#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
RERE	473	broad.mit.edu	37	1	8418817	8418817	+	Missense_Mutation	SNP	C	C	T	rs376576951		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:8418817C>T	ENST00000337907.3	-	21	4412	c.3778G>A	c.(3778-3780)Gcc>Acc	p.A1260T	RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Missense_Mutation_p.A992T|RERE_ENST00000400908.2_Missense_Mutation_p.A1260T|RERE_ENST00000476556.1_Missense_Mutation_p.A706T	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1260					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A1260T(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGGGGCCGGGCGTACTCGCTC	0.652																																						uc001ape.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3778-3780)GCC>ACC		atrophin-1 like protein isoform a		C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	100.0	101.0	101.0		3778,2116,3778	5.5	0.4	1		101	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RERE	NM_001042681.1,NM_001042682.1,NM_012102.3	58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1260/1567,706/1013,1260/1567	8418817	1,13005	2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8418817C>T	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.3778G>A	1.37:g.8418817C>T	ENSP00000338629:p.Ala1260Thr					RERE_uc001apf.2_Missense_Mutation_p.A1260T|RERE_uc001apd.2_Missense_Mutation_p.A706T	p.A1260T	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	21	4588	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1260					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.3778G>A	CCDS95.1	.	.	.	.	.	.	.	.	.	.	C	34	5.363670	0.95877	0.0	1.16E-4	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	D;D;D	0.82081	-1.57;-1.57;-1.57	5.46	5.46	0.80206	.	.	.	.	.	D	0.91150	0.7213	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91704	0.5376	9	0.87932	D	0	-19.3047	18.6671	0.91495	0.0:1.0:0.0:0.0	.	1260	Q9P2R6	RERE_HUMAN	T	1260;992;706;1260	ENSP00000338629:A1260T;ENSP00000366684:A992T;ENSP00000383700:A1260T	ENSP00000338629:A1260T	A	-	1	0	RERE	8341404	1.000000	0.71417	0.403000	0.26384	0.990000	0.78478	7.695000	0.84257	2.713000	0.92767	0.655000	0.94253	GCC		PASS	0.652	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			10	68	10	68	---	---	---	---
SERINC2	347735	broad.mit.edu	37	1	31898722	31898722	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:31898722G>A	ENST00000373709.3	+	5	722	c.572G>A	c.(571-573)gGc>gAc	p.G191D	SERINC2_ENST00000536859.1_Missense_Mutation_p.G195D|SERINC2_ENST00000373710.1_Missense_Mutation_p.G200D|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536384.1_Missense_Mutation_p.G195D	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	191					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)	p.G191D(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CGGTGGCTGGGCAAGGCCGAG	0.652																																						uc010ogh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(583-585)GGC>GAC		tumor differentially expressed 2-like							99.0	74.0	83.0					1																	31898722		2203	4300	6503	SO:0001583	missense	347735					integral to membrane		g.chr1:31898722G>A	AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"""tumor differentially expressed 2-like"""	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.572G>A	1.37:g.31898722G>A	ENSP00000362813:p.Gly191Asp					SERINC2_uc010ogg.1_Missense_Mutation_p.G192D|SERINC2_uc009vtw.1_Silent_p.G164G|SERINC2_uc001bst.2_Missense_Mutation_p.G191D|SERINC2_uc001bsu.2_Missense_Mutation_p.G136D|SERINC2_uc001bsv.2_Missense_Mutation_p.G136D	p.G195D	NM_178865	NP_849196	Q96SA4	SERC2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)	5	785	+		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)	191					A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Missense_Mutation	SNP	ENST00000373709.3	37	c.584G>A	CCDS30662.1	.	.	.	.	.	.	.	.	.	.	G	7.948	0.744161	0.15710	.	.	ENSG00000168528	ENST00000373710;ENST00000536859;ENST00000373709;ENST00000536384	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	4.11	3.19	0.36642	.	0.595355	0.17467	N	0.173206	T	0.10551	0.0258	L	0.41356	1.27	0.27897	N	0.939124	B;B;B	0.12013	0.001;0.001;0.005	B;B;B	0.15484	0.013;0.013;0.013	T	0.24977	-1.0145	10	0.19147	T	0.46	-2.6227	8.4137	0.32659	0.1831:0.0:0.8169:0.0	.	195;200;191	B4DJK5;E7EUZ9;Q96SA4	.;.;SERC2_HUMAN	D	200;195;191;195	ENSP00000362814:G200D;ENSP00000444307:G195D;ENSP00000362813:G191D;ENSP00000439048:G195D	ENSP00000362813:G191D	G	+	2	0	SERINC2	31671309	0.587000	0.26791	0.982000	0.44146	0.385000	0.30292	2.682000	0.46934	1.087000	0.41251	0.491000	0.48974	GGC		PASS	0.652	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	NM_018565		4	79	4	79	---	---	---	---
KPNA6	23633	broad.mit.edu	37	1	32628049	32628049	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:32628049C>G	ENST00000373625.3	+	9	928	c.835C>G	c.(835-837)Ctg>Gtg	p.L279V	KPNA6_ENST00000537234.1_Missense_Mutation_p.L276V|KPNA6_ENST00000545542.1_Missense_Mutation_p.L284V	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	279					maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.L279V(1)		large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCTTTCTTATCTGTCTGATGG	0.542																																						uc001bug.2																			1	Substitution - Missense(1)		lung(1)		0						c.(835-837)CTG>GTG		karyopherin alpha 6							126.0	122.0	123.0					1																	32628049		2203	4300	6503	SO:0001583	missense	23633				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr1:32628049C>G	AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"""Importins"", ""Armadillo repeat containing"""	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.835C>G	1.37:g.32628049C>G	ENSP00000362728:p.Leu279Val					KPNA6_uc001buh.2_Missense_Mutation_p.L54V|KPNA6_uc010ogx.1_Missense_Mutation_p.L276V|KPNA6_uc010ogy.1_Missense_Mutation_p.L284V|KPNA6_uc009vtz.2_Missense_Mutation_p.L174V	p.L279V	NM_012316	NP_036448	O60684	IMA7_HUMAN			9	923	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	279			ARM 5.		B2RDC7|D3DPP5|Q5VVU3	Missense_Mutation	SNP	ENST00000373625.3	37	c.835C>G	CCDS352.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294413	0.60086	.	.	ENSG00000025800	ENST00000373625;ENST00000373617;ENST00000537234;ENST00000545542;ENST00000446515	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	5.49	4.58	0.56647	Armadillo-like helical (1);Armadillo-type fold (1);	0.062121	0.64402	D	0.000004	D	0.88779	0.6529	M	0.76938	2.355	0.80722	D	1	B;B;B	0.33549	0.325;0.376;0.417	B;B;P	0.49953	0.318;0.446;0.627	D	0.89321	0.3640	10	0.72032	D	0.01	-6.906	12.6232	0.56616	0.0:0.8617:0.0:0.1383	.	284;284;279	F5GYL8;B4DWX3;O60684	.;.;IMA7_HUMAN	V	279;209;276;284;186	ENSP00000362728:L279V;ENSP00000444930:L276V;ENSP00000440609:L284V;ENSP00000415677:L186V	ENSP00000362719:L209V	L	+	1	2	KPNA6	32400636	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	3.609000	0.54117	1.478000	0.48253	0.655000	0.94253	CTG		PASS	0.542	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012527.4	NM_012316		6	203	6	203	---	---	---	---
LCK	3932	broad.mit.edu	37	1	32742336	32742336	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:32742336G>A	ENST00000336890.5	+	9	1051	c.913G>A	c.(913-915)Gct>Act	p.A305T	LCK_ENST00000373564.3_Missense_Mutation_p.A312T|LCK_ENST00000333070.4_Missense_Mutation_p.A305T	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	305	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)	p.A312T(1)|p.A305T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	TCGGCTCTACGCTGTGGTCAC	0.602			T	TRB@	T-ALL																																	uc001bux.2				Dom	yes		1	1p35-p34.3	3932	T	lymphocyte-specific protein tyrosine kinase			L	TRB@		T-ALL		2	Substitution - Missense(2)		lung(2)	lung(3)|central_nervous_system(2)|ovary(1)	6						c.(913-915)GCT>ACT		lymphocyte-specific protein tyrosine kinase	Dasatinib(DB01254)						45.0	41.0	43.0					1																	32742336		2203	4300	6503	SO:0001583	missense	3932				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	g.chr1:32742336G>A	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.913G>A	1.37:g.32742336G>A	ENSP00000337825:p.Ala305Thr					LCK_uc001buy.2_Missense_Mutation_p.A305T|LCK_uc001buz.2_Missense_Mutation_p.A305T|LCK_uc010ohc.1_Missense_Mutation_p.A349T|LCK_uc001bva.2_Missense_Mutation_p.A312T	p.A305T	NM_005356	NP_005347	P06239	LCK_HUMAN			9	1051	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	305			Protein kinase.		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	ENST00000336890.5	37	c.913G>A	CCDS359.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198906	0.94997	.	.	ENSG00000182866	ENST00000336890;ENST00000398345;ENST00000495610;ENST00000333070;ENST00000436824;ENST00000373564	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	D	0.88104	0.6347	L	0.41124	1.26	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.988;0.994;0.977;0.968	D	0.88888	0.3344	10	0.87932	D	0	.	18.4689	0.90766	0.0:0.0:1.0:0.0	.	349;312;305;305	E7EN21;Q573B4;P06239-3;P06239	.;.;.;LCK_HUMAN	T	305;45;254;305;349;312	ENSP00000337825:A305T;ENSP00000435605:A254T;ENSP00000328213:A305T;ENSP00000362665:A312T	ENSP00000328213:A305T	A	+	1	0	LCK	32514923	1.000000	0.71417	0.980000	0.43619	0.711000	0.40976	9.834000	0.99428	2.735000	0.93741	0.555000	0.69702	GCT		PASS	0.602	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356		18	13	18	13	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34128589	34128590	+	Missense_Mutation	DNP	CC	CC	AT	rs115110975	byFrequency	TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:34128589_34128590CC>AT	ENST00000373380.1	-	5	994_995	c.774_775GG>AT	c.(772-777)ccGGcc>ccATcc	p.A259S	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.A1386S			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1346	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A1346S(2)|p.P1345P(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTGGGCAGGGCCGGGCCACTCA	0.574																																						uc001bxn.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(6)|skin(5)|pancreas(1)	12						c.(4036-4038)GCC>TCC|c.(4033-4035)CCG>CCA		CUB and Sushi multiple domains 2																																				SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34128589C>A|g.chr1:34128590C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.774_775delinsAT	1.37:g.34128589_34128590delinsAT	ENSP00000362478:p.Ala259Ser					CSMD2_uc001bxm.1_Missense_Mutation_p.A1386S|CSMD2_uc001bxo.1_Missense_Mutation_p.A259S|CSMD2_uc001bxm.1_Silent_p.P1385P|CSMD2_uc001bxo.1_Silent_p.P258P	p.A1346S|p.P1345P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			26	4065|4064	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1346|1345			CUB 8.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation|Silent	SNP	ENST00000373380.1	37	c.4036G>T|c.4035G>A																																																																																					PASS	0.574	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		107|109	209|205	107	205	---	---	---	---
GRIK3	2899	broad.mit.edu	37	1	37324736	37324736	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:37324736G>A	ENST00000373091.3	-	7	1093	c.1077C>T	c.(1075-1077)ggC>ggT	p.G359G	GRIK3_ENST00000373093.4_Silent_p.G359G|GRIK3_ENST00000462621.1_5'UTR	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	359					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.G359G(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TGAAGCGGCCGCCAAAGCGCC	0.622																																						uc001caz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(1075-1077)GGC>GGT		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						87.0	87.0	87.0					1																	37324736		2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37324736G>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1077C>T	1.37:g.37324736G>A						GRIK3_uc001cba.1_Silent_p.G359G	p.G359G	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			7	1212	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	359			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.1077C>T	CCDS416.1																																																																																				PASS	0.622	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		189	107	189	107	---	---	---	---
FHL3	2275	broad.mit.edu	37	1	38463723	38463723	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:38463723G>A	ENST00000373016.3	-	4	581	c.413C>T	c.(412-414)tCc>tTc	p.S138F	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	138	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)	p.S138F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAAAGAACGGGAGCCCAGTGG	0.617																																						uc001ccj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(412-414)TCC>TTC		four and a half LIM domains 3							86.0	87.0	86.0					1																	38463723		2203	4300	6503	SO:0001583	missense	2275				muscle organ development		zinc ion binding	g.chr1:38463723G>A	BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.413C>T	1.37:g.38463723G>A	ENSP00000362107:p.Ser138Phe					FHL3_uc001cck.2_Missense_Mutation_p.S138F|FHL3_uc001ccl.2_Missense_Mutation_p.S138F|FHL3_uc001ccm.2_Missense_Mutation_p.S30F|FHL3_uc009vvl.1_Missense_Mutation_p.S138F	p.S138F	NM_004468	NP_004459	Q13643	FHL3_HUMAN			4	500	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	138			LIM zinc-binding 2.		D3DPT6|Q6I9T0|Q9BVA2	Missense_Mutation	SNP	ENST00000373016.3	37	c.413C>T	CCDS30678.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386387	0.82902	.	.	ENSG00000183386	ENST00000373016	D	0.88354	-2.37	5.2	5.2	0.72013	Zinc finger, LIM-type (4);	0.054803	0.85682	D	0.000000	D	0.94991	0.8379	M	0.86178	2.8	0.80722	D	1	D;D;D	0.76494	0.995;0.996;0.999	D;D;D	0.69824	0.966;0.93;0.966	D	0.95619	0.8679	10	0.87932	D	0	.	18.7241	0.91708	0.0:0.0:1.0:0.0	.	138;30;138	Q9P100;Q96C98;Q13643	.;.;FHL3_HUMAN	F	138	ENSP00000362107:S138F	ENSP00000362107:S138F	S	-	2	0	FHL3	38236310	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.981000	0.88123	2.432000	0.82394	0.462000	0.41574	TCC		PASS	0.617	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012958.1	NM_004468		28	209	28	209	---	---	---	---
ZMYND12	84217	broad.mit.edu	37	1	42898856	42898856	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:42898856C>G	ENST00000372565.3	-	7	1202	c.933G>C	c.(931-933)aaG>aaC	p.K311N	ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Missense_Mutation_p.K201N	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	311						intracellular (GO:0005622)	metal ion binding (GO:0046872)	p.K311N(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGACCAGGATCTTCAGAACAA	0.393																																						uc001chj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(931-933)AAG>AAC		zinc finger, MYND-type containing 12 isoform 1							150.0	159.0	156.0					1																	42898856		2203	4300	6503	SO:0001583	missense	84217					intracellular	zinc ion binding	g.chr1:42898856C>G	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.933G>C	1.37:g.42898856C>G	ENSP00000361646:p.Lys311Asn					ZMYND12_uc010ojt.1_Missense_Mutation_p.K201N	p.K311N	NM_032257	NP_115633	Q9H0C1	ZMY12_HUMAN			7	1203	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	311					Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	ENST00000372565.3	37	c.933G>C	CCDS467.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.707875	0.48412	.	.	ENSG00000066185	ENST00000372565;ENST00000433602	T;T	0.74632	-0.86;0.87	5.71	0.204	0.15199	Tetratricopeptide-like helical (1);	0.261665	0.42053	N	0.000768	T	0.54935	0.1889	L	0.60455	1.87	0.26662	N	0.971883	P;P	0.42692	0.787;0.501	B;B	0.39094	0.29;0.154	T	0.55010	-0.8207	10	0.02654	T	1	-11.0744	0.2808	0.00244	0.2873:0.1715:0.1482:0.393	.	201;311	E9PFV0;Q9H0C1	.;ZMY12_HUMAN	N	311;201	ENSP00000361646:K311N;ENSP00000398340:K201N	ENSP00000361646:K311N	K	-	3	2	ZMYND12	42671443	0.965000	0.33210	0.996000	0.52242	0.887000	0.51463	0.029000	0.13666	0.100000	0.17581	-0.290000	0.09829	AAG		PASS	0.393	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		11	769	11	769	---	---	---	---
KDM4A	9682	broad.mit.edu	37	1	44126006	44126006	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:44126006G>T	ENST00000372396.3	+	4	486	c.352G>T	c.(352-354)Gag>Tag	p.E118*	KDM4A_ENST00000463151.1_3'UTR	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	118					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E118*(1)|p.E118K(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TGAAGAGCTCGAGCGGAAAta	0.403																																						uc001cjx.2																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		large_intestine(1)|lung(1)	skin(1)	1						c.(352-354)GAG>TAG		jumonji domain containing 2A							90.0	86.0	87.0					1																	44126006		2203	4300	6503	SO:0001587	stop_gained	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44126006G>T	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.352G>T	1.37:g.44126006G>T	ENSP00000361473:p.Glu118*					KDM4A_uc010oki.1_Nonsense_Mutation_p.E118*	p.E118*	NM_014663	NP_055478	O75164	KDM4A_HUMAN			4	518	+			118					Q5VVB1	Nonsense_Mutation	SNP	ENST00000372396.3	37	c.352G>T	CCDS491.1	.	.	.	.	.	.	.	.	.	.	G	37	6.499131	0.97616	.	.	ENSG00000066135	ENST00000372396	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	0.0731	20.5827	0.99408	0.0:0.0:1.0:0.0	.	.	.	.	X	118	.	ENSP00000361473:E118X	E	+	1	0	KDM4A	43898593	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.187000	0.94912	2.941000	0.99782	0.655000	0.94253	GAG		PASS	0.403	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		79	131	79	131	---	---	---	---
TESK2	10420	broad.mit.edu	37	1	45887417	45887417	+	Silent	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:45887417G>C	ENST00000372086.3	-	3	724	c.324C>G	c.(322-324)ctC>ctG	p.L108L	TESK2_ENST00000372084.1_Silent_p.L108L|TESK2_ENST00000538496.1_Silent_p.L25L|TESK2_ENST00000451835.2_Silent_p.L108L|TESK2_ENST00000341771.6_Silent_p.L108L|TESK2_ENST00000486676.1_5'UTR	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	108	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.L108L(2)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TGGGATGGGAGAGTCTATTCA	0.428																																						uc001cns.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(2)|pancreas(1)	5						c.(322-324)CTC>CTG		testis-specific protein kinase 2							284.0	259.0	267.0					1																	45887417		1908	4126	6034	SO:0001819	synonymous_variant	10420				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:45887417G>C	AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.324C>G	1.37:g.45887417G>C						TESK2_uc009vxr.1_Silent_p.L108L|TESK2_uc010olo.1_Silent_p.L25L|TESK2_uc009vxs.1_5'UTR|TESK2_uc010olp.1_Silent_p.L108L	p.L108L	NM_007170	NP_009101	Q96S53	TESK2_HUMAN			3	727	-	Acute lymphoblastic leukemia(166;0.155)		108			Protein kinase.		Q5T422|Q5T423|Q8N520|Q9Y3Q6	Silent	SNP	ENST00000372086.3	37	c.324C>G	CCDS41323.1																																																																																				PASS	0.428	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	NM_007170		20	645	20	645	---	---	---	---
TCTEX1D1	200132	broad.mit.edu	37	1	67243017	67243017	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:67243017G>A	ENST00000282670.2	+	5	548	c.420G>A	c.(418-420)caG>caA	p.Q140Q		NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	140								p.Q140Q(1)		large_intestine(2)|lung(10)|skin(1)	13						TGAACAGGCAGAGCATACTTA	0.368																																						uc001dcv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(418-420)CAG>CAA		Tctex1 domain containing 1							163.0	168.0	166.0					1																	67243017		2203	4300	6503	SO:0001819	synonymous_variant	200132							g.chr1:67243017G>A	AK098192	CCDS633.1	1p31.2	2008-02-05			ENSG00000152760	ENSG00000152760			26882	protein-coding gene	gene with protein product							Standard	NM_152665		Approved	FLJ40873	uc001dcv.3	Q8N7M0	OTTHUMG00000009162	ENST00000282670.2:c.420G>A	1.37:g.67243017G>A						TCTEX1D1_uc009wau.2_RNA|TCTEX1D1_uc009wav.2_RNA	p.Q140Q	NM_152665	NP_689878	Q8N7M0	TC1D1_HUMAN			5	551	+			140					Q06YR9|Q5VYE1	Silent	SNP	ENST00000282670.2	37	c.420G>A	CCDS633.1																																																																																				PASS	0.368	TCTEX1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025399.2	NM_152665		148	103	148	103	---	---	---	---
SERBP1	26135	broad.mit.edu	37	1	67895808	67895808	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:67895808G>C	ENST00000370995.2	-	1	261	c.176C>G	c.(175-177)gCc>gGc	p.A59G	SERBP1_ENST00000361219.6_Missense_Mutation_p.A59G|SERBP1_ENST00000370994.4_Missense_Mutation_p.A59G|SERBP1_ENST00000370990.5_Missense_Mutation_p.A59G			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	59					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)	p.A59G(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						GTTGGTCTGGGCCGCGGCCTG	0.647																																						uc001ddv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(175-177)GCC>GGC		SERPINE1 mRNA binding protein 1 isoform 1							31.0	38.0	36.0					1																	67895808		2195	4296	6491	SO:0001583	missense	26135				regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding	g.chr1:67895808G>C	AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.176C>G	1.37:g.67895808G>C	ENSP00000360034:p.Ala59Gly					SERBP1_uc001ddx.2_Missense_Mutation_p.A59G|SERBP1_uc001ddy.2_Missense_Mutation_p.A59G|SERBP1_uc001ddw.2_Missense_Mutation_p.A59G	p.A59G	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN			1	316	-			59					Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Missense_Mutation	SNP	ENST00000370995.2	37	c.176C>G	CCDS30746.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500029	0.44455	.	.	ENSG00000142864	ENST00000370994;ENST00000370995;ENST00000361219;ENST00000370990	.	.	.	3.91	3.91	0.45181	.	0.000000	0.44285	D	0.000476	T	0.22085	0.0532	L	0.41573	1.285	0.46396	D	0.999027	B;P;B;P	0.39782	0.059;0.462;0.206;0.688	B;B;B;B	0.34418	0.014;0.13;0.115;0.182	T	0.04693	-1.0933	9	0.25751	T	0.34	.	7.6121	0.28137	0.1125:0.0:0.8875:0.0	.	122;122;59;59	D3DQ69;D3DQ70;Q8NC51-3;Q8NC51	.;.;.;PAIRB_HUMAN	G	59	.	ENSP00000354591:A59G	A	-	2	0	SERBP1	67668396	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.509000	0.35780	2.471000	0.83476	0.462000	0.41574	GCC		PASS	0.647	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025984.2	NM_001018067		65	13	65	13	---	---	---	---
DIRAS3	9077	broad.mit.edu	37	1	68512891	68512891	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:68512891C>A	ENST00000370981.1	-	4	726	c.90G>T	c.(88-90)aaG>aaT	p.K30N	DIRAS3_ENST00000395201.1_Missense_Mutation_p.K30N|GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	30					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.K30N(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCCTGTGGGGCTTGAAGGCGC	0.602																																						uc001ded.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(88-90)AAG>AAT		DIRAS family, GTP-binding RAS-like 3							47.0	52.0	50.0					1																	68512891		2203	4300	6503	SO:0001583	missense	9077				regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr1:68512891C>A	U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"""ras homolog gene family, member I"""	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.90G>T	1.37:g.68512891C>A	ENSP00000360020:p.Lys30Asn					uc001deb.1_Intron|uc001dec.1_Intron	p.K30N	NM_004675	NP_004666	O95661	DIRA3_HUMAN			2	385	-			30					B3KMP3	Missense_Mutation	SNP	ENST00000370981.1	37	c.90G>T	CCDS641.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.377922	0.24944	.	.	ENSG00000162595	ENST00000370981;ENST00000395201	T;T	0.73681	-0.77;-0.77	3.98	0.86	0.19042	.	.	.	.	.	T	0.31888	0.0811	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18524	-1.0334	9	0.44086	T	0.13	.	2.5225	0.04683	0.3286:0.4131:0.1605:0.0978	.	30	O95661	DIRA3_HUMAN	N	30	ENSP00000360020:K30N;ENSP00000378627:K30N	ENSP00000360020:K30N	K	-	3	2	DIRAS3	68285479	0.244000	0.23889	0.000000	0.03702	0.001000	0.01503	0.515000	0.22801	-0.047000	0.13423	0.563000	0.77884	AAG		PASS	0.602	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026354.2	NM_004675		4	49	4	49	---	---	---	---
PTBP2	58155	broad.mit.edu	37	1	97243153	97243153	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:97243153G>T	ENST00000426398.2	+	6	488	c.445G>T	c.(445-447)Gtt>Ttt	p.V149F	PTBP2_ENST00000370197.1_Missense_Mutation_p.V149F|PTBP2_ENST00000394184.3_Missense_Mutation_p.V160F|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000609116.1_Missense_Mutation_p.V149F|PTBP2_ENST00000541987.1_Missense_Mutation_p.V118F|PTBP2_ENST00000370198.1_Missense_Mutation_p.V149F	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	149					mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V149F(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TGCTCAGGCAGTTCTTCAAGC	0.443																																						uc001drq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(445-447)GTT>TTT		polypyrimidine tract binding protein 2							76.0	74.0	74.0					1																	97243153		2203	4300	6503	SO:0001583	missense	58155						nucleotide binding	g.chr1:97243153G>T	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.445G>T	1.37:g.97243153G>T	ENSP00000412788:p.Val149Phe					PTBP2_uc001drn.2_Missense_Mutation_p.V149F|PTBP2_uc001dro.2_Missense_Mutation_p.V149F|PTBP2_uc010otz.1_Missense_Mutation_p.V160F|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.V97F|PTBP2_uc001drr.2_Missense_Mutation_p.V149F|PTBP2_uc010oua.1_Missense_Mutation_p.V157F|PTBP2_uc001dru.2_RNA	p.V149F	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	6	691	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)	149					Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Missense_Mutation	SNP	ENST00000426398.2	37	c.445G>T	CCDS754.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745030	0.89663	.	.	ENSG00000117569	ENST00000236228;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184;ENST00000541987;ENST00000394176	T;T;T;T;T;T	0.77877	0.87;0.87;0.85;0.86;0.85;-1.13	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.79125	0.4393	L	0.60455	1.87	0.80722	D	1	B;D;D;P;P;P	0.58620	0.001;0.971;0.983;0.819;0.693;0.886	B;P;P;P;P;P	0.50570	0.009;0.543;0.644;0.514;0.521;0.6	T	0.80339	-0.1424	10	0.72032	D	0.01	-7.3425	20.5632	0.99335	0.0:0.0:1.0:0.0	.	157;160;149;149;149;149	B4DSU5;B4DSS8;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3	.;.;.;PTBP2_HUMAN;.;.	F	149;149;149;149;160;118;139	ENSP00000236228:V149F;ENSP00000359217:V149F;ENSP00000359216:V149F;ENSP00000412788:V149F;ENSP00000377738:V160F;ENSP00000442475:V118F	ENSP00000236228:V149F	V	+	1	0	PTBP2	97015741	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.143000	0.94623	2.937000	0.99478	0.650000	0.86243	GTT		PASS	0.443	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			43	12	43	12	---	---	---	---
SNX7	51375	broad.mit.edu	37	1	99150477	99150477	+	Missense_Mutation	SNP	A	A	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:99150477A>G	ENST00000306121.3	+	2	226	c.217A>G	c.(217-219)Atg>Gtg	p.M73V	SNX7_ENST00000370189.5_Missense_Mutation_p.M9V|SNX7_ENST00000529992.1_Missense_Mutation_p.M73V	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	9	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.M73V(1)|p.M9V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		CTTCAGCCCTATGATGCCAAC	0.338																																						uc010ouc.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(217-219)ATG>GTG		sorting nexin 7 isoform a							120.0	109.0	113.0					1																	99150477		2203	4300	6503	SO:0001583	missense	51375				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr1:99150477A>G	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.217A>G	1.37:g.99150477A>G	ENSP00000304429:p.Met73Val					SNX7_uc001dsa.2_Missense_Mutation_p.M9V|SNX7_uc010oud.1_Missense_Mutation_p.M73V	p.M73V	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	2	269	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	9					A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	c.217A>G	CCDS755.2	.	.	.	.	.	.	.	.	.	.	A	8.965	0.971412	0.18736	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121;ENST00000454199	T;T;T;T	0.53206	1.63;2.28;1.57;0.63	5.39	-9.7	0.00521	.	0.711303	0.14983	N	0.287156	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	B;B;B	0.14438	0.002;0.003;0.01	B;B;B	0.15052	0.002;0.012;0.009	T	0.20773	-1.0265	10	0.29301	T	0.29	-4.7258	4.0756	0.09902	0.2898:0.0789:0.4358:0.1955	.	73;73;9	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	V	9;73;73;9	ENSP00000359208:M9V;ENSP00000434731:M73V;ENSP00000304429:M73V;ENSP00000388266:M9V	ENSP00000304429:M73V	M	+	1	0	SNX7	98923065	0.997000	0.39634	0.046000	0.18839	0.541000	0.35023	0.836000	0.27545	-1.258000	0.02471	-1.017000	0.02453	ATG		PASS	0.338	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			102	17	102	17	---	---	---	---
CHIA	27159	broad.mit.edu	37	1	111855005	111855005	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:111855005G>A	ENST00000369740.1	+	4	352	c.249G>A	c.(247-249)ctG>ctA	p.L83L	CHIA_ENST00000343320.6_Silent_p.L83L|CHIA_ENST00000451398.2_Intron|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_Intron|CHIA_ENST00000353665.6_Intron	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	83					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)	p.L83L(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TCAATGGCCTGAAAAATAAGT	0.423																																						uc001eas.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(247-249)CTG>CTA		acidic chitinase isoform c							92.0	87.0	89.0					1																	111855005		1904	4115	6019	SO:0001819	synonymous_variant	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111855005G>A	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.249G>A	1.37:g.111855005G>A						CHIA_uc001ear.2_Intron|CHIA_uc001eaq.2_Intron|CHIA_uc009wgc.2_Intron|CHIA_uc001eat.2_Intron|CHIA_uc001eav.2_Intron|CHIA_uc001eau.2_Intron|CHIA_uc009wgd.2_Intron	p.L83L	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	4	352	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	83					Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Silent	SNP	ENST00000369740.1	37	c.249G>A	CCDS41368.1																																																																																				PASS	0.423	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			10	89	10	89	---	---	---	---
GPR89B	51463	broad.mit.edu	37	1	147408773	147408773	+	Silent	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:147408773C>T	ENST00000314163.7	+	2	219	c.75C>T	c.(73-75)ttC>ttT	p.F25F		NM_016334.3	NP_057418.1	P0CG08	GPHRB_HUMAN	G protein-coupled receptor 89B	25					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	voltage-gated ion channel activity (GO:0005244)	p.F25F(1)		large_intestine(1)	1	all_hematologic(923;0.0276)					GGCTTTTCTTCATGCGCCAAT	0.299																																						uc001epv.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(73-75)TTC>TTT		G protein-coupled receptor 89B							101.0	102.0	102.0					1																	147408773		2203	4292	6495	SO:0001819	synonymous_variant	51463				intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity	g.chr1:147408773C>T	U78723	CCDS930.1	1q21.1	2014-06-19	2007-06-06	2007-06-06	ENSG00000188092	ENSG00000188092			13840	protein-coding gene	gene with protein product		612806	"""G protein-coupled receptor 89"", ""G protein-coupled receptor 89C"""	GPR89, GPR89C		11042152	Standard	NM_016334		Approved	SH120	uc001epv.4	P0CG08	OTTHUMG00000013452	ENST00000314163.7:c.75C>T	1.37:g.147408773C>T						GPR89B_uc010ozs.1_Silent_p.F25F|GPR89B_uc010ozt.1_5'UTR|GPR89B_uc010ozu.1_5'UTR|GPR89B_uc001epw.3_5'UTR|GPR89B_uc010ozv.1_5'UTR	p.F25F	NM_016334	NP_057418	B7ZAQ6	GPHRA_HUMAN			2	219	+	all_hematologic(923;0.0276)		25			Helical; (Potential).		A6NN37|B2RUV3|B3KMN3|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Silent	SNP	ENST00000314163.7	37	c.75C>T	CCDS930.1																																																																																				PASS	0.299	GPR89B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037481.2	NM_016334		10	280	10	280	---	---	---	---
CTSK	1513	broad.mit.edu	37	1	150772182	150772182	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:150772182C>A	ENST00000271651.3	-	6	732	c.622G>T	c.(622-624)Gag>Tag	p.E208*		NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	208					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)	p.E208*(1)		cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATACAACTCTCTTCCTGGAAG	0.468																																						uc001evp.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(622-624)GAG>TAG		cathepsin K preproprotein							120.0	113.0	116.0					1																	150772182		2203	4300	6503	SO:0001587	stop_gained	1513				proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding	g.chr1:150772182C>A	BC016058	CCDS969.1	1q21	2008-02-05	2006-12-05		ENSG00000143387	ENSG00000143387		"""Cathepsins"""	2536	protein-coding gene	gene with protein product		601105	"""cathepsin K (pycnodysostosis)"""	CTSO2, CTSO, PYCD		7818555	Standard	NM_000396		Approved	PKND	uc001evp.2	P43235	OTTHUMG00000035008	ENST00000271651.3:c.622G>T	1.37:g.150772182C>A	ENSP00000271651:p.Glu208*					CTSK_uc001evq.1_Nonsense_Mutation_p.E119*	p.E208*	NM_000396	NP_000387	P43235	CATK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		6	746	-	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		208					Q6FHS6	Nonsense_Mutation	SNP	ENST00000271651.3	37	c.622G>T	CCDS969.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265805	0.80358	.	.	ENSG00000143387	ENST00000271651	.	.	.	6.04	6.04	0.98038	.	0.049136	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	13.6456	0.62279	0.0:0.8451:0.1548:0.0	.	.	.	.	X	208	.	ENSP00000271651:E208X	E	-	1	0	CTSK	149038806	0.938000	0.31826	1.000000	0.80357	0.484000	0.33280	1.611000	0.36879	2.873000	0.98535	0.563000	0.77884	GAG		PASS	0.468	CTSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084732.1	NM_000396		68	184	68	184	---	---	---	---
SETDB1	9869	broad.mit.edu	37	1	150931785	150931785	+	Missense_Mutation	SNP	A	A	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:150931785A>G	ENST00000271640.5	+	15	2652	c.2462A>G	c.(2461-2463)gAt>gGt	p.D821G	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.D821G	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	821	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.D821G(1)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGCTGCTTGGATGACATTGCC	0.458																																						uc001evu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(2461-2463)GAT>GGT		SET domain, bifurcated 1 isoform 1							225.0	223.0	223.0					1																	150931785		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150931785A>G	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.2462A>G	1.37:g.150931785A>G	ENSP00000271640:p.Asp821Gly					SETDB1_uc001evv.2_Missense_Mutation_p.D821G|SETDB1_uc009wmg.1_Missense_Mutation_p.D821G	p.D821G	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		15	2652	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		821			SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.2462A>G	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.763524	0.89932	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;D	0.82081	-1.57;-1.57;-1.57	5.4	5.4	0.78164	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.85053	0.5609	L	0.39898	1.24	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.997	D;D;D	0.91635	0.999;0.993;0.996	D	0.87308	0.2310	10	0.72032	D	0.01	.	15.5958	0.76578	1.0:0.0:0.0:0.0	.	821;821;821	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	G	821	ENSP00000271640:D821G;ENSP00000357965:D821G;ENSP00000432348:D821G	ENSP00000271640:D821G	D	+	2	0	SETDB1	149198409	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.107000	0.94261	2.277000	0.76020	0.528000	0.53228	GAT		PASS	0.458	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			105	173	105	173	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152188316	152188316	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:152188316G>C	ENST00000368801.2	-	3	5864	c.5789C>G	c.(5788-5790)tCc>tGc	p.S1930C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1930					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S1930C(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACTGACGGGAGCCAGACCC	0.577																																						uc001ezt.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(5788-5790)TCC>TGC		hornerin							217.0	327.0	290.0					1																	152188316		2118	4278	6396	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188316G>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5789C>G	1.37:g.152188316G>C	ENSP00000357791:p.Ser1930Cys						p.S1930C	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5865	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1930			21.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.5789C>G	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	6.481	0.456950	0.12283	.	.	ENSG00000197915	ENST00000368801	T	0.03004	4.08	3.8	1.84	0.25277	.	.	.	.	.	T	0.01222	0.0040	L	0.43923	1.385	0.09310	N	1	B	0.33748	0.423	B	0.28784	0.094	T	0.46105	-0.9215	9	0.51188	T	0.08	.	7.9692	0.30117	0.0:0.1749:0.6444:0.1807	.	1930	Q86YZ3	HORN_HUMAN	C	1930	ENSP00000357791:S1930C	ENSP00000357791:S1930C	S	-	2	0	HRNR	150454940	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	0.221000	0.17680	0.372000	0.24591	0.558000	0.71614	TCC		PASS	0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		58	720	58	720	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152324336	152324336	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:152324336G>C	ENST00000388718.5	-	3	5998	c.5926C>G	c.(5926-5928)Cac>Gac	p.H1976D	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1976					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H1976D(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTTGACCGTGAGTGTGTCCT	0.527																																						uc001ezw.3																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(5926-5928)CAC>GAC		filaggrin family member 2							372.0	343.0	353.0					1																	152324336		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152324336G>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5926C>G	1.37:g.152324336G>C	ENSP00000373370:p.His1976Asp					uc001ezv.2_Intron	p.H1976D	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5999	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1976					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.5926C>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	g	8.295	0.818569	0.16607	.	.	ENSG00000143520	ENST00000388718	T	0.08458	3.09	4.23	1.32	0.21799	.	.	.	.	.	T	0.02610	0.0079	M	0.74258	2.255	0.09310	N	1	B	0.16802	0.019	B	0.17098	0.017	T	0.46359	-0.9197	9	0.12430	T	0.62	0.0737	3.5927	0.07994	0.2077:0.0:0.5952:0.1971	.	1976	Q5D862	FILA2_HUMAN	D	1976	ENSP00000373370:H1976D	ENSP00000373370:H1976D	H	-	1	0	FLG2	150590960	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.168000	0.16622	0.580000	0.29522	-0.372000	0.07161	CAC		PASS	0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		201	499	201	499	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152326177	152326177	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:152326177C>T	ENST00000388718.5	-	3	4157	c.4085G>A	c.(4084-4086)aGa>aAa	p.R1362K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1362					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R1362K(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGTGTGGTCTATGTGAGAC	0.468																																						uc001ezw.3																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(4084-4086)AGA>AAA		filaggrin family member 2							259.0	229.0	239.0					1																	152326177		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326177C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4085G>A	1.37:g.152326177C>T	ENSP00000373370:p.Arg1362Lys					uc001ezv.2_Intron	p.R1362K	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4158	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1362					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4085G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	0.841	-0.742032	0.03088	.	.	ENSG00000143520	ENST00000388718	T	0.23950	1.88	1.96	-0.331	0.12679	.	.	.	.	.	T	0.04363	0.0120	L	0.58101	1.795	0.09310	N	1	P	0.36222	0.544	B	0.23716	0.048	T	0.40961	-0.9535	9	0.06099	T	0.92	-4.0398	4.2332	0.10613	0.2246:0.4364:0.339:0.0	.	1362	Q5D862	FILA2_HUMAN	K	1362	ENSP00000373370:R1362K	ENSP00000373370:R1362K	R	-	2	0	FLG2	150592801	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	0.389000	0.20751	-0.063000	0.13065	0.196000	0.17591	AGA		PASS	0.468	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		166	238	166	238	---	---	---	---
LELP1	149018	broad.mit.edu	37	1	153177281	153177281	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:153177281C>A	ENST00000368747.1	+	2	208	c.98C>A	c.(97-99)cCc>cAc	p.P33H		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	33	Cys/Pro-rich.							p.P33H(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAATGCCAGCCCAGCTGTTTA	0.502																																						uc001fbl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(97-99)CCC>CAC		late cornified envelope-like proline-rich 1							154.0	141.0	145.0					1																	153177281		2203	4300	6503	SO:0001583	missense	149018							g.chr1:153177281C>A		CCDS30869.1	1q21.3	2008-02-05			ENSG00000203784	ENSG00000203784			32046	protein-coding gene	gene with protein product		611042					Standard	NM_001010857		Approved		uc001fbl.4	Q5T871	OTTHUMG00000013935	ENST00000368747.1:c.98C>A	1.37:g.153177281C>A	ENSP00000357736:p.Pro33His						p.P33H	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	208	+	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		33			Cys/Pro-rich.		A1L4E1	Missense_Mutation	SNP	ENST00000368747.1	37	c.98C>A	CCDS30869.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.850516	0.51270	.	.	ENSG00000203784	ENST00000368747	.	.	.	5.02	5.02	0.67125	.	0.365995	0.20299	N	0.095078	T	0.64305	0.2586	.	.	.	0.34759	D	0.732552	D	0.89917	1.0	D	0.91635	0.999	T	0.60786	-0.7194	8	0.28530	T	0.3	-4.3675	14.0146	0.64517	0.0:1.0:0.0:0.0	.	33	Q5T871	LELP1_HUMAN	H	33	.	ENSP00000357736:P33H	P	+	2	0	LELP1	151443905	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.347000	0.52200	2.769000	0.95229	0.561000	0.74099	CCC		PASS	0.502	LELP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039104.1	NM_001010857		125	129	125	129	---	---	---	---
GON4L	54856	broad.mit.edu	37	1	155792234	155792234	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:155792234C>T	ENST00000368331.1	-	4	779	c.731G>A	c.(730-732)aGa>aAa	p.R244K	GON4L_ENST00000271883.5_Missense_Mutation_p.R244K|GON4L_ENST00000361040.5_Missense_Mutation_p.R244K|GON4L_ENST00000437809.1_Missense_Mutation_p.R244K|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	244					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R244K(3)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTTCTTTTTTCTCCTTTTCTC	0.428																																						uc001flz.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)	3						c.(730-732)AGA>AAA		gon-4-like isoform a							202.0	176.0	185.0					1																	155792234		2203	4300	6503	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155792234C>T	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.731G>A	1.37:g.155792234C>T	ENSP00000357315:p.Arg244Lys					GON4L_uc001fly.1_Missense_Mutation_p.R244K|GON4L_uc009wrh.1_Missense_Mutation_p.R244K|GON4L_uc001fma.1_Missense_Mutation_p.R244K|GON4L_uc001fmc.2_Missense_Mutation_p.R244K|GON4L_uc001fmd.3_Missense_Mutation_p.R244K|GON4L_uc009wri.2_5'UTR|GON4L_uc001fme.2_Missense_Mutation_p.R72K|GON4L_uc001fmf.2_5'Flank	p.R244K	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			4	828	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		244					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.731G>A		.	.	.	.	.	.	.	.	.	.	C	9.955	1.221143	0.22457	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.11277	2.97;2.97;2.97;2.79	5.4	2.32	0.28847	.	0.305773	0.27797	N	0.017806	T	0.01320	0.0043	N	0.16656	0.425	0.19300	N	0.999978	B;B;B;B	0.14438	0.001;0.01;0.006;0.01	B;B;B;B	0.11329	0.002;0.006;0.003;0.006	T	0.48234	-0.9053	10	0.02654	T	1	.	8.9351	0.35695	0.0:0.659:0.0:0.341	.	244;244;244;244	A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	K	244	ENSP00000396117:R244K;ENSP00000357315:R244K;ENSP00000271883:R244K;ENSP00000354322:R244K	ENSP00000271883:R244K	R	-	2	0	GON4L	154058858	0.042000	0.20092	0.670000	0.29842	0.964000	0.63967	0.363000	0.20301	0.313000	0.23062	0.561000	0.74099	AGA		PASS	0.428	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		130	128	130	128	---	---	---	---
LMNA	4000	broad.mit.edu	37	1	156084925	156084925	+	Silent	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:156084925C>A	ENST00000368300.4	+	1	428	c.216C>A	c.(214-216)cgC>cgA	p.R72R	LMNA_ENST00000361308.4_Silent_p.R72R|LMNA_ENST00000368299.3_Silent_p.R72R|LMNA_ENST00000347559.2_Silent_p.R72R|LMNA_ENST00000368301.2_Silent_p.R72R	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	72	Interaction with MLIP.|Linker 1.|Rod.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)	p.R72R(1)		NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					TGGTCAGCCGCGAGGTGTCCG	0.657									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																													uc001fni.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(214-216)CGC>CGA		lamin A/C isoform 1 precursor							25.0	24.0	24.0					1																	156084925		2199	4297	6496	SO:0001819	synonymous_variant	4000	Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity|structural molecule activity	g.chr1:156084925C>A	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"""Intermediate filaments type V, lamins"""	6636	protein-coding gene	gene with protein product		150330	"""cardiomyopathy, dilated 1A (autosomal dominant)"", ""limb girdle muscular dystrophy 1B (autosomal dominant)"", ""progeria 1 (Hutchinson-Gilford type)"", ""lamin A/C-like 1"""	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.216C>A	1.37:g.156084925C>A						LMNA_uc001fnf.1_Silent_p.R72R|LMNA_uc001fng.2_Silent_p.R72R|LMNA_uc001fnh.2_Silent_p.R72R|LMNA_uc009wro.1_Silent_p.R72R	p.R72R	NM_170707	NP_733821	P02545	LMNA_HUMAN			1	465	+	Hepatocellular(266;0.158)		72			Interaction with MLIP.|Linker 1.|Rod.		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Silent	SNP	ENST00000368300.4	37	c.216C>A	CCDS1129.1																																																																																				PASS	0.657	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		12	14	12	14	---	---	---	---
FCRL4	83417	broad.mit.edu	37	1	157548273	157548273	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:157548273C>T	ENST00000271532.1	-	10	1555	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	474					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E474K(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CCTTCCTCTTCTTCTCCCAGC	0.408																																						uc001fqw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(1420-1422)GAA>AAA		Fc receptor-like 4 precursor							114.0	110.0	112.0					1																	157548273		2203	4300	6503	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157548273C>T	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1420G>A	1.37:g.157548273C>T	ENSP00000271532:p.Glu474Lys					FCRL4_uc010phy.1_RNA	p.E474K	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			10	1556	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	474			Cytoplasmic (Potential).		Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.1420G>A	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305682	0.40795	.	.	ENSG00000163518	ENST00000271532	T	0.18657	2.2	3.82	1.8	0.24995	.	0.664129	0.12347	N	0.476922	T	0.04861	0.0131	L	0.39514	1.22	0.09310	N	1	B	0.29988	0.264	B	0.31547	0.132	T	0.43877	-0.9364	10	0.15499	T	0.54	.	5.5552	0.17113	0.0:0.7161:0.0:0.2839	.	474	Q96PJ5	FCRL4_HUMAN	K	474	ENSP00000271532:E474K	ENSP00000271532:E474K	E	-	1	0	FCRL4	155814897	0.008000	0.16893	0.015000	0.15790	0.016000	0.09150	0.437000	0.21543	0.316000	0.23135	0.655000	0.94253	GAA		PASS	0.408	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		19	179	19	179	---	---	---	---
CD1B	910	broad.mit.edu	37	1	158299295	158299295	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:158299295C>A	ENST00000368168.3	-	4	858	c.751G>T	c.(751-753)Ggg>Tgg	p.G251W		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	251	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.G251W(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AGGATGTCCCCTAGCTGAGTG	0.607																																						uc001frx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(751-753)GGG>TGG		CD1B antigen precursor							142.0	126.0	132.0					1																	158299295		2203	4300	6503	SO:0001583	missense	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158299295C>A	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.751G>T	1.37:g.158299295C>A	ENSP00000357150:p.Gly251Trp					CD1B_uc001frw.2_Intron	p.G251W	NM_001764	NP_001755	P29016	CD1B_HUMAN			4	859	-	all_hematologic(112;0.0378)		251			Extracellular (Potential).|Ig-like.		Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.751G>T	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	C	8.554	0.876198	0.17395	.	.	ENSG00000158485	ENST00000368168	T	0.03004	4.08	4.26	1.18	0.20946	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.740764	0.11558	N	0.552089	T	0.11495	0.0280	H	0.94503	3.545	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04811	-1.0925	10	0.87932	D	0	-8.4023	5.5307	0.16983	0.0:0.61:0.0:0.39	.	251	P29016	CD1B_HUMAN	W	251	ENSP00000357150:G251W	ENSP00000357150:G251W	G	-	1	0	CD1B	156565919	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.024000	0.13555	0.480000	0.27534	-0.345000	0.07892	GGG		PASS	0.607	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		123	154	123	154	---	---	---	---
OR10R2	343406	broad.mit.edu	37	1	158449987	158449987	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:158449987C>T	ENST00000368152.1	+	1	320	c.320C>T	c.(319-321)tCt>tTt	p.S107F	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S107F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					AATCTACTTTCTGTGGCCAGG	0.443																																						uc010pik.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|skin(1)	3						c.(319-321)TCT>TTT		olfactory receptor, family 10, subfamily R,							345.0	293.0	311.0					1																	158449987		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158449987C>T	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.320C>T	1.37:g.158449987C>T	ENSP00000357134:p.Ser107Phe					uc001fso.1_RNA	p.S107F	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN			1	320	+	all_hematologic(112;0.0378)		107			Extracellular (Potential).		Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.320C>T	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	c	14.22	2.471645	0.43942	.	.	ENSG00000198965	ENST00000368152	T	0.00414	7.52	4.28	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00468	0.0015	M	0.75264	2.295	0.19300	N	0.999973	D	0.71674	0.998	D	0.70227	0.968	T	0.52442	-0.8575	9	0.51188	T	0.08	.	10.0082	0.41970	0.0:0.901:0.0:0.099	.	107	Q8NGX6	O10R2_HUMAN	F	107	ENSP00000357134:S107F	ENSP00000357134:S107F	S	+	2	0	OR10R2	156716611	0.000000	0.05858	0.997000	0.53966	0.984000	0.73092	0.009000	0.13219	2.170000	0.68504	0.655000	0.94253	TCT		PASS	0.443	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		32	648	32	648	---	---	---	---
OR10J1	26476	broad.mit.edu	37	1	159409591	159409591	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:159409591G>A	ENST00000423932.3	+	1	80	c.43G>A	c.(43-45)Gag>Aag	p.E15K	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	15					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E171K(1)|p.E15K(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CATGAAAAGAGAGAACTTTAC	0.383																																						uc010piv.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(43-45)GAG>AAG		olfactory receptor, family 10, subfamily J,							145.0	139.0	141.0					1																	159409591		2203	4300	6503	SO:0001583	missense	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159409591G>A	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.43G>A	1.37:g.159409591G>A	ENSP00000399078:p.Glu15Lys					uc001fts.3_Intron	p.E15K	NM_012351	NP_036483	P30954	O10J1_HUMAN			1	43	+	all_hematologic(112;0.0429)		15			Extracellular (Potential).		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	c.43G>A	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	G	3.181	-0.167953	0.06461	.	.	ENSG00000196184	ENST00000423932	T	0.19394	2.15	4.25	0.96	0.19631	.	0.984810	0.08247	N	0.975190	T	0.02418	0.0074	N	0.13272	0.32	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44636	-0.9315	10	0.07030	T	0.85	.	4.5754	0.12230	0.213:0.3763:0.4106:0.0	.	15	P30954	O10J1_HUMAN	K	15	ENSP00000399078:E15K	ENSP00000399078:E15K	E	+	1	0	OR10J1	157676215	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.251000	0.18257	0.476000	0.27440	0.563000	0.77884	GAG		PASS	0.383	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		15	327	15	327	---	---	---	---
VANGL2	57216	broad.mit.edu	37	1	160394055	160394055	+	Silent	SNP	G	G	C	rs572362079		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:160394055G>C	ENST00000368061.2	+	7	1761	c.1287G>C	c.(1285-1287)acG>acC	p.T429T		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	429					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)		p.T429T(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTGCATCACGCATGACATGA	0.562																																						uc001fwb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1285-1287)ACG>ACC		vang-like 2							131.0	95.0	107.0					1																	160394055		2203	4300	6503	SO:0001819	synonymous_variant	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160394055G>C	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1287G>C	1.37:g.160394055G>C						VANGL2_uc001fwc.1_Silent_p.T429T	p.T429T	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		8	1586	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		429			Cytoplasmic (Potential).		D3DVE9|Q5T212	Silent	SNP	ENST00000368061.2	37	c.1287G>C	CCDS30915.1																																																																																				PASS	0.562	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		37	46	37	46	---	---	---	---
DDR2	4921	broad.mit.edu	37	1	162745571	162745571	+	Silent	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:162745571C>T	ENST00000367922.3	+	16	2424	c.1986C>T	c.(1984-1986)ctC>ctT	p.L662L	RN7SL861P_ENST00000473793.2_RNA|DDR2_ENST00000367921.3_Silent_p.L662L	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	662	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L662L(2)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	ATGGAGATCTCAATCAGTTTC	0.488																																					NSCLC(161;314 2006 8283 19651 23192)	uc001gcf.2																			2	Substitution - coding silent(2)		lung(2)	lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6						c.(1984-1986)CTC>CTT		discoidin domain receptor family, member 2							141.0	136.0	138.0					1																	162745571		2203	4300	6503	SO:0001819	synonymous_variant	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162745571C>T	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.1986C>T	1.37:g.162745571C>T						DDR2_uc001gcg.2_Silent_p.L662L	p.L662L	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		16	2451	+	all_hematologic(112;0.115)		662			Cytoplasmic (Potential).|Protein kinase.		Q7Z730	Silent	SNP	ENST00000367922.3	37	c.1986C>T	CCDS1241.1																																																																																				PASS	0.488	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		48	253	48	253	---	---	---	---
F5	2153	broad.mit.edu	37	1	169510160	169510160	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:169510160C>G	ENST00000367797.3	-	13	4369	c.4168G>C	c.(4168-4170)Gag>Cag	p.E1390Q	F5_ENST00000367796.3_Missense_Mutation_p.E1395Q	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1390	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.E1390Q(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AGGGGCATCTCACTGAGGTCT	0.512																																						uc001ggg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(4168-4170)GAG>CAG		coagulation factor V precursor	Drotrecogin alfa(DB00055)						128.0	141.0	136.0					1																	169510160		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510160C>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4168G>C	1.37:g.169510160C>G	ENSP00000356771:p.Glu1390Gln						p.E1390Q	NM_000130	NP_000121	P12259	FA5_HUMAN			13	4313	-	all_hematologic(923;0.208)		1390			2-23.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.4168G>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	N	0.005	-2.193014	0.00302	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.22336	1.96;1.96	2.58	-0.603	0.11630	.	0.846155	0.10901	N	0.621658	T	0.01092	0.0036	N	0.00666	-1.275	0.21147	N	0.999774	B	0.11235	0.004	B	0.06405	0.002	T	0.48258	-0.9051	9	0.02654	T	1	-1.5965	7.4985	0.27503	0.0:0.2818:0.5513:0.1669	.	1390	P12259	FA5_HUMAN	Q	1390;1395	ENSP00000356771:E1390Q;ENSP00000356770:E1395Q	ENSP00000356770:E1395Q	E	-	1	0	F5	167776784	0.026000	0.19158	0.000000	0.03702	0.003000	0.03518	0.143000	0.16115	-0.088000	0.12506	-1.210000	0.01631	GAG		PASS	0.512	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		156	182	156	182	---	---	---	---
AXDND1	126859	broad.mit.edu	37	1	179502981	179502981	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:179502981G>T	ENST00000367618.3	+	24	3154	c.2767G>T	c.(2767-2769)Gct>Tct	p.A923S		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	923	Glu-rich.							p.A923S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TGAAGCAATGGCTGTAATTGA	0.388																																						uc001gmo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2767-2769)GCT>TCT		hypothetical protein LOC126859 isoform 1							161.0	148.0	153.0					1																	179502981		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179502981G>T	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2767G>T	1.37:g.179502981G>T	ENSP00000356590:p.Ala923Ser					C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.A849S|C1orf125_uc009wxh.2_RNA	p.A923S	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			24	2894	+			923			Glu-rich.		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.2767G>T	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	4.112	0.018919	0.08006	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.21031	2.03;2.03	4.5	-2.58	0.06228	.	0.638882	0.14803	N	0.297485	T	0.09335	0.0230	L	0.27053	0.805	0.58432	D	0.999999	B;B	0.25667	0.131;0.131	B;B	0.22386	0.039;0.039	T	0.35450	-0.9788	10	0.09590	T	0.72	-2.0545	4.5012	0.11865	0.3943:0.3031:0.3026:0.0	.	807;923	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	S	923;807;783	ENSP00000356590:A923S;ENSP00000391716:A783S	ENSP00000353471:A807S	A	+	1	0	AXDND1	177769604	0.003000	0.15002	0.936000	0.37596	0.938000	0.57974	-0.668000	0.05268	-0.617000	0.05664	-0.136000	0.14681	GCT		PASS	0.388	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		94	108	94	108	---	---	---	---
FAM163A	148753	broad.mit.edu	37	1	179783283	179783283	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:179783283G>A	ENST00000341785.4	+	5	859	c.463G>A	c.(463-465)Gag>Aag	p.E155K	RP11-12M5.3_ENST00000453051.1_RNA|RP11-12M5.3_ENST00000415218.1_RNA	NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	155						integral component of membrane (GO:0016021)		p.E155K(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						CTCTGGGCGTGAGGCCTTCAC	0.612																																						uc009wxj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(463-465)GAG>AAG		hypothetical protein LOC148753							65.0	76.0	72.0					1																	179783283		2203	4300	6503	SO:0001583	missense	148753					integral to membrane		g.chr1:179783283G>A	BC009382	CCDS1333.1	1q25.2	2008-06-05	2008-06-05	2008-06-05	ENSG00000143340	ENSG00000143340			28274	protein-coding gene	gene with protein product		611727	"""chromosome 1 open reading frame 76"""	C1orf76		12477932	Standard	NM_173509		Approved	MGC16664	uc001gnj.3	Q96GL9	OTTHUMG00000035262	ENST00000341785.4:c.463G>A	1.37:g.179783283G>A	ENSP00000354891:p.Glu155Lys					FAM163A_uc001gnj.2_Missense_Mutation_p.E155K|FAM163A_uc009wxk.2_Missense_Mutation_p.E155K	p.E155K	NM_173509	NP_775780	Q96GL9	F163A_HUMAN			6	922	+			155					A8K8R7	Missense_Mutation	SNP	ENST00000341785.4	37	c.463G>A	CCDS1333.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395125	0.62066	.	.	ENSG00000143340	ENST00000341785	.	.	.	4.67	4.67	0.58626	.	0.189391	0.45867	D	0.000326	T	0.74764	0.3759	M	0.63843	1.955	0.46376	D	0.999012	D	0.71674	0.998	D	0.63957	0.92	T	0.78109	-0.2332	9	0.72032	D	0.01	-14.6102	15.7138	0.77652	0.0:0.0:1.0:0.0	.	155	Q96GL9	F163A_HUMAN	K	155	.	ENSP00000354891:E155K	E	+	1	0	FAM163A	178049906	1.000000	0.71417	0.963000	0.40424	0.048000	0.14542	6.227000	0.72282	2.315000	0.78130	0.563000	0.77884	GAG		PASS	0.612	FAM163A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085300.1	NM_173509		10	234	10	234	---	---	---	---
TOR1AIP2	163590	broad.mit.edu	37	1	179820126	179820126	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:179820126G>C	ENST00000367612.3	-	4	794	c.407C>G	c.(406-408)tCt>tGt	p.S136C	TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.S136C	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	0								p.S136C(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GAGGGCCACAGAGCTGCTCCC	0.542																																						uc001gnk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(406-408)TCT>TGT		torsin A interacting protein 2							98.0	93.0	95.0					1																	179820126		2203	4300	6503	SO:0001583	missense	163590					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:179820126G>C		CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.407C>G	1.37:g.179820126G>C	ENSP00000356584:p.Ser136Cys					TOR1AIP2_uc001gnl.2_Missense_Mutation_p.S136C	p.S136C	NM_145034	NP_659471	Q8NFQ8	TOIP2_HUMAN			4	795	-			136					Q05BU2	Missense_Mutation	SNP	ENST00000367612.3	37	c.407C>G	CCDS1334.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507671	0.44558	.	.	ENSG00000169905	ENST00000367612	T	0.24538	1.85	5.46	3.54	0.40534	.	0.399171	0.22504	N	0.059185	T	0.27731	0.0682	M	0.68317	2.08	0.28500	N	0.914061	B	0.23735	0.09	B	0.29663	0.105	T	0.17623	-1.0363	10	0.38643	T	0.18	-0.9715	8.8747	0.35339	0.0:0.1636:0.6665:0.1699	.	136	Q8NFQ8	TOIP2_HUMAN	C	136	ENSP00000356584:S136C	ENSP00000356584:S136C	S	-	2	0	TOR1AIP2	178086749	0.009000	0.17119	0.317000	0.25265	0.132000	0.20833	1.244000	0.32778	0.624000	0.30286	0.655000	0.94253	TCT		PASS	0.542	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085304.1	NM_145034		6	246	6	246	---	---	---	---
RNASEL	6041	broad.mit.edu	37	1	182544681	182544681	+	Missense_Mutation	SNP	T	T	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:182544681T>C	ENST00000367559.3	-	7	2325	c.2072A>G	c.(2071-2073)tAt>tGt	p.Y691C	RNASEL_ENST00000444138.1_Missense_Mutation_p.Y691C	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	691	KEN. {ECO:0000255|PROSITE- ProRule:PRU00725}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)	p.Y691C(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CTTCTGAAAATACAGGGAAGG	0.393																																						uc001gpj.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|stomach(1)	5						c.(2071-2073)TAT>TGT		ribonuclease L							96.0	92.0	93.0					1																	182544681		2203	4300	6503	SO:0001583	missense	6041	Hereditary_Prostate_Cancer			mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182544681T>C	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.2072A>G	1.37:g.182544681T>C	ENSP00000356530:p.Tyr691Cys					RNASEL_uc009wxz.1_Missense_Mutation_p.Y691C	p.Y691C	NM_021133	NP_066956	Q05823	RN5A_HUMAN			6	2239	-			691			KEN.		Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	c.2072A>G	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.337202	0.41398	.	.	ENSG00000135828	ENST00000367559;ENST00000444138	T;T	0.57595	0.39;0.39	5.11	3.94	0.45596	PUG domain (1);KEN domain, ribonuclease activator (2);	0.000000	0.53938	D	0.000057	T	0.70413	0.3221	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71852	-0.4467	10	0.87932	D	0	-24.7274	8.9761	0.35937	0.1653:0.0:0.0:0.8347	.	691	Q05823	RN5A_HUMAN	C	691	ENSP00000356530:Y691C;ENSP00000411147:Y691C	ENSP00000356530:Y691C	Y	-	2	0	RNASEL	180811304	1.000000	0.71417	0.957000	0.39632	0.343000	0.28985	4.024000	0.57218	0.838000	0.34948	0.533000	0.62120	TAT		PASS	0.393	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		78	107	78	107	---	---	---	---
CFHR2	3080	broad.mit.edu	37	1	196928158	196928158	+	Missense_Mutation	SNP	G	G	A	rs370528458		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:196928158G>A	ENST00000367415.5	+	5	861	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.R254Q|CFHR2_ENST00000476712.2_Missense_Mutation_p.R238Q	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	254	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)		p.R254Q(1)		large_intestine(2)|ovary(1)|skin(3)	6						CATTCATTTCGAGCAATGTGT	0.323																																						uc001gtq.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(760-762)CGA>CAA		H factor (complement)-like 3 precursor							50.0	52.0	51.0					1																	196928158		2203	4293	6496	SO:0001583	missense	3080					extracellular region		g.chr1:196928158G>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.761G>A	1.37:g.196928158G>A	ENSP00000356385:p.Arg254Gln					CFHR2_uc001gtr.1_Missense_Mutation_p.R130Q	p.R254Q	NM_005666	NP_005657	P36980	FHR2_HUMAN			5	838	+			254			Sushi 4.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	37	c.761G>A	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	8.340	0.828483	0.16749	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	D;D	0.84223	-1.82;-1.82	3.52	-1.19	0.09585	Complement control module (2);Sushi/SCR/CCP (2);	0.329287	0.17109	N	0.186673	T	0.73992	0.3658	M	0.62723	1.935	0.09310	N	1	P;B	0.47604	0.898;0.094	B;B	0.40165	0.321;0.025	T	0.64491	-0.6395	10	0.15499	T	0.54	.	1.1776	0.01838	0.2162:0.1697:0.4405:0.1736	.	227;254	P36980-2;P36980	.;FHR2_HUMAN	Q	254	ENSP00000356391:R254Q;ENSP00000356385:R254Q	ENSP00000356385:R254Q	R	+	2	0	CFHR2	195194781	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.331000	0.07914	-0.088000	0.12506	-1.330000	0.01273	CGA		PASS	0.323	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		69	72	69	72	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197072279	197072279	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:197072279C>A	ENST00000367409.4	-	18	6358	c.6102G>T	c.(6100-6102)atG>atT	p.M2034I	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2034	IQ 14. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.M2034I(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCTCACTTTCATACCACGAT	0.328																																						uc001gtu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(6100-6102)ATG>ATT		asp (abnormal spindle)-like, microcephaly							98.0	102.0	100.0					1																	197072279		2203	4298	6501	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072279C>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6102G>T	1.37:g.197072279C>A	ENSP00000356379:p.Met2034Ile					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	p.M2034I	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	6359	-			2034			IQ 14.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.6102G>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	c	13.61	2.289394	0.40494	.	.	ENSG00000066279	ENST00000367409	T	0.26223	1.75	5.57	2.35	0.29111	.	0.647030	0.16277	N	0.221514	T	0.45155	0.1328	M	0.89840	3.065	0.80722	D	1	D	0.55800	0.973	P	0.57720	0.826	T	0.42865	-0.9426	10	0.23302	T	0.38	.	5.5312	0.16985	0.1436:0.6377:0.1387:0.0799	.	2034	Q8IZT6	ASPM_HUMAN	I	2034	ENSP00000356379:M2034I	ENSP00000356379:M2034I	M	-	3	0	ASPM	195338902	0.993000	0.37304	0.419000	0.26584	0.996000	0.88848	3.106000	0.50322	0.639000	0.30564	0.632000	0.83419	ATG		PASS	0.328	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		55	387	55	387	---	---	---	---
PTPRC	5788	broad.mit.edu	37	1	198717314	198717314	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:198717314C>T	ENST00000367376.2	+	27	3089	c.2918C>T	c.(2917-2919)tCt>tTt	p.S973F	PTPRC_ENST00000348564.6_Missense_Mutation_p.S814F|PTPRC_ENST00000594404.1_Missense_Mutation_p.S812F|PTPRC_ENST00000352140.3_Missense_Mutation_p.S925F|PTPRC_ENST00000442510.2_Missense_Mutation_p.S975F	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	973	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S973F(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AACAGGAATTCTAATGTCATC	0.294																																						uc001gur.1																			1	Substitution - Missense(1)		lung(1)	breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(2917-2919)TCT>TTT		protein tyrosine phosphatase, receptor type, C							18.0	19.0	18.0					1																	198717314		2026	4148	6174	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198717314C>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2918C>T	1.37:g.198717314C>T	ENSP00000356346:p.Ser973Phe					PTPRC_uc001gus.1_Missense_Mutation_p.S925F|PTPRC_uc001gut.1_Missense_Mutation_p.S812F	p.S973F	NM_002838	NP_002829	P08575	PTPRC_HUMAN			27	3098	+			973			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.2918C>T		.	.	.	.	.	.	.	.	.	.	C	20.9	4.071804	0.76301	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	D	0.84516	-1.86	5.67	5.67	0.87782	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.276950	0.26176	N	0.025900	D	0.92427	0.7596	M	0.76002	2.32	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.994	D;D;D	0.80764	0.992;0.994;0.959	D	0.92088	0.5678	10	0.54805	T	0.06	.	19.7705	0.96361	0.0:1.0:0.0:0.0	.	814;925;973	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	F	975;925;973;812	ENSP00000193532:S925F	ENSP00000306782:S812F	S	+	2	0	PTPRC	196983937	1.000000	0.71417	0.959000	0.39883	0.803000	0.45373	6.311000	0.72835	2.669000	0.90835	0.655000	0.94253	TCT		PASS	0.294	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				13	65	13	65	---	---	---	---
RNPEP	6051	broad.mit.edu	37	1	201958560	201958560	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:201958560G>A	ENST00000295640.4	+	3	681	c.638G>A	c.(637-639)aGa>aAa	p.R213K	RNPEP_ENST00000471105.1_Intron|RNPEP_ENST00000367286.3_Missense_Mutation_p.R213K	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	213					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)	p.R213K(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TGGGAGAAGAGAGGTCCAAAT	0.498																																					GBM(19;39 479 7473 13131 19462)	uc001gxd.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(637-639)AGA>AAA		arginyl aminopeptidase							138.0	131.0	134.0					1																	201958560		2203	4300	6503	SO:0001583	missense	6051				leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	g.chr1:201958560G>A	BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.638G>A	1.37:g.201958560G>A	ENSP00000295640:p.Arg213Lys					RNPEP_uc001gxe.2_Intron|RNPEP_uc001gxf.2_Missense_Mutation_p.R82K	p.R213K	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)	3	667	+			213					Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	ENST00000295640.4	37	c.638G>A	CCDS1418.1	.	.	.	.	.	.	.	.	.	.	G	9.262	1.043374	0.19748	.	.	ENSG00000176393	ENST00000295640;ENST00000367286;ENST00000447312	T;T;T	0.02395	4.31;4.31;4.31	5.7	5.7	0.88788	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.228663	0.36409	N	0.002606	T	0.01523	0.0049	N	0.01640	-0.785	0.09310	N	0.999999	B;B	0.26672	0.156;0.075	B;B	0.36030	0.216;0.145	T	0.50423	-0.8830	10	0.06625	T	0.88	-8.5698	12.0085	0.53274	0.0799:0.0:0.9201:0.0	.	221;213	Q7RU04;Q9H4A4	.;AMPB_HUMAN	K	213;213;82	ENSP00000295640:R213K;ENSP00000356255:R213K;ENSP00000389602:R82K	ENSP00000295640:R213K	R	+	2	0	RNPEP	200225183	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.000000	0.40816	2.680000	0.91292	0.655000	0.94253	AGA		PASS	0.498	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		11	231	11	231	---	---	---	---
PLEKHA6	22874	broad.mit.edu	37	1	204210871	204210871	+	Silent	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:204210871G>T	ENST00000272203.3	-	16	2560	c.2244C>A	c.(2242-2244)atC>atA	p.I748I	PLEKHA6_ENST00000414478.1_Silent_p.I768I	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	748								p.I748I(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GCACAAGGCTGATGTCTCTGG	0.532																																						uc001hau.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(2242-2244)ATC>ATA		phosphoinositol 3-phosphate-binding protein-3							128.0	121.0	124.0					1																	204210871		2203	4300	6503	SO:0001819	synonymous_variant	22874							g.chr1:204210871G>T	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2244C>A	1.37:g.204210871G>T						PLEKHA6_uc009xau.1_RNA	p.I748I	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		16	2561	-	all_cancers(21;0.0222)|Breast(84;0.179)		748					A7MD51|Q5VTI6	Silent	SNP	ENST00000272203.3	37	c.2244C>A	CCDS1444.1																																																																																				PASS	0.532	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		32	206	32	206	---	---	---	---
CNTN2	6900	broad.mit.edu	37	1	205033472	205033472	+	Silent	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:205033472G>T	ENST00000331830.4	+	11	1547	c.1263G>T	c.(1261-1263)ctG>ctT	p.L421L	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	421	Ig-like C2-type 5.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)	p.L421L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACTTCAGGCTGAATCCCGTGA	0.602																																					Melanoma(183;2548 2817 37099 41192)	uc001hbr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1261-1263)CTG>CTT		contactin 2 precursor							144.0	153.0	150.0					1																	205033472		2203	4299	6502	SO:0001819	synonymous_variant	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205033472G>T	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1263G>T	1.37:g.205033472G>T						CNTN2_uc001hbq.1_Silent_p.L312L|CNTN2_uc001hbs.2_Silent_p.L209L	p.L421L	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		11	1532	+	all_cancers(21;0.144)|Breast(84;0.0437)		421			Ig-like C2-type 5.		P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	c.1263G>T	CCDS1449.1																																																																																				PASS	0.602	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		224	267	224	267	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215914767	215914767	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:215914767C>A	ENST00000307340.3	-	60	12047	c.11661G>T	c.(11659-11661)tgG>tgT	p.W3887C	USH2A_ENST00000366943.2_Missense_Mutation_p.W3887C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3887	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.W3887C(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAGGTGGCATCCACTTAATCT	0.383										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(11659-11661)TGG>TGT		usherin isoform B							153.0	156.0	155.0					1																	215914767		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215914767C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11661G>T	1.37:g.215914767C>A	ENSP00000305941:p.Trp3887Cys	HNSCC(13;0.011)					p.W3887C	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	60	12048	-			3887			Fibronectin type-III 24.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.11661G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679464	0.68042	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	D;D	0.84223	-1.82;-1.82	5.38	5.38	0.77491	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.42548	D	0.000686	D	0.94755	0.8307	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.95649	0.8705	10	0.87932	D	0	.	19.3333	0.94303	0.0:1.0:0.0:0.0	.	3887	O75445	USH2A_HUMAN	C	3887	ENSP00000305941:W3887C;ENSP00000355910:W3887C	ENSP00000305941:W3887C	W	-	3	0	USH2A	213981390	1.000000	0.71417	0.677000	0.29947	0.776000	0.43924	5.896000	0.69822	2.793000	0.96121	0.655000	0.94253	TGG		PASS	0.383	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		101	199	101	199	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228506760	228506760	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:228506760G>T	ENST00000422127.1	+	54	14351	c.14307G>T	c.(14305-14307)caG>caT	p.Q4769H	OBSCN_ENST00000284548.11_Missense_Mutation_p.Q4769H|OBSCN_ENST00000366707.4_Missense_Mutation_p.Q2403H|OBSCN_ENST00000570156.2_Missense_Mutation_p.Q5726H|OBSCN_ENST00000366709.4_Missense_Mutation_p.Q1888H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4769					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.Q5481H(1)|p.Q4769H(1)|p.Q5351H(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCGCTCGCAGCGCCTGCCAC	0.647																																						uc009xez.1																			3	Substitution - Missense(3)		lung(3)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(14305-14307)CAG>CAT		obscurin, cytoskeletal calmodulin and							21.0	26.0	24.0					1																	228506760		2196	4292	6488	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228506760G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.14307G>T	1.37:g.228506760G>T	ENSP00000409493:p.Gln4769His					OBSCN_uc001hsn.2_Missense_Mutation_p.Q4769H	p.Q4769H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			54	14351	+		Prostate(94;0.0405)	4769					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.14307G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010784	0.35511	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.65916	0.22;-0.18;-0.12;0.37	4.03	2.11	0.27256	.	0.478552	0.18011	N	0.154573	T	0.45895	0.1365	L	0.29908	0.895	0.31588	N	0.654303	B;B	0.21905	0.062;0.043	B;B	0.23018	0.028;0.043	T	0.44636	-0.9315	10	0.29301	T	0.29	.	8.4281	0.32742	0.0823:0.0:0.7648:0.1529	.	4769;4769	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	H	4769;4769;2403;1888	ENSP00000284548:Q4769H;ENSP00000409493:Q4769H;ENSP00000355668:Q2403H;ENSP00000355670:Q1888H	ENSP00000284548:Q4769H	Q	+	3	2	OBSCN	226573383	0.998000	0.40836	0.078000	0.20375	0.010000	0.07245	2.801000	0.47908	0.358000	0.24211	-0.671000	0.03813	CAG		PASS	0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		8	8	8	8	---	---	---	---
AGT	183	broad.mit.edu	37	1	230838998	230838998	+	Silent	SNP	A	A	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:230838998A>T	ENST00000366667.4	-	5	1561	c.1347T>A	c.(1345-1347)ccT>ccA	p.P449P		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	449					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)	p.P449P(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCAAGACCTCAGGCTTGTTAA	0.547																																						uc001hty.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1345-1347)CCT>CCA		angiotensinogen preproprotein	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						157.0	143.0	148.0					1																	230838998		2203	4300	6503	SO:0001819	synonymous_variant	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230838998A>T	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.1347T>A	1.37:g.230838998A>T						AGT_uc009xfe.2_3'UTR|AGT_uc009xff.2_Silent_p.P421P	p.P449P	NM_000029	NP_000020	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	5	1855	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	449					Q16358|Q16359|Q96F91	Silent	SNP	ENST00000366667.4	37	c.1347T>A	CCDS1585.1																																																																																				PASS	0.547	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		65	123	65	123	---	---	---	---
TRIM67	440730	broad.mit.edu	37	1	231349681	231349681	+	Silent	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:231349681C>T	ENST00000366653.5	+	9	2244	c.2244C>T	c.(2242-2244)gaC>gaT	p.D748D	TRIM67_ENST00000449018.3_Silent_p.D686D|TRIM67_ENST00000366652.2_Intron|TRIM67_ENST00000444294.3_Silent_p.D746D			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	748	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)	p.D748D(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GCCACGTGGACGGGGTCTTCA	0.637																																						uc009xfn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|kidney(1)	4						c.(2242-2244)GAC>GAT		tripartite motif-containing 67							51.0	59.0	57.0					1																	231349681		2134	4229	6363	SO:0001819	synonymous_variant	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231349681C>T	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.2244C>T	1.37:g.231349681C>T							p.D748D	NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN			9	2286	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	748			B30.2/SPRY.		Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	ENST00000366653.5	37	c.2244C>T	CCDS44333.1																																																																																				PASS	0.637	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		5	84	5	84	---	---	---	---
GNPAT	8443	broad.mit.edu	37	1	231374720	231374720	+	5'Flank	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:231374720G>A	ENST00000366647.4	+	0	0				C1orf131_ENST00000366649.2_Silent_p.I111I|C1orf131_ENST00000366651.3_Silent_p.I111I|GNPAT_ENST00000366646.3_5'Flank|C1orf131_ENST00000471936.1_5'UTR|C1orf131_ENST00000318906.2_Silent_p.I111I	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase						cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.I111I(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CAGCAGCAAGGATCTCTGGTC	0.478																																						uc001hun.1																			2	Substitution - coding silent(2)		lung(1)|breast(1)	central_nervous_system(1)|skin(1)	2						c.(331-333)ATC>ATT		hypothetical protein LOC128061							73.0	76.0	75.0					1																	231374720		2203	4300	6503	SO:0001631	upstream_gene_variant	128061							g.chr1:231374720G>A	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024		1.37:g.231374720G>A	Exception_encountered					C1orf131_uc001hul.2_Silent_p.I111I|C1orf131_uc001hum.2_Silent_p.I111I|C1orf131_uc010pwd.1_Silent_p.I111I|C1orf131_uc001huo.1_Silent_p.I111I|GNPAT_uc009xfo.1_5'Flank|GNPAT_uc001hup.3_5'Flank|GNPAT_uc009xfp.2_5'Flank	p.I111I	NM_152379	NP_689592	Q8NDD1	CA131_HUMAN			2	370	-	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	111					B4DNM9|Q5TBH7|Q9BWC2	Silent	SNP	ENST00000366647.4	37	c.333C>T	CCDS1592.1																																																																																				PASS	0.478	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			65	114	65	114	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232539917	232539917	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:232539917G>T	ENST00000366630.1	-	19	5128	c.4770C>A	c.(4768-4770)gaC>gaA	p.D1590E	SIPA1L2_ENST00000308942.4_Intron|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D1590E			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1590					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.D1590E(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTTCATCTGAGTCAAGACCTG	0.458																																						uc001hvg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(4768-4770)GAC>GAA		signal-induced proliferation-associated 1 like							84.0	85.0	85.0					1																	232539917		1940	4134	6074	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232539917G>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4770C>A	1.37:g.232539917G>T	ENSP00000355589:p.Asp1590Glu					SIPA1L2_uc001hvf.2_Intron	p.D1590E	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			18	4928	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1590					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.4770C>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	6.296	0.422639	0.11928	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.78003	-1.14;-1.14	5.5	4.59	0.56863	.	0.144113	0.49916	D	0.000133	T	0.75221	0.3820	N	0.19112	0.55	0.29629	N	0.8456	D	0.63046	0.992	D	0.79108	0.992	T	0.66073	-0.6014	10	0.02654	T	1	-14.0018	13.0059	0.58703	0.0742:0.0:0.9258:0.0	.	1590	Q9P2F8	SI1L2_HUMAN	E	1590	ENSP00000355589:D1590E;ENSP00000262861:D1590E	ENSP00000262861:D1590E	D	-	3	2	SIPA1L2	230606540	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.557000	0.60782	1.574000	0.49760	0.650000	0.86243	GAC		PASS	0.458	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		3	77	3	77	---	---	---	---
ARID4B	51742	broad.mit.edu	37	1	235345964	235345964	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:235345964G>A	ENST00000264183.3	-	20	2767	c.2270C>T	c.(2269-2271)tCa>tTa	p.S757L	ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Missense_Mutation_p.S671L|ARID4B_ENST00000366603.2_Missense_Mutation_p.S757L	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	757					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S757L(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TAGCAAAGATGAACTGTTCTG	0.343																																						uc001hwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(2269-2271)TCA>TTA		AT rich interactive domain 4B isoform 1							110.0	103.0	105.0					1																	235345964		2203	4299	6502	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235345964G>A	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2270C>T	1.37:g.235345964G>A	ENSP00000264183:p.Ser757Leu					ARID4B_uc001hwr.2_Missense_Mutation_p.S671L|ARID4B_uc001hws.3_Missense_Mutation_p.S671L|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Missense_Mutation_p.S438L	p.S757L	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		20	2768	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	757					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.2270C>T	CCDS31061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.476|9.476	1.096888|1.096888	0.20552|0.20552	.|.	.|.	ENSG00000054267|ENSG00000054267	ENST00000444620|ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183	.|T;T;T	.|0.24723	.|1.85;1.84;1.84	5.91|5.91	3.73|3.73	0.42828|0.42828	.|.	.|1.083800	.|0.07015	.|N	.|0.825723	T|T	0.15046|0.15046	0.0363|0.0363	N|N	0.08118|0.08118	0|0	0.35539|0.35539	D|D	0.802862|0.802862	.|B;B;B;B	.|0.06786	.|0.001;0.0;0.001;0.0	.|B;B;B;B	.|0.08055	.|0.003;0.002;0.003;0.0	T|T	0.10590|0.10590	-1.0623|-1.0623	5|10	.|0.29301	.|T	.|0.29	-0.591|-0.591	9.9884|9.9884	0.41856|0.41856	0.2763:0.0:0.7237:0.0|0.2763:0.0:0.7237:0.0	.|.	.|438;757;671;757	.|Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39	.|.;.;.;ARI4B_HUMAN	Y|L	157|757;671;757;757	.|ENSP00000264184:S671L;ENSP00000355562:S757L;ENSP00000264183:S757L	.|ENSP00000264183:S757L	H|S	-|-	1|2	0|0	ARID4B|ARID4B	233412587|233412587	0.976000|0.976000	0.34144|0.34144	0.995000|0.995000	0.50966|0.50966	0.736000|0.736000	0.42039|0.42039	1.567000|1.567000	0.36407|0.36407	1.510000|1.510000	0.48803|0.48803	-0.145000|-0.145000	0.13849|0.13849	CAT|TCA		PASS	0.343	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		12	196	12	196	---	---	---	---
AHCTF1	25909	broad.mit.edu	37	1	247076562	247076562	+	Silent	SNP	T	T	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:247076562T>C	ENST00000391829.2	-	4	651	c.528A>G	c.(526-528)tcA>tcG	p.S176S	AHCTF1_ENST00000366508.1_Silent_p.S211S|AHCTF1_ENST00000326225.3_Silent_p.S185S			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	176	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S176S(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTTGATTGCATGACAAGTCAT	0.398																																					Colon(145;197 1800 4745 15099 26333)	uc001ibu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)	7						c.(526-528)TCA>TCG		transcription factor ELYS							68.0	64.0	65.0					1																	247076562		2203	4300	6503	SO:0001819	synonymous_variant	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247076562T>C		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.528A>G	1.37:g.247076562T>C						AHCTF1_uc001ibv.1_Silent_p.S185S	p.S176S	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		3	535	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	176			Necessary for cytoplasmic localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37	c.528A>G																																																																																					PASS	0.398	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		64	85	64	85	---	---	---	---
OR2T8	343172	broad.mit.edu	37	1	248085040	248085040	+	Missense_Mutation	SNP	T	T	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:248085040T>A	ENST00000319968.4	+	1	721	c.721T>A	c.(721-723)Tca>Aca	p.S241T		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S241T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CACCTGCTCTTCACATGTGGC	0.527																																						uc010pzc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(721-723)TCA>ACA		olfactory receptor, family 2, subfamily T,							15.0	15.0	15.0					1																	248085040		2094	4155	6249	SO:0001583	missense	343172				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248085040T>A		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.721T>A	1.37:g.248085040T>A	ENSP00000326225:p.Ser241Thr						p.S241T	NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	721	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	241			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000319968.4	37	c.721T>A	CCDS31100.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.478303	0.44044	.	.	ENSG00000177462	ENST00000319968	T	0.39056	1.1	3.56	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30959	U	0.008527	T	0.66056	0.2751	M	0.92169	3.28	0.09310	N	0.999993	D	0.69078	0.997	D	0.74348	0.983	T	0.58148	-0.7687	10	0.42905	T	0.14	.	6.8605	0.24064	0.0:0.1147:0.0:0.8853	.	241	A6NH00	OR2T8_HUMAN	T	241	ENSP00000326225:S241T	ENSP00000326225:S241T	S	+	1	0	OR2T8	246151663	0.025000	0.19082	0.149000	0.22428	0.813000	0.45954	0.303000	0.19210	1.481000	0.48307	0.332000	0.21555	TCA		PASS	0.527	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		33	25	33	25	---	---	---	---
OR2M5	127059	broad.mit.edu	37	1	248308530	248308530	+	Silent	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:248308530C>T	ENST00000366476.1	+	1	81	c.81C>T	c.(79-81)ctC>ctT	p.L27L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L27L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ACACCTTCCTCTTCTTTCTGG	0.493																																						uc010pze.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)	3						c.(79-81)CTC>CTT		olfactory receptor, family 2, subfamily M,							212.0	216.0	215.0					1																	248308530		2203	4297	6500	SO:0001819	synonymous_variant	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308530C>T		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.81C>T	1.37:g.248308530C>T							p.L27L	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	81	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		27			Helical; Name=1; (Potential).			Silent	SNP	ENST00000366476.1	37	c.81C>T	CCDS31105.1																																																																																				PASS	0.493	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		18	647	18	647	---	---	---	---
OR2T33	391195	broad.mit.edu	37	1	248436396	248436396	+	Missense_Mutation	SNP	A	A	T	rs371514140		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:248436396A>T	ENST00000318021.2	-	1	742	c.721T>A	c.(721-723)Tca>Aca	p.S241T		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S241T(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCACATGTGAAGAGCAGGTG	0.517																																						uc010pzi.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(721-723)TCA>ACA		olfactory receptor, family 2, subfamily T,							35.0	42.0	40.0					1																	248436396		2202	4296	6498	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436396A>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.721T>A	1.37:g.248436396A>T	ENSP00000324687:p.Ser241Thr						p.S241T	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	721	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		241			Helical; Name=6; (Potential).		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.721T>A	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	13.85	2.359872	0.41801	.	.	ENSG00000177212	ENST00000318021	T	0.39056	1.1	1.77	1.77	0.24775	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30959	U	0.008527	T	0.64670	0.2619	M	0.92555	3.32	0.27553	N	0.950434	D	0.69078	0.997	D	0.74348	0.983	T	0.55003	-0.8208	10	0.41790	T	0.15	.	6.3571	0.21406	0.8549:0.0:0.1451:0.0	.	241	Q8NG76	O2T33_HUMAN	T	241	ENSP00000324687:S241T	ENSP00000324687:S241T	S	-	1	0	OR2T33	246503019	0.008000	0.16893	0.477000	0.27303	0.898000	0.52572	0.008000	0.13197	1.057000	0.40506	0.342000	0.21767	TCA		PASS	0.517	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		4	66	4	66	---	---	---	---
OR2G6	391211	broad.mit.edu	37	1	248685458	248685458	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:248685458C>A	ENST00000343414.4	+	1	543	c.511C>A	c.(511-513)Cat>Aat	p.H171N		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H171N(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTCTGTGGTCATCGCACACT	0.562																																						uc001ien.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(511-513)CAT>AAT		olfactory receptor, family 2, subfamily G,							98.0	86.0	90.0					1																	248685458		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685458C>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.511C>A	1.37:g.248685458C>A	ENSP00000341291:p.His171Asn						p.H171N	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	511	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	171			Extracellular (Potential).		B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.511C>A	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	1.427	-0.571241	0.03882	.	.	ENSG00000188558	ENST00000343414	T	0.36878	1.23	3.68	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.179946	0.27411	U	0.019498	T	0.22166	0.0534	L	0.28400	0.85	0.09310	N	1	B	0.13145	0.007	B	0.18561	0.022	T	0.07597	-1.0764	10	0.30078	T	0.28	.	6.0779	0.19925	0.1894:0.7043:0.0:0.1063	.	171	Q5TZ20	OR2G6_HUMAN	N	171	ENSP00000341291:H171N	ENSP00000341291:H171N	H	+	1	0	OR2G6	246752081	0.000000	0.05858	0.961000	0.40146	0.326000	0.28443	-1.952000	0.01528	1.869000	0.54173	0.400000	0.26472	CAT		PASS	0.562	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		78	73	78	73	---	---	---	---
OR2G6	391211	broad.mit.edu	37	1	248685821	248685821	+	Silent	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr1:248685821C>T	ENST00000343414.4	+	1	906	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L292L(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TATCTACACTCTGAGAAACAA	0.443																																						uc001ien.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(874-876)CTG>TTG		olfactory receptor, family 2, subfamily G,							60.0	62.0	62.0					1																	248685821		2203	4300	6503	SO:0001819	synonymous_variant	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685821C>T		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.874C>T	1.37:g.248685821C>T							p.L292L	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	874	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	292			Helical; Name=7; (Potential).		B2RP33	Silent	SNP	ENST00000343414.4	37	c.874C>T	CCDS31119.1																																																																																				PASS	0.443	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		17	177	17	177	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1843124	1843124	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:1843124G>T	ENST00000399161.2	-	21	3624	c.2877C>A	c.(2875-2877)tgC>tgA	p.C959*	MYT1L_ENST00000428368.2_Nonsense_Mutation_p.C957*|MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000407844.1_5'UTR	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	959					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.C959*(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCTGGCCGTCGCACCCGGGGA	0.622																																						uc002qxe.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(2875-2877)TGC>TGA		myelin transcription factor 1-like							39.0	45.0	43.0					2																	1843124		2018	4145	6163	SO:0001587	stop_gained	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1843124G>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2877C>A	2.37:g.1843124G>T	ENSP00000382114:p.Cys959*					MYT1L_uc002qxd.2_Nonsense_Mutation_p.C957*|MYT1L_uc010ewk.2_5'UTR	p.C959*	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	21	3704	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	959			C2HC-type 5.		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Nonsense_Mutation	SNP	ENST00000399161.2	37	c.2877C>A		.	.	.	.	.	.	.	.	.	.	G	46	12.450151	0.99669	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000399157;ENST00000428368	.	.	.	5.76	0.228	0.15364	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9494	9.4989	0.39006	0.6864:0.0:0.3136:0.0	.	.	.	.	X	959;905;13;957	.	ENSP00000295067:C905X	C	-	3	2	MYT1L	1822131	1.000000	0.71417	0.987000	0.45799	0.198000	0.23893	2.098000	0.41757	-0.184000	0.10567	-0.253000	0.11424	TGC		PASS	0.622	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		57	51	57	51	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1893048	1893048	+	Silent	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:1893048G>T	ENST00000399161.2	-	16	3232	c.2485C>A	c.(2485-2487)Cgg>Agg	p.R829R	MYT1L_ENST00000428368.2_Silent_p.R827R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	829					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R829R(1)|p.R829W(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCTATCCTCCGGGGTTTCATT	0.532																																						uc002qxe.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|endometrium(1)	ovary(5)|central_nervous_system(1)	6						c.(2485-2487)CGG>AGG		myelin transcription factor 1-like							88.0	91.0	90.0					2																	1893048		1977	4134	6111	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1893048G>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2485C>A	2.37:g.1893048G>T						MYT1L_uc002qxd.2_Silent_p.R827R|MYT1L_uc010ewl.1_RNA	p.R829R	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	16	3312	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	829					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.2485C>A																																																																																					PASS	0.532	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		86	61	86	61	---	---	---	---
RNF144A	9781	broad.mit.edu	37	2	7154603	7154603	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:7154603G>A	ENST00000320892.6	+	4	596	c.154G>A	c.(154-156)Gag>Aag	p.E52K	RNF144A_ENST00000467276.1_Intron	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	52					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E52K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		ACAGTATGTTGAGCTCTTGAT	0.423																																						uc002qys.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(154-156)GAG>AAG		ring finger protein 144							135.0	140.0	139.0					2																	7154603		2203	4300	6503	SO:0001583	missense	9781					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	g.chr2:7154603G>A	D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"""RING-type (C3HC4) zinc fingers"""	20457	protein-coding gene	gene with protein product			"""ring finger protein 144"""	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.154G>A	2.37:g.7154603G>A	ENSP00000321330:p.Glu52Lys					RNF144A_uc002qyt.2_Intron	p.E52K	NM_014746	NP_055561	P50876	R144A_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.195)	4	596	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)	52			RING-type 1; atypical.		D6W4Y6|Q585H5	Missense_Mutation	SNP	ENST00000320892.6	37	c.154G>A	CCDS1657.1	.	.	.	.	.	.	.	.	.	.	G	35	5.533236	0.96460	.	.	ENSG00000151692	ENST00000320892;ENST00000427092;ENST00000416587;ENST00000433456	T;T;T	0.47869	1.92;0.83;0.83	5.51	5.51	0.81932	Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	T	0.60805	0.2297	L	0.45581	1.43	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.49082	-0.8976	10	0.16420	T	0.52	.	19.7837	0.96428	0.0:0.0:1.0:0.0	.	52	P50876	R144A_HUMAN	K	52	ENSP00000321330:E52K;ENSP00000414420:E52K;ENSP00000402645:E52K	ENSP00000321330:E52K	E	+	1	0	RNF144A	7072054	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.268000	0.95675	2.738000	0.93877	0.655000	0.94253	GAG		PASS	0.423	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746		15	171	15	171	---	---	---	---
KCNF1	3754	broad.mit.edu	37	2	11053771	11053771	+	Missense_Mutation	SNP	A	A	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:11053771A>T	ENST00000295082.1	+	1	1709	c.1219A>T	c.(1219-1221)Aac>Tac	p.N407Y		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	407					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.N407Y(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCCCATCATCAACAACTTTGT	0.612																																						uc002rax.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1219-1221)AAC>TAC		potassium voltage-gated channel, subfamily F,							139.0	108.0	118.0					2																	11053771		2203	4300	6503	SO:0001583	missense	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11053771A>T	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.1219A>T	2.37:g.11053771A>T	ENSP00000295082:p.Asn407Tyr						p.N407Y	NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	1709	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		407			Cytoplasmic (Potential).		O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	37	c.1219A>T	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.032065	0.75504	.	.	ENSG00000162975	ENST00000295082	D	0.97665	-4.48	5.51	5.51	0.81932	.	0.090203	0.85682	D	0.000000	D	0.94729	0.8299	N	0.24115	0.695	0.58432	D	0.999992	P	0.44090	0.826	P	0.45037	0.467	D	0.95651	0.8707	10	0.87932	D	0	.	15.924	0.79597	1.0:0.0:0.0:0.0	.	407	Q9H3M0	KCNF1_HUMAN	Y	407	ENSP00000295082:N407Y	ENSP00000295082:N407Y	N	+	1	0	KCNF1	10971222	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.229000	0.95273	2.217000	0.71921	0.533000	0.62120	AAC		PASS	0.612	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		26	60	26	60	---	---	---	---
PQLC3	130814	broad.mit.edu	37	2	11300791	11300791	+	Missense_Mutation	SNP	C	C	A	rs201449974		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:11300791C>A	ENST00000295083.3	+	3	442	c.267C>A	c.(265-267)aaC>aaA	p.N89K	PQLC3_ENST00000476787.1_3'UTR|PQLC3_ENST00000441908.2_Missense_Mutation_p.N89K|PQLC3_ENST00000402361.1_Missense_Mutation_p.N89K	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	89						integral component of membrane (GO:0016021)		p.N89K(1)		kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		TTAACGGGAACGTGAAGCAGG	0.512																																						uc002rbc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(265-267)AAC>AAA		PQ loop repeat containing 3 precursor							155.0	134.0	141.0					2																	11300791		2203	4300	6503	SO:0001583	missense	130814					integral to membrane		g.chr2:11300791C>A	BC027625	CCDS1679.1, CCDS62856.1, CCDS62857.1	2p25.1	2004-02-05	2005-07-19	2005-07-19	ENSG00000162976	ENSG00000162976			28503	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 22"""	C2orf22		12477932	Standard	NM_001282711		Approved	MGC33602	uc002rbc.3	Q8N755	OTTHUMG00000119055	ENST00000295083.3:c.267C>A	2.37:g.11300791C>A	ENSP00000295083:p.Asn89Lys					PQLC3_uc010yjk.1_Missense_Mutation_p.N89K	p.N89K	NM_152391	NP_689604	Q8N755	PQLC3_HUMAN		Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)	3	400	+	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)		89					B2R8K1|B4DWA4	Missense_Mutation	SNP	ENST00000295083.3	37	c.267C>A	CCDS1679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.011|0.011	-1.739010|-1.739010	0.00681|0.00681	.|.	.|.	ENSG00000162976|ENSG00000162976	ENST00000445402;ENST00000295083;ENST00000441908;ENST00000402361|ENST00000428481	D;T;D;D|.	0.85411|.	-1.98;-0.36;-1.96;-1.94|.	5.01|5.01	-0.0837|-0.0837	0.13693|0.13693	.|.	0.501803|.	0.22892|.	N|.	0.054363|.	T|T	0.25082|0.25082	0.0609|0.0609	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	0.999998|0.999998	B;B|.	0.13594|.	0.005;0.008|.	B;B|.	0.10450|.	0.001;0.005|.	T|T	0.26710|0.26710	-1.0095|-1.0095	10|5	0.02654|.	T|.	1|.	-27.9709|-27.9709	4.3998|4.3998	0.11381|0.11381	0.1529:0.3992:0.0:0.4479|0.1529:0.3992:0.0:0.4479	.|.	89;89|.	B4DWA4;Q8N755|.	.;PQLC3_HUMAN|.	K|S	112;89;89;89|69	ENSP00000410430:N112K;ENSP00000295083:N89K;ENSP00000406148:N89K;ENSP00000384129:N89K|.	ENSP00000295083:N89K|.	N|R	+|+	3|1	2|0	PQLC3|PQLC3	11218242|11218242	0.016000|0.016000	0.18221|0.18221	0.466000|0.466000	0.27168|0.27168	0.076000|0.076000	0.17211|0.17211	-0.381000|-0.381000	0.07417|0.07417	0.133000|0.133000	0.18654|0.18654	0.561000|0.561000	0.74099|0.74099	AAC|CGT		PASS	0.512	PQLC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239266.4	NM_152391		94	84	94	84	---	---	---	---
APOB	338	broad.mit.edu	37	2	21231921	21231921	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:21231921G>C	ENST00000233242.1	-	26	7946	c.7819C>G	c.(7819-7821)Ctt>Gtt	p.L2607V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2607					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.L2607V(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)					GCTTTCTGAAGAGCCTGAAGA	0.413																																						uc002red.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(7819-7821)CTT>GTT		apolipoprotein B precursor	Atorvastatin(DB01076)						86.0	84.0	85.0					2																	21231921		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231921G>C	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.7819C>G	2.37:g.21231921G>C	ENSP00000233242:p.Leu2607Val						p.L2607V	NM_000384	NP_000375	P04114	APOB_HUMAN			26	7947	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2607					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.7819C>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516278	0.44763	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01347	4.99	5.16	4.28	0.50868	.	0.000000	0.49305	D	0.000154	T	0.07188	0.0182	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.03483	-1.1032	10	0.87932	D	0	.	13.498	0.61436	0.0751:0.0:0.9249:0.0	.	2607	P04114	APOB_HUMAN	V	2607	ENSP00000233242:L2607V	ENSP00000233242:L2607V	L	-	1	0	APOB	21085426	1.000000	0.71417	0.617000	0.29091	0.868000	0.49771	6.313000	0.72844	1.173000	0.42796	0.561000	0.74099	CTT		PASS	0.413	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			63	135	63	135	---	---	---	---
APOB	338	broad.mit.edu	37	2	21239320	21239320	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:21239320C>T	ENST00000233242.1	-	21	3450	c.3323G>A	c.(3322-3324)gGc>gAc	p.G1108D		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1108					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.G1108D(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)					CCTTAGGTGGCCCATGAGGGC	0.478																																						uc002red.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(3322-3324)GGC>GAC		apolipoprotein B precursor	Atorvastatin(DB01076)						70.0	69.0	69.0					2																	21239320		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21239320C>T	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.3323G>A	2.37:g.21239320C>T	ENSP00000233242:p.Gly1108Asp						p.G1108D	NM_000384	NP_000375	P04114	APOB_HUMAN			21	3451	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1108					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.3323G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968854	0.74131	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01335	5.0	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000012	T	0.08313	0.0207	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	T	0.02109	-1.1212	10	0.87932	D	0	.	18.4139	0.90562	0.0:1.0:0.0:0.0	.	1108	P04114	APOB_HUMAN	D	1108	ENSP00000233242:G1108D	ENSP00000233242:G1108D	G	-	2	0	APOB	21092825	1.000000	0.71417	0.567000	0.28434	0.047000	0.14425	4.327000	0.59247	2.445000	0.82738	0.561000	0.74099	GGC		PASS	0.478	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			72	36	72	36	---	---	---	---
SLC4A1AP	22950	broad.mit.edu	37	2	27900642	27900642	+	Silent	SNP	G	G	A	rs116617546		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:27900642G>A	ENST00000326019.6	+	8	1896	c.1614G>A	c.(1612-1614)gcG>gcA	p.A538A		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	538						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A538A(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					CTTTAGATGCGTTCATGTCAG	0.373																																						uc002rlk.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1612-1614)GCG>GCA		solute carrier family 4 (anion exchanger),							106.0	102.0	103.0					2																	27900642		2203	4300	6503	SO:0001819	synonymous_variant	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27900642G>A		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.1614G>A	2.37:g.27900642G>A							p.A538A	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN			8	1896	+	Acute lymphoblastic leukemia(172;0.155)		538					A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Silent	SNP	ENST00000326019.6	37	c.1614G>A	CCDS33166.1																																																																																				PASS	0.373	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		58	138	58	138	---	---	---	---
GTF2A1L	11036	broad.mit.edu	37	2	48848036	48848036	+	Missense_Mutation	SNP	G	G	A	rs201294989	byFrequency	TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:48848036G>A	ENST00000403751.3	+	2	105	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.R727Q|GTF2A1L_ENST00000468326.1_3'UTR|GTF2A1L_ENST00000430487.2_Intron|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.R727Q|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.R727Q|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.R727Q|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.R727Q	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	23					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.R727Q(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAAGGAGTTCGGAATCTATTT	0.289													G|||	2	0.000399361	0.0008	0.0	5008	,	,		11861	0.0		0.001	False		,,,				2504	0.0					uc010yol.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(2179-2181)CGG>CAG		stonin 1							58.0	59.0	59.0					2																	48848036		2203	4298	6501	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48848036G>A	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.68G>A	2.37:g.48848036G>A	ENSP00000384597:p.Arg23Gln					STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.R727Q|GTF2A1L_uc002rws.1_Missense_Mutation_p.R23Q|GTF2A1L_uc010yom.1_Intron|GTF2A1L_uc002rwt.2_Missense_Mutation_p.R23Q	p.R727Q	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		3	2227	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	727					B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	c.2180G>A	CCDS46281.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.61	3.171869	0.57584	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000437125;ENST00000403751	T;T;T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0;0.0;0.0	4.7	3.82	0.43975	Transcription factor IIA, alpha subunit, N-terminal (1);Transcription factor IIA, helical (1);	0.144326	0.45126	D	0.000384	T	0.75708	0.3886	M	0.76328	2.33	0.80722	D	1	P;B;D;B	0.89917	0.669;0.195;1.0;0.12	B;B;D;B	0.87578	0.046;0.057;0.998;0.057	T	0.75602	-0.3261	10	0.42905	T	0.14	.	10.7385	0.46139	0.1624:0.0:0.8376:0.0	.	727;727;23;727	A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;TF2AY_HUMAN;.	Q	727;727;727;727;727;22;23;23	ENSP00000385499:R727Q;ENSP00000385701:R727Q;ENSP00000378236:R727Q;ENSP00000311493:R727Q;ENSP00000378234:R727Q;ENSP00000396702:R23Q;ENSP00000384597:R23Q	ENSP00000384597:R23Q	R	+	2	0	STON1-GTF2A1L;GTF2A1L	48701540	0.995000	0.38212	0.958000	0.39756	0.457000	0.32468	2.188000	0.42612	1.342000	0.45619	0.561000	0.74099	CGG		PASS	0.289	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		59	52	59	52	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61622326	61622326	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:61622326C>T	ENST00000398571.2	-	4	671	c.595G>A	c.(595-597)Gat>Aat	p.D199N		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	199					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D199N(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACATTCATATCACAGAATGCC	0.229																																						uc002sbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(595-597)GAT>AAT		ubiquitin specific protease 34							35.0	33.0	34.0					2																	61622326		1765	4009	5774	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61622326C>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.595G>A	2.37:g.61622326C>T	ENSP00000381577:p.Asp199Asn						p.D199N	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		4	617	-			199					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.595G>A	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	34	5.307072	0.95629	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.15017	2.46	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.25232	0.0613	M	0.68317	2.08	0.58432	D	0.999999	P	0.37781	0.608	B	0.37047	0.24	T	0.01743	-1.1283	10	0.48119	T	0.1	.	19.7723	0.96370	0.0:1.0:0.0:0.0	.	199	Q70CQ2	UBP34_HUMAN	N	47;47;199	ENSP00000381577:D199N	ENSP00000263989:D47N	D	-	1	0	USP34	61475830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.604000	0.67626	2.674000	0.91012	0.579000	0.79373	GAT		PASS	0.229	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			13	72	13	72	---	---	---	---
FAM161A	84140	broad.mit.edu	37	2	62081029	62081029	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:62081029C>G	ENST00000405894.3	-	1	249	c.148G>C	c.(148-150)Gag>Cag	p.E50Q	FAM161A_ENST00000404929.1_Missense_Mutation_p.E50Q	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	50	Poly-Glu.				cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)		p.E50Q(2)		breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCTCCTCCTCTTCGTCCTCC	0.657																																						uc010ypo.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(1)	3						c.(148-150)GAG>CAG		hypothetical protein LOC84140							48.0	48.0	48.0					2																	62081029		1568	3582	5150	SO:0001583	missense	84140				response to stimulus|visual perception	centrosome		g.chr2:62081029C>G		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.148G>C	2.37:g.62081029C>G	ENSP00000385893:p.Glu50Gln					FAM161A_uc002sbm.3_Missense_Mutation_p.E50Q|FAM161A_uc002sbn.3_5'UTR|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_5'UTR	p.E50Q	NM_032180	NP_115556	Q3B820	F161A_HUMAN			1	250	-			50			Poly-Glu.		B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	c.148G>C	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431197	0.43122	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.66099	-0.19;-0.19	4.36	1.57	0.23409	.	.	.	.	.	T	0.37865	0.1019	N	0.08118	0	0.09310	N	1	B;B	0.27932	0.123;0.194	B;B	0.27715	0.037;0.082	T	0.30995	-0.9959	9	0.87932	D	0	.	4.6478	0.12580	0.0:0.6261:0.181:0.1929	.	50;50	Q3B820;Q3B820-3	F161A_HUMAN;.	Q	50	ENSP00000385158:E50Q;ENSP00000385893:E50Q	ENSP00000303170:E50Q	E	-	1	0	FAM161A	61934533	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.441000	0.06879	0.352000	0.24053	0.655000	0.94253	GAG		PASS	0.657	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		3	47	3	47	---	---	---	---
EHBP1	23301	broad.mit.edu	37	2	63101542	63101542	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:63101542C>T	ENST00000263991.5	+	11	1647	c.1165C>T	c.(1165-1167)Caa>Taa	p.Q389*	EHBP1_ENST00000354487.3_Nonsense_Mutation_p.Q354*|EHBP1_ENST00000405289.1_Nonsense_Mutation_p.Q354*|EHBP1_ENST00000431489.1_Nonsense_Mutation_p.Q354*|EHBP1_ENST00000405015.3_Nonsense_Mutation_p.Q354*	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	389						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.Q389*(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AAATCCTGTTCAAGAACTAGA	0.378																																						uc002sby.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1165-1167)CAA>TAA		EH domain binding protein 1 isoform 1							94.0	103.0	100.0					2																	63101542		2203	4300	6503	SO:0001587	stop_gained	23301	Hereditary_Prostate_Cancer				cytoplasm|membrane		g.chr2:63101542C>T	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.1165C>T	2.37:g.63101542C>T	ENSP00000263991:p.Gln389*					EHBP1_uc010fcp.2_Nonsense_Mutation_p.Q354*|EHBP1_uc002sbz.2_Nonsense_Mutation_p.Q354*|EHBP1_uc002scb.2_Nonsense_Mutation_p.Q354*	p.Q389*	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		11	1647	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		389					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Nonsense_Mutation	SNP	ENST00000263991.5	37	c.1165C>T	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	C	41	9.096408	0.99064	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	.	.	.	5.13	5.13	0.70059	.	0.210154	0.42548	D	0.000698	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	13.8564	0.63529	0.1528:0.8472:0.0:0.0	.	.	.	.	X	354;354;389;354;354	.	ENSP00000263991:Q389X	Q	+	1	0	EHBP1	62955046	1.000000	0.71417	0.997000	0.53966	0.925000	0.55904	3.280000	0.51677	2.558000	0.86282	0.650000	0.86243	CAA		PASS	0.378	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		21	177	21	177	---	---	---	---
EHBP1	23301	broad.mit.edu	37	2	63101595	63101595	+	Silent	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:63101595C>T	ENST00000263991.5	+	11	1700	c.1218C>T	c.(1216-1218)gtC>gtT	p.V406V	EHBP1_ENST00000354487.3_Silent_p.V371V|EHBP1_ENST00000405289.1_Silent_p.V371V|EHBP1_ENST00000431489.1_Silent_p.V371V|EHBP1_ENST00000405015.3_Silent_p.V371V	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	406						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.V406V(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			CTCCACCAGTCCTCTCACCAA	0.388																																						uc002sby.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1216-1218)GTC>GTT		EH domain binding protein 1 isoform 1							98.0	111.0	107.0					2																	63101595		2203	4300	6503	SO:0001819	synonymous_variant	23301	Hereditary_Prostate_Cancer				cytoplasm|membrane		g.chr2:63101595C>T	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.1218C>T	2.37:g.63101595C>T						EHBP1_uc010fcp.2_Silent_p.V371V|EHBP1_uc002sbz.2_Silent_p.V371V|EHBP1_uc002scb.2_Silent_p.V371V	p.V406V	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		11	1700	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		406					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Silent	SNP	ENST00000263991.5	37	c.1218C>T	CCDS1872.1																																																																																				PASS	0.388	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		25	239	25	239	---	---	---	---
VPS54	51542	broad.mit.edu	37	2	64148355	64148355	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:64148355G>A	ENST00000272322.4	-	13	2008	c.1854C>T	c.(1852-1854)ctC>ctT	p.L618L	VPS54_ENST00000409558.4_Silent_p.L606L|VPS54_ENST00000354504.3_Silent_p.L465L			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	618					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)		p.L618L(1)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						CTCTTGACATGAGAAATTTGA	0.338																																						uc002scq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1852-1854)CTC>CTT		vacuolar protein sorting 54 isoform 1							58.0	61.0	60.0					2																	64148355		2202	4299	6501	SO:0001819	synonymous_variant	51542				protein transport|retrograde transport, endosome to Golgi			g.chr2:64148355G>A	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.1854C>T	2.37:g.64148355G>A						VPS54_uc002scp.2_Silent_p.L606L|VPS54_uc002scn.2_5'Flank|VPS54_uc002sco.2_Silent_p.L103L|VPS54_uc010fct.2_Silent_p.L465L	p.L618L	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN			13	2017	-			618					Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Silent	SNP	ENST00000272322.4	37	c.1854C>T	CCDS33208.1																																																																																				PASS	0.338	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		5	148	5	148	---	---	---	---
FBXO41	150726	broad.mit.edu	37	2	73491644	73491644	+	Missense_Mutation	SNP	C	C	A	rs61733550	byFrequency	TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:73491644C>A	ENST00000521871.1	-	6	1983	c.1568G>T	c.(1567-1569)cGc>cTc	p.R523L	FBXO41_ENST00000295133.5_Missense_Mutation_p.R584L|FBXO41_ENST00000520530.2_Missense_Mutation_p.R523L			Q8TF61	FBX41_HUMAN	F-box protein 41	523	F-box.							p.R147L(1)|p.R523L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						TCCCTCGGGGCGGGCTGCAGA	0.637																																						uc002sjb.1																			2	Substitution - Missense(2)		lung(2)	breast(2)|pancreas(1)	3						c.(1750-1752)CGC>CTC		F-box protein 41							30.0	32.0	32.0					2																	73491644		1954	4144	6098	SO:0001583	missense	150726					intracellular	protein binding|zinc ion binding	g.chr2:73491644C>A	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.1568G>T	2.37:g.73491644C>A	ENSP00000428646:p.Arg523Leu						p.R584L	NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN			6	1751	-			523			F-box.		G3V0Z7|Q2M1V8	Missense_Mutation	SNP	ENST00000521871.1	37	c.1751G>T	CCDS46337.2	.	.	.	.	.	.	.	.	.	.	C	14.79	2.642062	0.47153	.	.	ENSG00000163013	ENST00000295133;ENST00000521871	.	.	.	5.26	3.41	0.39046	.	0.121505	0.51477	D	0.000084	T	0.40196	0.1107	L	0.50333	1.59	0.58432	D	0.999998	P	0.36282	0.546	B	0.32583	0.148	T	0.13045	-1.0524	9	0.24483	T	0.36	.	7.918	0.29829	0.0:0.8041:0.0:0.1959	.	523	Q8TF61	FBX41_HUMAN	L	584;523	.	ENSP00000295133:R584L	R	-	2	0	FBXO41	73345152	1.000000	0.71417	0.672000	0.29872	0.217000	0.24651	3.783000	0.55409	0.735000	0.32537	0.643000	0.83706	CGC		PASS	0.637	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1			15	47	15	47	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73827841	73827841	+	Missense_Mutation	SNP	C	C	T	rs369008610		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:73827841C>T	ENST00000264448.6	+	18	11813	c.11702C>T	c.(11701-11703)aCt>aTt	p.T3901I	ALMS1_ENST00000409009.1_Missense_Mutation_p.T3859I	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3901					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.T3901I(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAAAAACACACTCGAGATGTT	0.448																																						uc002sje.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(11707-11709)ACT>ATT		Alstrom syndrome 1							63.0	65.0	65.0					2																	73827841		2120	4255	6375	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73827841C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.11702C>T	2.37:g.73827841C>T	ENSP00000264448:p.Thr3901Ile					ALMS1_uc002sjf.1_Missense_Mutation_p.T3859I|ALMS1_uc002sjh.1_Missense_Mutation_p.T3289I	p.T3903I	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			20	11819	+			3901					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.11708C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392569	0.83011	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.17054	2.3;2.3	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000014	T	0.36524	0.0970	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.971;0.998	T	0.02901	-1.1096	10	0.87932	D	0	.	16.4974	0.84249	0.0:1.0:0.0:0.0	.	3859;3901	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	I	3859;3901	ENSP00000386627:T3859I;ENSP00000264448:T3901I	ENSP00000264448:T3901I	T	+	2	0	ALMS1	73681349	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.408000	0.66368	2.765000	0.95021	0.650000	0.86243	ACT		PASS	0.448	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		27	81	27	81	---	---	---	---
C2orf78	388960	broad.mit.edu	37	2	74042728	74042728	+	Missense_Mutation	SNP	T	T	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:74042728T>G	ENST00000409561.1	+	3	1499	c.1378T>G	c.(1378-1380)Tta>Gta	p.L460V		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	460								p.L460V(1)|p.L450V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CTTCAGTTCCTTACAAGATCT	0.448																																						uc002sjr.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1378-1380)TTA>GTA		hypothetical protein LOC388960							67.0	66.0	66.0					2																	74042728		1931	4117	6048	SO:0001583	missense	388960							g.chr2:74042728T>G	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1378T>G	2.37:g.74042728T>G	ENSP00000387124:p.Leu460Val						p.L460V	NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN			3	1499	+			460						Missense_Mutation	SNP	ENST00000409561.1	37	c.1378T>G	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.968355	0.53614	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	.	.	.	5.24	4.08	0.47627	.	0.184997	0.24339	N	0.039396	T	0.55065	0.1897	M	0.79926	2.475	0.09310	N	0.999998	D	0.61697	0.99	P	0.54100	0.742	T	0.52859	-0.8519	9	0.72032	D	0.01	-0.1082	8.7232	0.34454	0.1688:0.0:0.0:0.8312	.	460	A6NCI8	CB078_HUMAN	V	460;450	.	ENSP00000340692:L450V	L	+	1	2	C2orf78	73896236	0.193000	0.23313	0.046000	0.18839	0.022000	0.10575	1.881000	0.39638	0.936000	0.37367	-0.301000	0.09380	TTA		PASS	0.448	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		62	36	62	36	---	---	---	---
ACTG2	72	broad.mit.edu	37	2	74141894	74141894	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:74141894C>A	ENST00000409624.1	+	8	1344	c.701C>A	c.(700-702)tCt>tAt	p.S234Y	ACTG2_ENST00000409731.3_Missense_Mutation_p.S191Y|ACTG2_ENST00000345517.3_Missense_Mutation_p.S234Y			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	234					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.S234Y(1)		large_intestine(3)|lung(14)|skin(1)	18						GCAGCTTCCTCTTCCTCCCTG	0.537																																						uc002sjw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(700-702)TCT>TAT		actin, gamma 2 propeptide							79.0	75.0	76.0					2																	74141894		2203	4300	6503	SO:0001583	missense	72				muscle contraction	cytoskeleton|cytosol	ATP binding	g.chr2:74141894C>A		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.701C>A	2.37:g.74141894C>A	ENSP00000386857:p.Ser234Tyr					ACTG2_uc010fey.2_Missense_Mutation_p.S234Y|ACTG2_uc010yrn.1_Missense_Mutation_p.S191Y	p.S234Y	NM_001615	NP_001606	P63267	ACTH_HUMAN			7	823	+			234					B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	ENST00000409624.1	37	c.701C>A	CCDS1930.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.574913	0.65878	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409624	D;D;D	0.94897	-3.55;-3.55;-3.55	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	D	0.98009	0.9344	H	0.94620	3.56	0.53005	D	0.999962	P;P	0.46859	0.793;0.885	P;D	0.68765	0.873;0.96	D	0.99026	1.0819	10	0.87932	D	0	.	16.6898	0.85318	0.0:1.0:0.0:0.0	.	191;234	E9PG30;P63267	.;ACTH_HUMAN	Y	191;234;234	ENSP00000386929:S191Y;ENSP00000295137:S234Y;ENSP00000386857:S234Y	ENSP00000295137:S234Y	S	+	2	0	ACTG2	73995402	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.764000	0.62264	2.538000	0.85594	0.462000	0.41574	TCT		PASS	0.537	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615		29	104	29	104	---	---	---	---
REG1B	5968	broad.mit.edu	37	2	79313940	79313940	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:79313940C>G	ENST00000305089.3	-	3	261	c.181G>C	c.(181-183)Gat>Cat	p.D61H		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	61	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)	p.D61Y(2)|p.D61H(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TCACTCACATCTGCATCAACC	0.507																																						uc002sny.2																			3	Substitution - Missense(3)		lung(2)|large_intestine(1)	central_nervous_system(1)|skin(1)	2						c.(181-183)GAT>CAT		regenerating islet-derived 1 beta precursor							140.0	134.0	136.0					2																	79313940		2203	4300	6503	SO:0001583	missense	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79313940C>G		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.181G>C	2.37:g.79313940C>G	ENSP00000303206:p.Asp61His					REG1B_uc010ffv.1_Missense_Mutation_p.D61H|REG1B_uc010ffw.2_Missense_Mutation_p.D61H	p.D61H	NM_006507	NP_006498	P48304	REG1B_HUMAN			3	293	-			61			C-type lectin.			Missense_Mutation	SNP	ENST00000305089.3	37	c.181G>C	CCDS1963.1	.	.	.	.	.	.	.	.	.	.	c	21.0	4.077115	0.76415	.	.	ENSG00000172023	ENST00000454188;ENST00000305089	T;T	0.07908	3.15;3.15	3.74	3.74	0.42951	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.369581	0.19616	N	0.110007	T	0.20861	0.0502	L	0.52573	1.65	0.32594	N	0.526745	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.965	T	0.07009	-1.0795	10	0.87932	D	0	.	11.2197	0.48846	0.0:1.0:0.0:0.0	.	61;61	Q6ICS1;P48304	.;REG1B_HUMAN	H	12;61	ENSP00000387410:D12H;ENSP00000303206:D61H	ENSP00000303206:D61H	D	-	1	0	REG1B	79167448	0.003000	0.15002	0.933000	0.37362	0.677000	0.39632	0.215000	0.17562	2.087000	0.62958	0.561000	0.74099	GAT		PASS	0.507	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		8	261	8	261	---	---	---	---
POLR1A	25885	broad.mit.edu	37	2	86267661	86267661	+	Silent	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:86267661C>G	ENST00000263857.6	-	25	3972	c.3594G>C	c.(3592-3594)ctG>ctC	p.L1198L	POLR1A_ENST00000409681.1_Silent_p.L1198L			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1198					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.L1198L(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GCTGCCACTTCAGCTGCAGCA	0.647																																						uc002sqs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(3592-3594)CTG>CTC		DNA-directed RNA polymerase I A							33.0	39.0	38.0					2																	86267661		1948	4139	6087	SO:0001819	synonymous_variant	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86267661C>G	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.3594G>C	2.37:g.86267661C>G						POLR1A_uc010ytb.1_Silent_p.L564L|POLR1A_uc002sqt.1_Silent_p.L221L	p.L1198L	NM_015425	NP_056240	O95602	RPA1_HUMAN			25	3973	-			1198					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	c.3594G>C	CCDS42706.1																																																																																				PASS	0.647	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		4	64	4	64	---	---	---	---
IGKV1-5	28299	broad.mit.edu	37	2	89247051	89247051	+	RNA	SNP	C	C	G	rs182340840		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:89247051C>G	ENST00000496168.1	-	0	299							P01602	KV110_HUMAN	immunoglobulin kappa variable 1-5						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GATGGTGACTCTGTCTCCTAC	0.483																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.		C		0,3886		0,0,1943	123.0	117.0	119.0			-4.5	0.0	2		119	3,8277		0,3,4137	no	intergenic				0,3,6080	GG,GC,CC		0.0362,0.0,0.0247			89247051	3,12163	1943	4140	6083			0							g.chr2:89247051C>G	Z00001		2p11.2	2012-02-08			ENSG00000243466	ENSG00000243466		"""Immunoglobulins / IGK locus"""	5741	other	immunoglobulin gene							Standard	NG_000834		Approved			P01602	OTTHUMG00000151560		2.37:g.89247051C>G						uc002stl.2_Intron								101		-									RNA	SNP	ENST00000496168.1	37	c.8008G>C																																																																																					PASS	0.483	IGKV1-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323135.1	NG_000834		70	189	70	189	---	---	---	---
IGKV3D-20	28874	broad.mit.edu	37	2	90077815	90077815	+	RNA	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:90077815C>A	ENST00000390270.2	+	0	136									immunoglobulin kappa variable 3D-20																		TCCTGCTACTCTGGCTCCCAG	0.512																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							88.0	95.0	93.0					2																	90077815		1815	4063	5878			0							g.chr2:90077815C>A	X12687		2p11.2	2012-02-08			ENSG00000211625	ENSG00000211625		"""Immunoglobulins / IGK locus"""	5825	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151615		2.37:g.90077815C>A														13		+									RNA	SNP	ENST00000390270.2	37	c.1392C>A																																																																																					PASS	0.512	IGKV3D-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323287.1	NG_000833		58	145	58	145	---	---	---	---
ZAP70	7535	broad.mit.edu	37	2	98341707	98341707	+	Silent	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:98341707C>A	ENST00000264972.5	+	4	770	c.555C>A	c.(553-555)ggC>ggA	p.G185G	ZAP70_ENST00000442208.1_Silent_p.G59G|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	185	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.G185G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AGACCGACGGCAAGTTCCTGT	0.642																																						uc002syd.1																			1	Substitution - coding silent(1)		lung(1)	lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(553-555)GGC>GGA		zeta-chain associated protein kinase 70kDa							42.0	41.0	42.0					2																	98341707		2203	4300	6503	SO:0001819	synonymous_variant	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98341707C>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.555C>A	2.37:g.98341707C>A						ZAP70_uc010yvf.1_Silent_p.G185G|ZAP70_uc002sye.1_Silent_p.G75G	p.G185G	NM_001079	NP_001070	P43403	ZAP70_HUMAN			4	762	+			185			SH2 2.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	ENST00000264972.5	37	c.555C>A	CCDS33254.1																																																																																				PASS	0.642	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			31	41	31	41	---	---	---	---
ZAP70	7535	broad.mit.edu	37	2	98351769	98351769	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:98351769C>A	ENST00000264972.5	+	10	1354	c.1139C>A	c.(1138-1140)aCg>aAg	p.T380K	ZAP70_ENST00000451498.2_Missense_Mutation_p.T73K|ZAP70_ENST00000442208.1_Missense_Mutation_p.T254K|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	380	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.T380K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AAGGCAGACACGGAAGAGATG	0.662																																						uc002syd.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(1138-1140)ACG>AAG		zeta-chain associated protein kinase 70kDa							147.0	117.0	128.0					2																	98351769		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98351769C>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1139C>A	2.37:g.98351769C>A	ENSP00000264972:p.Thr380Lys					ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.T270K|ZAP70_uc002syf.1_Missense_Mutation_p.T73K	p.T380K	NM_001079	NP_001070	P43403	ZAP70_HUMAN			10	1346	+			380			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1139C>A	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	C	0.045	-1.270291	0.01421	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	D;D;D	0.81659	-1.52;-1.52;-1.52	5.65	4.5	0.54988	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.243755	0.28453	N	0.015284	T	0.49847	0.1581	N	0.02379	-0.575	0.27215	N	0.959809	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45542	-0.9254	10	0.02654	T	1	.	6.1083	0.20086	0.742:0.1743:0.0837:0.0	.	254;380	P43403-3;P43403	.;ZAP70_HUMAN	K	380;254;73	ENSP00000264972:T380K;ENSP00000411141:T254K;ENSP00000400475:T73K	ENSP00000264972:T380K	T	+	2	0	ZAP70	97718201	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	3.234000	0.51320	1.095000	0.41419	-0.281000	0.10026	ACG		PASS	0.662	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			63	167	63	167	---	---	---	---
MRPL30	51263	broad.mit.edu	37	2	99811647	99811647	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:99811647G>C	ENST00000338148.3	+	5	546	c.348G>C	c.(346-348)ttG>ttC	p.L116F	MRPL30_ENST00000410042.1_Missense_Mutation_p.L116F|C2orf15_ENST00000512183.2_Missense_Mutation_p.L116F|MRPL30_ENST00000465432.1_3'UTR	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	116						mitochondrion (GO:0005739)|ribosome (GO:0005840)		p.L116F(1)		breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						TTAAGCATTTGATAAGGTTTG	0.318																																						uc002szu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(346-348)TTG>TTC		RecName: Full=39S ribosomal protein L30, mitochondrial;          Short=L30mt; AltName: Full=MRP-L30; AltName: Full=MRP-L28; Flags: Precursor;							175.0	168.0	171.0					2																	99811647		2203	4300	6503	SO:0001583	missense	51263				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr2:99811647G>C	AB051342	CCDS2041.1	2q11.2	2012-09-13			ENSG00000185414	ENSG00000185414		"""Mitochondrial ribosomal proteins / large subunits"""	14036	protein-coding gene	gene with protein product		611838					Standard	NM_145212		Approved	MRP-L28, RPML28	uc002szv.3	Q8TCC3	OTTHUMG00000130642	ENST00000338148.3:c.348G>C	2.37:g.99811647G>C	ENSP00000338057:p.Leu116Phe					MRPL30_uc002szl.1_RNA|MRPL30_uc002szr.2_Missense_Mutation_p.L116F|MRPL30_uc002szt.1_RNA|MRPL30_uc002szv.2_Missense_Mutation_p.L116F	p.L116F	NM_145213	NP_660214	Q8TCC3	RM30_HUMAN			5	510	+			116					A6NIC6|D3DVI0|D3DVI3|Q0D2Q7|Q6ZTP4|Q96Q69|Q9P0N0	Missense_Mutation	SNP	ENST00000338148.3	37	c.348G>C	CCDS2041.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319468	0.60524	.	.	ENSG00000241962;ENSG00000241962;ENSG00000185414;ENSG00000185414;ENSG00000185414	ENST00000512183;ENST00000308644;ENST00000410042;ENST00000338148;ENST00000409841	T;T;T	0.71934	-0.61;-0.61;-0.61	4.43	3.55	0.40652	Ribosomal protein L30, ferredoxin-like fold domain (3);	0.000000	0.64402	D	0.000001	D	0.86389	0.5921	M	0.93507	3.425	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88391	0.3008	10	0.87932	D	0	-12.0408	10.7342	0.46115	0.0931:0.0:0.9069:0.0	.	116;116	Q8TCC3;Q8TCC3-3	RM30_HUMAN;.	F	116;129;116;116;116	ENSP00000420959:L116F;ENSP00000338057:L116F;ENSP00000386752:L116F	ENSP00000312464:L129F	L	+	3	2	C2orf15;MRPL30	99178079	0.886000	0.30341	1.000000	0.80357	0.938000	0.57974	-0.149000	0.10204	1.231000	0.43661	-0.122000	0.15005	TTG		PASS	0.318	MRPL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253130.2			15	181	15	181	---	---	---	---
LYG2	254773	broad.mit.edu	37	2	99863224	99863224	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:99863224G>A	ENST00000409238.1	-	2	123	c.103C>T	c.(103-105)Ctg>Ttg	p.L35L	LYG2_ENST00000423800.1_Silent_p.L35L|LYG2_ENST00000409679.1_Silent_p.L35L|LYG2_ENST00000333017.2_Silent_p.L35L			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	35					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.L35L(1)		large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						CCGTGGTACAGGCGTGGATGT	0.517																																						uc002szw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(103-105)CTG>TTG		lysozyme G-like 2 precursor							189.0	156.0	167.0					2																	99863224		2203	4300	6503	SO:0001819	synonymous_variant	254773				cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	g.chr2:99863224G>A	AF323919	CCDS2042.1	2q11.2	2008-02-05			ENSG00000185674	ENSG00000185674			29615	protein-coding gene	gene with protein product						8889548, 12574869	Standard	NM_175735		Approved	LYGH	uc002szw.1	Q86SG7	OTTHUMG00000130643	ENST00000409238.1:c.103C>T	2.37:g.99863224G>A						MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_Silent_p.L35L|LYG2_uc002szx.1_Silent_p.L35L	p.L35L	NM_175735	NP_783862	Q86SG7	LYG2_HUMAN			3	216	-			35					Q496G2|Q53RW0	Silent	SNP	ENST00000409238.1	37	c.103C>T	CCDS2042.1																																																																																				PASS	0.517	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330307.1	NM_175735		112	86	112	86	---	---	---	---
SULT1C3	442038	broad.mit.edu	37	2	108881303	108881303	+	Missense_Mutation	SNP	A	A	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:108881303A>C	ENST00000329106.2	+	6	644	c.644A>C	c.(643-645)aAg>aCg	p.K215T		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	215					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)	p.K215T(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						GAAATTGAGAAGATACTGAAG	0.403																																						uc010ywo.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(643-645)AAG>ACG		sulfotransferase family, cytosolic, 1C, member							75.0	72.0	73.0					2																	108881303		2203	4300	6503	SO:0001583	missense	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108881303A>C	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.644A>C	2.37:g.108881303A>C	ENSP00000333310:p.Lys215Thr						p.K215T	NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN			6	644	+			215			PAPS.		Q6IMI5	Missense_Mutation	SNP	ENST00000329106.2	37	c.644A>C	CCDS33267.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.758579	0.69763	.	.	ENSG00000196228	ENST00000329106	T	0.02280	4.36	4.9	4.9	0.64082	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000010	T	0.14098	0.0341	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00269	-1.1861	10	0.87932	D	0	.	13.8396	0.63430	1.0:0.0:0.0:0.0	.	215	Q6IMI6	ST1C3_HUMAN	T	215	ENSP00000333310:K215T	ENSP00000333310:K215T	K	+	2	0	SULT1C3	108247735	1.000000	0.71417	0.961000	0.40146	0.969000	0.65631	4.391000	0.59652	2.048000	0.60808	0.533000	0.62120	AAG		PASS	0.403	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		64	43	64	43	---	---	---	---
DPP10	57628	broad.mit.edu	37	2	116594282	116594282	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:116594282G>A	ENST00000410059.1	+	24	2622	c.2142G>A	c.(2140-2142)ttG>ttA	p.L714L	DPP10_ENST00000310323.8_Silent_p.L707L|DPP10_ENST00000393147.2_Silent_p.L718L|DPP10_ENST00000409163.1_Silent_p.L664L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	714						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.L714L(1)|p.L707L(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTCATGGCTTGAAAGAAGAAA	0.318																																						uc002tla.1																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(2140-2142)TTG>TTA		dipeptidyl peptidase 10 isoform long							82.0	99.0	93.0					2																	116594282		2203	4300	6503	SO:0001819	synonymous_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116594282G>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.2142G>A	2.37:g.116594282G>A						DPP10_uc002tlb.1_Silent_p.L664L|DPP10_uc002tlc.1_Silent_p.L710L|DPP10_uc002tle.2_Silent_p.L718L|DPP10_uc002tlf.1_Silent_p.L707L	p.L714L	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			24	2599	+			714			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	c.2142G>A	CCDS46400.1																																																																																				PASS	0.318	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		25	186	25	186	---	---	---	---
MYO7B	4648	broad.mit.edu	37	2	128394204	128394204	+	Splice_Site	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:128394204G>A	ENST00000409816.2	+	44	6161		c.e44+1		LIMS2_ENST00000494613.1_5'Flank|MYO7B_ENST00000409090.1_Splice_Site|MYO7B_ENST00000389524.4_Splice_Site|MYO7B_ENST00000428314.1_Splice_Site			Q6PIF6	MYO7B_HUMAN	myosin VIIB							extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.?(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAAGACCAAGGTAGCTGCTGG	0.642																																						uc002top.2																			2	Unknown(2)		lung(2)	ovary(1)|pancreas(1)	2						c.e45+1		myosin VIIB							51.0	54.0	53.0					2																	128394204		2095	4202	6297	SO:0001630	splice_region_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128394204G>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.6129+1G>A	2.37:g.128394204G>A						MYO7B_uc002tos.1_Splice_Site_p.K153_splice|MYO7B_uc002tot.2_Splice_Site_p.K153_splice	p.K2043_splice	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	45	6182	+	Colorectal(110;0.1)							Q14786|Q8TEE1	Splice_Site	SNP	ENST00000409816.2	37	c.6129_splice	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731087	0.89390	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816;ENST00000409090	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9053	0.92458	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO7B	128110674	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.333000	0.96459	2.544000	0.85801	0.591000	0.81541	.		PASS	0.642	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001	Intron	7	15	7	15	---	---	---	---
LIMS2	55679	broad.mit.edu	37	2	128398512	128398512	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:128398512C>A	ENST00000355119.4	-	7	877	c.712G>T	c.(712-714)Gag>Tag	p.E238*	LIMS2_ENST00000494613.1_5'Flank|LIMS2_ENST00000410011.1_Nonsense_Mutation_p.E233*|LIMS2_ENST00000409254.1_Nonsense_Mutation_p.E86*|LIMS2_ENST00000409286.1_Nonsense_Mutation_p.E86*|LIMS2_ENST00000409754.1_Nonsense_Mutation_p.E86*|LIMS2_ENST00000324938.5_Nonsense_Mutation_p.E262*|LIMS2_ENST00000545738.2_Nonsense_Mutation_p.E260*|LIMS2_ENST00000409808.2_Nonsense_Mutation_p.E233*|LIMS2_ENST00000410038.1_Nonsense_Mutation_p.E86*|LIMS2_ENST00000409455.1_Nonsense_Mutation_p.E233*	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	238	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.E262*(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CCCTTCTTCTCATAGTGCCGG	0.622																																						uc002tpa.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(712-714)GAG>TAG		LIM and senescent cell antigen-like domains 2							111.0	101.0	105.0					2																	128398512		2203	4300	6503	SO:0001587	stop_gained	55679				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	g.chr2:128398512C>A	AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.712G>T	2.37:g.128398512C>A	ENSP00000347240:p.Glu238*					LIMS2_uc002tou.2_Nonsense_Mutation_p.E46*|LIMS2_uc002tov.2_Nonsense_Mutation_p.E86*|LIMS2_uc002tow.2_Nonsense_Mutation_p.E86*|LIMS2_uc002tox.2_Nonsense_Mutation_p.E262*|LIMS2_uc010fmb.2_Nonsense_Mutation_p.E148*|LIMS2_uc002toy.2_Nonsense_Mutation_p.E233*|LIMS2_uc010yzm.1_Nonsense_Mutation_p.E260*|LIMS2_uc002toz.2_Nonsense_Mutation_p.E233*|LIMS2_uc002tpb.2_Nonsense_Mutation_p.E233*	p.E238*	NM_001161403	NP_001154875	Q7Z4I7	LIMS2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0681)	7	878	-	Colorectal(110;0.1)		238			LIM zinc-binding 4.		A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Nonsense_Mutation	SNP	ENST00000355119.4	37	c.712G>T	CCDS54395.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	39|39	7.334860|7.334860	0.98217|0.98217	.|.	.|.	ENSG00000072163|ENSG00000072163	ENST00000545738;ENST00000355119;ENST00000409286;ENST00000409754;ENST00000324938;ENST00000409455;ENST00000410109;ENST00000409808;ENST00000410011;ENST00000342067;ENST00000537572;ENST00000410038;ENST00000544917;ENST00000409254|ENST00000426981	.|.	.|.	.|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.78566	.|0.4303	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.81786	.|-0.0773	.|4	0.59425|0.87932	D|D	0.04|0	.|.	18.6598|18.6598	0.91468|0.91468	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	260;238;86;86;262;233;233;233;233;146;86;86;260;86|65	.|.	ENSP00000326888:E262X|ENSP00000388611:M35I	E|M	-|-	1|3	0|0	LIMS2|LIMS2	128114982|128114982	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.989000|0.989000	0.77384|0.77384	7.727000|7.727000	0.84838|0.84838	2.419000|2.419000	0.82065|0.82065	0.591000|0.591000	0.81541|0.81541	GAG|ATG		PASS	0.622	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331133.2	NM_017980		7	158	7	158	---	---	---	---
AMER3	205147	broad.mit.edu	37	2	131521044	131521044	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:131521044G>C	ENST00000423981.1	+	2	1509	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q	AMER3_ENST00000321420.4_Missense_Mutation_p.E467Q	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	467					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.E467Q(1)									AGTGGGGGCCGAGGAGAACTT	0.637																																						uc002trw.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(1399-1401)GAG>CAG		hypothetical protein LOC205147							27.0	29.0	28.0					2																	131521044		2202	4300	6502	SO:0001583	missense	205147							g.chr2:131521044G>C	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1399G>C	2.37:g.131521044G>C	ENSP00000392700:p.Glu467Gln					FAM123C_uc010fmv.2_Missense_Mutation_p.E467Q|FAM123C_uc010fms.1_Missense_Mutation_p.E467Q|FAM123C_uc010fmt.1_Missense_Mutation_p.E467Q|FAM123C_uc010fmu.1_Missense_Mutation_p.E467Q	p.E467Q	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1589	+	Colorectal(110;0.1)		467					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1399G>C	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241384	0.79912	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.59364	0.27;0.27	5.16	5.16	0.70880	.	0.000000	0.52532	D	0.000077	T	0.67515	0.2901	L	0.32530	0.975	0.38878	D	0.956857	D	0.89917	1.0	D	0.85130	0.997	T	0.72286	-0.4338	10	0.87932	D	0	.	16.5146	0.84296	0.0:0.0:1.0:0.0	.	467	Q8N944	F123C_HUMAN	Q	467	ENSP00000314914:E467Q;ENSP00000392700:E467Q	ENSP00000314914:E467Q	E	+	1	0	FAM123C	131237514	1.000000	0.71417	0.956000	0.39512	0.971000	0.66376	7.565000	0.82337	2.571000	0.86741	0.561000	0.74099	GAG		PASS	0.637	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		16	50	16	50	---	---	---	---
ARHGAP15	55843	broad.mit.edu	37	2	144381754	144381754	+	Silent	SNP	C	C	A	rs149563619		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:144381754C>A	ENST00000295095.6	+	12	1223	c.1056C>A	c.(1054-1056)acC>acA	p.T352T		NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	352	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)	p.T352T(1)		endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		ACGTTGTCACCGGAGCACTGA	0.473																																						uc002tvm.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1054-1056)ACC>ACA		ARHGAP15							103.0	96.0	98.0					2																	144381754		2203	4300	6503	SO:0001819	synonymous_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144381754C>A	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.1056C>A	2.37:g.144381754C>A						ARHGAP15_uc002tvn.2_Silent_p.T118T	p.T352T	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	12	1207	+			352			Rho-GAP.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Silent	SNP	ENST00000295095.6	37	c.1056C>A	CCDS2184.1																																																																																				PASS	0.473	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		41	37	41	37	---	---	---	---
GTDC1	79712	broad.mit.edu	37	2	144710406	144710406	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:144710406C>T	ENST00000392869.2	-	9	1287	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	GTDC1_ENST00000409214.1_Missense_Mutation_p.E379K|GTDC1_ENST00000409298.1_Missense_Mutation_p.E261K|GTDC1_ENST00000344850.4_Missense_Mutation_p.E379K|GTDC1_ENST00000463875.2_Missense_Mutation_p.E250K|AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000241391.5_Missense_Mutation_p.E294K|GTDC1_ENST00000542155.1_Missense_Mutation_p.E379K|GTDC1_ENST00000392867.3_Missense_Mutation_p.E294K	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	379					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)	p.E379K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TACACAGCTTCCAACCTAGAA	0.353																																						uc002tvp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1135-1137)GAA>AAA		glycosyltransferase-like domain containing 1							67.0	77.0	74.0					2																	144710406		2203	4298	6501	SO:0001583	missense	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144710406C>T	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.1135G>A	2.37:g.144710406C>T	ENSP00000376608:p.Glu379Lys					GTDC1_uc002tvo.2_Nonsense_Mutation_p.W330*|GTDC1_uc002tvq.2_Missense_Mutation_p.E261K|GTDC1_uc002tvr.2_Missense_Mutation_p.E294K|GTDC1_uc010fnn.2_Missense_Mutation_p.E379K|GTDC1_uc002tvs.2_Missense_Mutation_p.E347K|GTDC1_uc010fno.2_Missense_Mutation_p.E250K	p.E379K	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	10	1414	-			379					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	c.1135G>A	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931119	0.92389	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000409298;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000463875	D;D;T;D;D;T;D;D	0.94613	-3.47;-3.47;-0.04;-3.47;-3.47;-0.04;-3.47;-3.47	5.18	5.18	0.71444	Glycosyl transferase, family 1 (1);	0.000000	0.85682	D	0.000000	D	0.97914	0.9314	M	0.91038	3.17	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.91635	0.997;0.969;0.999;0.998	D	0.98753	1.0721	10	0.87932	D	0	-2.993	19.0623	0.93097	0.0:1.0:0.0:0.0	.	379;294;261;379	G1UFN1;Q4AE62-2;B8ZZ45;Q4AE62	.;.;.;GTDC1_HUMAN	K	379;379;294;261;379;294;379;250	ENSP00000376608:E379K;ENSP00000386581:E379K;ENSP00000376606:E294K;ENSP00000386691:E261K;ENSP00000438323:E379K;ENSP00000241391:E294K;ENSP00000339750:E379K;ENSP00000437964:E250K	ENSP00000241391:E294K	E	-	1	0	GTDC1	144426876	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.994000	0.76251	2.569000	0.86673	0.650000	0.86243	GAA		PASS	0.353	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		11	208	11	208	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152553725	152553725	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:152553725G>A	ENST00000172853.10	-	16	1554	c.1407C>T	c.(1405-1407)ggC>ggT	p.G469G	NEB_ENST00000603639.1_Silent_p.G469G|NEB_ENST00000427231.2_Silent_p.G469G|NEB_ENST00000397345.3_Silent_p.G469G|NEB_ENST00000604864.1_Silent_p.G469G|NEB_ENST00000409198.1_Silent_p.G469G			P20929	NEBU_HUMAN	nebulin	469					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.G469G(2)		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)		GAGGGAAGAAGCCTTTGCCTC	0.383																																						uc010fnx.2																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(1405-1407)GGC>GGT		nebulin isoform 3							204.0	177.0	186.0					2																	152553725		1867	4112	5979	SO:0001819	synonymous_variant	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.chr2:152553725G>A	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.1407C>T	2.37:g.152553725G>A						NEB_uc010fny.1_Silent_p.G23G	p.G469G	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	16	1598	-			469					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.1407C>T																																																																																					PASS	0.383	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		50	117	50	117	---	---	---	---
COBLL1	22837	broad.mit.edu	37	2	165551453	165551453	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:165551453C>T	ENST00000392717.2	-	13	2681	c.2677G>A	c.(2677-2679)Gat>Aat	p.D893N	COBLL1_ENST00000342193.4_Missense_Mutation_p.D855N|COBLL1_ENST00000409184.3_Missense_Mutation_p.D855N|COBLL1_ENST00000194871.6_Missense_Mutation_p.D922N|COBLL1_ENST00000375458.2_Missense_Mutation_p.D817N			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	893						extracellular vesicular exosome (GO:0070062)		p.D855N(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						ACCATGGCATCATCAGGTGAG	0.453																																						uc010zcw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2764-2766)GAT>AAT		COBL-like 1							114.0	109.0	110.0					2																	165551453		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165551453C>T	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2677G>A	2.37:g.165551453C>T	ENSP00000376478:p.Asp893Asn					COBLL1_uc002ucp.2_Missense_Mutation_p.D855N|COBLL1_uc002ucq.2_Missense_Mutation_p.D817N|COBLL1_uc010zcx.1_Missense_Mutation_p.D863N|COBLL1_uc002ucn.2_Missense_Mutation_p.D283N|COBLL1_uc002uco.2_Missense_Mutation_p.D586N	p.D922N	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN			15	2888	-			893					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.2764G>A		.	.	.	.	.	.	.	.	.	.	C	0.327	-0.958393	0.02267	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.17	-5.8	0.02347	.	1.027020	0.07700	N	0.940142	T	0.18130	0.0435	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.13145	0.001;0.007;0.001	B;B;B	0.15484	0.0;0.013;0.001	T	0.35500	-0.9786	9	0.18276	T	0.48	1.12	12.8371	0.57780	0.0:0.4586:0.0764:0.465	.	893;922;855	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	N	817;855;855;893;922	.	ENSP00000194871:D922N	D	-	1	0	COBLL1	165259699	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.722000	0.04958	-1.487000	0.01849	-0.137000	0.14449	GAT		PASS	0.453	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		11	186	11	186	---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166165188	166165188	+	Silent	SNP	A	A	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:166165188A>G	ENST00000375437.2	+	5	779	c.489A>G	c.(487-489)acA>acG	p.T163T	SCN2A_ENST00000375427.2_Silent_p.T163T|SCN2A_ENST00000357398.3_Silent_p.T163T|SCN2A_ENST00000283256.6_Silent_p.T163T	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	163					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.T163T(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATACCTTTACAGGAATTTATA	0.308																																						uc002udc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(487-489)ACA>ACG		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						68.0	74.0	72.0					2																	166165188		2199	4296	6495	SO:0001819	synonymous_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166165188A>G	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.489A>G	2.37:g.166165188A>G						SCN2A_uc002udd.2_Silent_p.T163T|SCN2A_uc002ude.2_Silent_p.T163T	p.T163T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			5	779	+			163			I.|Helical; Name=S2 of repeat I; (Potential).		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.489A>G	CCDS33314.1																																																																																				PASS	0.308	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		54	167	54	167	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168106414	168106414	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:168106414G>T	ENST00000409195.1	+	9	8601	c.8512G>T	c.(8512-8514)Gaa>Taa	p.E2838*	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.E2838*|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.E2616*|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2663					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.E2838*(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						ATTAATAACTGAAAGAAAACA	0.383																																						uc002udx.2																			1	Substitution - Nonsense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(8512-8514)GAA>TAA		xin actin-binding repeat containing 2 isoform 1							96.0	93.0	94.0					2																	168106414		1848	4098	5946	SO:0001587	stop_gained	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106414G>T	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.8512G>T	2.37:g.168106414G>T	ENSP00000386840:p.Glu2838*					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Nonsense_Mutation_p.E2663*|XIRP2_uc010fpq.2_Nonsense_Mutation_p.E2616*|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Nonsense_Mutation_p.E184*	p.E2838*	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	8530	+			2663					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	SNP	ENST00000409195.1	37	c.8512G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	50	16.282827	0.99859	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	.	.	.	6.02	4.12	0.48240	.	0.485666	0.22804	N	0.055432	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-25.7713	8.681	0.34209	0.0825:0.2906:0.6269:0.0	.	.	.	.	X	2838;2838;2616;252	.	ENSP00000295237:E2838X	E	+	1	0	XIRP2	167814660	0.128000	0.22383	0.904000	0.35570	0.626000	0.37791	1.082000	0.30803	1.551000	0.49450	0.655000	0.94253	GAA		PASS	0.383	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		8	181	8	181	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170151127	170151127	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:170151127G>A	ENST00000263816.3	-	5	806	c.521C>T	c.(520-522)tCa>tTa	p.S174L	LRP2_ENST00000443831.1_Missense_Mutation_p.S174L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	174	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.S174L(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GATTTCATCTGAGGAGTCCCT	0.438																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(520-522)TCA>TTA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						100.0	86.0	91.0					2																	170151127		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170151127G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.521C>T	2.37:g.170151127G>A	ENSP00000263816:p.Ser174Leu					LRP2_uc010zdf.1_Missense_Mutation_p.S174L	p.S174L	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	5	734	-			174			LDL-receptor class A 4.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.521C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555072	0.65425	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.93189	-3.18;-3.18	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.97648	0.9229	M	0.92833	3.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.98150	1.0441	9	.	.	.	.	19.3733	0.94498	0.0:0.0:1.0:0.0	.	174;174	E9PC35;P98164	.;LRP2_HUMAN	L	174	ENSP00000263816:S174L;ENSP00000409813:S174L	.	S	-	2	0	LRP2	169859373	1.000000	0.71417	0.720000	0.30636	0.192000	0.23643	9.156000	0.94705	2.668000	0.90789	0.591000	0.81541	TCA		PASS	0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		5	83	5	83	---	---	---	---
WIPF1	7456	broad.mit.edu	37	2	175440079	175440079	+	Missense_Mutation	SNP	C	C	A	rs140541247		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:175440079C>A	ENST00000392547.2	-	4	310	c.211G>T	c.(211-213)Ggt>Tgt	p.G71C	WIPF1_ENST00000409415.3_Missense_Mutation_p.G71C|WIPF1_ENST00000410117.1_Missense_Mutation_p.G71C|WIPF1_ENST00000359761.3_Missense_Mutation_p.G71C|WIPF1_ENST00000272746.5_Missense_Mutation_p.G71C|AC010894.5_ENST00000454203.1_RNA|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.G71C|WIPF1_ENST00000409891.1_Missense_Mutation_p.G71C|AC018890.6_ENST00000442996.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	71	Gly-rich.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.G71C(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						aagccaccaccaccgcctcca	0.592																																						uc002uiy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(211-213)GGT>TGT		WAS/WASL interacting protein family, member 1							81.0	92.0	88.0					2																	175440079		2202	4300	6502	SO:0001583	missense	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175440079C>A	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.211G>T	2.37:g.175440079C>A	ENSP00000376330:p.Gly71Cys					uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.G71C|WIPF1_uc010fqt.1_Missense_Mutation_p.G71C|WIPF1_uc002ujc.1_Missense_Mutation_p.G71C|WIPF1_uc002uiz.2_Missense_Mutation_p.G71C|WIPF1_uc002ujb.1_Missense_Mutation_p.G71C|WIPF1_uc010zep.1_Missense_Mutation_p.G71C	p.G71C	NM_003387	NP_003378	O43516	WIPF1_HUMAN			5	543	-			71			Gly-rich.		B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	c.211G>T	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679414	0.47886	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415;ENST00000455428;ENST00000410117;ENST00000436221	D;D;D;D;D;D;T;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6;-2.6;0.73;-1.5;-1.5	5.22	2.34	0.29019	.	0.079382	0.46758	D	0.000266	D	0.88983	0.6586	L	0.56769	1.78	0.21579	N	0.999632	D;P;P;P	0.63046	0.992;0.898;0.938;0.898	P;P;P;P	0.54100	0.742;0.557;0.632;0.557	T	0.81280	-0.1004	10	0.66056	D	0.02	.	7.5088	0.27562	0.1378:0.7149:0.0:0.1474	.	71;71;71;71	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	C	71;71;71;71;71;71;71;68;71;71	ENSP00000376330:G71C;ENSP00000272746:G71C;ENSP00000352802:G71C;ENSP00000376329:G71C;ENSP00000386431:G71C;ENSP00000387150:G71C;ENSP00000391785:G68C;ENSP00000386757:G71C;ENSP00000388454:G71C	ENSP00000272746:G71C	G	-	1	0	WIPF1	175148325	0.007000	0.16637	0.000000	0.03702	0.161000	0.22273	1.715000	0.37971	0.174000	0.19809	0.462000	0.41574	GGT		PASS	0.592	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		53	162	53	162	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179398902	179398902	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:179398902C>A	ENST00000591111.1	-	308	97741	c.97517G>T	c.(97516-97518)gGt>gTt	p.G32506V	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G25207V|TTN_ENST00000460472.2_Missense_Mutation_p.G25082V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G25274V|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G31579V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G34147V|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589355.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32506	Ig-like 143.				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.G25274V(1)|p.G31579V(1)|p.G25082V(1)|p.G31577V(1)|p.G25207V(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)			TCCTTCTTCACCAACTGCATG	0.438																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(94735-94737)GGT>GTT		titin isoform N2-A							114.0	111.0	112.0					2																	179398902		1937	4146	6083	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179398902C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97517G>T	2.37:g.179398902C>A	ENSP00000465570:p.Gly32506Val					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G25274V|TTN_uc010zfi.1_Missense_Mutation_p.G25207V|TTN_uc010zfj.1_Missense_Mutation_p.G25082V	p.G31579V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	94960	-			32506					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.94736G>T		.	.	.	.	.	.	.	.	.	.	C	12.11	1.840520	0.32513	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	5.48	3.63	0.41609	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.26268	0.0641	N	0.00642	-1.3	0.58432	D	0.999998	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.10660	-1.0620	9	0.87932	D	0	.	10.8315	0.46663	0.1366:0.599:0.2644:0.0	.	25082;25207;25274;32506	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	31579;25082;25274;25207;25079	ENSP00000343764:G31579V;ENSP00000434586:G25082V;ENSP00000340554:G25274V;ENSP00000352154:G25207V	ENSP00000340554:G25274V	G	-	2	0	TTN	179107148	0.027000	0.19231	0.954000	0.39281	0.997000	0.91878	1.151000	0.31651	0.748000	0.32831	0.555000	0.69702	GGT		PASS	0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		50	153	50	153	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179404670	179404670	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:179404670C>T	ENST00000591111.1	-	302	93423	c.93199G>A	c.(93199-93201)Gaa>Aaa	p.E31067K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E23768K|TTN_ENST00000460472.2_Missense_Mutation_p.E23643K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E23835K|TTN_ENST00000342992.6_Missense_Mutation_p.E30140K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E32708K|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591867.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31067	Ig-like 139.				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.E30140K(1)|p.E30138K(1)|p.E23643K(1)|p.E23835K(1)|p.E23768K(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)			TGGTATCTTTCATCAAGTTCA	0.383																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(90418-90420)GAA>AAA		titin isoform N2-A							97.0	90.0	92.0					2																	179404670		1884	4114	5998	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179404670C>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.93199G>A	2.37:g.179404670C>T	ENSP00000465570:p.Glu31067Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E23835K|TTN_uc010zfi.1_Missense_Mutation_p.E23768K|TTN_uc010zfj.1_Missense_Mutation_p.E23643K	p.E30140K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		301	90642	-			31067					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.90418G>A		.	.	.	.	.	.	.	.	.	.	C	16.72	3.201788	0.58234	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62364	0.03;0.26;0.23;0.23	6.17	6.17	0.99709	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.48786	0.1519	N	0.08118	0	0.33180	D	0.549484	B;B;B;B	0.22080	0.064;0.064;0.064;0.064	B;B;B;B	0.18263	0.021;0.021;0.021;0.021	T	0.55927	-0.8063	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	23643;23768;23835;31067	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	30140;23643;23835;23768;23640	ENSP00000343764:E30140K;ENSP00000434586:E23643K;ENSP00000340554:E23835K;ENSP00000352154:E23768K	ENSP00000340554:E23835K	E	-	1	0	TTN	179112916	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.867000	0.48428	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	205	5	205	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179404840	179404840	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:179404840C>A	ENST00000591111.1	-	301	93354	c.93130G>T	c.(93130-93132)Gag>Tag	p.E31044*	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E23745*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E23620*|TTN-AS1_ENST00000592600.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E23812*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E30117*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E32685*|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591867.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31044	Fibronectin type-III 126. {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.E30115*(1)|p.E30117*(1)|p.E23620*(1)|p.E23812*(1)|p.E23745*(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)			TCAGCAGGCTCACCAGGTCCA	0.458																																						uc010zfg.1																			5	Substitution - Nonsense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(90349-90351)GAG>TAG		titin isoform N2-A							206.0	207.0	207.0					2																	179404840		1997	4169	6166	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179404840C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.93130G>T	2.37:g.179404840C>A	ENSP00000465570:p.Glu31044*					uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.E23812*|TTN_uc010zfi.1_Nonsense_Mutation_p.E23745*|TTN_uc010zfj.1_Nonsense_Mutation_p.E23620*	p.E30117*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		300	90573	-			31044					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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.90349G>T		.	.	.	.	.	.	.	.	.	.	C	69	108.663445	0.99998	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	.	.	.	X	30117;23620;23812;23745;23617	.	ENSP00000340554:E23812X	E	-	1	0	TTN	179113086	1.000000	0.71417	0.995000	0.50966	0.693000	0.40251	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	GAG		PASS	0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	365	11	365	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179416881	179416881	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:179416881G>A	ENST00000591111.1	-	285	86047	c.85823C>T	c.(85822-85824)cCt>cTt	p.P28608L	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P21309L|TTN_ENST00000460472.2_Missense_Mutation_p.P21184L|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P21376L|TTN_ENST00000342992.6_Missense_Mutation_p.P27681L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P30249L|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28608	Fibronectin type-III 108. {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.P21376L(1)|p.P27679L(1)|p.P21309L(1)|p.P21184L(1)|p.P27681L(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)			ATTATCTTCAGGTACATCCCA	0.458																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(83041-83043)CCT>CTT		titin isoform N2-A							155.0	154.0	154.0					2																	179416881		1950	4148	6098	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179416881G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.85823C>T	2.37:g.179416881G>A	ENSP00000465570:p.Pro28608Leu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P21376L|TTN_uc010zfi.1_Missense_Mutation_p.P21309L|TTN_uc010zfj.1_Missense_Mutation_p.P21184L	p.P27681L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		284	83266	-			28608					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.83042C>T		.	.	.	.	.	.	.	.	.	.	G	18.74	3.687830	0.68271	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	5.9	5.9	0.94986	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.93423	0.7902	H	0.99650	4.68	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.95835	0.8861	9	0.87932	D	0	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	21184;21309;21376;28608	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	27681;21184;21376;21309;21181	ENSP00000343764:P27681L;ENSP00000434586:P21184L;ENSP00000340554:P21376L;ENSP00000352154:P21309L	ENSP00000340554:P21376L	P	-	2	0	TTN	179125127	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.869000	0.99810	2.806000	0.96561	0.655000	0.94253	CCT		PASS	0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		186	149	186	149	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179464429	179464429	+	Silent	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:179464429G>C	ENST00000591111.1	-	239	51500	c.51276C>G	c.(51274-51276)ctC>ctG	p.L17092L	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.L9793L|TTN_ENST00000460472.2_Silent_p.L9668L|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Silent_p.L9860L|TTN_ENST00000342992.6_Silent_p.L16165L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.L18733L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17092	Ig-like 102.				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.L9860L(1)|p.L16163L(1)|p.L16165L(1)|p.L9793L(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)			GGGTGTCATAGAGAACAGGTT	0.438																																						uc010zfg.1																			4	Substitution - coding silent(4)		lung(4)	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.(48493-48495)CTC>CTG		titin isoform N2-A							165.0	157.0	159.0					2																	179464429		1888	4104	5992	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179464429G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51276C>G	2.37:g.179464429G>C						uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L9860L|TTN_uc010zfi.1_Silent_p.L9793L|TTN_uc010zfj.1_Silent_p.L9668L	p.L16165L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		238	48719	-			17092					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.48495C>G																																																																																					PASS	0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	285	29	285	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179514921	179514921	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:179514921C>G	ENST00000591111.1	-	165	35490	c.35266G>C	c.(35266-35268)Gag>Cag	p.E11756Q	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10829Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E13263Q|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11756	Glu-rich.|Pro-rich.				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.E10829Q(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)			GGTTCCTCCTCTTCTGCAACA	0.383																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	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.(32485-32487)GAG>CAG		titin isoform N2-A							28.0	28.0	28.0					2																	179514921		1825	4081	5906	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179514921C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35266G>C	2.37:g.179514921C>G	ENSP00000465570:p.Glu11756Gln					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_RNA|TTN_uc002umx.1_5'UTR	p.E10829Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		164	32709	-			11756					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.32485G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.30|11.30	1.596787|1.596787	0.28445|0.28445	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000342992;ENST00000429997;ENST00000446966;ENST00000434777|ENST00000426232	T;T|.	0.67865|.	-0.29;-0.16|.	5.11|5.11	5.11|5.11	0.69529|0.69529	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.54447|0.54447	0.1859|0.1859	L|L	0.29908|0.29908	0.895|0.895	0.46701|0.46701	D|D	0.999167|0.999167	B|.	0.11235|.	0.004|.	B|.	0.06405|.	0.002|.	T|T	0.48581|0.48581	-0.9023|-0.9023	9|5	0.87932|.	D|.	0|.	.|.	14.3517|14.3517	0.66708|0.66708	0.0:0.8522:0.1478:0.0|0.0:0.8522:0.1478:0.0	.|.	11756|.	Q8WZ42|.	TITIN_HUMAN|.	Q|T	10829;102;102;56|103	ENSP00000343764:E10829Q;ENSP00000408004:E102Q|.	ENSP00000343764:E10829Q|.	E|R	-|-	1|2	0|0	TTN|TTN	179223166|179223166	0.002000|0.002000	0.14202|0.14202	0.982000|0.982000	0.44146|0.44146	0.973000|0.973000	0.67179|0.67179	0.235000|0.235000	0.17948|0.17948	2.649000|2.649000	0.89929|0.89929	0.650000|0.650000	0.86243|0.86243	GAG|AGA		PASS	0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	19	3	19	---	---	---	---
DNAJC10	54431	broad.mit.edu	37	2	183623921	183623921	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:183623921C>G	ENST00000264065.7	+	21	2447	c.2032C>G	c.(2032-2034)Cag>Gag	p.Q678E		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	678	Thioredoxin 4. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)	p.Q678E(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCTAACACCTCAGACTTTCAG	0.343																																					Pancreas(56;860 1183 25669 35822 48585)	uc002uow.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|skin(1)	4						c.(2032-2034)CAG>GAG		DnaJ (Hsp40) homolog, subfamily C, member 10							76.0	75.0	75.0					2																	183623921		2203	4300	6503	SO:0001583	missense	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183623921C>G		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.2032C>G	2.37:g.183623921C>G	ENSP00000264065:p.Gln678Glu					DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Missense_Mutation_p.Q632E|DNAJC10_uc010fro.1_RNA	p.Q678E	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		21	2447	+			678			Thioredoxin 4.		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	c.2032C>G	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	C	4.378	0.069678	0.08436	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.36520	1.25	6.17	6.17	0.99709	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.062228	0.64402	D	0.000002	T	0.12347	0.0300	N	0.00750	-1.22	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.29243	-1.0018	10	0.02654	T	1	.	16.2608	0.82541	0.0:0.8683:0.1316:0.0	.	632;678	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	E	678;632	ENSP00000264065:Q678E	ENSP00000264065:Q678E	Q	+	1	0	DNAJC10	183332166	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.139000	0.58024	2.941000	0.99782	0.655000	0.94253	CAG		PASS	0.343	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		3	134	3	134	---	---	---	---
COL3A1	1281	broad.mit.edu	37	2	189861890	189861890	+	Splice_Site	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:189861890G>T	ENST00000304636.3	+	25	1931		c.e25-1		COL3A1_ENST00000317840.5_Splice_Site	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1						aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.?(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TTCTTCTTTAGGGTGCTCCTG	0.393																																						uc002uqj.1																			1	Unknown(1)		lung(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.e25-1		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						108.0	109.0	109.0					2																	189861890		2203	4300	6503	SO:0001630	splice_region_variant	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189861890G>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1762-1G>T	2.37:g.189861890G>T							p.G588_splice	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		25	1879	+								D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Splice_Site	SNP	ENST00000304636.3	37	c.1762_splice	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585502	0.86748	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1547	0.98103	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL3A1	189570135	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	9.837000	0.99465	2.868000	0.98415	0.555000	0.69702	.		PASS	0.393	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	Intron	42	140	42	140	---	---	---	---
PMS1	5378	broad.mit.edu	37	2	190708783	190708783	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:190708783C>G	ENST00000441310.2	+	6	909	c.676C>G	c.(676-678)Cag>Gag	p.Q226E	PMS1_ENST00000421722.1_Intron|PMS1_ENST00000418224.3_Missense_Mutation_p.Q50E|PMS1_ENST00000409823.3_Intron|PMS1_ENST00000432292.3_Missense_Mutation_p.Q50E|PMS1_ENST00000447232.2_Missense_Mutation_p.Q226E	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	226					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)	p.Q226E(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GGAATCCTTTCAGTACCACTC	0.408			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														uc002urh.3			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	Mis|N	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		colorectal|endometrial|ovarian			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(676-678)CAG>GAG	Direct_reversal_of_damage|MMR	postmeiotic segregation 1 isoform a							106.0	98.0	101.0					2																	190708783		2203	4300	6503	SO:0001583	missense	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190708783C>G		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.676C>G	2.37:g.190708783C>G	ENSP00000406490:p.Gln226Glu					PMS1_uc010zga.1_Intron|PMS1_uc010zgb.1_Missense_Mutation_p.Q165E|PMS1_uc002urk.3_Intron|PMS1_uc002uri.3_Missense_Mutation_p.Q226E|PMS1_uc010zgc.1_Missense_Mutation_p.Q50E|PMS1_uc010zgd.1_Missense_Mutation_p.Q50E|PMS1_uc002urj.2_Intron|PMS1_uc010fry.1_Intron|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Intron|PMS1_uc002urm.2_RNA	p.Q226E	NM_000534	NP_000525	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		6	1205	+			226					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.676C>G	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	C	7.488	0.649972	0.14516	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000447232;ENST00000432292;ENST00000424307	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	6.02	1.93	0.25924	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);	0.255086	0.47455	N	0.000239	T	0.70316	0.3210	N	0.19112	0.55	0.37524	D	0.917665	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.003	T	0.62196	-0.6905	10	0.08837	T	0.75	-3.3376	18.3926	0.90489	0.0:0.5348:0.4652:0.0	.	226;226;226	Q4VAL4;Q5FBZ8;P54277	.;.;PMS1_HUMAN	E	50;226;50;226;50;165	ENSP00000406490:Q226E;ENSP00000404492:Q50E;ENSP00000401064:Q226E;ENSP00000398378:Q50E;ENSP00000389938:Q165E	ENSP00000376149:Q50E	Q	+	1	0	PMS1	190417028	1.000000	0.71417	0.042000	0.18584	0.622000	0.37654	1.050000	0.30404	0.371000	0.24564	-0.156000	0.13503	CAG		PASS	0.408	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			4	180	4	180	---	---	---	---
SGOL2	151246	broad.mit.edu	37	2	201399838	201399838	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:201399838G>C	ENST00000357799.4	+	3	351	c.253G>C	c.(253-255)Gaa>Caa	p.E85Q	SGOL2_ENST00000409203.3_Missense_Mutation_p.E85Q	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	85					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.E85Q(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						ATTGCAAAAAGAAGTAGAGAA	0.303																																						uc002uvw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(253-255)GAA>CAA		shugoshin-like 2 isoform 1							74.0	68.0	70.0					2																	201399838		1812	4067	5879	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201399838G>C	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.253G>C	2.37:g.201399838G>C	ENSP00000350447:p.Glu85Gln					SGOL2_uc002uvv.3_Missense_Mutation_p.E85Q|SGOL2_uc010zhd.1_Missense_Mutation_p.E85Q|SGOL2_uc010zhe.1_Missense_Mutation_p.E85Q	p.E85Q	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			3	366	+			85			Potential.		Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.253G>C	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779788	0.70222	.	.	ENSG00000163535	ENST00000418045;ENST00000357799;ENST00000409203	T;T;T	0.25085	1.82;1.82;1.82	5.61	4.72	0.59763	.	0.000000	0.53938	D	0.000042	T	0.48926	0.1527	M	0.66939	2.045	0.30312	N	0.788461	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.998	T	0.55211	-0.8176	10	0.72032	D	0.01	-21.3415	13.8833	0.63693	0.0:0.0:0.8471:0.1528	.	85;85;85;85	B7Z7S9;Q562F6-2;Q562F6;Q562F6-3	.;.;SGOL2_HUMAN;.	Q	85	ENSP00000393325:E85Q;ENSP00000350447:E85Q;ENSP00000386249:E85Q	ENSP00000350447:E85Q	E	+	1	0	SGOL2	201108083	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.306000	0.72810	1.343000	0.45638	-0.182000	0.12963	GAA		PASS	0.303	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		13	125	13	125	---	---	---	---
SGOL2	151246	broad.mit.edu	37	2	201438273	201438273	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:201438273G>C	ENST00000357799.4	+	7	3302	c.3204G>C	c.(3202-3204)caG>caC	p.Q1068H		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1068					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.Q1068H(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GAGAGTGTCAGGTTAAAAAGG	0.363																																						uc002uvw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(3202-3204)CAG>CAC		shugoshin-like 2 isoform 1							77.0	76.0	76.0					2																	201438273		1817	4080	5897	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201438273G>C	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.3204G>C	2.37:g.201438273G>C	ENSP00000350447:p.Gln1068His					SGOL2_uc010zhd.1_Missense_Mutation_p.Q1068H|SGOL2_uc010zhe.1_Missense_Mutation_p.Q1068H	p.Q1068H	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			7	3317	+			1068					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.3204G>C	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016989	0.54576	.	.	ENSG00000163535	ENST00000357799	T	0.11712	2.75	5.38	-1.49	0.08718	.	0.556812	0.15105	N	0.280308	T	0.08133	0.0203	L	0.46157	1.445	0.09310	N	1	B;B;B	0.28933	0.228;0.228;0.228	B;B;B	0.26969	0.075;0.075;0.075	T	0.24548	-1.0157	10	0.72032	D	0.01	1.9357	4.4055	0.11407	0.5175:0.0:0.3097:0.1728	.	1068;1068;1068	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	H	1068	ENSP00000350447:Q1068H	ENSP00000350447:Q1068H	Q	+	3	2	SGOL2	201146518	0.000000	0.05858	0.000000	0.03702	0.449000	0.32228	-0.207000	0.09384	-0.099000	0.12263	-0.128000	0.14901	CAG		PASS	0.363	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		143	97	143	97	---	---	---	---
NIF3L1	60491	broad.mit.edu	37	2	201756805	201756805	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:201756805G>A	ENST00000409020.1	+	2	433	c.139G>A	c.(139-141)Gag>Aag	p.E47K	PPIL3_ENST00000286175.8_5'Flank|NIF3L1_ENST00000359683.4_Missense_Mutation_p.E20K|PPIL3_ENST00000409361.1_5'Flank|NIF3L1_ENST00000416651.1_Missense_Mutation_p.E47K|NIF3L1_ENST00000409588.1_Missense_Mutation_p.E47K|PPIL3_ENST00000409449.1_5'Flank|NIF3L1_ENST00000409357.1_Missense_Mutation_p.E47K|PPIL3_ENST00000465823.1_5'Flank|PPIL3_ENST00000392283.4_5'Flank			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	47					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)	p.E47K(1)|p.E20K(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						CTCGTTTGCTGAGAGTTGGGA	0.468																																						uc002uwm.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(139-141)GAG>AAG		NIF3 NGG1 interacting factor 3-like 1 isoform 1							162.0	147.0	152.0					2																	201756805		1980	4150	6130	SO:0001583	missense	60491				positive regulation of transcription, DNA-dependent		transcription factor binding	g.chr2:201756805G>A	AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"""NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1"", ""NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"""	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.139G>A	2.37:g.201756805G>A	ENSP00000386394:p.Glu47Lys					PPIL3_uc002uwh.2_5'Flank|PPIL3_uc002uwi.2_5'Flank|PPIL3_uc002uwj.2_5'Flank|PPIL3_uc002uwk.2_5'Flank|NIF3L1_uc002uwl.2_Missense_Mutation_p.E20K|NIF3L1_uc002uwn.2_Missense_Mutation_p.E20K|NIF3L1_uc002uwo.2_Missense_Mutation_p.E47K|NIF3L1_uc002uwp.2_Missense_Mutation_p.E47K|NIF3L1_uc002uwq.2_Missense_Mutation_p.E47K	p.E47K	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN			2	230	+			47					Q53TX4|Q6X735|Q9H2D2|Q9HC18	Missense_Mutation	SNP	ENST00000409020.1	37	c.139G>A	CCDS46485.1	.	.	.	.	.	.	.	.	.	.	G	35	5.552266	0.96501	.	.	ENSG00000196290	ENST00000426253;ENST00000416651;ENST00000454952;ENST00000409020;ENST00000359683;ENST00000409357;ENST00000409129;ENST00000374679;ENST00000409588	T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.74291	0.3697	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;0.989	D;D	0.85130	0.997;0.954	T	0.79042	-0.1965	10	0.72032	D	0.01	-22.2905	18.7215	0.91697	0.0:0.0:1.0:0.0	.	47;47	Q6X735;Q9GZT8	.;NIF3L_HUMAN	K	20;47;47;47;20;47;20;47;47	ENSP00000412761:E20K;ENSP00000400787:E47K;ENSP00000394955:E47K;ENSP00000386394:E47K;ENSP00000352711:E20K;ENSP00000387315:E47K;ENSP00000387061:E20K;ENSP00000387021:E47K	ENSP00000352711:E20K	E	+	1	0	NIF3L1	201465050	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.577000	0.98196	2.521000	0.84997	0.455000	0.32223	GAG		PASS	0.468	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336201.1	NM_021824		8	203	8	203	---	---	---	---
ALS2CR11	151254	broad.mit.edu	37	2	202483662	202483662	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:202483662C>G	ENST00000286195.3	-	1	236	c.192G>C	c.(190-192)aaG>aaC	p.K64N	ALS2CR11_ENST00000439140.1_Missense_Mutation_p.K64N|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.K64N|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.K64N	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	64								p.K64N(3)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						GGTTCTTGTTCTTAGGCAGGG	0.652																																						uc002uye.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(1)|ovary(1)|skin(1)	3						c.(190-192)AAG>AAC		amyotrophic lateral sclerosis 2 (juvenile)							44.0	43.0	44.0					2																	202483662		2203	4300	6503	SO:0001583	missense	151254							g.chr2:202483662C>G	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.192G>C	2.37:g.202483662C>G	ENSP00000286195:p.Lys64Asn					ALS2CR11_uc002uyf.2_Missense_Mutation_p.K64N|ALS2CR11_uc010fti.2_Missense_Mutation_p.K64N	p.K64N	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN			1	240	-			64					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	ENST00000286195.3	37	c.192G>C	CCDS2349.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.200373	0.38905	.	.	ENSG00000155754	ENST00000286195;ENST00000439802;ENST00000439140;ENST00000450242	T;T;T;T	0.57107	0.43;0.46;0.44;0.42	3.54	1.59	0.23543	.	0.820829	0.10438	N	0.674602	T	0.62938	0.2469	L	0.54323	1.7	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74023	0.974;0.974;0.982	T	0.48091	-0.9065	10	0.66056	D	0.02	.	5.8292	0.18570	0.0:0.7328:0.0:0.2672	.	64;64;64	Q53TS8-2;E9PGG4;Q53TS8	.;.;AL2SA_HUMAN	N	64	ENSP00000286195:K64N;ENSP00000400672:K64N;ENSP00000409937:K64N;ENSP00000399016:K64N	ENSP00000286195:K64N	K	-	3	2	ALS2CR11	202191907	0.001000	0.12720	0.015000	0.15790	0.004000	0.04260	0.302000	0.19192	0.415000	0.25817	-0.252000	0.11476	AAG		PASS	0.652	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		22	67	22	67	---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210559381	210559381	+	Silent	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:210559381C>T	ENST00000360351.4	+	7	2993	c.2487C>T	c.(2485-2487)gcC>gcT	p.A829A	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Silent_p.A825A	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	829					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.A829A(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CTGAGGTTGCCAGGAGGAAAT	0.488																																					Pancreas(27;423 979 28787 29963)	uc002vde.1																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(2485-2487)GCC>GCT		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						123.0	123.0	123.0					2																	210559381		2203	4300	6503	SO:0001819	synonymous_variant	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559381C>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2487C>T	2.37:g.210559381C>T						MAP2_uc002vdc.1_Silent_p.A829A|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.A825A	p.A829A	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	2735	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	829					Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	c.2487C>T	CCDS2384.1																																																																																				PASS	0.488	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		118	68	118	68	---	---	---	---
TMBIM1	64114	broad.mit.edu	37	2	219143270	219143270	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:219143270G>A	ENST00000444881.1	-	7	1166	c.441C>T	c.(439-441)acC>acT	p.T147T	PNKD_ENST00000472650.1_Intron|PNKD_ENST00000273077.4_Intron|TMBIM1_ENST00000258412.3_Silent_p.T147T|TMBIM1_ENST00000445635.1_5'UTR|TMBIM1_ENST00000396809.2_Silent_p.T147T			Q969X1	LFG3_HUMAN	transmembrane BAX inhibitor motif containing 1	147					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of Fas signaling pathway (GO:1902045)|negative regulation of metalloenzyme activity (GO:0048553)|positive regulation of blood vessel remodeling (GO:2000504)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	death receptor binding (GO:0005123)	p.T147T(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)	9		Renal(207;0.0474)		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGATCAGGTAGGTGACAACGA	0.577																																						uc002vho.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(439-441)ACC>ACT		transmembrane BAX inhibitor motif containing 1							111.0	96.0	101.0					2																	219143270		2203	4300	6503	SO:0001819	synonymous_variant	64114					integral to membrane		g.chr2:219143270G>A	BN000408	CCDS2412.1	2q35	2010-03-18			ENSG00000135926	ENSG00000135926			23410	protein-coding gene	gene with protein product		610364				12477932	Standard	NM_022152		Approved	PP1201, RECS1, LFG3	uc002vhp.1	Q969X1	OTTHUMG00000133105	ENST00000444881.1:c.441C>T	2.37:g.219143270G>A						PNKD_uc002vhn.2_Intron|TMBIM1_uc002vhp.1_Silent_p.T147T|TMBIM1_uc010zjz.1_5'UTR|TMBIM1_uc010zka.1_Silent_p.T36T	p.T147T	NM_022152	NP_071435	Q969X1	TMBI1_HUMAN		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1167	-		Renal(207;0.0474)	147			Helical; (Potential).		B3KQY6|Q8N1R3|Q8TAM3|Q96K13	Silent	SNP	ENST00000444881.1	37	c.441C>T	CCDS2412.1																																																																																				PASS	0.577	TMBIM1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338559.1	NM_022152		4	142	4	142	---	---	---	---
CTDSP1	58190	broad.mit.edu	37	2	219267953	219267953	+	Splice_Site	SNP	A	A	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:219267953A>T	ENST00000273062.2	+	6	807		c.e6-1		CTDSP1_ENST00000443891.1_Splice_Site|MIR26B_ENST00000362251.2_RNA|CTDSP1_ENST00000488627.1_Splice_Site	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1						negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|protein dephosphorylation (GO:0006470)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)	p.?(1)		NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTGCTCCCAGTACGCAGAC	0.662																																						uc002vhy.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e6-2		CTD (carboxy-terminal domain, RNA polymerase II,							44.0	52.0	49.0					2																	219267953		2203	4300	6503	SO:0001630	splice_region_variant	58190				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding	g.chr2:219267953A>T	AF229162	CCDS2416.1, CCDS56166.1	2q35	2010-06-21			ENSG00000144579	ENSG00000144579		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	21614	protein-coding gene	gene with protein product	"""nuclear LIM interactor-interacting factor"", ""small CTD phosphatase 1"""	605323				11950066, 12721286	Standard	NM_021198		Approved	NLIIF, SCP1	uc021vwv.1	Q9GZU7	OTTHUMG00000133109	ENST00000273062.2:c.472-1A>T	2.37:g.219267953A>T						CTDSP1_uc002vhx.2_Splice_Site_p.Y157_splice|CTDSP1_uc002vhz.2_Splice_Site_p.Y17_splice	p.Y158_splice	NM_021198	NP_067021	Q9GZU7	CTDS1_HUMAN		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	808	+		Renal(207;0.0915)						C9IYG0|Q7Z5Q3|Q7Z5Q4	Splice_Site	SNP	ENST00000273062.2	37	c.472_splice	CCDS2416.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.707903	0.48412	.	.	ENSG00000144579	ENST00000443891;ENST00000273062;ENST00000452977;ENST00000428361	.	.	.	4.16	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.511	0.56005	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTDSP1	218976197	1.000000	0.71417	0.734000	0.30879	0.627000	0.37826	9.268000	0.95675	1.659000	0.50751	0.402000	0.26972	.		PASS	0.662	CTDSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256774.1	NM_182642, NM_021198	Intron	38	99	38	99	---	---	---	---
DGKD	8527	broad.mit.edu	37	2	234371381	234371381	+	Splice_Site	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:234371381G>C	ENST00000264057.2	+	26	3198	c.3186G>C	c.(3184-3186)ctG>ctC	p.L1062L	DGKD_ENST00000409813.3_Splice_Site_p.L1018L	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	1062					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.L1062L(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGATGGCCCTGGTAAGCTGGT	0.587																																						uc002vui.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5						c.(3184-3186)CTG>CTC		diacylglycerol kinase, delta 130kDa isoform 2	Phosphatidylserine(DB00144)						86.0	89.0	88.0					2																	234371381		2203	4300	6503	SO:0001630	splice_region_variant	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234371381G>C	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.3186+1G>C	2.37:g.234371381G>C						DGKD_uc002vuj.1_Silent_p.L1018L|DGKD_uc010fyi.1_RNA	p.L1062L	NM_152879	NP_690618	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	26	3198	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	1062					Q14158|Q6PK55|Q8NG53	Silent	SNP	ENST00000264057.2	37	c.3186G>C	CCDS2504.1																																																																																				PASS	0.587	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648	Silent	7	179	7	179	---	---	---	---
UGT1A10	54575	broad.mit.edu	37	2	234545802	234545802	+	Missense_Mutation	SNP	G	G	A	rs139087628		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:234545802G>A	ENST00000344644.5	+	1	703	c.634G>A	c.(634-636)Gtg>Atg	p.V212M	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.V212M	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	212					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)	p.V212M(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	GAACCACATCGTGCACTTGGA	0.453													-|||	1	0.000199681	0.0008	0.0	5008	,	,		20062	0.0		0.0	False		,,,				2504	0.0					uc002vur.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(634-636)GTG>ATG		UDP glycosyltransferase 1 family, polypeptide		G	MET/VAL,	4,4402	8.1+/-20.4	0,4,2199	204.0	210.0	208.0		634,	-6.8	0.0	2	dbSNP_134	208	0,8600		0,0,4300	no	missense,intron	UGT1A10,UGT1A8	NM_019075.2,NM_019076.4	21,	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	,	212/531,	234545802	4,13002	2203	4300	6503	SO:0001583	missense	54575				flavone metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding	g.chr2:234545802G>A	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.634G>A	2.37:g.234545802G>A	ENSP00000343838:p.Val212Met					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Missense_Mutation_p.V212M	p.V212M	NM_019075	NP_061948	Q9HAW8	UD110_HUMAN		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	680	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	212					O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	ENST00000344644.5	37	c.634G>A	CCDS33403.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.001	-2.955810	0.00050	9.08E-4	0.0	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.60424	0.19;0.19	3.52	-6.82	0.01698	.	.	.	.	.	T	0.33614	0.0869	L	0.33624	1.015	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.14023	0.006;0.01	T	0.22661	-1.0210	9	0.27785	T	0.31	.	0.4839	0.00552	0.3887:0.1999:0.1989:0.2125	.	212;212	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	M	212	ENSP00000343838:V212M;ENSP00000362544:V212M	ENSP00000343838:V212M	V	+	1	0	UGT1A10	234210541	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-7.772000	0.00030	-1.122000	0.02945	-2.016000	0.00434	GTG		PASS	0.453	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		28	466	28	466	---	---	---	---
FARP2	9855	broad.mit.edu	37	2	242371175	242371175	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:242371175C>T	ENST00000264042.3	+	9	1023	c.853C>T	c.(853-855)Cat>Tat	p.H285Y	FARP2_ENST00000373287.4_Missense_Mutation_p.H285Y|FARP2_ENST00000545004.1_Missense_Mutation_p.H285Y	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	285	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H285Y(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TATCAAACTTCATCCAGAGGT	0.313																																						uc002wbi.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(853-855)CAT>TAT		FERM, RhoGEF and pleckstrin domain protein 2							102.0	96.0	98.0					2																	242371175		2203	4300	6503	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242371175C>T	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.853C>T	2.37:g.242371175C>T	ENSP00000264042:p.His285Tyr					FARP2_uc010zoq.1_Missense_Mutation_p.H285Y|FARP2_uc010zor.1_Missense_Mutation_p.H285Y	p.H285Y	NM_014808	NP_055623	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	9	970	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	285			FERM.		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.853C>T	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	c	15.42	2.829417	0.50845	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287	D;D;D	0.87179	-2.22;-2.22;-2.22	4.84	3.97	0.46021	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.058923	0.64402	D	0.000003	D	0.91865	0.7425	M	0.86953	2.85	0.58432	D	0.999999	P;P;P	0.48407	0.886;0.716;0.91	P;B;P	0.53266	0.59;0.381;0.722	D	0.92851	0.6297	10	0.87932	D	0	.	13.2927	0.60280	0.0:0.9225:0.0:0.0775	.	285;285;285	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	Y	285	ENSP00000264042:H285Y;ENSP00000443876:H285Y;ENSP00000362384:H285Y	ENSP00000264042:H285Y	H	+	1	0	FARP2	242019848	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.735000	0.62051	1.170000	0.42753	0.558000	0.71614	CAT		PASS	0.313	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			17	145	17	145	---	---	---	---
SRGAP3	9901	broad.mit.edu	37	3	9057404	9057404	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:9057404G>C	ENST00000383836.3	-	15	2117	c.1690C>G	c.(1690-1692)Ctt>Gtt	p.L564V	SRGAP3-AS1_ENST00000414633.1_RNA|SRGAP3_ENST00000360413.3_Missense_Mutation_p.L540V|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	564	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.L564V(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCGTCCACAAGGGGGTCTTCA	0.468			T	RAF1	pilocytic astrocytoma																																	uc003brf.1				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(4)	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9						c.(1690-1692)CTT>GTT		SLIT-ROBO Rho GTPase activating protein 3							82.0	82.0	82.0					3																	9057404		2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9057404G>C	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.1690C>G	3.37:g.9057404G>C	ENSP00000373347:p.Leu564Val					SRGAP3_uc003brg.1_Missense_Mutation_p.L540V|SRGAP3_uc003bri.1_RNA	p.L564V	NM_014850	NP_055665	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	15	2366	-			564			Rho-GAP.		Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.1690C>G	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195736	0.78902	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.17213	2.29;2.29	5.29	5.29	0.74685	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000001	T	0.32466	0.0830	L	0.52759	1.655	0.58432	D	0.999996	P;B	0.34546	0.456;0.238	P;B	0.49012	0.598;0.437	T	0.03051	-1.1078	10	0.49607	T	0.09	.	18.528	0.90980	0.0:0.0:1.0:0.0	.	540;564	O43295-2;O43295	.;SRGP2_HUMAN	V	564;540	ENSP00000373347:L564V;ENSP00000353587:L540V	ENSP00000353587:L540V	L	-	1	0	SRGAP3	9032404	1.000000	0.71417	0.988000	0.46212	0.982000	0.71751	4.079000	0.57613	2.455000	0.83008	0.655000	0.94253	CTT		PASS	0.468	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			5	113	5	113	---	---	---	---
MTMR14	64419	broad.mit.edu	37	3	9739394	9739394	+	Splice_Site	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:9739394G>A	ENST00000296003.4	+	18	1735		c.e18-1		MTMR14_ENST00000351233.5_Intron|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14						phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)	p.?(1)		breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					CTCTGCCCCAGATCAGTGGAC	0.617																																						uc003brz.2																			1	Unknown(1)		lung(1)	skin(1)	1						c.e18-1		jumpy isoform 2							126.0	128.0	127.0					3																	9739394		1982	4176	6158	SO:0001630	splice_region_variant	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9739394G>A	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.1614-1G>A	3.37:g.9739394G>A						MTMR14_uc003bsa.2_Intron|MTMR14_uc003bsb.2_Intron|MTMR14_uc011ath.1_Splice_Site|MTMR14_uc010hcl.2_Intron|MTMR14_uc003bsc.2_Splice_Site	p.R538_splice	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN			18	1738	+	Medulloblastoma(99;0.227)							Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Splice_Site	SNP	ENST00000296003.4	37	c.1614_splice	CCDS43043.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478267	0.84747	.	.	ENSG00000163719	ENST00000296003	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7013	0.96054	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTMR14	9714394	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.856000	0.75450	2.657000	0.90304	0.655000	0.94253	.		PASS	0.617	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485	Intron	17	151	17	151	---	---	---	---
TTLL3	26140	broad.mit.edu	37	3	9877137	9877137	+	Silent	SNP	G	G	A	rs577870609		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:9877137G>A	ENST00000547186.1	+	13	2499	c.2283G>A	c.(2281-2283)gcG>gcA	p.A761A	TTLL3_ENST00000426895.4_Silent_p.A904A|TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000383827.1_3'UTR|TTLL3_ENST00000397241.1_3'UTR	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	761					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)	p.A761A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TGGATGGGGCGAGGCCGTGTA	0.562													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18178	0.0		0.0	False		,,,				2504	0.0					uc003btg.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)	2						c.(2281-2283)GCG>GCA		tubulin tyrosine ligase-like family, member 3							108.0	116.0	113.0					3																	9877137		1983	4176	6159	SO:0001819	synonymous_variant	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9877137G>A		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.2283G>A	3.37:g.9877137G>A						ARPC4_uc003btc.1_Intron	p.A761A	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN			13	2499	+	Medulloblastoma(99;0.227)		761					Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Silent	SNP	ENST00000547186.1	37	c.2283G>A																																																																																					PASS	0.562	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		5	159	5	159	---	---	---	---
GRIP2	80852	broad.mit.edu	37	3	14547271	14547271	+	RNA	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:14547271G>A	ENST00000273083.3	-	0	2489							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.R810W(1)		endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GTCGTGCCCCGGGCTGCTGCC	0.692																																						uc011avi.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2719-2721)CGG>TGG		glutamate receptor interacting protein 2							21.0	27.0	25.0					3																	14547271		2004	4144	6148			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14547271G>A	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14547271G>A						GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Missense_Mutation_p.R438W	p.R907W	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN			21	2719	-			809					Q8TEH9|Q9H7H3	Missense_Mutation	SNP	ENST00000273083.3	37	c.2719C>T																																																																																					PASS	0.692	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		3	1	3	1	---	---	---	---
SLC25A38	54977	broad.mit.edu	37	3	39431976	39431976	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:39431976G>T	ENST00000273158.4	+	3	631	c.254G>T	c.(253-255)gGc>gTc	p.G85V		NM_017875.2	NP_060345.2			solute carrier family 25, member 38									p.G85V(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGTCTTTTGGGCCTTTGGAAA	0.483																																						uc003cjo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(253-255)GGC>GTC		solute carrier family 25, member 38							225.0	212.0	217.0					3																	39431976		2203	4300	6503	SO:0001583	missense	54977				erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr3:39431976G>T	BC013194	CCDS2685.1	3p22.1	2013-05-22			ENSG00000144659	ENSG00000144659		"""Solute carriers"""	26054	protein-coding gene	gene with protein product		610819				16949250	Standard	NM_017875		Approved	FLJ20551	uc003cjo.2	Q96DW6	OTTHUMG00000131289	ENST00000273158.4:c.254G>T	3.37:g.39431976G>T	ENSP00000273158:p.Gly85Val						p.G85V	NM_017875	NP_060345	Q96DW6	S2538_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	3	655	+			85			Solcar 1.			Missense_Mutation	SNP	ENST00000273158.4	37	c.254G>T	CCDS2685.1	.	.	.	.	.	.	.	.	.	.	g	26.7	4.767421	0.90020	.	.	ENSG00000144659	ENST00000273158;ENST00000431510	D;D	0.83419	-1.67;-1.72	4.99	4.99	0.66335	Mitochondrial carrier domain (2);	0.048354	0.85682	D	0.000000	D	0.93455	0.7912	H	0.95645	3.7	0.80722	D	1	D	0.69078	0.997	D	0.70487	0.969	D	0.95243	0.8353	10	0.72032	D	0.01	-15.2231	15.8373	0.78808	0.0:0.0:1.0:0.0	.	85	Q96DW6	S2538_HUMAN	V	85;81	ENSP00000273158:G85V;ENSP00000394244:G81V	ENSP00000273158:G85V	G	+	2	0	SLC25A38	39406980	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.355000	0.97087	2.334000	0.79466	0.650000	0.86243	GGC		PASS	0.483	SLC25A38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254057.3	NM_017875		5	80	5	80	---	---	---	---
SETD2	29072	broad.mit.edu	37	3	47084181	47084181	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:47084181C>A	ENST00000409792.3	-	17	7150	c.7108G>T	c.(7108-7110)Gtt>Ttt	p.V2370F		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2370					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.V2370F(1)|p.V1867F(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTTGTCACAACCATTTCAGAC	0.418			"""N, F, S, Mis"""		clear cell renal carcinoma																																	uc003cqs.2				Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		2	Substitution - Missense(2)		lung(2)	kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(7108-7110)GTT>TTT		SET domain containing 2							109.0	109.0	109.0					3																	47084181		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47084181C>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.7108G>T	3.37:g.47084181C>A	ENSP00000386759:p.Val2370Phe					SETD2_uc003cqv.2_Missense_Mutation_p.V2437F|SETD2_uc003cqr.2_5'UTR	p.V2370F	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	17	7161	-		Acute lymphoblastic leukemia(5;0.0169)	2370					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.7108G>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029421	0.54790	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	D	0.89485	-2.52	5.84	4.07	0.47477	.	0.000000	0.49916	D	0.000127	D	0.83917	0.5358	L	0.36672	1.1	0.40933	D	0.984406	B;B	0.31227	0.314;0.314	B;B	0.32149	0.141;0.078	T	0.81551	-0.0881	10	0.54805	T	0.06	.	12.7097	0.57082	0.0:0.867:0.0:0.133	.	2370;2370	F2Z317;Q9BYW2	.;SETD2_HUMAN	F	2370	ENSP00000386759:V2370F	ENSP00000386759:V2370F	V	-	1	0	SETD2	47059185	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.874000	0.56101	0.824000	0.34613	-0.137000	0.14449	GTT		PASS	0.418	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		116	29	116	29	---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51246264	51246264	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:51246264C>T	ENST00000266037.9	+	13	1120	c.1097C>T	c.(1096-1098)gCc>gTc	p.A366V		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	366					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.A366V(1)|p.A355V(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AAGTCCAGTGCCAAGTACTCT	0.458																																						uc011bds.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1096-1098)GCC>GTC		dedicator of cytokinesis 3							99.0	104.0	102.0					3																	51246264		2040	4211	6251	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51246264C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1097C>T	3.37:g.51246264C>T	ENSP00000266037:p.Ala366Val						p.A366V	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	13	1120	+			366					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.1097C>T	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181518	0.78677	.	.	ENSG00000088538	ENST00000266037	T	0.05319	3.46	5.72	5.72	0.89469	.	0.142498	0.64402	D	0.000006	T	0.09905	0.0243	L	0.50333	1.59	0.40891	D	0.984079	B	0.26512	0.151	B	0.25405	0.06	T	0.09487	-1.0672	10	0.40728	T	0.16	.	19.0394	0.92992	0.0:1.0:0.0:0.0	.	366	Q8IZD9	DOCK3_HUMAN	V	366	ENSP00000266037:A366V	ENSP00000266037:A366V	A	+	2	0	DOCK3	51221304	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.221000	0.78016	2.878000	0.98634	0.650000	0.86243	GCC		PASS	0.458	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		15	3	15	3	---	---	---	---
ACOX2	8309	broad.mit.edu	37	3	58514545	58514545	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:58514545G>A	ENST00000302819.5	-	9	1422	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	ACOX2_ENST00000459701.2_Silent_p.N363N	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	377					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.N377N(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TGAAGTCTTGGTTCAGAATGG	0.567																																						uc003dkl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1129-1131)AAC>AAT		acyl-Coenzyme A oxidase 2							83.0	81.0	82.0					3																	58514545		2203	4300	6503	SO:0001819	synonymous_variant	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58514545G>A	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1131C>T	3.37:g.58514545G>A							p.N377N	NM_003500	NP_003491	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	9	1306	-			377					A6NF16|B2R8U5	Silent	SNP	ENST00000302819.5	37	c.1131C>T	CCDS33775.1																																																																																				PASS	0.567	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			50	13	50	13	---	---	---	---
FEZF2	55079	broad.mit.edu	37	3	62357936	62357936	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:62357936G>A	ENST00000283268.3	-	2	902	c.608C>T	c.(607-609)gCc>gTc	p.A203V	PTPRG-AS1_ENST00000495542.1_RNA|FEZF2_ENST00000486811.1_Missense_Mutation_p.A203V|PTPRG-AS1_ENST00000490916.1_RNA|FEZF2_ENST00000475839.1_Missense_Mutation_p.A203V	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	203					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.A203V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		AGCAGCCAGGGCGGCGGGGGC	0.657																																					NSCLC(170;1772 2053 12525 15604 23984)	uc003dlh.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(607-609)GCC>GTC		FEZ family zinc finger 2							8.0	11.0	10.0					3																	62357936		2180	4270	6450	SO:0001583	missense	55079				transcription, DNA-dependent	nucleus	zinc ion binding	g.chr3:62357936G>A	AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.608C>T	3.37:g.62357936G>A	ENSP00000283268:p.Ala203Val					FEZF2_uc003dli.2_Missense_Mutation_p.A203V	p.A203V	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)	1	815	-		Lung SC(41;0.0262)	203					A8K349|Q9BZ91|Q9NWB9	Missense_Mutation	SNP	ENST00000283268.3	37	c.608C>T	CCDS2897.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441570	0.43326	.	.	ENSG00000153266	ENST00000486811;ENST00000283268;ENST00000475839	T;T;T	0.07327	3.2;3.2;3.2	5.15	5.15	0.70609	.	0.496380	0.22519	N	0.058993	T	0.07818	0.0196	N	0.22421	0.69	0.28920	N	0.892165	B	0.06786	0.001	B	0.06405	0.002	T	0.13710	-1.0499	10	0.27082	T	0.32	-6.967	18.2083	0.89861	0.0:0.0:1.0:0.0	.	203	Q8TBJ5	FEZF2_HUMAN	V	203	ENSP00000418589:A203V;ENSP00000283268:A203V;ENSP00000418804:A203V	ENSP00000283268:A203V	A	-	2	0	FEZF2	62332976	0.688000	0.27680	0.961000	0.40146	0.865000	0.49528	3.173000	0.50839	2.412000	0.81896	0.555000	0.69702	GCC		PASS	0.657	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	NM_018008		6	2	6	2	---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74414822	74414822	+	Silent	SNP	A	A	G	rs143146733	byFrequency	TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:74414822A>G	ENST00000263665.6	-	8	1005	c.978T>C	c.(976-978)gaT>gaC	p.D326D		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	326	Ig-like C2-type 4.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.D326D(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTATTTCCACATCCTTTATGA	0.428													A|||	7	0.00139776	0.0	0.0	5008	,	,		17253	0.0		0.0	False		,,,				2504	0.0072					uc003dpm.1																			1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.(976-978)GAT>GAC		contactin 3 precursor		A		1,4405	2.1+/-5.4	0,1,2202	169.0	176.0	174.0		978	1.8	0.5	3	dbSNP_134	174	0,8598		0,0,4299	no	coding-synonymous	CNTN3	NM_020872.1		0,1,6501	GG,GA,AA		0.0,0.0227,0.0077		326/1029	74414822	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74414822A>G	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.978T>C	3.37:g.74414822A>G							p.D326D	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	8	1058	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	326			Ig-like C2-type 4.		B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.978T>C	CCDS33790.1																																																																																				PASS	0.428	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		7	315	7	315	---	---	---	---
MINA	84864	broad.mit.edu	37	3	97677949	97677949	+	Nonsense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:97677949G>C	ENST00000333396.7	-	4	1209	c.627C>G	c.(625-627)taC>taG	p.Y209*	MINA_ENST00000394198.2_Nonsense_Mutation_p.Y209*|MINA_ENST00000330299.2_Nonsense_Mutation_p.Y209*|MINA_ENST00000360258.4_Nonsense_Mutation_p.Y209*	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3			MYC induced nuclear antigen									p.Y209*(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						CCTCCACGCTGTACTCTCGTG	0.572																																						uc003drz.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(625-627)TAC>TAG		MYC induced nuclear antigen isoform a							84.0	67.0	73.0					3																	97677949		2203	4300	6503	SO:0001587	stop_gained	84864				ribosome biogenesis	cytoplasm|nucleolus		g.chr3:97677949G>C	AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854			19441	protein-coding gene	gene with protein product		612049				12091391	Standard	NM_001042533		Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.627C>G	3.37:g.97677949G>C	ENSP00000328251:p.Tyr209*					MINA_uc003dsa.1_Nonsense_Mutation_p.Y209*|MINA_uc003dsb.1_Nonsense_Mutation_p.Y209*|MINA_uc003dsc.1_Nonsense_Mutation_p.Y209*|MINA_uc010hpa.1_RNA|MINA_uc010hpb.1_RNA	p.Y209*	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN			4	1133	-			209			JmjC.			Nonsense_Mutation	SNP	ENST00000333396.7	37	c.627C>G	CCDS43114.1	.	.	.	.	.	.	.	.	.	.	G	38	6.928542	0.97940	.	.	ENSG00000170854	ENST00000333396;ENST00000394198;ENST00000360258;ENST00000330299;ENST00000507612	.	.	.	5.71	4.84	0.62591	.	0.125936	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-12.954	12.5265	0.56089	0.1382:0.0:0.8618:0.0	.	.	.	.	X	209;209;209;209;55	.	ENSP00000327424:Y209X	Y	-	3	2	MINA	99160639	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	1.962000	0.40442	1.409000	0.46915	0.655000	0.94253	TAC		PASS	0.572	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359244.3	NM_032778		5	131	5	131	---	---	---	---
OR5H1	26341	broad.mit.edu	37	3	97852476	97852476	+	Nonsense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:97852476C>G	ENST00000354565.2	+	1	935	c.935C>G	c.(934-936)tCa>tGa	p.S312*	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S312*(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GTTAAGGTTTCATACTAATAT	0.299																																						uc011bgt.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)	2						c.(934-936)TCA>TGA		olfactory receptor, family 5, subfamily H,							40.0	44.0	43.0					3																	97852476		2196	4292	6488	SO:0001587	stop_gained	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97852476C>G	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.935C>G	3.37:g.97852476C>G	ENSP00000346575:p.Ser312*						p.S312*	NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN			1	935	+			312			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000354565.2	37	c.935C>G	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277886	0.23307	.	.	ENSG00000231192	ENST00000354565	.	.	.	3.32	3.32	0.38043	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.3241	0.21234	0.0:0.861:0.0:0.139	.	.	.	.	X	312	.	ENSP00000346575:S312X	S	+	2	0	OR5H1	99335166	0.002000	0.14202	0.235000	0.24058	0.034000	0.12701	-0.791000	0.04599	1.689000	0.51079	0.195000	0.17529	TCA		PASS	0.299	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		8	211	8	211	---	---	---	---
SENP7	57337	broad.mit.edu	37	3	101117745	101117745	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:101117745G>C	ENST00000394095.2	-	6	690	c.637C>G	c.(637-639)Caa>Gaa	p.Q213E	SENP7_ENST00000394091.1_Intron|SENP7_ENST00000394094.2_Intron|SENP7_ENST00000358203.3_Intron|SENP7_ENST00000314261.7_Missense_Mutation_p.Q147E|SENP7_ENST00000348610.3_Missense_Mutation_p.Q180E	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	213						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.Q213E(1)|p.Q147E(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTTAGATTTTGATAAGATTCT	0.353																																						uc003dut.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)	5						c.(637-639)CAA>GAA		sentrin/SUMO-specific protease 7 isoform 1							161.0	151.0	154.0					3																	101117745		2203	4300	6503	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101117745G>C		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.637C>G	3.37:g.101117745G>C	ENSP00000377655:p.Gln213Glu					SENP7_uc003duu.2_Intron|SENP7_uc003duv.2_Missense_Mutation_p.Q180E|SENP7_uc003duw.2_Missense_Mutation_p.Q147E|SENP7_uc003dux.2_Intron	p.Q213E	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN			6	748	-			213					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.637C>G	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753964	0.69648	.	.	ENSG00000138468	ENST00000394095;ENST00000314261;ENST00000348610	T;T;T	0.27256	1.94;1.68;1.95	5.42	5.42	0.78866	.	0.314266	0.23682	N	0.045609	T	0.42607	0.1210	M	0.68593	2.085	0.80722	D	1	D;P	0.54601	0.967;0.944	P;P	0.55391	0.775;0.6	T	0.33033	-0.9884	10	0.72032	D	0.01	-10.0062	13.2744	0.60180	0.0:0.0:0.8419:0.1581	.	147;213	Q9BQF6-5;Q9BQF6	.;SENP7_HUMAN	E	213;147;180	ENSP00000377655:Q213E;ENSP00000313624:Q147E;ENSP00000342159:Q180E	ENSP00000313624:Q147E	Q	-	1	0	SENP7	102600435	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.345000	0.59360	2.521000	0.84997	0.655000	0.94253	CAA		PASS	0.353	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		5	374	5	374	---	---	---	---
ZPLD1	131368	broad.mit.edu	37	3	102187820	102187820	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:102187820C>A	ENST00000491959.1	+	15	1656	c.774C>A	c.(772-774)gaC>gaA	p.D258E	ZPLD1_ENST00000306176.1_Missense_Mutation_p.D274E|ZPLD1_ENST00000466937.1_Missense_Mutation_p.D258E			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	258	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)		p.D274E(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GTGACAAGGACCCTCAGACCA	0.438																																						uc003dvs.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(772-774)GAC>GAA		zona pellucida-like domain containing 1							64.0	64.0	64.0					3																	102187820		2203	4300	6503	SO:0001583	missense	131368					integral to membrane		g.chr3:102187820C>A	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.774C>A	3.37:g.102187820C>A	ENSP00000420265:p.Asp258Glu					ZPLD1_uc003dvt.1_Missense_Mutation_p.D274E|ZPLD1_uc011bhg.1_Missense_Mutation_p.D258E	p.D258E	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN			15	1656	+			258			ZP.|Extracellular (Potential).		Q49AS1|Q8WU36	Missense_Mutation	SNP	ENST00000491959.1	37	c.774C>A		.	.	.	.	.	.	.	.	.	.	C	15.65	2.895042	0.52121	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	D;D;D	0.84516	-1.86;-1.86;-1.86	5.47	-2.49	0.06403	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.88183	0.6368	L	0.55990	1.75	0.54753	D	0.999988	D;P	0.89917	1.0;0.906	D;P	0.83275	0.996;0.585	D	0.85646	0.1279	10	0.51188	T	0.08	5.9232	13.4086	0.60929	0.0:0.6865:0.0:0.3135	.	274;258	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	E	258;274;258	ENSP00000420265:D258E;ENSP00000307801:D274E;ENSP00000418253:D258E	ENSP00000307801:D274E	D	+	3	2	ZPLD1	103670510	0.859000	0.29813	0.990000	0.47175	0.931000	0.56810	-0.003000	0.12901	-0.446000	0.07149	-0.605000	0.04089	GAC		PASS	0.438	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		111	96	111	96	---	---	---	---
CFAP44	55779	broad.mit.edu	37	3	113146061	113146061	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:113146061G>A	ENST00000295868.2	-	3	388	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000393845.2_Nonsense_Mutation_p.Q76*|WDR52-AS1_ENST00000473329.1_RNA	NM_018338.3	NP_060808.2												p.Q76*(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TCACCATACTGAAATGAACTC	0.363																																						uc003eae.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(226-228)CAG>TAG		WD repeat domain 52 isoform 2							191.0	170.0	177.0					3																	113146061		2203	4300	6503	SO:0001587	stop_gained	55779							g.chr3:113146061G>A																												ENST00000295868.2:c.226C>T	3.37:g.113146061G>A	ENSP00000295868:p.Gln76*						p.Q76*	NM_018338	NP_060808	Q96MT7	WDR52_HUMAN			3	272	-			76						Nonsense_Mutation	SNP	ENST00000295868.2	37	c.226C>T	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	G	9.502	1.103509	0.20632	.	.	ENSG00000206530	ENST00000393845;ENST00000295868;ENST00000473143	.	.	.	4.3	1.29	0.21616	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	11.8977	0.52665	0.0:0.5032:0.4968:0.0	.	.	.	.	X	76	.	ENSP00000295868:Q76X	Q	-	1	0	WDR52	114628751	0.009000	0.17119	0.003000	0.11579	0.034000	0.12701	1.515000	0.35845	0.268000	0.21939	0.557000	0.71058	CAG		PASS	0.363	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			13	333	13	333	---	---	---	---
IGSF11	152404	broad.mit.edu	37	3	118623503	118623503	+	Missense_Mutation	SNP	A	A	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:118623503A>C	ENST00000393775.2	-	6	1151	c.846T>G	c.(844-846)aaT>aaG	p.N282K	IGSF11_ENST00000491903.1_Missense_Mutation_p.N254K|IGSF11_ENST00000441144.2_Missense_Mutation_p.N257K|IGSF11_ENST00000425327.2_Missense_Mutation_p.N281K|IGSF11_ENST00000489689.1_Missense_Mutation_p.N258K|IGSF11_ENST00000354673.2_Missense_Mutation_p.N281K	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	282					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N282K(1)|p.N281K(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACCTTATTTCATTAGGAATTT	0.308																																						uc003ebw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(844-846)AAT>AAG		immunoglobulin superfamily, member 11 isoform b							76.0	88.0	84.0					3																	118623503		2203	4299	6502	SO:0001583	missense	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118623503A>C	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.846T>G	3.37:g.118623503A>C	ENSP00000377370:p.Asn282Lys					IGSF11_uc011biv.1_Missense_Mutation_p.N254K|IGSF11_uc003ebx.2_Missense_Mutation_p.N258K|IGSF11_uc003eby.2_Missense_Mutation_p.N281K|IGSF11_uc003ebz.2_Missense_Mutation_p.N257K|IGSF11_uc010hqs.2_Missense_Mutation_p.N281K	p.N282K	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN			6	1093	-			282			Cytoplasmic (Potential).		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	c.846T>G	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.046110	0.75846	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	T;T;D;T;D;D	0.89485	-1.19;-1.41;-2.52;-1.19;-2.52;-1.94	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.92054	0.7482	L	0.46819	1.47	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999	D;D;D;D;D	0.87578	0.994;0.998;0.998;0.994;0.994	D	0.91975	0.5590	10	0.48119	T	0.1	.	14.56	0.68128	1.0:0.0:0.0:0.0	.	254;257;281;258;282	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	K	281;282;258;281;257;254	ENSP00000406092:N281K;ENSP00000377370:N282K;ENSP00000420486:N258K;ENSP00000346700:N281K;ENSP00000401240:N257K;ENSP00000417413:N254K	ENSP00000346700:N281K	N	-	3	2	IGSF11	120106193	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.287000	0.51732	2.232000	0.73038	0.533000	0.62120	AAT		PASS	0.308	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			116	402	116	402	---	---	---	---
IQCB1	9657	broad.mit.edu	37	3	121508986	121508986	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:121508986G>A	ENST00000310864.6	-	11	1277	c.1063C>T	c.(1063-1065)Caa>Taa	p.Q355*	IQCB1_ENST00000349820.6_Nonsense_Mutation_p.Q222*	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	355					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)	p.Q355*(1)		NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		CTCTGTCTTTGAAGTTGCAAT	0.398																																						uc010hre.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1063-1065)CAA>TAA		IQ motif containing B1 isoform a							246.0	229.0	235.0					3																	121508986		2203	4300	6503	SO:0001587	stop_gained	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121508986G>A	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1063C>T	3.37:g.121508986G>A	ENSP00000311505:p.Gln355*					IQCB1_uc003eek.2_Nonsense_Mutation_p.Q222*|IQCB1_uc010hrf.1_RNA	p.Q355*	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	11	1278	-			355			Potential.		Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Nonsense_Mutation	SNP	ENST00000310864.6	37	c.1063C>T	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754645	0.89843	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	.	.	.	4.92	3.04	0.35103	.	0.217108	0.48767	D	0.000177	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-3.8352	13.0898	0.59160	0.0:0.3092:0.6908:0.0	.	.	.	.	X	355;222	.	ENSP00000311505:Q355X	Q	-	1	0	IQCB1	122991676	1.000000	0.71417	0.997000	0.53966	0.737000	0.42083	3.935000	0.56560	0.710000	0.31997	0.650000	0.86243	CAA		PASS	0.398	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642		17	900	17	900	---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124149620	124149620	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:124149620G>A	ENST00000240874.3	+	16	2978	c.2821G>A	c.(2821-2823)Gag>Aag	p.E941K	KALRN_ENST00000460856.1_Missense_Mutation_p.E941K|KALRN_ENST00000360013.3_Missense_Mutation_p.E941K	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	941					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E941K(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ACTGGCCATCGAGGTAACACC	0.572																																						uc003ehg.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(2821-2823)GAG>AAG		kalirin, RhoGEF kinase isoform 1							78.0	57.0	64.0					3																	124149620		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124149620G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.2821G>A	3.37:g.124149620G>A	ENSP00000240874:p.Glu941Lys					KALRN_uc010hrv.1_Missense_Mutation_p.E941K|KALRN_uc003ehf.1_Missense_Mutation_p.E941K|KALRN_uc011bjy.1_Missense_Mutation_p.E941K|KALRN_uc003ehh.1_Missense_Mutation_p.E287K	p.E941K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			16	2948	+			941			Spectrin 4.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.2821G>A	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	G	35	5.496131	0.96355	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.50813	0.73;0.73;0.73	4.77	4.77	0.60923	.	0.129548	0.50627	D	0.000113	T	0.65688	0.2715	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.79784	0.946;0.982;0.993;0.909	T	0.66143	-0.5997	10	0.48119	T	0.1	.	17.9729	0.89118	0.0:0.0:1.0:0.0	.	941;287;941;941	C9IZQ6;F2Z3Q6;O60229;O60229-2	.;.;KALRN_HUMAN;.	K	941	ENSP00000418611:E941K;ENSP00000240874:E941K;ENSP00000353109:E941K	ENSP00000240874:E941K	E	+	1	0	KALRN	125632310	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.470000	0.83445	0.655000	0.94253	GAG		PASS	0.572	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		5	116	5	116	---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124390654	124390654	+	Missense_Mutation	SNP	A	A	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:124390654A>G	ENST00000291478.5	+	15	1920	c.1757A>G	c.(1756-1758)aAc>aGc	p.N586S	KALRN_ENST00000428018.2_Missense_Mutation_p.N554S|KALRN_ENST00000360013.3_Missense_Mutation_p.N2283S|KALRN_ENST00000459915.1_Missense_Mutation_p.N375S|KALRN_ENST00000393496.1_Missense_Mutation_p.N624S	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2282					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N586S(1)|p.N2283S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCCAGCTATAACCCACCTCTG	0.582																																						uc003ehg.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(6847-6849)AAC>AGC		kalirin, RhoGEF kinase isoform 1							83.0	94.0	90.0					3																	124390654		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124390654A>G	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.1757A>G	3.37:g.124390654A>G	ENSP00000291478:p.Asn586Ser					KALRN_uc003ehi.2_Missense_Mutation_p.N624S|KALRN_uc003ehk.2_Missense_Mutation_p.N586S|KALRN_uc011bjz.1_Missense_Mutation_p.N375S	p.N2283S	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			48	6975	+			2282					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.6848A>G	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.488|7.488	0.650017|0.650017	0.14516|0.14516	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000393496;ENST00000291478;ENST00000428018;ENST00000459915|ENST00000354186	T;T;T;T;T|.	0.42131|.	0.98;0.98;0.98;0.98;0.98|.	4.39|4.39	2.03|2.03	0.26663|0.26663	.|.	0.259655|.	0.31519|.	N|.	0.007515|.	T|T	0.30759|0.30759	0.0775|0.0775	N|N	0.25647|0.25647	0.755|0.755	0.30857|0.30857	N|N	0.733933|0.733933	B;B;B;B|.	0.32101|.	0.021;0.299;0.356;0.012|.	B;B;B;B|.	0.35182|.	0.012;0.057;0.197;0.007|.	T|T	0.32079|0.32079	-0.9920|-0.9920	10|5	0.07175|.	T|.	0.84|.	.|.	7.8763|7.8763	0.29595|0.29595	0.8284:0.0:0.1716:0.0|0.8284:0.0:0.1716:0.0	.|.	375;586;624;2282|.	E7EUZ8;C9JQ37;O60229-5;O60229|.	.;.;.;KALRN_HUMAN|.	S|A	2283;624;586;554;375|2252	ENSP00000353109:N2283S;ENSP00000377134:N624S;ENSP00000291478:N586S;ENSP00000402419:N554S;ENSP00000420318:N375S|.	ENSP00000291478:N586S|.	N|T	+|+	2|1	0|0	KALRN|KALRN	125873344|125873344	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.978000|0.978000	0.69477|0.69477	2.760000|2.760000	0.47581|0.47581	0.561000|0.561000	0.29186|0.29186	0.377000|0.377000	0.23210|0.23210	AAC|ACC		PASS	0.582	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		6	521	6	521	---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126708574	126708574	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:126708574G>A	ENST00000393409.2	+	1	1138	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	PLXNA1_ENST00000251772.4_Missense_Mutation_p.E357K	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	380	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.E357K(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTACCGTGGTGAGGGCAAGCT	0.632																																						uc003ejg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1069-1071)GAG>AAG		plexin A1							82.0	76.0	78.0					3																	126708574		2203	4299	6502	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126708574G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1138G>A	3.37:g.126708574G>A	ENSP00000377061:p.Glu380Lys						p.E357K	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	1073	+			380			Sema.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000393409.2	37	c.1069G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159647	0.38119	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.10763	2.84;2.84	4.0	4.0	0.46444	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.069764	0.53938	D	0.000048	T	0.20659	0.0497	M	0.72576	2.205	0.40507	D	0.9807	P	0.39520	0.676	P	0.44772	0.46	T	0.05733	-1.0867	10	0.48119	T	0.1	.	16.2802	0.82672	0.0:0.0:1.0:0.0	.	380	Q9UIW2	PLXA1_HUMAN	K	380;357	ENSP00000377061:E380K;ENSP00000251772:E357K	ENSP00000251772:E357K	E	+	1	0	PLXNA1	128191264	1.000000	0.71417	0.893000	0.35052	0.137000	0.21094	6.293000	0.72731	2.078000	0.62432	0.491000	0.48974	GAG		PASS	0.632	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		19	221	19	221	---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126724013	126724013	+	Silent	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:126724013C>T	ENST00000393409.2	+	6	1824	c.1824C>T	c.(1822-1824)agC>agT	p.S608S	PLXNA1_ENST00000251772.4_Silent_p.S585S	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	608					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.S585S(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AATCTGAGAGCGTCCTGGAGG	0.672																																						uc003ejg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1753-1755)AGC>AGT		plexin A1							50.0	40.0	43.0					3																	126724013		2200	4299	6499	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126724013C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1824C>T	3.37:g.126724013C>T							p.S585S	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	6	1759	+			608			Extracellular (Potential).			Silent	SNP	ENST00000393409.2	37	c.1755C>T	CCDS33847.2																																																																																				PASS	0.672	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		13	78	13	78	---	---	---	---
ISY1	57461	broad.mit.edu	37	3	128853006	128853006	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:128853006C>T	ENST00000393295.3	-	9	891	c.574G>A	c.(574-576)Gag>Aag	p.E192K	ISY1_ENST00000393292.3_Missense_Mutation_p.R193K|ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.E192K|ISY1_ENST00000471497.1_Intron|ISY1_ENST00000273541.8_Missense_Mutation_p.E214K	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	192					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)	p.E192K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						GCCTCTCTCTCTGCTTTCCAC	0.478																																						uc003elo.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(574-576)GAG>AAG		ISY1 splicing factor homolog							130.0	129.0	129.0					3																	128853006		1941	4151	6092	SO:0001583	missense	339122				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr3:128853006C>T		CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 33"""	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.574G>A	3.37:g.128853006C>T	ENSP00000376973:p.Glu192Lys					ISY1_uc010hsz.1_Intron|ISY1_uc003elp.1_Missense_Mutation_p.E192K|ISY1_uc010hta.1_Missense_Mutation_p.E214K	p.E192K	NM_020701	NP_065752	Q86YS6	RAB43_HUMAN			9	785	-			Error:Variant_position_missing_in_Q86YS6_after_alignment					Q96IL2|Q9BT05	Missense_Mutation	SNP	ENST00000393295.3	37	c.574G>A	CCDS43149.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.20|18.20	3.570744|3.570744	0.65765|0.65765	.|.	.|.	ENSG00000240682|ENSG00000240682	ENST00000418265;ENST00000393295;ENST00000273541|ENST00000393292	T|.	0.32988|.	1.43|.	5.64|5.64	4.76|4.76	0.60689|0.60689	.|.	0.053131|.	0.85682|.	D|.	0.000000|.	T|T	0.19366|0.19366	0.0465|0.0465	N|N	0.04959|0.04959	-0.14|-0.14	0.09310|0.09310	N|N	0.999995|0.999995	B;B;B|.	0.10296|.	0.003;0.002;0.001|.	B;B;B|.	0.11329|.	0.006;0.005;0.006|.	T|T	0.20107|0.20107	-1.0285|-1.0285	10|5	0.19590|.	T|.	0.45|.	.|.	10.2743|10.2743	0.43501|0.43501	0.0:0.9093:0.0:0.0907|0.0:0.9093:0.0:0.0907	.|.	214;192;192|.	Q9ULR0-2;Q9ULR0;Q9ULR0-1|.	.;ISY1_HUMAN;.|.	K|K	192;192;214|193	ENSP00000273541:E214K|.	ENSP00000273541:E214K|.	E|R	-|-	1|2	0|0	ISY1|ISY1	130335696|130335696	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	5.862000|5.862000	0.69560|0.69560	1.371000|1.371000	0.46172|0.46172	0.585000|0.585000	0.79938|0.79938	GAG|AGA		PASS	0.478	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1	NM_020701		9	348	9	348	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130368158	130368158	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:130368158G>A	ENST00000358511.6	+	32	5516	c.5485G>A	c.(5485-5487)Gaa>Aaa	p.E1829K	COL6A6_ENST00000453409.2_Missense_Mutation_p.E1829K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1829	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.E1829K(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAGAGAAATTGAAACTATTCC	0.527																																						uc010htl.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(5485-5487)GAA>AAA		collagen type VI alpha 6 precursor							26.0	27.0	26.0					3																	130368158		1890	4115	6005	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130368158G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.5485G>A	3.37:g.130368158G>A	ENSP00000351310:p.Glu1829Lys					COL6A6_uc003eni.3_Intron	p.E1829K	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			32	5516	+			1829			VWFA 8.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.5485G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	0.494	-0.874027	0.02570	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.13778	2.56;2.56	5.45	0.893	0.19236	von Willebrand factor, type A (3);	.	.	.	.	T	0.05181	0.0138	N	0.10874	0.06	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.43507	-0.9387	9	0.02654	T	1	.	5.2914	0.15729	0.3058:0.2987:0.3954:0.0	.	1829	A6NMZ7	CO6A6_HUMAN	K	1829	ENSP00000351310:E1829K;ENSP00000399236:E1829K	ENSP00000351310:E1829K	E	+	1	0	COL6A6	131850848	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.175000	0.09825	0.241000	0.21283	0.462000	0.41574	GAA		PASS	0.527	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		6	35	6	35	---	---	---	---
ATP2C1	27032	broad.mit.edu	37	3	130686258	130686258	+	Missense_Mutation	SNP	A	A	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:130686258A>G	ENST00000510168.1	+	16	1853	c.1303A>G	c.(1303-1305)Atg>Gtg	p.M435V	ATP2C1_ENST00000428331.2_Missense_Mutation_p.M435V|ATP2C1_ENST00000504381.1_Missense_Mutation_p.M380V|ATP2C1_ENST00000504948.1_Missense_Mutation_p.M419V|ATP2C1_ENST00000505330.1_Missense_Mutation_p.M419V|ATP2C1_ENST00000508532.1_Missense_Mutation_p.M435V|ATP2C1_ENST00000359644.3_Missense_Mutation_p.M435V|ATP2C1_ENST00000328560.8_Missense_Mutation_p.M435V|ATP2C1_ENST00000513801.1_Missense_Mutation_p.M419V|ATP2C1_ENST00000393221.4_Missense_Mutation_p.M469V|ATP2C1_ENST00000507488.2_Missense_Mutation_p.M419V|ATP2C1_ENST00000422190.2_Missense_Mutation_p.M435V|ATP2C1_ENST00000533801.2_Missense_Mutation_p.M430V			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	435					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.M435V(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGCTCTTGCAATGAAGGTACG	0.398									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	uc003enl.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1303-1305)ATG>GTG		calcium-transporting ATPase 2C1 isoform 1a	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						90.0	86.0	87.0					3																	130686258		2203	4300	6503	SO:0001583	missense	27032	Hailey-Hailey_disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130686258A>G	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.1303A>G	3.37:g.130686258A>G	ENSP00000427461:p.Met435Val					ATP2C1_uc011blg.1_Missense_Mutation_p.M469V|ATP2C1_uc011blh.1_Missense_Mutation_p.M430V|ATP2C1_uc011bli.1_Missense_Mutation_p.M469V|ATP2C1_uc003enk.2_Missense_Mutation_p.M419V|ATP2C1_uc003enm.2_Missense_Mutation_p.M435V|ATP2C1_uc003enn.2_Missense_Mutation_p.M419V|ATP2C1_uc003eno.2_Missense_Mutation_p.M435V|ATP2C1_uc003enp.2_Missense_Mutation_p.M435V|ATP2C1_uc003enq.2_Missense_Mutation_p.M435V|ATP2C1_uc003enr.2_Missense_Mutation_p.M435V|ATP2C1_uc003ens.2_Missense_Mutation_p.M435V|ATP2C1_uc003ent.2_Missense_Mutation_p.M435V|ATP2C1_uc003enu.2_Missense_Mutation_p.M113V	p.M435V	NM_014382	NP_055197	P98194	AT2C1_HUMAN			16	1525	+			435			Cytoplasmic (By similarity).		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	c.1303A>G	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.695434	0.48202	.	.	ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	D;D;D;D;D;D;D;D;D;D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8;-3.8;-3.8;-3.8;-3.8;-3.8;-3.8;-3.8;-3.8;-3.8	5.59	5.59	0.84812	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.92996	0.7771	L	0.35793	1.09	0.80722	D	1	P;P;B;P;B;P;P	0.42871	0.753;0.792;0.082;0.753;0.036;0.753;0.792	B;B;B;B;B;B;B	0.43194	0.288;0.411;0.065;0.288;0.065;0.288;0.411	D	0.92148	0.5726	10	0.30078	T	0.28	.	15.7615	0.78082	1.0:0.0:0.0:0.0	.	469;430;469;435;469;435;435	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.;.;.;.;.;.;AT2C1_HUMAN	V	419;380;419;469;430;435;435;419;419;435;435;435;435;434	ENSP00000423774:M419V;ENSP00000425320:M380V;ENSP00000421326:M419V;ENSP00000376914:M469V;ENSP00000432956:M430V;ENSP00000427461:M435V;ENSP00000424783:M435V;ENSP00000423330:M419V;ENSP00000422872:M419V;ENSP00000329664:M435V;ENSP00000395809:M435V;ENSP00000352665:M435V;ENSP00000402677:M435V	ENSP00000329664:M435V	M	+	1	0	ATP2C1	132168948	1.000000	0.71417	0.973000	0.42090	0.985000	0.73830	8.730000	0.91510	2.131000	0.65755	0.477000	0.44152	ATG		PASS	0.398	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		5	284	5	284	---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132193846	132193846	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:132193846C>G	ENST00000260818.6	+	22	2610	c.2362C>G	c.(2362-2364)Ctt>Gtt	p.L788V		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	788					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.L171V(1)|p.L788V(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GAAAGATACTCTTGAATCTGA	0.368																																						uc003eor.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(2362-2364)CTT>GTT		DnaJ (Hsp40) homolog, subfamily C, member 13							112.0	117.0	115.0					3																	132193846		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132193846C>G	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2362C>G	3.37:g.132193846C>G	ENSP00000260818:p.Leu788Val						p.L788V	NM_015268	NP_056083	O75165	DJC13_HUMAN			22	2427	+			788					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.2362C>G	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085396	0.76642	.	.	ENSG00000138246	ENST00000260818	T	0.37584	1.19	5.59	4.7	0.59300	Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.55386	0.1917	M	0.63843	1.955	0.58432	D	0.999995	D	0.63880	0.993	D	0.76071	0.987	T	0.58098	-0.7696	10	0.72032	D	0.01	.	11.8241	0.52256	0.0:0.857:0.0:0.143	.	788	O75165	DJC13_HUMAN	V	788	ENSP00000260818:L788V	ENSP00000260818:L788V	L	+	1	0	DNAJC13	133676536	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.776000	0.62354	1.348000	0.45733	0.585000	0.79938	CTT		PASS	0.368	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		12	574	12	574	---	---	---	---
COPB2	9276	broad.mit.edu	37	3	139102235	139102235	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:139102235C>G	ENST00000333188.5	-	2	227	c.46G>C	c.(46-48)Gat>Cat	p.D16H	COPB2_ENST00000510491.1_5'UTR|COPB2_ENST00000507777.1_5'UTR	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	16					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.D16H(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TTAACTCGATCAGATCTAGCA	0.368																																						uc003etf.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(46-48)GAT>CAT		coatomer protein complex, subunit beta 2 (beta							112.0	96.0	102.0					3																	139102235		2203	4300	6503	SO:0001583	missense	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139102235C>G	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.46G>C	3.37:g.139102235C>G	ENSP00000329419:p.Asp16His					COPB2_uc011bmv.1_5'UTR|COPB2_uc010hui.2_5'UTR|COPB2_uc011bmw.1_Missense_Mutation_p.D16H|COPB2_uc003etg.2_Missense_Mutation_p.D16H	p.D16H	NM_004766	NP_004757	P35606	COPB2_HUMAN			2	176	-			16			WD 1.		B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	c.46G>C	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032331	0.93575	.	.	ENSG00000184432	ENST00000333188;ENST00000515006	D;D	0.82803	-1.65;-1.65	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.94162	0.8127	H	0.95504	3.68	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.994	D;D;D	0.72338	0.915;0.977;0.964	D	0.95348	0.8444	10	0.87932	D	0	-10.1424	19.7613	0.96319	0.0:1.0:0.0:0.0	.	16;16;16	B4E2C9;D6R997;P35606	.;.;COPB2_HUMAN	H	16	ENSP00000329419:D16H;ENSP00000423271:D16H	ENSP00000329419:D16H	D	-	1	0	COPB2	140584925	1.000000	0.71417	0.987000	0.45799	0.968000	0.65278	7.792000	0.85828	2.661000	0.90470	0.655000	0.94253	GAT		PASS	0.368	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		8	246	8	246	---	---	---	---
CLSTN2	64084	broad.mit.edu	37	3	140122575	140122575	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:140122575G>A	ENST00000458420.3	+	3	527	c.337G>A	c.(337-339)Gac>Aac	p.D113N	AC092988.1_ENST00000580582.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	113	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.D113N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GAGCCCCATTGACTGTGAGTT	0.557										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(337-339)GAC>AAC		calsyntenin 2 precursor							148.0	139.0	142.0					3																	140122575		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140122575G>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.337G>A	3.37:g.140122575G>A	ENSP00000402460:p.Asp113Asn	HNSCC(16;0.037)				CLSTN2_uc003etm.2_Missense_Mutation_p.D113N	p.D113N	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			3	527	+			113			Extracellular (Potential).|Cadherin 1.		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.337G>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697760	0.88830	.	.	ENSG00000158258	ENST00000458420	T	0.57752	0.38	5.64	5.64	0.86602	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.71160	0.3307	M	0.79343	2.45	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.69367	-0.5164	10	0.33940	T	0.23	-20.4084	17.2112	0.86930	0.0:0.0:1.0:0.0	.	113	Q9H4D0	CSTN2_HUMAN	N	113	ENSP00000402460:D113N	ENSP00000402460:D113N	D	+	1	0	CLSTN2	141605265	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.338000	0.96553	2.653000	0.90120	0.655000	0.94253	GAC		PASS	0.557	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		13	540	13	540	---	---	---	---
TRPC1	7220	broad.mit.edu	37	3	142499869	142499869	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:142499869G>T	ENST00000476941.1	+	6	1444	c.958G>T	c.(958-960)Gag>Tag	p.E320*	TRPC1_ENST00000273482.6_Nonsense_Mutation_p.E286*	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	320					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)	p.E286*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TAACCAGAAAGAGGTATGAGG	0.368																																						uc003evc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(958-960)GAG>TAG		transient receptor potential cation channel,							32.0	35.0	34.0					3																	142499869		2198	4300	6498	SO:0001587	stop_gained	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142499869G>T	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.958G>T	3.37:g.142499869G>T	ENSP00000419313:p.Glu320*					TRPC1_uc003evb.2_Nonsense_Mutation_p.E286*	p.E320*	NM_003304	NP_003295	P48995	TRPC1_HUMAN			6	1094	+			320			Cytoplasmic (Potential).		Q14CE4	Nonsense_Mutation	SNP	ENST00000476941.1	37	c.958G>T	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	G	42	9.714584	0.99245	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-24.295	20.04	0.97581	0.0:0.0:1.0:0.0	.	.	.	.	X	320;286	.	ENSP00000273482:E286X	E	+	1	0	TRPC1	143982559	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.733000	0.93635	0.655000	0.94253	GAG		PASS	0.368	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		53	155	53	155	---	---	---	---
AADAC	13	broad.mit.edu	37	3	151545748	151545748	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:151545748C>T	ENST00000232892.7	+	5	1114	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	330					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)	p.R330C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CAACAAATTACGTGGCTTACC	0.448																																					Ovarian(30;839 841 2699 32801 46334)	uc003eze.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(988-990)CGT>TGT		arylacetamide deacetylase							79.0	69.0	73.0					3																	151545748		2203	4300	6503	SO:0001583	missense	13				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	g.chr3:151545748C>T	L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"""arylacetamide deacetylase (esterase)"""			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.988C>T	3.37:g.151545748C>T	ENSP00000232892:p.Arg330Cys						p.R330C	NM_001086	NP_001077	P22760	AAAD_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		5	1078	+		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	330			Lumenal (Potential).		A8K3L3|D3DNJ6|Q8N1A9	Missense_Mutation	SNP	ENST00000232892.7	37	c.988C>T	CCDS33877.1	.	.	.	.	.	.	.	.	.	.	C	9.006	0.981406	0.18812	.	.	ENSG00000114771	ENST00000232892	T	0.12465	2.68	4.69	2.88	0.33553	Alpha/beta hydrolase fold-3 (1);	0.422161	0.25744	N	0.028584	T	0.20170	0.0485	M	0.80746	2.51	0.09310	N	0.999994	B	0.20550	0.046	B	0.31337	0.128	T	0.22941	-1.0202	10	0.72032	D	0.01	-9.0493	7.2826	0.26320	0.2988:0.6228:0.0:0.0784	.	330	P22760	AAAD_HUMAN	C	330	ENSP00000232892:R330C	ENSP00000232892:R330C	R	+	1	0	AADAC	153028438	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	0.248000	0.18198	0.395000	0.25257	0.591000	0.81541	CGT		PASS	0.448	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086		11	375	11	375	---	---	---	---
ARHGEF26	26084	broad.mit.edu	37	3	153905615	153905615	+	Silent	SNP	A	A	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:153905615A>G	ENST00000356448.4	+	7	1913	c.1629A>G	c.(1627-1629)ctA>ctG	p.L543L	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Silent_p.L543L	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	543	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L543L(3)		endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AACGAACACTACAAAAATTGT	0.323																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	uc011bog.1																			3	Substitution - coding silent(3)		lung(3)	large_intestine(1)	1						c.(1627-1629)CTA>CTG		Src homology 3 domain-containing guanine							76.0	69.0	71.0					3																	153905615		1883	4103	5986	SO:0001819	synonymous_variant	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153905615A>G	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.1629A>G	3.37:g.153905615A>G						SGEF_uc011boh.1_Silent_p.L543L	p.L543L	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		7	1840	+			543			DH.		B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Silent	SNP	ENST00000356448.4	37	c.1629A>G	CCDS46938.1																																																																																				PASS	0.323	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		48	42	48	42	---	---	---	---
GPR149	344758	broad.mit.edu	37	3	154055876	154055876	+	Nonsense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:154055876G>C	ENST00000389740.2	-	4	1907	c.1808C>G	c.(1807-1809)tCa>tGa	p.S603*		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	603					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S603*(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGAATCTTCTGAGTTTGGTTC	0.413																																						uc003faa.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)	6						c.(1807-1809)TCA>TGA		G protein-coupled receptor 149							124.0	120.0	121.0					3																	154055876		1851	4096	5947	SO:0001587	stop_gained	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154055876G>C	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1808C>G	3.37:g.154055876G>C	ENSP00000374390:p.Ser603*						p.S603*	NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		4	1908	-			603			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000389740.2	37	c.1808C>G	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	G	37	6.034483	0.97221	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.56	5.56	0.83823	.	0.395292	0.25786	N	0.028307	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-0.3077	14.3745	0.66865	0.0:0.0:0.8521:0.1479	.	.	.	.	X	603	.	ENSP00000374390:S603X	S	-	2	0	GPR149	155538570	1.000000	0.71417	0.414000	0.26521	0.987000	0.75469	5.145000	0.64839	2.615000	0.88500	0.650000	0.86243	TCA		PASS	0.413	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		8	683	8	683	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155203419	155203419	+	Silent	SNP	T	T	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:155203419T>G	ENST00000340059.7	-	22	2723	c.2724A>C	c.(2722-2724)gtA>gtC	p.V908V	PLCH1_ENST00000494598.1_Silent_p.V888V|PLCH1_ENST00000460012.1_Silent_p.V870V|PLCH1_ENST00000414191.1_Silent_p.V870V|PLCH1_ENST00000447496.2_Silent_p.V908V|PLCH1_ENST00000334686.6_Silent_p.V870V|PLCH1-AS2_ENST00000472913.1_RNA	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	908					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.V870V(2)|p.V908V(2)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATCGCTTCCGTACATAATGGG	0.463																																						uc011bok.1																			4	Substitution - coding silent(4)		lung(4)	skin(3)|ovary(1)	4						c.(2722-2724)GTA>GTC		phospholipase C eta 1 isoform a							95.0	92.0	93.0					3																	155203419		2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155203419T>G	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2724A>C	3.37:g.155203419T>G						PLCH1_uc011boj.1_Silent_p.V908V|PLCH1_uc011bol.1_Silent_p.V870V	p.V908V	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		22	3001	-			908					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.2724A>C	CCDS46939.1																																																																																				PASS	0.463	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		56	201	56	201	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155212304	155212304	+	Missense_Mutation	SNP	T	T	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:155212304T>A	ENST00000340059.7	-	15	1860	c.1861A>T	c.(1861-1863)Acc>Tcc	p.T621S	PLCH1_ENST00000494598.1_Missense_Mutation_p.T621S|PLCH1_ENST00000460012.1_Missense_Mutation_p.T603S|PLCH1_ENST00000414191.1_Missense_Mutation_p.T603S|PLCH1_ENST00000447496.2_Missense_Mutation_p.T621S|PLCH1_ENST00000334686.6_Missense_Mutation_p.T603S	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	621	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.T603S(1)|p.T621S(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTCCTGTGGTTCCTGGCAGT	0.368																																						uc011bok.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(1861-1863)ACC>TCC		phospholipase C eta 1 isoform a							118.0	115.0	116.0					3																	155212304		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155212304T>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1861A>T	3.37:g.155212304T>A	ENSP00000345988:p.Thr621Ser					PLCH1_uc011boj.1_Missense_Mutation_p.T621S|PLCH1_uc011bol.1_Missense_Mutation_p.T603S	p.T621S	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		15	2138	-			621			PI-PLC Y-box.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.1861A>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	8.824	0.938284	0.18206	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.63	5.63	0.86233	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.288450	0.37623	N	0.002017	T	0.41213	0.1149	N	0.17723	0.515	0.37234	D	0.905818	B;B;B	0.15473	0.013;0.005;0.0	B;B;B	0.14023	0.006;0.01;0.002	T	0.38222	-0.9671	10	0.02654	T	1	.	10.8008	0.46487	0.1757:0.0:0.0:0.8243	.	603;621;621	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	S	621;603;621;621;603;603	ENSP00000419100:T621S;ENSP00000417502:T603S;ENSP00000402759:T621S;ENSP00000345988:T621S;ENSP00000335469:T603S;ENSP00000412977:T603S	ENSP00000335469:T603S	T	-	1	0	PLCH1	156694998	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.567000	0.53813	2.145000	0.66743	0.533000	0.62120	ACC		PASS	0.368	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		8	334	8	334	---	---	---	---
SI	6476	broad.mit.edu	37	3	164712082	164712082	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:164712082C>A	ENST00000264382.3	-	41	4866	c.4804G>T	c.(4804-4806)Gct>Tct	p.A1602S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1602	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.A1602S(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CCACCATTAGCATGAATTTCA	0.348										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(4804-4806)GCT>TCT		sucrase-isomaltase	Acarbose(DB00284)						118.0	114.0	115.0					3																	164712082		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164712082C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4804G>T	3.37:g.164712082C>A	ENSP00000264382:p.Ala1602Ser	HNSCC(35;0.089)					p.A1602S	NM_001041	NP_001032	P14410	SUIS_HUMAN			41	4866	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1602			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4804G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.343088	0.61073	.	.	ENSG00000090402	ENST00000264382	D	0.91180	-2.8	5.2	4.31	0.51392	Glycoside hydrolase, superfamily (1);	0.567412	0.19343	N	0.116598	D	0.87047	0.6080	L	0.35723	1.085	0.22648	N	0.998895	B	0.19445	0.036	B	0.33121	0.158	T	0.79567	-0.1750	10	0.51188	T	0.08	.	10.5802	0.45250	0.0:0.8485:0.0:0.1515	.	1602	P14410	SUIS_HUMAN	S	1602	ENSP00000264382:A1602S	ENSP00000264382:A1602S	A	-	1	0	SI	166194776	1.000000	0.71417	0.909000	0.35828	0.995000	0.86356	2.836000	0.48183	1.540000	0.49301	0.644000	0.83932	GCT		PASS	0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		73	277	73	277	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164907470	164907470	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:164907470G>C	ENST00000475390.1	-	2	1592	c.1149C>G	c.(1147-1149)atC>atG	p.I383M	SLITRK3_ENST00000241274.3_Missense_Mutation_p.I383M			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	383	LRRNT.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.I383M(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CAAGGTCATTGATGTGCAAAT	0.448										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(1147-1149)ATC>ATG		slit and trk like 3 protein precursor							177.0	179.0	178.0					3																	164907470		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164907470G>C	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1149C>G	3.37:g.164907470G>C	ENSP00000420091:p.Ile383Met	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.I383M	p.I383M	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	1593	-			383			LRRNT.|Extracellular (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.1149C>G	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.003939	0.35320	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.52057	0.68;0.68	6.11	2.89	0.33648	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.38436	N	0.001684	T	0.55369	0.1916	L	0.46157	1.445	0.39604	D	0.969777	D	0.65815	0.995	D	0.75484	0.986	T	0.53627	-0.8412	10	0.40728	T	0.16	-19.6978	7.2932	0.26378	0.2056:0.0:0.6672:0.1272	.	383	O94933	SLIK3_HUMAN	M	383	ENSP00000420091:I383M;ENSP00000241274:I383M	ENSP00000241274:I383M	I	-	3	3	SLITRK3	166390164	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.373000	0.44266	0.885000	0.36088	0.655000	0.94253	ATC		PASS	0.448	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		7	620	7	620	---	---	---	---
GOLIM4	27333	broad.mit.edu	37	3	167750308	167750308	+	Splice_Site	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:167750308C>T	ENST00000470487.1	-	9	1865	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	GOLIM4_ENST00000309027.4_Splice_Site_p.E364E	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	392	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E392E(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GACTTCATACCTCAGCACGCG	0.473																																						uc003ffe.2																			1	Substitution - coding silent(1)		lung(1)	breast(4)|skin(1)	5						c.(1174-1176)GAG>GAA		golgi integral membrane protein 4							212.0	182.0	192.0					3																	167750308		2203	4300	6503	SO:0001630	splice_region_variant	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167750308C>T	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1176+1G>A	3.37:g.167750308C>T						GOLIM4_uc011bpe.1_Silent_p.E392E|GOLIM4_uc011bpf.1_Silent_p.E364E|GOLIM4_uc011bpg.1_Silent_p.E364E	p.E392E	NM_014498	NP_055313	O00461	GOLI4_HUMAN			9	1520	-			392			Glu-rich.|Lumenal (Potential).			Silent	SNP	ENST00000470487.1	37	c.1176G>A	CCDS3204.1																																																																																				PASS	0.473	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2		Silent	41	823	41	823	---	---	---	---
ACTRT3	84517	broad.mit.edu	37	3	169482713	169482713	+	IGR	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:169482713C>A	ENST00000330368.2	-	0	2005				TERC_ENST00000602385.1_lincRNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)											AGGCGGCAGGCCGAGGCTTTT	0.612																																						uc003ffr.1																			0					0								Homo sapiens cDNA clone IMAGE:40002477.							20.0	23.0	22.0					3																	169482713		876	1991	2867	SO:0001628	intergenic_variant	7012	Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic						g.chr3:169482713C>A	AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9			3.37:g.169482713C>A								NR_001566						1		-								Q96IS0|Q96NJ0	RNA	SNP	ENST00000330368.2	37	c.136G>T	CCDS3206.1																																																																																				PASS	0.612	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467797.1	NM_032487		5	66	5	66	---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170843937	170843937	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:170843937G>A	ENST00000436636.2	-	17	2121	c.1777C>T	c.(1777-1779)Cca>Tca	p.P593S	TNIK_ENST00000470834.1_Missense_Mutation_p.P564S|TNIK_ENST00000341852.6_Missense_Mutation_p.P509S|TNIK_ENST00000357327.5_Missense_Mutation_p.P564S|TNIK_ENST00000460047.1_Missense_Mutation_p.P538S|TNIK_ENST00000488470.1_Missense_Mutation_p.P538S|TNIK_ENST00000369326.5_Missense_Mutation_p.P564S|TNIK_ENST00000475336.1_Missense_Mutation_p.P509S|TNIK_ENST00000284483.8_Missense_Mutation_p.P593S|TNIK_ENST00000538048.1_Missense_Mutation_p.P538S	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	593	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.P593S(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ACCAGATGTGGGATCTAAGCA	0.468																																						uc003fhh.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)	5						c.(1777-1779)CCA>TCA		TRAF2 and NCK interacting kinase isoform 1							57.0	59.0	58.0					3																	170843937		1865	4114	5979	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170843937G>A	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1777C>T	3.37:g.170843937G>A	ENSP00000399511:p.Pro593Ser					TNIK_uc003fhi.2_Missense_Mutation_p.P538S|TNIK_uc003fhj.2_Missense_Mutation_p.P564S|TNIK_uc003fhk.2_Missense_Mutation_p.P593S|TNIK_uc003fhl.2_Missense_Mutation_p.P509S|TNIK_uc003fhm.2_Missense_Mutation_p.P538S|TNIK_uc003fhn.2_Missense_Mutation_p.P564S|TNIK_uc003fho.2_Missense_Mutation_p.P509S	p.P593S	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		17	2122	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		593			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.1777C>T	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110823	0.37242	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.72282	-0.58;-0.58;-0.61;-0.64;-0.59;-0.63;-0.61;-0.63;-0.63;-0.61	5.77	5.77	0.91146	.	0.118422	0.64402	N	0.000018	T	0.62245	0.2412	N	0.22421	0.69	0.48901	D	0.999724	P;B;P;P;B;B;P;B	0.36909	0.573;0.02;0.573;0.573;0.02;0.02;0.573;0.012	B;B;B;B;B;B;B;B	0.38378	0.272;0.054;0.272;0.272;0.054;0.054;0.272;0.024	T	0.58255	-0.7668	10	0.27082	T	0.32	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	509;564;538;509;593;564;538;593	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	S	593;564;538;509;593;509;564;538;538;564	ENSP00000399511:P593S;ENSP00000358332:P564S;ENSP00000443278:P538S;ENSP00000345352:P509S;ENSP00000284483:P593S;ENSP00000418156:P509S;ENSP00000349880:P564S;ENSP00000418916:P538S;ENSP00000418378:P538S;ENSP00000419990:P564S	ENSP00000284483:P593S	P	-	1	0	TNIK	172326631	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.442000	0.73443	2.885000	0.99019	0.655000	0.94253	CCA		PASS	0.468	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		53	200	53	200	---	---	---	---
NAALADL2	254827	broad.mit.edu	37	3	175184923	175184923	+	Missense_Mutation	SNP	C	C	T	rs372321787		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:175184923C>T	ENST00000454872.1	+	8	1612	c.1484C>T	c.(1483-1485)tCt>tTt	p.S495F	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	495						integral component of membrane (GO:0016021)		p.S495F(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GTTTTCTGTTCTTGGGGAGGA	0.403																																						uc003fit.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1483-1485)TCT>TTT		N-acetylated alpha-linked acidic dipeptidase 2							83.0	81.0	81.0					3																	175184923		1891	4114	6005	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175184923C>T		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1484C>T	3.37:g.175184923C>T	ENSP00000404705:p.Ser495Phe					NAALADL2_uc003fiu.1_Missense_Mutation_p.S488F|NAALADL2_uc010hwy.1_Missense_Mutation_p.S269F|NAALADL2_uc010hwz.1_Missense_Mutation_p.S89F	p.S495F	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	8	1571	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	495			Extracellular (Potential).		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.1484C>T	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335122	0.81801	.	.	ENSG00000177694	ENST00000454872	T	0.38560	1.13	5.58	5.58	0.84498	Peptidase M28 (1);	0.000000	0.64402	D	0.000001	T	0.71409	0.3336	M	0.86651	2.83	0.48975	D	0.999732	D	0.89917	1.0	D	0.91635	0.999	T	0.76231	-0.3035	10	0.87932	D	0	-6.3777	19.5654	0.95390	0.0:1.0:0.0:0.0	.	495	Q58DX5	NADL2_HUMAN	F	495	ENSP00000404705:S495F	ENSP00000404705:S495F	S	+	2	0	NAALADL2	176667617	1.000000	0.71417	0.986000	0.45419	0.862000	0.49288	6.650000	0.74368	2.641000	0.89580	0.585000	0.79938	TCT		PASS	0.403	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		34	271	34	271	---	---	---	---
PEX5L	51555	broad.mit.edu	37	3	179527318	179527318	+	Silent	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:179527318C>T	ENST00000467460.1	-	12	1623	c.1293G>A	c.(1291-1293)gtG>gtA	p.V431V	PEX5L_ENST00000472994.1_Silent_p.V372V|PEX5L_ENST00000476138.1_Silent_p.V388V|PEX5L_ENST00000464614.1_Silent_p.V323V|PEX5L_ENST00000468741.1_Silent_p.V239V|PEX5L_ENST00000392649.3_Silent_p.V323V|PEX5L_ENST00000485199.1_Silent_p.V396V|PEX5L_ENST00000263962.8_Silent_p.V429V|PEX5L_ENST00000465751.1_Silent_p.V407V|PEX5L_ENST00000467440.2_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	431					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)	p.V431V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TCTTGCTTTTCACAAGGTATT	0.468																																						uc003fki.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(1291-1293)GTG>GTA		peroxisomal biogenesis factor 5-like							162.0	147.0	152.0					3																	179527318		2203	4300	6503	SO:0001819	synonymous_variant	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179527318C>T	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1293G>A	3.37:g.179527318C>T						PEX5L_uc011bqd.1_Silent_p.V388V|PEX5L_uc011bqe.1_Silent_p.V239V|PEX5L_uc011bqf.1_Silent_p.V323V|PEX5L_uc003fkj.1_Silent_p.V396V|PEX5L_uc010hxd.1_Silent_p.V429V|PEX5L_uc011bqg.1_Silent_p.V407V|PEX5L_uc011bqh.1_Silent_p.V372V	p.V431V	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		12	1423	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		431					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Silent	SNP	ENST00000467460.1	37	c.1293G>A	CCDS3236.1																																																																																				PASS	0.468	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		21	530	21	530	---	---	---	---
EPHB3	2049	broad.mit.edu	37	3	184294688	184294688	+	Silent	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:184294688C>T	ENST00000330394.2	+	5	1523	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	357	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)	p.L357L(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CACTGATCCTCGAGTGGAGTG	0.597																																						uc003foz.2																			1	Substitution - coding silent(1)		lung(1)	lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11						c.(1069-1071)CTC>CTT		ephrin receptor EphB3 precursor							97.0	94.0	95.0					3																	184294688		2203	4300	6503	SO:0001819	synonymous_variant	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184294688C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1071C>T	3.37:g.184294688C>T							p.L357L	NM_004443	NP_004434	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		5	1508	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		357			Fibronectin type-III 1.|Extracellular (Potential).		Q7Z740	Silent	SNP	ENST00000330394.2	37	c.1071C>T	CCDS3268.1																																																																																				PASS	0.597	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		12	504	12	504	---	---	---	---
VPS8	23355	broad.mit.edu	37	3	184603931	184603931	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:184603931C>A	ENST00000437079.3	+	22	1939	c.1768C>A	c.(1768-1770)Ctg>Atg	p.L590M	VPS8_ENST00000446204.2_Intron|VPS8_ENST00000287546.4_Missense_Mutation_p.L590M|VPS8_ENST00000436792.2_Missense_Mutation_p.L588M	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	590							zinc ion binding (GO:0008270)	p.L590M(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TTACTGCCTTCTGCTGCAGCG	0.433																																						uc003fpb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1762-1764)CTG>ATG		vacuolar protein sorting 8 homolog isoform b							199.0	196.0	197.0					3																	184603931		1980	4157	6137	SO:0001583	missense	23355						zinc ion binding	g.chr3:184603931C>A	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.1768C>A	3.37:g.184603931C>A	ENSP00000397879:p.Leu590Met					VPS8_uc010hyd.1_Intron|VPS8_uc010hye.1_Missense_Mutation_p.L17M	p.L588M	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		21	1933	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		590					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.1762C>A	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932286	0.52866	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792	T;T;T	0.17854	2.25;2.25;2.25	5.83	5.83	0.93111	Quinonprotein alcohol dehydrogenase-like (1);	0.072490	0.56097	D	0.000025	T	0.19725	0.0474	L	0.47716	1.5	0.52501	D	0.999953	B;B	0.27068	0.104;0.167	B;B	0.31101	0.058;0.124	T	0.01492	-1.1341	10	0.44086	T	0.13	-18.262	15.2752	0.73737	0.0:0.9313:0.0:0.0687	.	590;588	Q8N3P4;Q8N3P4-3	VPS8_HUMAN;.	M	590;590;588	ENSP00000287546:L590M;ENSP00000397879:L590M;ENSP00000404704:L588M	ENSP00000287546:L590M	L	+	1	2	VPS8	186086625	0.963000	0.33076	1.000000	0.80357	0.980000	0.70556	0.417000	0.21214	2.756000	0.94617	0.655000	0.94253	CTG		PASS	0.433	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		9	68	9	68	---	---	---	---
KNG1	3827	broad.mit.edu	37	3	186435504	186435504	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:186435504G>T	ENST00000265023.4	+	1	385	c.173G>T	c.(172-174)cGc>cTc	p.R58L	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.R58L|KNG1_ENST00000447445.1_Missense_Mutation_p.R58L	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	58	Cystatin kininogen-type 1. {ECO:0000255|PROSITE-ProRule:PRU00979}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.R58L(2)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		GTATTGTACCGCATAACTGAA	0.403																																						uc011bsa.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(172-174)CGC>CTC		kininogen 1 isoform 1	Ouabain(DB01092)						89.0	90.0	89.0					3																	186435504		2202	4298	6500	SO:0001583	missense	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186435504G>T		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.173G>T	3.37:g.186435504G>T	ENSP00000265023:p.Arg58Leu					KNG1_uc003fqr.2_Missense_Mutation_p.R58L	p.R58L	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	1	385	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		58			Cystatin 1.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	c.173G>T	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.005383	0.54254	.	.	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000447445;ENST00000432028	T;T;T	0.28666	1.6;1.6;1.6	5.22	5.22	0.72569	Proteinase inhibitor I25, cystatin (2);	0.180388	0.28006	N	0.016962	T	0.54838	0.1883	M	0.77820	2.39	0.39248	D	0.963985	D;D	0.59767	0.982;0.986	D;P	0.64877	0.93;0.853	T	0.61357	-0.7079	10	0.72032	D	0.01	-17.2422	14.6598	0.68861	0.0:0.0:1.0:0.0	.	58;58	P01042;P01042-2	KNG1_HUMAN;.	L	58;58;58;46	ENSP00000287611:R58L;ENSP00000265023:R58L;ENSP00000396025:R58L	ENSP00000265023:R58L	R	+	2	0	KNG1	187918198	0.928000	0.31464	0.947000	0.38551	0.130000	0.20726	1.351000	0.34022	2.614000	0.88457	0.555000	0.69702	CGC		PASS	0.403	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		47	201	47	201	---	---	---	---
FGF12	2257	broad.mit.edu	37	3	192078314	192078314	+	Silent	SNP	T	T	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:192078314T>C	ENST00000454309.2	-	2	1038	c.213A>G	c.(211-213)aaA>aaG	p.K71K	FGF12_ENST00000264730.3_Silent_p.K9K|FGF12_ENST00000450716.1_Silent_p.K9K|FGF12_ENST00000445105.2_Silent_p.K9K|FGF12_ENST00000430714.1_Intron	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	71					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)	p.K71K(1)		endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TCACAATCCCTTTGAGCTGGG	0.393																																						uc003fsx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)|lung(1)|pancreas(1)	4						c.(211-213)AAA>AAG		fibroblast growth factor 12 isoform 1							114.0	108.0	110.0					3																	192078314		2203	4300	6503	SO:0001819	synonymous_variant	2257				cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	g.chr3:192078314T>C	U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"""fibroblast growth factor 12B"", ""fibroblast growth factor homologous factor 1"", ""myocyte-activating factor"", ""fibroblast growth factor FGF-12b"""	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.213A>G	3.37:g.192078314T>C						FGF12_uc003fsy.2_Silent_p.K9K	p.K71K	NM_021032	NP_066360	P61328	FGF12_HUMAN	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)	2	1039	-	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	71					B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Silent	SNP	ENST00000454309.2	37	c.213A>G	CCDS3301.1																																																																																				PASS	0.393	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	NM_021032		58	257	58	257	---	---	---	---
GP5	2814	broad.mit.edu	37	3	194118872	194118872	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:194118872C>A	ENST00000401815.1	-	1	211	c.140G>T	c.(139-141)gGc>gTc	p.G47V	GP5_ENST00000323007.3_Missense_Mutation_p.G47V			P40197	GPV_HUMAN	glycoprotein V (platelet)	47	LRRNT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.G47V(2)		breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GGTGGGCAGGCCTAGCGCGGA	0.697																																						uc003ftv.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|breast(1)	3						c.(139-141)GGC>GTC		glycoprotein V (platelet) precursor							37.0	38.0	37.0					3																	194118872		2198	4288	6486	SO:0001583	missense	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194118872C>A	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.140G>T	3.37:g.194118872C>A	ENSP00000383931:p.Gly47Val						p.G47V	NM_004488	NP_004479	P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	2	171	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	47			LRRNT.|Extracellular (Potential).		D1MER9	Missense_Mutation	SNP	ENST00000401815.1	37	c.140G>T	CCDS3307.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686121	0.29962	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	D;D	0.90197	-2.63;-2.63	4.72	1.84	0.25277	Leucine-rich repeat-containing N-terminal (1);	0.904882	0.09119	N	0.845949	D	0.82531	0.5057	L	0.27053	0.805	0.20307	N	0.999913	P	0.48764	0.915	B	0.44315	0.446	T	0.72786	-0.4188	10	0.33940	T	0.23	.	1.1668	0.01817	0.2711:0.3842:0.1325:0.2122	.	47	P40197	GPV_HUMAN	V	47	ENSP00000383931:G47V;ENSP00000319286:G47V	ENSP00000319286:G47V	G	-	2	0	GP5	195600161	0.000000	0.05858	0.024000	0.17045	0.212000	0.24457	0.061000	0.14366	0.623000	0.30267	0.561000	0.74099	GGC		PASS	0.697	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		155	50	155	50	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195474071	195474071	+	Silent	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:195474071C>A	ENST00000346145.4	-	24	3546	c.3507G>T	c.(3505-3507)ctG>ctT	p.L1169L	MUC4_ENST00000463781.3_Silent_p.L5405L|MUC4_ENST00000349607.4_Silent_p.L1118L|MUC4_ENST00000475231.1_Silent_p.L5353L	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2162	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.L5405L(1)|p.L1169L(1)|p.L5277L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CAGCTGAGTTCAGGAAATAGG	0.602																																						uc011bto.1																			3	Substitution - coding silent(3)		lung(3)		0						c.(15829-15831)CTG>CTT		mucin 4 isoform a							75.0	83.0	80.0					3																	195474071		2203	4300	6503	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195474071C>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.3507G>T	3.37:g.195474071C>A						MUC4_uc010hzq.2_Silent_p.L262L|MUC4_uc003fuz.2_Silent_p.L1003L|MUC4_uc003fva.2_Silent_p.L885L|MUC4_uc003fvb.2_Silent_p.L921L|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Silent_p.L921L|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Silent_p.L885L|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.L969L|MUC4_uc011bti.1_Silent_p.L969L|MUC4_uc011btj.1_Silent_p.L1146L|MUC4_uc011btk.1_Silent_p.L885L|MUC4_uc011btl.1_Silent_p.L914L|MUC4_uc011btm.1_Silent_p.L1094L|MUC4_uc011btn.1_Silent_p.L885L|MUC4_uc003fvo.2_Silent_p.L1169L|MUC4_uc003fvp.2_Silent_p.L1118L	p.L5277L	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	26	16291	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	2162					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000346145.4	37	c.15831G>T	CCDS3310.1																																																																																				PASS	0.602	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		26	334	26	334	---	---	---	---
PIGZ	80235	broad.mit.edu	37	3	196674967	196674967	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr3:196674967G>A	ENST00000412723.1	-	3	947	c.801C>T	c.(799-801)ctC>ctT	p.L267L	PIGZ_ENST00000443835.1_Intron	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	267					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)	p.L267L(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		CCGCTGCTGTGAGGGCTGCCC	0.607																																						uc003fxh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(799-801)CTC>CTT		phosphatidylinositol glycan anchor biosynthesis,							57.0	64.0	62.0					3																	196674967		2203	4300	6503	SO:0001819	synonymous_variant	80235				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr3:196674967G>A	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	30596	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 4"", ""dol-P-Man dependent GPI mannosyltransferase"""	611671	"""phosphatidylinositol glycan, class Z"""			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.801C>T	3.37:g.196674967G>A							p.L267L	NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)	3	948	-	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		267			Helical; (Potential).		Q9H9G6	Silent	SNP	ENST00000412723.1	37	c.801C>T	CCDS3324.1																																																																																				PASS	0.607	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		9	184	9	184	---	---	---	---
ZNF595	152687	broad.mit.edu	37	4	59405	59405	+	Missense_Mutation	SNP	A	A	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr4:59405A>G	ENST00000509152.2	+	2	271	c.86A>G	c.(85-87)tAt>tGt	p.Y29C	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.Y29C			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	29	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.Y29C(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		CAGAATTTGTATAGAGATGTG	0.413																																						uc003fzv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(85-87)TAT>TGT		zinc finger protein 595							374.0	408.0	396.0					4																	59405		2203	4300	6503	SO:0001583	missense	152687				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr4:59405A>G	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.86A>G	4.37:g.59405A>G	ENSP00000434858:p.Tyr29Cys					ZNF595_uc003fzu.1_RNA|ZNF718_uc003fzt.3_Missense_Mutation_p.Y29C|ZNF595_uc010iay.1_RNA|ZNF595_uc011bus.1_5'UTR|ZNF595_uc011but.1_Intron	p.Y29C	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	2	242	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	29						Missense_Mutation	SNP	ENST00000509152.2	37	c.86A>G		.	.	.	.	.	.	.	.	.	.	A	12.31	1.898538	0.33535	.	.	ENSG00000197701	ENST00000509152;ENST00000526473	T;T	0.07021	3.23;3.23	1.26	1.26	0.21427	Krueppel-associated box (8);	.	.	.	.	T	0.22003	0.0530	.	.	.	0.24711	N	0.993207	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.979	T	0.04347	-1.0958	8	0.72032	D	0.01	.	6.2624	0.20907	1.0:0.0:0.0:0.0	.	29;29	Q8IYB9;Q3SXZ3	ZN595_HUMAN;ZN718_HUMAN	C	29	ENSP00000434858:Y29C;ENSP00000437878:Y29C	ENSP00000434858:Y29C	Y	+	2	0	ZNF595	49405	0.642000	0.27260	0.027000	0.17364	0.013000	0.08279	2.969000	0.49232	0.549000	0.28973	0.397000	0.26171	TAT		PASS	0.413	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524		61	698	61	698	---	---	---	---
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr4:1803568C>G	ENST00000260795.2	+	6	848	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000340107.4_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). {ECO:0000269|PubMed:10360402, ECO:0000269|PubMed:10471491, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:8589699, ECO:0000269|PubMed:8845844}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	ACAGAGCGCTCCCCGCACCGG	0.736		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	Mis|T	fibroblast growth factor receptor 3	yes	Hypochondroplasia|Thanatophoric dysplasia	"""L, E"""	IGH@|ETV6		bladder|MM|T-cell lymphoma		1205	Substitution - Missense(1204)|Deletion - In frame(1)	p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1)	urinary_tract(1168)|skin(27)|cervix(5)|lung(4)|upper_aerodigestive_tract(1)	urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600	GRCh37	CM950470	FGFR3	M	rs121913483	c.(745-747)TCC>TGC		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						13.0	16.0	15.0					4																	1803568		2180	4267	6447	SO:0001583	missense	2261	Muenke_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1803568C>G	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.746C>G	4.37:g.1803568C>G	ENSP00000260795:p.Ser249Cys					FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C	p.S249C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		7	1002	+		Breast(71;0.212)|all_epithelial(65;0.241)	249		S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).	Extracellular (Potential).		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.746C>G	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	18.75	3.690127	0.68271	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904;ENST00000507588	D;T;T;T;T;T;T	0.82081	-1.57;-1.35;-1.33;-1.33;-1.33;-1.33;-1.32	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	M	0.92412	3.305	0.30597	A	0.239052	D;D;D;D;D;D	0.89917	0.998;0.997;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.80764	0.906;0.978;0.983;0.994;0.968;0.993	D	0.94822	0.7988	9	0.72032	D	0.01	.	16.2883	0.82736	0.0:1.0:0.0:0.0	.	212;249;249;249;249;249	Q8NI15;P22607-2;P22607-4;P22607-3;P22607;F8W9L4	.;.;.;.;FGFR3_HUMAN;.	C	249;249;249;249;249;249;69	ENSP00000420533:S249C;ENSP00000339824:S249C;ENSP00000414914:S249C;ENSP00000412903:S249C;ENSP00000260795:S249C;ENSP00000231803:S249C;ENSP00000427289:S69C	ENSP00000260795:S249C	S	+	2	0	FGFR3	1773366	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.424000	0.80242	1.903000	0.55091	0.436000	0.28706	TCC		PASS	0.736	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		3	4	3	4	---	---	---	---
CCDC96	257236	broad.mit.edu	37	4	7043300	7043300	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr4:7043300C>G	ENST00000310085.4	-	1	1428	c.1366G>C	c.(1366-1368)Gag>Cag	p.E456Q	TADA2B_ENST00000310074.7_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000512388.1_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	456								p.E456Q(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CACGCGTTCTCCATGTCCATG	0.522																																						uc003gjv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1366-1368)GAG>CAG		coiled-coil domain containing 96							276.0	269.0	271.0					4																	7043300		2203	4300	6503	SO:0001583	missense	257236							g.chr4:7043300C>G	AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.1366G>C	4.37:g.7043300C>G	ENSP00000309285:p.Glu456Gln					TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank	p.E456Q	NM_153376	NP_699207	Q2M329	CCD96_HUMAN			1	1429	-			456					Q8N2I7	Missense_Mutation	SNP	ENST00000310085.4	37	c.1366G>C	CCDS3395.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358111	0.24598	.	.	ENSG00000173013	ENST00000310085	T	0.57752	0.38	3.55	1.77	0.24775	.	0.224012	0.29253	N	0.012699	T	0.66848	0.2831	M	0.79693	2.465	0.37516	D	0.917357	D	0.76494	0.999	D	0.75020	0.985	T	0.65668	-0.6112	10	0.30078	T	0.28	-13.7048	7.7994	0.29166	0.0:0.742:0.164:0.094	.	456	Q2M329	CCD96_HUMAN	Q	456	ENSP00000309285:E456Q	ENSP00000309285:E456Q	E	-	1	0	CCDC96	7094201	0.975000	0.34042	0.016000	0.15963	0.122000	0.20287	2.373000	0.44266	0.200000	0.20447	0.462000	0.41574	GAG		PASS	0.522	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376		329	75	329	75	---	---	---	---
GPR125	166647	broad.mit.edu	37	4	22390389	22390389	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr4:22390389C>T	ENST00000334304.5	-	19	3174	c.2905G>A	c.(2905-2907)Gaa>Aaa	p.E969K	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	969					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.E969K(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TGATTTATTTCGCCATTTTCA	0.438																																						uc003gqm.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2905-2907)GAA>AAA		G protein-coupled receptor 125 precursor							94.0	94.0	94.0					4																	22390389		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390389C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2905G>A	4.37:g.22390389C>T	ENSP00000334952:p.Glu969Lys					GPR125_uc010ieo.1_Missense_Mutation_p.E825K|GPR125_uc003gql.1_Missense_Mutation_p.E96K	p.E969K	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN			19	3170	-		Breast(46;0.198)	969			Cytoplasmic (Potential).		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.2905G>A	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	7.267	0.606337	0.14002	.	.	ENSG00000152990	ENST00000334304	T	0.52526	0.66	5.84	5.84	0.93424	GPCR, family 2-like (1);	0.258007	0.44483	D	0.000442	T	0.43875	0.1267	L	0.51422	1.61	0.80722	D	1	P;D	0.57571	0.473;0.98	B;P	0.47044	0.14;0.535	T	0.40021	-0.9585	10	0.02654	T	1	-10.2902	14.3082	0.66397	0.0:0.9292:0.0:0.0708	.	826;969	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	K	969	ENSP00000334952:E969K	ENSP00000334952:E969K	E	-	1	0	GPR125	21999487	0.874000	0.30092	0.165000	0.22776	0.011000	0.07611	2.487000	0.45268	2.751000	0.94390	0.650000	0.86243	GAA		PASS	0.438	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			105	19	105	19	---	---	---	---
GABRA4	2557	broad.mit.edu	37	4	46930618	46930618	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr4:46930618G>T	ENST00000264318.3	-	9	2271	c.1289C>A	c.(1288-1290)gCt>gAt	p.A430D		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	430					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.A430D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGGACTGGAAGCTAAGTAAGA	0.453																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(1288-1290)GCT>GAT		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						122.0	114.0	117.0					4																	46930618		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930618G>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1289C>A	4.37:g.46930618G>T	ENSP00000264318:p.Ala430Asp						p.A430D	NM_000809	NP_000800	P48169	GBRA4_HUMAN			9	1428	-			430			Cytoplasmic (Probable).		Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1289C>A	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709407	0.89018	.	.	ENSG00000109158	ENST00000264318	D	0.85773	-2.03	5.71	5.71	0.89125	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.375450	0.04391	N	0.362449	D	0.86719	0.6000	L	0.40543	1.245	0.47441	D	0.999427	P	0.50369	0.934	P	0.49637	0.617	T	0.73427	-0.3986	10	0.15952	T	0.53	.	17.0117	0.86408	0.0:0.0:1.0:0.0	.	430	P48169	GBRA4_HUMAN	D	430	ENSP00000264318:A430D	ENSP00000264318:A430D	A	-	2	0	GABRA4	46625375	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.298000	0.43602	2.706000	0.92434	0.650000	0.86243	GCT		PASS	0.453	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			74	34	74	34	---	---	---	---
COMMD8	54951	broad.mit.edu	37	4	47462166	47462166	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr4:47462166C>T	ENST00000381571.4	-	2	284	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	73								p.E73K(1)		large_intestine(2)|lung(5)|prostate(1)	8						GTTACCTCTTCATCAGGTAAG	0.343																																						uc003gxi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(217-219)GAA>AAA		COMM domain containing 8							97.0	101.0	100.0					4																	47462166		2203	4300	6503	SO:0001583	missense	54951						protein binding	g.chr4:47462166C>T	AY542163	CCDS3475.1	4p12	2008-02-05			ENSG00000169019	ENSG00000169019			26036	protein-coding gene	gene with protein product						15799966	Standard	NM_017845		Approved	FLJ20502	uc003gxi.3	Q9NX08	OTTHUMG00000099435	ENST00000381571.4:c.217G>A	4.37:g.47462166C>T	ENSP00000370984:p.Glu73Lys						p.E73K	NM_017845	NP_060315	Q9NX08	COMD8_HUMAN			2	225	-			73					Q8WUR4|Q9HC15	Missense_Mutation	SNP	ENST00000381571.4	37	c.217G>A	CCDS3475.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244250	0.59103	.	.	ENSG00000169019	ENST00000381571	T	0.11169	2.8	5.48	5.48	0.80851	.	0.139798	0.64402	D	0.000005	T	0.12774	0.0310	L	0.38838	1.175	0.52501	D	0.999959	P	0.43024	0.798	B	0.42030	0.373	T	0.03443	-1.1036	10	0.35671	T	0.21	-4.2114	18.1187	0.89564	0.0:1.0:0.0:0.0	.	73	Q9NX08	COMD8_HUMAN	K	73	ENSP00000370984:E73K	ENSP00000370984:E73K	E	-	1	0	COMMD8	47156923	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	3.015000	0.49599	2.574000	0.86865	0.591000	0.81541	GAA		PASS	0.343	COMMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216898.2	NM_017845		39	104	39	104	---	---	---	---
ATP10D	57205	broad.mit.edu	37	4	47538513	47538513	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr4:47538513G>A	ENST00000273859.3	+	8	1344	c.1075G>A	c.(1075-1077)Gat>Aat	p.D359N	ATP10D_ENST00000504445.1_Missense_Mutation_p.D359N	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	359					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.D359N(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TCCCGAGCCTGATGGACATAT	0.343																																						uc003gxk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1075-1077)GAT>AAT		ATPase, class V, type 10D							267.0	263.0	265.0					4																	47538513		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47538513G>A	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1075G>A	4.37:g.47538513G>A	ENSP00000273859:p.Asp359Asn					ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.D359N	p.D359N	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			8	1239	+			359			Extracellular (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.1075G>A	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.668427	0.29604	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.44482	0.92;4.0	5.46	5.46	0.80206	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.64402	D	0.000001	T	0.32071	0.0817	N	0.16743	0.435	0.40801	D	0.983341	B;B	0.20988	0.05;0.05	B;B	0.28011	0.085;0.058	T	0.10222	-1.0639	10	0.21540	T	0.41	-22.3925	18.3032	0.90171	0.0:0.0:1.0:0.0	.	359;359	Q9P241;Q6PEW3	AT10D_HUMAN;.	N	359	ENSP00000273859:D359N;ENSP00000420909:D359N	ENSP00000273859:D359N	D	+	1	0	ATP10D	47233270	0.589000	0.26807	0.926000	0.36857	0.003000	0.03518	1.640000	0.37186	2.577000	0.86979	0.655000	0.94253	GAT		PASS	0.343	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		19	337	19	337	---	---	---	---
PDGFRA	5156	broad.mit.edu	37	4	55152092	55152092	+	Missense_Mutation	SNP	G	G	C	rs121913269|rs121913261|rs121913260|rs121913262|rs121913265|rs121913264|rs121913258|rs121913259		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr4:55152092G>C	ENST00000257290.5	+	18	2855	c.2524G>C	c.(2524-2526)Gac>Cac	p.D842H	FIP1L1_ENST00000507166.1_Missense_Mutation_p.D602H	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	842	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> V (in a GIST sample; imatinib resistant, constitutively activated kinase). {ECO:0000269|PubMed:12522257, ECO:0000269|PubMed:15928335}.|D -> Y (in a GIST sample; imatinib sensitive, constitutively activated kinase). {ECO:0000269|PubMed:15928335}.|Missing (in a GIST sample; constitutively activated kinase). {ECO:0000269|PubMed:12522257}.		adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D842_H845del(13)|p.D842Y(5)|p.D842_M844del(4)|p.D842del(2)|p.D842I(1)|p.D842H(1)|p.D842_D846>S(1)|p.D842F(1)|p.D842_H845>Y(1)|p.D842_D846>N(1)|p.R841_D842del(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CCTGGCCAGAGACATCATGCA	0.493			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.3				Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		31	Deletion - In frame(20)|Substitution - Missense(8)|Complex - deletion inframe(3)	p.D842V(309)|p.D842_H845del(38)|p.D842Y(6)|p.D842_M844del(5)|p.D842_D846>H(4)|p.D842_D846>E(3)|p.D842_D846del(2)|p.D842I(2)|p.D842del(2)|p.D842_D846>A(2)|p.D842F(1)|p.D842_S847>EA(1)|p.R841_D842>KN(1)|p.D842_S847>RV(1)|p.D842*(1)|p.R841_D842del(1)|p.D842_D846>S(1)|p.D842_H845>A(1)|p.D842_D846>G(1)|p.D842_H845>Y(1)|p.D842_D846>N(1)|p.D842_H845>V(1)	soft_tissue(26)|stomach(2)|small_intestine(2)|lung(1)	soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(2524-2526)GAC>CAC		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						213.0	192.0	199.0					4																	55152092		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55152092G>C	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2524G>C	4.37:g.55152092G>C	ENSP00000257290:p.Asp842His	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Missense_Mutation_p.D602H	p.D842H	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		18	2855	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		842			Protein kinase.|Cytoplasmic (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.2524G>C	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	34	5.334395	0.95758	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.83837	-1.77;-1.77	6.04	6.04	0.98038	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33813	U	0.004525	D	0.89164	0.6637	L	0.45228	1.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89027	0.3439	10	0.87932	D	0	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	842	P16234	PGFRA_HUMAN	H	602;842	ENSP00000423325:D602H;ENSP00000257290:D842H	ENSP00000423325:D602H	D	+	1	0	FIP1L1;PDGFRA	54846849	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.813000	0.99286	2.873000	0.98535	0.561000	0.74099	GAC		PASS	0.493	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		6	193	6	193	---	---	---	---
POLR2B	5431	broad.mit.edu	37	4	57876647	57876647	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr4:57876647G>T	ENST00000381227.1	+	12	1938	c.1525G>T	c.(1525-1527)Gtg>Ttg	p.V509L	POLR2B_ENST00000431623.2_Missense_Mutation_p.V434L|POLR2B_ENST00000441246.2_Missense_Mutation_p.V502L|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000314595.5_Missense_Mutation_p.V509L			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	509					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)	p.V509L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GTGGGGAATGGTGTGTCCTGC	0.413																																						uc003hcl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1525-1527)GTG>TTG		DNA directed RNA polymerase II polypeptide B							107.0	107.0	107.0					4																	57876647		2203	4300	6503	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57876647G>T		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1525G>T	4.37:g.57876647G>T	ENSP00000370625:p.Val509Leu					POLR2B_uc011cae.1_Missense_Mutation_p.V502L|POLR2B_uc011caf.1_Missense_Mutation_p.V434L|POLR2B_uc003hcm.1_Missense_Mutation_p.V2L	p.V509L	NM_000938	NP_000929	P30876	RPB2_HUMAN			11	1568	+	Glioma(25;0.08)|all_neural(26;0.181)		509					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.1525G>T	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190281	0.58017	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.69	5.69	0.88448	RNA polymerase Rpb2, domain 3 (1);	0.000000	0.85682	D	0.000000	T	0.36663	0.0975	N	0.00493	-1.44	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.006	T	0.47724	-0.9095	10	0.09843	T	0.71	.	14.0164	0.64527	0.072:0.0:0.928:0.0	.	434;509	C9J4M6;P30876	.;RPB2_HUMAN	L	509;434;502;509	ENSP00000370625:V509L;ENSP00000391096:V434L;ENSP00000391452:V502L;ENSP00000312735:V509L	ENSP00000312735:V509L	V	+	1	0	POLR2B	57571404	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.826000	0.62715	2.702000	0.92279	0.591000	0.81541	GTG		PASS	0.413	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		100	22	100	22	---	---	---	---
TMPRSS11F	389208	broad.mit.edu	37	4	68930597	68930597	+	Missense_Mutation	SNP	C	C	T	rs377605520		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr4:68930597C>T	ENST00000356291.2	-	8	880	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	UBA6-AS1_ENST00000511571.1_RNA|RP11-35D5.1_ENST00000600441.1_RNA|UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	274	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.R274Q(3)		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						CCTCACATTTCGTTTCACTGC	0.343																																						uc003hdt.1																			3	Substitution - Missense(3)		lung(2)|large_intestine(1)	ovary(1)	1						c.(820-822)CGA>CAA		transmembrane protease, serine 11F		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	77.0	71.0	73.0		821	4.9	0.9	4		73	0,8600		0,0,4300	no	missense	TMPRSS11F	NM_207407.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	274/439	68930597	1,13005	2203	4300	6503	SO:0001583	missense	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68930597C>T	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.821G>A	4.37:g.68930597C>T	ENSP00000348639:p.Arg274Gln					LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron|SYT14L_uc010ihn.2_5'Flank	p.R274Q	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN			8	870	-			274			Peptidase S1.|Extracellular (Potential).		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	c.821G>A	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082564	0.36758	2.27E-4	0.0	ENSG00000198092	ENST00000356291	D	0.93547	-3.24	5.71	4.86	0.63082	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.48286	D	0.000187	D	0.89114	0.6623	M	0.68728	2.09	0.32928	D	0.516753	D	0.55385	0.971	B	0.32211	0.142	D	0.92248	0.5806	10	0.52906	T	0.07	.	11.1263	0.48320	0.0:0.9129:0.0:0.0871	.	274	Q6ZWK6	TM11F_HUMAN	Q	274	ENSP00000348639:R274Q	ENSP00000348639:R274Q	R	-	2	0	TMPRSS11F	68613192	0.001000	0.12720	0.940000	0.37924	0.227000	0.25037	1.314000	0.33597	2.709000	0.92574	0.655000	0.94253	CGA		PASS	0.343	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		34	45	34	45	---	---	---	---
HNRNPD	3184	broad.mit.edu	37	4	83278594	83278594	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr4:83278594C>A	ENST00000313899.7	-	5	902	c.625G>T	c.(625-627)Gaa>Taa	p.E209*	HNRNPD_ENST00000543098.1_Nonsense_Mutation_p.E157*|HNRNPD_ENST00000353341.4_Nonsense_Mutation_p.E209*|HNRNPD_ENST00000508119.1_5'Flank|HNRNPD_ENST00000352301.4_Nonsense_Mutation_p.E190*|HNRNPD_ENST00000541060.1_Nonsense_Mutation_p.E55*	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	209	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)	p.E209*(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						TCTATGGATTCCACCTGGTAT	0.358																																						uc003hmm.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(625-627)GAA>TAA		heterogeneous nuclear ribonucleoprotein D							70.0	68.0	69.0					4																	83278594		2203	4300	6503	SO:0001587	stop_gained	3184				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding	g.chr4:83278594C>A	AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"""RNA binding motif (RRM) containing"""	5036	protein-coding gene	gene with protein product		601324	"""heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"""	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.625G>T	4.37:g.83278594C>A	ENSP00000313199:p.Glu209*					HNRNPD_uc003hml.1_RNA|HNRNPD_uc003hmn.1_Nonsense_Mutation_p.E190*|HNRNPD_uc003hmo.1_Nonsense_Mutation_p.E209*|HNRNPD_uc003hmp.1_Nonsense_Mutation_p.E190*|HNRNPD_uc010ijr.1_Nonsense_Mutation_p.E190*|HNRNPD_uc011cci.1_Nonsense_Mutation_p.E55*	p.E209*	NM_031370	NP_112738	Q14103	HNRPD_HUMAN			5	943	-			209			RRM 2.		A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Nonsense_Mutation	SNP	ENST00000313899.7	37	c.625G>T	CCDS3592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.145409|5.145409	0.94603|0.94603	.|.	.|.	ENSG00000138668|ENSG00000138668	ENST00000313899;ENST00000353341;ENST00000352301;ENST00000543098;ENST00000307213;ENST00000541060;ENST00000509263;ENST00000507010;ENST00000515432|ENST00000514671	.|.	.|.	.|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79857	.|0.4518	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77656	.|-0.2506	.|3	0.62326|.	D|.	0.03|.	.|.	19.9433|19.9433	0.97172|0.97172	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	209;209;190;157;184;55;142;209;111|112	.|.	ENSP00000307544:E184X|.	E|G	-|-	1|2	0|0	HNRNPD|HNRNPD	83497618|83497618	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	7.487000|7.487000	0.81328|0.81328	2.716000|2.716000	0.92895|0.92895	0.655000|0.655000	0.94253|0.94253	GAA|GGA		PASS	0.358	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2	NM_031370		43	10	43	10	---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104116309	104116309	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr4:104116309G>C	ENST00000265148.3	-	5	528	c.439C>G	c.(439-441)Caa>Gaa	p.Q147E	CENPE_ENST00000380026.3_Missense_Mutation_p.Q147E	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	147	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.Q147E(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTCATTTTTTGAGTGCCACAG	0.308																																						uc003hxb.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)	9						c.(439-441)CAA>GAA		centromere protein E							93.0	95.0	94.0					4																	104116309		2203	4291	6494	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104116309G>C	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.439C>G	4.37:g.104116309G>C	ENSP00000265148:p.Gln147Glu					CENPE_uc003hxc.1_Missense_Mutation_p.Q147E	p.Q147E	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	5	529	-			147			Kinesin-motor.		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.439C>G	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878947	0.33162	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.71934	-0.61;-0.61;-0.61	5.94	0.461	0.16689	Kinesin, motor domain (4);	.	.	.	.	T	0.45597	0.1350	N	0.04162	-0.26	0.26128	N	0.980457	B;B	0.22003	0.063;0.0	B;B	0.19391	0.025;0.001	T	0.33214	-0.9877	9	0.38643	T	0.18	.	8.5256	0.33302	0.0:0.2787:0.2615:0.4598	.	147;147	Q02224-3;Q02224	.;CENPE_HUMAN	E	147	ENSP00000265148:Q147E;ENSP00000369365:Q147E;ENSP00000423981:Q147E	ENSP00000265148:Q147E	Q	-	1	0	CENPE	104335758	0.977000	0.34250	0.867000	0.34043	0.937000	0.57800	1.677000	0.37576	0.094000	0.17404	-0.158000	0.13435	CAA		PASS	0.308	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	94	5	94	---	---	---	---
TBCK	93627	broad.mit.edu	37	4	107173142	107173142	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr4:107173142C>A	ENST00000273980.5	-	7	925	c.478G>T	c.(478-480)Gag>Tag	p.E160*	TBCK_ENST00000394706.3_Nonsense_Mutation_p.E160*|TBCK_ENST00000361687.4_Nonsense_Mutation_p.E97*|TBCK_ENST00000394708.2_Nonsense_Mutation_p.E160*|TBCK_ENST00000432496.2_Nonsense_Mutation_p.E160*					TBC1 domain containing kinase									p.E160*(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						GCAATTACCTCAGGGGCCAAG	0.378																																						uc010ilv.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						c.(478-480)GAG>TAG		TBC domain-containing protein kinase-like							91.0	89.0	89.0					4																	107173142		2203	4299	6502	SO:0001587	stop_gained	93627					intracellular	Rab GTPase activator activity	g.chr4:107173142C>A		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.478G>T	4.37:g.107173142C>A	ENSP00000273980:p.Glu160*					TBCK_uc003hye.2_Nonsense_Mutation_p.E160*|TBCK_uc003hyc.2_Nonsense_Mutation_p.E97*|TBCK_uc003hyd.2_5'UTR|TBCK_uc003hyf.2_Nonsense_Mutation_p.E160*	p.E160*	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN			6	843	-			160			Protein kinase.			Nonsense_Mutation	SNP	ENST00000273980.5	37	c.478G>T	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734571	0.89482	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9179	0.97070	0.0:1.0:0.0:0.0	.	.	.	.	X	160;160;97;160;160	.	ENSP00000273980:E160X	E	-	1	0	TBCK	107392591	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.114000	0.77103	2.723000	0.93209	0.655000	0.94253	GAG		PASS	0.378	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		33	67	33	67	---	---	---	---
ENPEP	2028	broad.mit.edu	37	4	111471004	111471004	+	Silent	SNP	T	T	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr4:111471004T>C	ENST00000265162.5	+	17	2805	c.2463T>C	c.(2461-2463)taT>taC	p.Y821Y		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	821					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Y821Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		AACTGCTGTATGGATTAGCAT	0.353																																						uc003iab.3																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)|breast(1)	5						c.(2461-2463)TAT>TAC		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						75.0	78.0	77.0					4																	111471004		2203	4300	6503	SO:0001819	synonymous_variant	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111471004T>C	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.2463T>C	4.37:g.111471004T>C							p.Y821Y	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	17	2805	+		Hepatocellular(203;0.217)	821			Extracellular (Potential).		Q504U2	Silent	SNP	ENST00000265162.5	37	c.2463T>C	CCDS3691.1																																																																																				PASS	0.353	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			80	14	80	14	---	---	---	---
ANXA5	308	broad.mit.edu	37	4	122589678	122589678	+	Missense_Mutation	SNP	T	T	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr4:122589678T>A	ENST00000296511.5	-	13	1193	c.908A>T	c.(907-909)gAt>gTt	p.D303V	ANXA5_ENST00000501272.2_Missense_Mutation_p.D243V|ANXA5_ENST00000515017.1_Missense_Mutation_p.D203V	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	303					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)	p.D303V(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						CCCAGATGTATCTCCCTGAAA	0.428																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)	uc003idu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(907-909)GAT>GTT		annexin 5							153.0	134.0	141.0					4																	122589678		2203	4300	6503	SO:0001583	missense	308				anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr4:122589678T>A	U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"""Annexins"""	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.908A>T	4.37:g.122589678T>A	ENSP00000296511:p.Asp303Val					ANXA5_uc003idv.3_Missense_Mutation_p.D303V|ANXA5_uc003idw.3_RNA|ANXA5_uc010inm.2_Missense_Mutation_p.D259V|ANXA5_uc010inn.2_Missense_Mutation_p.D243V|ANXA5_uc010ino.2_Missense_Mutation_p.D203V	p.D303V	NM_001154	NP_001145	P08758	ANXA5_HUMAN			12	978	-			303			Annexin 4.		D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Missense_Mutation	SNP	ENST00000296511.5	37	c.908A>T	CCDS3720.1	.	.	.	.	.	.	.	.	.	.	T	18.50	3.637248	0.67130	.	.	ENSG00000164111	ENST00000296511;ENST00000512232;ENST00000501272;ENST00000515017	T;T;T	0.03982	3.74;3.74;3.74	5.77	5.77	0.91146	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.32346	0.0826	H	0.94582	3.555	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;1.0	T	0.45131	-0.9282	10	0.87932	D	0	.	15.7516	0.77989	0.0:0.0:0.0:1.0	.	203;243;259;303	D6RBE9;D6RBL5;E7ENQ5;P08758	.;.;.;ANXA5_HUMAN	V	303;259;243;203	ENSP00000296511:D303V;ENSP00000424106:D243V;ENSP00000424199:D203V	ENSP00000296511:D303V	D	-	2	0	ANXA5	122809128	1.000000	0.71417	0.416000	0.26546	0.515000	0.34225	5.861000	0.69553	2.194000	0.70268	0.528000	0.53228	GAT		PASS	0.428	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256636.2	NM_001154		65	16	65	16	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177052713	177052713	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr4:177052713C>A	ENST00000280190.4	+	8	1150	c.994C>A	c.(994-996)Caa>Aaa	p.Q332K	WDR17_ENST00000393643.2_Missense_Mutation_p.Q308K|WDR17_ENST00000507824.2_Missense_Mutation_p.Q315K|WDR17_ENST00000508596.1_Missense_Mutation_p.Q308K			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	332								p.Q332K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGTTTCAGTCCAATCTCCAAC	0.343																																						uc003iuj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(994-996)CAA>AAA		WD repeat domain 17 isoform 1							132.0	131.0	131.0					4																	177052713		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177052713C>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.994C>A	4.37:g.177052713C>A	ENSP00000280190:p.Gln332Lys					WDR17_uc003iuk.2_Missense_Mutation_p.Q308K|WDR17_uc003ium.3_Missense_Mutation_p.Q308K|WDR17_uc003iul.1_Intron	p.Q332K	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	8	1150	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	332					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.994C>A	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972265	0.34754	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.56103	0.51;0.53;0.48	5.44	4.58	0.56647	WD40 repeat-like-containing domain (1);	0.467541	0.24786	N	0.035605	T	0.28300	0.0699	N	0.08118	0	0.27236	N	0.959271	B;B	0.26195	0.144;0.144	B;B	0.18263	0.021;0.021	T	0.04607	-1.0939	10	0.05959	T	0.93	-15.056	15.1158	0.72401	0.0:0.9286:0.0:0.0714	.	308;332	E7EQX0;Q8IZU2	.;WDR17_HUMAN	K	308;308;332;315	ENSP00000422763:Q308K;ENSP00000377258:Q308K;ENSP00000280190:Q332K	ENSP00000280190:Q332K	Q	+	1	0	WDR17	177289707	0.987000	0.35691	0.984000	0.44739	0.809000	0.45718	3.639000	0.54339	2.719000	0.93026	0.650000	0.86243	CAA		PASS	0.343	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			5	149	5	149	---	---	---	---
TRIML1	339976	broad.mit.edu	37	4	189067993	189067993	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr4:189067993C>A	ENST00000332517.3	+	6	1014	c.874C>A	c.(874-876)Cca>Aca	p.P292T	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	292	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.P292T(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)		AACGCTGGACCCAGCCACAGC	0.478																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(874-876)CCA>ACA		tripartite motif family-like 1							152.0	155.0	154.0					4																	189067993		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189067993C>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.874C>A	4.37:g.189067993C>A	ENSP00000327738:p.Pro292Thr					TRIML1_uc003izn.1_Missense_Mutation_p.P16T	p.P292T	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	989	+		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)	292			B30.2/SPRY.		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.874C>A	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	c	13.87	2.366248	0.41902	.	.	ENSG00000184108	ENST00000332517	T	0.19806	2.12	4.92	4.06	0.47325	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.123988	0.37669	N	0.001987	T	0.48370	0.1496	M	0.91140	3.18	0.42232	D	0.991893	D	0.56968	0.978	P	0.58013	0.831	T	0.61118	-0.7127	10	0.54805	T	0.06	-10.6923	13.2339	0.59958	0.0:0.839:0.161:0.0	.	292	Q8N9V2	TRIML_HUMAN	T	292	ENSP00000327738:P292T	ENSP00000327738:P292T	P	+	1	0	TRIML1	189304987	0.987000	0.35691	0.999000	0.59377	0.375000	0.29983	2.387000	0.44389	1.429000	0.47314	0.550000	0.68814	CCA		PASS	0.478	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		133	46	133	46	---	---	---	---
BRD9	65980	broad.mit.edu	37	5	889243	889243	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr5:889243C>A	ENST00000467963.1	-	5	665	c.499G>T	c.(499-501)Gat>Tat	p.D167Y	BRD9_ENST00000435709.2_Missense_Mutation_p.D51Y|BRD9_ENST00000388890.4_Missense_Mutation_p.D51Y|BRD9_ENST00000483173.1_Missense_Mutation_p.D114Y|BRD9_ENST00000323510.4_Missense_Mutation_p.D51Y|BRD9_ENST00000494422.1_5'Flank	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	167	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)	p.D167Y(1)|p.D51Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GCAATTGCATCCGTGACAGGA	0.348																																						uc003jbq.2																			2	Substitution - Missense(2)		lung(2)		0						c.(499-501)GAT>TAT		bromodomain containing 9 isoform 1							71.0	69.0	70.0					5																	889243		2203	4300	6503	SO:0001583	missense	65980						nucleic acid binding	g.chr5:889243C>A	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.499G>T	5.37:g.889243C>A	ENSP00000419765:p.Asp167Tyr					BRD9_uc003jbl.2_Missense_Mutation_p.D51Y|BRD9_uc003jbm.2_RNA|BRD9_uc003jbn.2_RNA|BRD9_uc011cmb.1_Missense_Mutation_p.D114Y|BRD9_uc003jbo.2_Missense_Mutation_p.D51Y|BRD9_uc011cmc.1_RNA	p.D167Y	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		5	666	-			167			Bromo.		A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Missense_Mutation	SNP	ENST00000467963.1	37	c.499G>T	CCDS34127.2	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629842	0.46944	.	.	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000483173;ENST00000467963;ENST00000435709;ENST00000489093	T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5	5.8	4.02	0.46733	Bromodomain (5);	0.044702	0.85682	D	0.000000	T	0.66237	0.2769	H	0.96048	3.76	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.994;0.992;0.997;0.994	T	0.74827	-0.3532	10	0.87932	D	0	.	11.6492	0.51279	0.0:0.8078:0.1245:0.0677	.	114;167;51;51	B4DMQ2;Q9H8M2;Q9H8M2-1;Q9H8M2-3	.;BRD9_HUMAN;.;.	Y	51;51;114;167;51;51	ENSP00000323557:D51Y;ENSP00000373542:D51Y;ENSP00000419845:D114Y;ENSP00000419765:D167Y;ENSP00000402984:D51Y;ENSP00000420722:D51Y	ENSP00000323557:D51Y	D	-	1	0	BRD9	942243	1.000000	0.71417	0.915000	0.36163	0.003000	0.03518	7.255000	0.78338	0.796000	0.33947	-0.150000	0.13652	GAT		PASS	0.348	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		28	58	28	58	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13776760	13776760	+	Nonsense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr5:13776760G>C	ENST00000265104.4	-	55	9265	c.9161C>G	c.(9160-9162)tCa>tGa	p.S3054*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3054	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S3054*(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTCATGACTGATGCCAGGTC	0.428									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(9160-9162)TCA>TGA		dynein, axonemal, heavy chain 5							122.0	115.0	117.0					5																	13776760		2203	4300	6503	SO:0001587	stop_gained	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13776760G>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9161C>G	5.37:g.13776760G>C	ENSP00000265104:p.Ser3054*						p.S3054*	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			55	9203	-	Lung NSC(4;0.00476)		3054			AAA 4 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	c.9161C>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	49	15.800237	0.99845	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.79	4.0	0.46444	.	0.615341	0.17266	N	0.180569	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	12.7855	0.57502	0.1346:0.0:0.8654:0.0	.	.	.	.	X	3054	.	ENSP00000265104:S3054X	S	-	2	0	DNAH5	13829760	0.975000	0.34042	0.410000	0.26471	0.121000	0.20230	5.635000	0.67841	1.450000	0.47717	0.655000	0.94253	TCA		PASS	0.428	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		76	178	76	178	---	---	---	---
ZNF622	90441	broad.mit.edu	37	5	16463253	16463253	+	Missense_Mutation	SNP	T	T	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr5:16463253T>A	ENST00000308683.2	-	3	1139	c.1013A>T	c.(1012-1014)gAt>gTt	p.D338V		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	338					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.D338V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CAAAGCAGCATCGCCATCTGT	0.403																																						uc003jfq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1012-1014)GAT>GTT		zinc finger protein 622							157.0	157.0	157.0					5																	16463253		2203	4300	6503	SO:0001583	missense	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16463253T>A	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.1013A>T	5.37:g.16463253T>A	ENSP00000310042:p.Asp338Val						p.D338V	NM_033414	NP_219482	Q969S3	ZN622_HUMAN			3	1133	-			338						Missense_Mutation	SNP	ENST00000308683.2	37	c.1013A>T	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.608954	0.87258	.	.	ENSG00000173545	ENST00000308683	T	0.44881	0.91	6.03	6.03	0.97812	.	0.042946	0.85682	D	0.000000	T	0.63977	0.2557	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.65442	-0.6167	10	0.59425	D	0.04	0.7452	16.5655	0.84588	0.0:0.0:0.0:1.0	.	338	Q969S3	ZN622_HUMAN	V	338	ENSP00000310042:D338V	ENSP00000310042:D338V	D	-	2	0	ZNF622	16516253	1.000000	0.71417	0.295000	0.24960	0.980000	0.70556	7.988000	0.88194	2.302000	0.77476	0.533000	0.62120	GAT		PASS	0.403	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		104	351	104	351	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19612689	19612689	+	Missense_Mutation	SNP	T	T	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr5:19612689T>A	ENST00000507958.1	-	8	1655	c.665A>T	c.(664-666)cAt>cTt	p.H222L	CDH18_ENST00000511273.1_Missense_Mutation_p.H222L|CDH18_ENST00000382275.1_Missense_Mutation_p.H222L|CDH18_ENST00000502796.1_Missense_Mutation_p.H222L|CDH18_ENST00000506372.1_Missense_Mutation_p.H222L|CDH18_ENST00000274170.4_Missense_Mutation_p.H222L			Q13634	CAD18_HUMAN	cadherin 18, type 2	222	Cadherin 2. {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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H222L(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)					GTCCATGTTATGTAAGGCCGT	0.363																																						uc003jgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(664-666)CAT>CTT		cadherin 18, type 2 preproprotein							147.0	138.0	141.0					5																	19612689		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19612689T>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.665A>T	5.37:g.19612689T>A	ENSP00000425093:p.His222Leu					CDH18_uc003jgd.2_Missense_Mutation_p.H222L|CDH18_uc011cnm.1_Missense_Mutation_p.H222L	p.H222L	NM_004934	NP_004925	Q13634	CAD18_HUMAN			5	1042	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		222			Extracellular (Potential).|Cadherin 2.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.665A>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	T	15.34	2.804687	0.50315	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.95	4.78	0.61160	Cadherin (4);Cadherin-like (1);	0.303544	0.36591	N	0.002501	T	0.26955	0.0660	N	0.12569	0.235	0.39199	D	0.963106	B;B	0.26002	0.139;0.009	B;B	0.29524	0.103;0.026	T	0.10965	-1.0607	9	.	.	.	.	7.0226	0.24922	0.0:0.0757:0.1489:0.7754	.	222;222	B4DHG6;Q13634	.;CAD18_HUMAN	L	222;222;222;222;222;222;168;222	ENSP00000371710:H222L;ENSP00000425093:H222L;ENSP00000274170:H222L;ENSP00000424931:H222L;ENSP00000422138:H222L;ENSP00000427383:H168L;ENSP00000425854:H222L	.	H	-	2	0	CDH18	19648446	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.425000	0.59875	1.069000	0.40788	0.460000	0.39030	CAT		PASS	0.363	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		33	102	33	102	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26915914	26915914	+	Missense_Mutation	SNP	A	A	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr5:26915914A>T	ENST00000231021.4	-	3	519	c.347T>A	c.(346-348)cTa>cAa	p.L116Q		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	116	Cadherin 1. {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.L116Q(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTCTCTGTCTAGTTTCTTTGC	0.383																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(346-348)CTA>CAA		cadherin 9, type 2 preproprotein							146.0	148.0	147.0					5																	26915914		2203	4299	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26915914A>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.347T>A	5.37:g.26915914A>T	ENSP00000231021:p.Leu116Gln					CDH9_uc010iug.2_Missense_Mutation_p.L116Q	p.L116Q	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			3	516	-			116			Extracellular (Potential).|Cadherin 1.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.347T>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.347488	0.82022	.	.	ENSG00000113100	ENST00000231021;ENST00000513289	T;T	0.75154	-0.91;-0.91	4.62	4.62	0.57501	Cadherin (5);Cadherin-like (1);	0.000000	0.64402	D	0.000001	D	0.92205	0.7528	H	0.99634	4.67	0.50313	D	0.999861	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.94943	0.8093	9	.	.	.	.	13.1622	0.59550	1.0:0.0:0.0:0.0	.	116;116	E7EPN0;Q9ULB4	.;CADH9_HUMAN	Q	116	ENSP00000231021:L116Q;ENSP00000426239:L116Q	.	L	-	2	0	CDH9	26951671	1.000000	0.71417	0.980000	0.43619	0.987000	0.75469	8.806000	0.91930	1.845000	0.53610	0.477000	0.44152	CTA		PASS	0.383	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		162	293	162	293	---	---	---	---
C6	729	broad.mit.edu	37	5	41203217	41203217	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr5:41203217C>T	ENST00000263413.3	-	2	380	c.116G>A	c.(115-117)tGc>tAc	p.C39Y	C6_ENST00000337836.5_Missense_Mutation_p.C39Y	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	39	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.C39Y(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCCAGAATTGCAAGTTTTTGA	0.493																																						uc003jmk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(115-117)TGC>TAC		complement component 6 precursor							210.0	209.0	209.0					5																	41203217		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41203217C>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.116G>A	5.37:g.41203217C>T	ENSP00000263413:p.Cys39Tyr					C6_uc003jml.1_Missense_Mutation_p.C39Y	p.C39Y	NM_000065	NP_000056	P13671	CO6_HUMAN			2	326	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	39			TSP type-1 1.			Missense_Mutation	SNP	ENST00000263413.3	37	c.116G>A	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731354	0.89390	.	.	ENSG00000039537	ENST00000337836;ENST00000263413;ENST00000417809	D;D;D	0.96491	-4.03;-4.03;-4.03	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.99199	0.9722	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98626	1.0669	10	0.87932	D	0	-16.1016	19.1014	0.93275	0.0:1.0:0.0:0.0	.	39	P13671	CO6_HUMAN	Y	39	ENSP00000338861:C39Y;ENSP00000263413:C39Y;ENSP00000396565:C39Y	ENSP00000263413:C39Y	C	-	2	0	C6	41238974	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.863000	0.69568	2.810000	0.96702	0.585000	0.79938	TGC		PASS	0.493	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			169	296	169	296	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45353289	45353289	+	Silent	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr5:45353289C>T	ENST00000303230.4	-	5	1347	c.1290G>A	c.(1288-1290)aaG>aaA	p.K430K		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	430					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.K430K(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AATCATGTATCTTCTGACGCA	0.323																																						uc003jok.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1288-1290)AAG>AAA		hyperpolarization activated cyclic							159.0	146.0	150.0					5																	45353289		2203	4299	6502	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45353289C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1290G>A	5.37:g.45353289C>T							p.K430K	NM_021072	NP_066550	O60741	HCN1_HUMAN			5	1315	-			430			Cytoplasmic (Potential).			Silent	SNP	ENST00000303230.4	37	c.1290G>A	CCDS3952.1																																																																																				PASS	0.323	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		39	268	39	268	---	---	---	---
MIER3	166968	broad.mit.edu	37	5	56233465	56233465	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr5:56233465C>T	ENST00000381199.3	-	5	386	c.376G>A	c.(376-378)Gat>Aat	p.D126N	MIER3_ENST00000381226.3_Missense_Mutation_p.D131N|MIER3_ENST00000381213.3_Missense_Mutation_p.D126N|MIER3_ENST00000409421.1_Missense_Mutation_p.D63N			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	126			D -> G (in dbSNP:rs17854108). {ECO:0000269|PubMed:15489334}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D126N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		GGCGTCAGATCATCCGCAGAA	0.418																																						uc003jrd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(376-378)GAT>AAT		mesoderm induction early response 1, family							127.0	115.0	119.0					5																	56233465		2203	4300	6503	SO:0001583	missense	166968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr5:56233465C>T	BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.376G>A	5.37:g.56233465C>T	ENSP00000370596:p.Asp126Asn					MIER3_uc003jqz.1_Missense_Mutation_p.D63N|MIER3_uc003jra.1_Missense_Mutation_p.D126N|MIER3_uc003jrb.1_5'UTR|MIER3_uc003jrc.1_Missense_Mutation_p.D131N	p.D126N	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)	5	401	-		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)	126					B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	ENST00000381199.3	37	c.376G>A		.	.	.	.	.	.	.	.	.	.	C	27.6	4.843494	0.91197	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421;ENST00000336942	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.59514	0.2199	M	0.75777	2.31	0.80722	D	1	D;B;B	0.89917	1.0;0.412;0.412	D;B;B	0.83275	0.996;0.104;0.104	T	0.54510	-0.8283	10	0.46703	T	0.11	-15.5111	20.6593	0.99626	0.0:1.0:0.0:0.0	.	126;131;126	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	N	131;126;126;63;99	ENSP00000370624:D131N;ENSP00000370611:D126N;ENSP00000370596:D126N;ENSP00000386584:D63N;ENSP00000337027:D99N	ENSP00000337027:D99N	D	-	1	0	MIER3	56269222	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.794000	0.85869	2.885000	0.99019	0.655000	0.94253	GAT		PASS	0.418	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	NM_152622		81	19	81	19	---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70837343	70837343	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr5:70837343G>C	ENST00000358731.4	+	29	6348	c.6085G>C	c.(6085-6087)Gat>Cat	p.D2029H	BDP1_ENST00000380675.2_Missense_Mutation_p.D165H	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2029					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D2029H(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TTCTAGCCTAGATAATGTAAA	0.308																																						uc003kbp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(6085-6087)GAT>CAT		transcription factor-like nuclear regulator							115.0	111.0	112.0					5																	70837343		1835	4095	5930	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70837343G>C	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.6085G>C	5.37:g.70837343G>C	ENSP00000351575:p.Asp2029His					BDP1_uc003kbo.2_Missense_Mutation_p.D2029H|BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA	p.D2029H	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	29	6348	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	2029					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.6085G>C	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680551	0.29872	.	.	ENSG00000145734	ENST00000358731;ENST00000451951;ENST00000380675;ENST00000545546	T;T	0.56941	3.26;0.43	5.81	4.03	0.46877	.	0.709607	0.13751	N	0.365232	T	0.41003	0.1140	L	0.31926	0.97	0.09310	N	0.999999	B;B	0.32382	0.094;0.368	B;B	0.32677	0.044;0.15	T	0.31503	-0.9941	10	0.54805	T	0.06	.	8.1769	0.31287	0.0837:0.1578:0.7585:0.0	.	2029;2029	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	H	2029;1577;165;165	ENSP00000351575:D2029H;ENSP00000370050:D165H	ENSP00000351575:D2029H	D	+	1	0	BDP1	70873099	0.022000	0.18835	0.163000	0.22734	0.952000	0.60782	0.743000	0.26231	0.804000	0.34136	0.460000	0.39030	GAT		PASS	0.308	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		4	189	4	189	---	---	---	---
FAM169A	26049	broad.mit.edu	37	5	74077738	74077738	+	Silent	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr5:74077738C>T	ENST00000389156.4	-	13	1650	c.1560G>A	c.(1558-1560)aaG>aaA	p.K520K	FAM169A_ENST00000380515.3_3'UTR|RNU6-1330P_ENST00000362775.1_RNA|FAM169A_ENST00000510496.1_Silent_p.K460K	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	520						membrane (GO:0016020)|nucleus (GO:0005634)		p.K520K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GATGTGCTTTCTTTCTTGGAA	0.423																																						uc003kdm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1558-1560)AAG>AAA		hypothetical protein LOC26049							97.0	90.0	92.0					5																	74077738		1892	4118	6010	SO:0001819	synonymous_variant	26049							g.chr5:74077738C>T		CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.1560G>A	5.37:g.74077738C>T						FAM169A_uc010izm.2_Silent_p.K460K|FAM169A_uc003kdl.2_Silent_p.K338K	p.K520K	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN			13	1603	-			520					A8K1T9|Q6MZT0|Q9H989	Silent	SNP	ENST00000389156.4	37	c.1560G>A	CCDS43330.1																																																																																				PASS	0.423	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2			150	31	150	31	---	---	---	---
MCTP1	79772	broad.mit.edu	37	5	94253660	94253660	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr5:94253660G>C	ENST00000515393.1	-	8	1290	c.1291C>G	c.(1291-1293)Ctt>Gtt	p.L431V	MCTP1_ENST00000505078.1_Intron|MCTP1_ENST00000312216.8_Missense_Mutation_p.L210V|MCTP1_ENST00000429576.2_Intron|MCTP1_ENST00000505208.1_Missense_Mutation_p.L210V	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	431					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.L431V(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AGGACAGGAAGAGCTGGCCTG	0.433																																						uc003kkx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1291-1293)CTT>GTT		multiple C2 domains, transmembrane 1 isoform L							68.0	71.0	70.0					5																	94253660		2203	4300	6503	SO:0001583	missense	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94253660G>C		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1291C>G	5.37:g.94253660G>C	ENSP00000424126:p.Leu431Val					MCTP1_uc003kkv.2_Missense_Mutation_p.L210V|MCTP1_uc003kkw.2_Intron|MCTP1_uc003kkz.2_Missense_Mutation_p.L92V|MCTP1_uc003kku.2_Intron	p.L431V	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	8	1291	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	431					Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	c.1291C>G	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	g	1.637	-0.517594	0.04171	.	.	ENSG00000175471	ENST00000515393;ENST00000312216;ENST00000512425;ENST00000505208	T;T;T;T	0.77098	-1.07;-0.94;-0.9;-1.05	5.13	-3.9	0.04181	.	1.510570	0.03942	N	0.287117	T	0.55689	0.1936	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.14023	0.003;0.01	T	0.40572	-0.9556	10	0.25106	T	0.35	2.3367	6.6701	0.23064	0.6404:0.0:0.2211:0.1386	.	431;210	Q6DN14;Q6DN14-2	MCTP1_HUMAN;.	V	431;210;92;210	ENSP00000424126:L431V;ENSP00000308957:L210V;ENSP00000431075:L92V;ENSP00000426438:L210V	ENSP00000308957:L210V	L	-	1	0	MCTP1	94279416	0.061000	0.20836	0.000000	0.03702	0.540000	0.34992	-0.296000	0.08287	-0.662000	0.05338	0.651000	0.88453	CTT		PASS	0.433	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		29	65	29	65	---	---	---	---
C5orf30	90355	broad.mit.edu	37	5	102611747	102611747	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr5:102611747C>T	ENST00000319933.2	+	3	435	c.127C>T	c.(127-129)Ccg>Tcg	p.P43S	C5orf30_ENST00000515669.1_Missense_Mutation_p.P43S|C5orf30_ENST00000510890.1_Missense_Mutation_p.P43S	NM_033211.2	NP_149988.1	Q96GV9	CE030_HUMAN	chromosome 5 open reading frame 30	43					cilium morphogenesis (GO:0060271)|protein transport (GO:0015031)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)		p.P43S(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		ACCCTGCTCCCCGATGCGGAG	0.592																																						uc003kog.1																			1	Substitution - Missense(1)		lung(1)		0						c.(127-129)CCG>TCG		hypothetical protein LOC90355							61.0	54.0	56.0					5																	102611747		2203	4300	6503	SO:0001583	missense	90355							g.chr5:102611747C>T		CCDS4095.1	5q21.1	2012-02-23			ENSG00000181751	ENSG00000181751			25052	protein-coding gene	gene with protein product						22085962	Standard	NM_033211		Approved	FLJ25291	uc003kog.1	Q96GV9	OTTHUMG00000128738	ENST00000319933.2:c.127C>T	5.37:g.102611747C>T	ENSP00000326110:p.Pro43Ser					C5orf30_uc003koh.1_Missense_Mutation_p.P43S	p.P43S	NM_033211	NP_149988	Q96GV9	CE030_HUMAN		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)	3	396	+		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)	43						Missense_Mutation	SNP	ENST00000319933.2	37	c.127C>T	CCDS4095.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237092	0.95240	.	.	ENSG00000181751	ENST00000319933;ENST00000515669;ENST00000510890	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.72803	0.3506	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.74025	-0.3797	9	0.87932	D	0	-23.2173	20.6208	0.99490	0.0:1.0:0.0:0.0	.	43	Q96GV9	CE030_HUMAN	S	43	.	ENSP00000326110:P43S	P	+	1	0	C5orf30	102639646	1.000000	0.71417	0.685000	0.30070	0.957000	0.61999	7.066000	0.76734	2.882000	0.98803	0.655000	0.94253	CCG		PASS	0.592	C5orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250649.1	NM_033211		69	11	69	11	---	---	---	---
CAMK4	814	broad.mit.edu	37	5	110820052	110820052	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr5:110820052C>G	ENST00000282356.4	+	11	1708	c.1310C>G	c.(1309-1311)gCa>gGa	p.A437G	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.A437G	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	437					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.A437G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GAGGGCCTAGCAGAGGAGAAG	0.537																																						uc011cvj.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)	5						c.(1309-1311)GCA>GGA		calcium/calmodulin-dependent protein kinase IV							50.0	51.0	51.0					5																	110820052		2202	4300	6502	SO:0001583	missense	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110820052C>G	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.1310C>G	5.37:g.110820052C>G	ENSP00000282356:p.Ala437Gly					CAMK4_uc003kpf.2_Missense_Mutation_p.A437G|CAMK4_uc010jbv.2_Missense_Mutation_p.A240G|CAMK4_uc003kpg.2_Missense_Mutation_p.A128G	p.A437G	NM_001744	NP_001735	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	12	1409	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	437					D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	c.1310C>G	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	C	7.211	0.595392	0.13875	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.69306	-0.39;-0.39	4.17	-5.45	0.02616	.	1.723410	0.04004	N	0.296962	T	0.41766	0.1173	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33189	-0.9878	10	0.72032	D	0.01	.	4.7145	0.12889	0.1176:0.576:0.1174:0.189	.	437	Q16566	KCC4_HUMAN	G	437	ENSP00000422634:A437G;ENSP00000282356:A437G	ENSP00000282356:A437G	A	+	2	0	CAMK4	110847951	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.504000	0.00964	-0.969000	0.03573	-1.051000	0.02340	GCA		PASS	0.537	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		5	51	5	51	---	---	---	---
STARD4	134429	broad.mit.edu	37	5	110842061	110842061	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr5:110842061C>A	ENST00000296632.3	-	3	256	c.122G>T	c.(121-123)tGg>tTg	p.W41L	STARD4_ENST00000502322.1_Missense_Mutation_p.W41L|STARD4_ENST00000509887.1_Missense_Mutation_p.W41L|STARD4_ENST00000512160.1_Missense_Mutation_p.W41L|STARD4_ENST00000511569.1_5'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	41	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)	p.W41L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		GGGTTTTCTCCAAACAGTTAC	0.284																																						uc003kph.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(121-123)TGG>TTG		StAR-related lipid transfer (START) domain							27.0	30.0	29.0					5																	110842061		2188	4281	6469	SO:0001583	missense	134429				lipid transport		lipid binding	g.chr5:110842061C>A	AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"""StAR-related lipid transfer (START) domain containing"""	18058	protein-coding gene	gene with protein product		607049	"""START domain containing 4, sterol regulated"""			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.122G>T	5.37:g.110842061C>A	ENSP00000296632:p.Trp41Leu					STARD4_uc010jbw.1_5'UTR|STARD4_uc010jbx.1_5'UTR|STARD4_uc003kpi.1_RNA|STARD4_uc003kpj.2_Missense_Mutation_p.W41L	p.W41L	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)	3	206	-		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)	41			START.		Q86TN9	Missense_Mutation	SNP	ENST00000296632.3	37	c.122G>T	CCDS4104.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463902	0.63513	.	.	ENSG00000164211	ENST00000296632;ENST00000512160;ENST00000505803;ENST00000502322;ENST00000509887	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.3	5.3	0.74995	Lipid-binding START (2);START-like domain (1);	0.000000	0.64402	D	0.000003	T	0.63022	0.2476	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.989;0.999	P;D	0.72625	0.87;0.978	T	0.57353	-0.7826	10	0.11182	T	0.66	-4.1234	19.3055	0.94161	0.0:1.0:0.0:0.0	.	41;41	Q86TN9;Q96DR4	.;STAR4_HUMAN	L	41	ENSP00000296632:W41L;ENSP00000426148:W41L;ENSP00000427478:W41L;ENSP00000427639:W41L;ENSP00000425308:W41L	ENSP00000296632:W41L	W	-	2	0	STARD4	110869960	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.833000	0.69349	2.643000	0.89663	0.555000	0.69702	TGG		PASS	0.284	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250720.1	NM_139164		27	6	27	6	---	---	---	---
HSD17B4	3295	broad.mit.edu	37	5	118862906	118862906	+	Missense_Mutation	SNP	C	C	G	rs138507337		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr5:118862906C>G	ENST00000256216.6	+	20	1892	c.1759C>G	c.(1759-1761)Caa>Gaa	p.Q587E	HSD17B4_ENST00000414835.2_Missense_Mutation_p.Q447E|HSD17B4_ENST00000509514.1_Missense_Mutation_p.Q325E|HSD17B4_ENST00000513628.1_Missense_Mutation_p.Q450E|HSD17B4_ENST00000510025.1_Missense_Mutation_p.Q563E|HSD17B4_ENST00000504811.1_Missense_Mutation_p.Q612E|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000515320.1_Missense_Mutation_p.Q569E	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	587	Enoyl-CoA hydratase 2.|MaoC-like.			Q -> R (in Ref. 4; BAG60363). {ECO:0000305}.	alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.Q587E(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		AATTCATTTTCAAACCAAGGT	0.348																																					Colon(35;490 801 34689 41394 43344)	uc003ksj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1759-1761)CAA>GAA		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)	C	GLU/GLN,GLU/GLN,GLU/GLN	0,4404		0,0,2202	71.0	71.0	71.0		1759,1834,1705	5.1	1.0	5	dbSNP_134	71	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	HSD17B4	NM_000414.3,NM_001199291.1,NM_001199292.1	29,29,29	0,1,6500	GG,GC,CC		0.0116,0.0,0.0077	benign,benign,benign	587/737,612/762,569/719	118862906	1,13001	2202	4299	6501	SO:0001583	missense	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118862906C>G		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1759C>G	5.37:g.118862906C>G	ENSP00000256216:p.Gln587Glu					HSD17B4_uc011cwg.1_Missense_Mutation_p.Q563E|HSD17B4_uc011cwh.1_Missense_Mutation_p.Q569E|HSD17B4_uc011cwi.1_Missense_Mutation_p.Q612E|HSD17B4_uc003ksk.3_Missense_Mutation_p.Q440E|HSD17B4_uc011cwj.1_Missense_Mutation_p.Q440E|HSD17B4_uc010jcn.1_Missense_Mutation_p.Q325E|HSD17B4_uc010jco.1_Missense_Mutation_p.F55L	p.Q587E	NM_000414	NP_000405	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	20	1882	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	587			MaoC-like.|Enoyl-CoA hydratase 2.		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	c.1759C>G	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114080	0.37339	0.0	1.16E-4	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.1	5.1	0.69264	MaoC-like dehydratase (1);	0.049178	0.85682	D	0.000000	T	0.65974	0.2743	L	0.28649	0.875	0.58432	D	0.99999	P;B;B;P;B	0.52577	0.954;0.116;0.046;0.751;0.049	B;B;B;B;B	0.36666	0.23;0.069;0.034;0.184;0.057	T	0.70375	-0.4889	10	0.41790	T	0.15	-11.111	17.2737	0.87109	0.0:1.0:0.0:0.0	.	612;569;563;325;587	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	E	587;569;563;612;447;450;325	ENSP00000256216:Q587E;ENSP00000424613:Q569E;ENSP00000424940:Q563E;ENSP00000420914:Q612E;ENSP00000411960:Q447E;ENSP00000425993:Q450E;ENSP00000426272:Q325E	ENSP00000256216:Q587E	Q	+	1	0	HSD17B4	118890805	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	4.979000	0.63806	2.385000	0.81259	0.591000	0.81541	CAA		PASS	0.348	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		4	67	4	67	---	---	---	---
ACSL6	23305	broad.mit.edu	37	5	131290009	131290009	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr5:131290009G>T	ENST00000379240.1	-	21	2165	c.2012C>A	c.(2011-2013)aCa>aAa	p.T671K	ACSL6_ENST00000379249.3_Intron|ACSL6_ENST00000357096.1_Missense_Mutation_p.T596K|ACSL6_ENST00000379246.1_Missense_Mutation_p.T682K|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379244.1_Missense_Mutation_p.T671K|ACSL6_ENST00000296869.4_Missense_Mutation_p.T696K|ACSL6_ENST00000544770.1_Missense_Mutation_p.T580K|ACSL6_ENST00000379264.2_Missense_Mutation_p.T696K|ACSL6_ENST00000379272.2_Missense_Mutation_p.T686K|ACSL6_ENST00000431707.1_Missense_Mutation_p.T651K|ACSL6_ENST00000379255.1_Missense_Mutation_p.T596K|ACSL6_ENST00000543479.1_Missense_Mutation_p.T671K			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	671					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)	p.T696K(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAGTGTTGGTGTCAGCAAGCC	0.368																																						uc010jdo.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(2011-2013)ACA>AAA		acyl-CoA synthetase long-chain family member 6							108.0	95.0	99.0					5																	131290009		2203	4300	6503	SO:0001583	missense	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131290009G>T	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.2012C>A	5.37:g.131290009G>T	ENSP00000368542:p.Thr671Lys					ACSL6_uc003kvv.1_Intron|ACSL6_uc003kvx.1_Missense_Mutation_p.T696K|ACSL6_uc003kvy.1_Missense_Mutation_p.T696K|ACSL6_uc003kwb.2_Missense_Mutation_p.T661K|ACSL6_uc003kvz.1_Missense_Mutation_p.T596K|ACSL6_uc003kwa.1_Missense_Mutation_p.T682K|ACSL6_uc003kvw.1_Missense_Mutation_p.T317K|ACSL6_uc010jdn.1_Missense_Mutation_p.T686K	p.T671K	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		21	2095	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	671			Cytoplasmic (Potential).		J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37	c.2012C>A		.	.	.	.	.	.	.	.	.	.	G	26.2	4.712448	0.89112	.	.	ENSG00000164398	ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479	T;T;T;T;T;T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.64800	0.2631	H	0.97758	4.07	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.99;0.977;1.0;0.99;0.99;0.99	T	0.78321	-0.2249	10	0.87932	D	0	.	19.561	0.95373	0.0:0.0:1.0:0.0	.	671;686;661;671;596;696;696	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	K	696;686;596;596;696;682;671;580;671;651;671	ENSP00000368566:T696K;ENSP00000368574:T686K;ENSP00000349608:T596K;ENSP00000368557:T596K;ENSP00000296869:T696K;ENSP00000368548:T682K;ENSP00000368546:T671K;ENSP00000445154:T580K;ENSP00000368542:T671K;ENSP00000413329:T651K;ENSP00000442124:T671K	ENSP00000296869:T696K	T	-	2	0	ACSL6	131317908	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	2.696000	0.92011	0.655000	0.94253	ACA		PASS	0.368	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		61	11	61	11	---	---	---	---
SAR1B	51128	broad.mit.edu	37	5	133945269	133945269	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr5:133945269C>T	ENST00000402673.2	-	5	618	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	SAR1B_ENST00000439578.1_Missense_Mutation_p.E114K|SAR1B_ENST00000502539.1_Missense_Mutation_p.E46K|SAR1B_ENST00000507419.1_Missense_Mutation_p.E46K|SAR1B_ENST00000509937.1_Missense_Mutation_p.E46K	NM_016103.3	NP_057187.1	Q9Y6B6	SAR1B_HUMAN	secretion associated, Ras related GTPase 1B	114					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|GTP catabolic process (GO:0006184)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.E114K(1)		kidney(2)|lung(2)|urinary_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACATCAAGTTCTTCTTTTGAC	0.398																																						uc003kzq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(340-342)GAA>AAA		SAR1a gene homolog 2							116.0	104.0	108.0					5																	133945269		2203	4300	6503	SO:0001583	missense	51128				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi cisterna membrane	GTP binding|GTPase activity|metal ion binding	g.chr5:133945269C>T	AF092130	CCDS4177.1	5q31.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000152700	ENSG00000152700			10535	protein-coding gene	gene with protein product		607690	"""SAR1a gene homolog (S. cerevisiae) 2"", ""SAR1a gene homolog 2 (S. cerevisiae)"", ""SAR1 homolog B (S. cerevisiae)"""	SARA2			Standard	NM_001033503		Approved		uc003kzr.3	Q9Y6B6	OTTHUMG00000129114	ENST00000402673.2:c.340G>A	5.37:g.133945269C>T	ENSP00000385432:p.Glu114Lys					SAR1B_uc003kzr.2_Missense_Mutation_p.E114K	p.E114K	NM_001033503	NP_001028675	Q9Y6B6	SAR1B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	587	-			114					D3DQA4|Q567T4	Missense_Mutation	SNP	ENST00000402673.2	37	c.340G>A	CCDS4177.1	.	.	.	.	.	.	.	.	.	.	C	36	5.664168	0.96745	.	.	ENSG00000152700	ENST00000394992;ENST00000402673;ENST00000507419;ENST00000502539;ENST00000439578;ENST00000509937;ENST00000509730;ENST00000505758	T;T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	5.46	5.46	0.80206	Small GTP-binding protein domain (1);	0.180559	0.64402	D	0.000014	D	0.90191	0.6934	H	0.99090	4.425	0.80722	D	1	D	0.64830	0.994	D	0.75020	0.985	D	0.93962	0.7241	10	0.87932	D	0	-12.7786	19.6791	0.95956	0.0:1.0:0.0:0.0	.	114	Q9Y6B6	SAR1B_HUMAN	K	46;114;46;46;114;46;46;114	ENSP00000385432:E114K;ENSP00000425339:E46K;ENSP00000426335:E46K;ENSP00000404997:E114K;ENSP00000424673:E46K;ENSP00000423197:E46K;ENSP00000425466:E114K	ENSP00000378443:E46K	E	-	1	0	SAR1B	133973168	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.033000	0.70925	2.732000	0.93576	0.591000	0.81541	GAA		PASS	0.398	SAR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251158.2	NM_016103		31	62	31	62	---	---	---	---
PCDHB4	56131	broad.mit.edu	37	5	140502023	140502023	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr5:140502023G>T	ENST00000194152.1	+	1	443	c.443G>T	c.(442-444)gGt>gTt	p.G148V	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	148	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G148V(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCCAGCCGGGTACTCTATTT	0.393																																						uc003lip.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(442-444)GGT>GTT		protocadherin beta 4 precursor							51.0	56.0	54.0					5																	140502023		2203	4299	6502	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502023G>T	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.443G>T	5.37:g.140502023G>T	ENSP00000194152:p.Gly148Val						p.G148V	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	443	+			148			Cadherin 2.|Extracellular (Potential).		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.443G>T	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922326	0.33908	.	.	ENSG00000081818	ENST00000194152	T	0.32988	1.43	4.56	4.56	0.56223	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.66896	0.2836	H	0.97806	4.08	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	T	0.75858	-0.3169	9	0.87932	D	0	.	8.9784	0.35950	0.08:0.0:0.7703:0.1497	.	148	Q9Y5E5	PCDB4_HUMAN	V	148	ENSP00000194152:G148V	ENSP00000194152:G148V	G	+	2	0	PCDHB4	140482207	0.963000	0.33076	0.962000	0.40283	0.197000	0.23852	3.003000	0.49505	2.513000	0.84729	0.655000	0.94253	GGT		PASS	0.393	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		78	23	78	23	---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140558009	140558009	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr5:140558009C>G	ENST00000239444.2	+	1	639	c.394C>G	c.(394-396)Cca>Gca	p.P132A	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	132	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.P132A(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGACCACTCTCCAGTATTTCT	0.453																																						uc011dai.1																			1	Substitution - Missense(1)		lung(1)	skin(4)	4						c.(394-396)CCA>GCA		protocadherin beta 8 precursor							27.0	44.0	38.0					5																	140558009		2193	4295	6488	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558009C>G	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.394C>G	5.37:g.140558009C>G	ENSP00000239444:p.Pro132Ala					PCDHB16_uc003liv.2_5'Flank	p.P132A	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	580	+			132			Cadherin 1.|Extracellular (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.394C>G	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	c	18.99	3.739658	0.69304	.	.	ENSG00000120322	ENST00000239444	T	0.72282	-0.64	4.25	4.25	0.50352	Cadherin (2);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.91153	0.7214	H	0.99600	4.65	0.49389	D	0.999782	D	0.71674	0.998	D	0.87578	0.998	D	0.95329	0.8428	9	0.87932	D	0	.	16.2711	0.82622	0.0:1.0:0.0:0.0	.	132	Q9UN66	PCDB8_HUMAN	A	132	ENSP00000239444:P132A	ENSP00000239444:P132A	P	+	1	0	PCDHB8	140538193	1.000000	0.71417	0.032000	0.17829	0.862000	0.49288	6.017000	0.70805	1.911000	0.55334	0.585000	0.79938	CCA		PASS	0.453	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		51	152	51	152	---	---	---	---
PCDHGC5	56097	broad.mit.edu	37	5	140870417	140870417	+	Missense_Mutation	SNP	G	G	C	rs374508743		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr5:140870417G>C	ENST00000252087.1	+	1	1610	c.1610G>C	c.(1609-1611)cGa>cCa	p.R537P	PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R537P(2)|p.R537Q(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGGGTTCGAGACTCCGGC	0.537																																						uc003lla.1																			4	Substitution - Missense(4)		prostate(2)|lung(2)	ovary(3)	3						c.(1609-1611)CGA>CCA		protocadherin gamma subfamily C, 5 isoform 1							70.0	70.0	70.0					5																	140870417		2203	4300	6503	SO:0001583	missense	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140870417G>C	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1610G>C	5.37:g.140870417G>C	ENSP00000252087:p.Arg537Pro					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.R537P	p.R537P	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1610	+			537			Extracellular (Potential).|Cadherin 5.		Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	c.1610G>C	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565739	0.45694	.	.	ENSG00000240764	ENST00000252087	T	0.54479	0.57	5.45	4.59	0.56863	Cadherin (5);Cadherin-like (1);	0.146167	0.31335	N	0.007824	T	0.74450	0.3718	M	0.91818	3.245	0.38138	D	0.93836	D;D	0.71674	0.98;0.998	P;D	0.69824	0.68;0.966	T	0.80659	-0.1284	10	0.87932	D	0	.	8.7999	0.34903	0.227:0.0:0.773:0.0	.	537;537	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	P	537	ENSP00000252087:R537P	ENSP00000252087:R537P	R	+	2	0	PCDHGC5	140850601	0.002000	0.14202	1.000000	0.80357	0.988000	0.76386	0.494000	0.22467	1.543000	0.49345	0.655000	0.94253	CGA		PASS	0.537	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		32	46	32	46	---	---	---	---
PCDHGC5	56097	broad.mit.edu	37	5	140871060	140871060	+	Silent	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr5:140871060G>C	ENST00000252087.1	+	1	2253	c.2253G>C	c.(2251-2253)gtG>gtC	p.V751V	PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	751					homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V751V(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGCAGGTGAGCTCGGACG	0.652																																						uc003lla.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(2251-2253)GTG>GTC		protocadherin gamma subfamily C, 5 isoform 1							44.0	45.0	45.0					5																	140871060		2203	4300	6503	SO:0001819	synonymous_variant	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140871060G>C	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.2253G>C	5.37:g.140871060G>C						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Silent_p.V751V	p.V751V	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2253	+			751			Cytoplasmic (Potential).		Q9Y5C2	Silent	SNP	ENST00000252087.1	37	c.2253G>C	CCDS4263.1																																																																																				PASS	0.652	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		4	80	4	80	---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149109981	149109981	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr5:149109981C>G	ENST00000309241.5	+	1	108	c.76C>G	c.(76-78)Cag>Gag	p.Q26E	MIR378A_ENST00000362177.1_RNA|PPARGC1B_ENST00000461780.1_3'UTR|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.Q26E|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.Q26E	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	26	Abolishes DNA transcriptional activity when missing.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q26E(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CGCTGACACGCAGGTACGGCC	0.731																																						uc003lrc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(76-78)CAG>GAG		peroxisome proliferator-activated receptor							14.0	13.0	13.0					5																	149109981		2170	4264	6434	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149109981C>G	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.76C>G	5.37:g.149109981C>G	ENSP00000312649:p.Gln26Glu					PPARGC1B_uc003lrb.1_Missense_Mutation_p.Q26E|PPARGC1B_uc003lrd.2_Missense_Mutation_p.Q26E|MIR378_hsa-mir-378|MI0000786_5'Flank	p.Q26E	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		1	118	+			26			Abolishes DNA transcriptional activity when missing.		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.76C>G	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813484	0.50527	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241	T;T;T	0.09630	2.96;2.99;3.0	3.63	3.63	0.41609	.	0.901661	0.09408	N	0.806298	T	0.14227	0.0344	L	0.56769	1.78	0.80722	D	1	B;B;B	0.29988	0.264;0.01;0.029	B;B;B	0.28011	0.085;0.006;0.009	T	0.16158	-1.0412	10	0.20046	T	0.44	-8.6465	15.4423	0.75195	0.0:1.0:0.0:0.0	.	26;26;26	Q86YN6-5;Q86YN6;Q86YN6-3	.;PRGC2_HUMAN;.	E	26	ENSP00000353638:Q26E;ENSP00000377855:Q26E;ENSP00000312649:Q26E	ENSP00000312649:Q26E	Q	+	1	0	PPARGC1B	149090174	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.049000	0.57397	2.003000	0.58678	0.305000	0.20034	CAG		PASS	0.731	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		2	1	2	1	---	---	---	---
IL12B	3593	broad.mit.edu	37	5	158749482	158749482	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr5:158749482C>A	ENST00000231228.2	-	4	857	c.402G>T	c.(400-402)aaG>aaT	p.K134N		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	134					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)	p.K134N(1)		cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGAATAATTCTTGGCCTCGC	0.393																																						uc003lxr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(400-402)AAG>AAT		interleukin 12B precursor							95.0	94.0	95.0					5																	158749482		2203	4300	6503	SO:0001583	missense	3593				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity	g.chr5:158749482C>A	M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5970	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor-2"", ""cytotoxic lymphocyte maturation factor 2, p40"", ""interleukin 12, p40"", ""natural killer cell stimulatory factor, 40 kD subunit"", ""interleukin-12 beta chain"", ""IL12, subunit p40"""	161561	"""interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"""	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.402G>T	5.37:g.158749482C>A	ENSP00000231228:p.Lys134Asn						p.K134N	NM_002187	NP_002178	P29460	IL12B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	444	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	134						Missense_Mutation	SNP	ENST00000231228.2	37	c.402G>T	CCDS4346.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798285	0.31777	.	.	ENSG00000113302	ENST00000231228	T	0.18338	2.22	5.87	0.915	0.19366	Fibronectin, type III (1);Interleukin-12, beta subunit, central domain (1);Immunoglobulin-like fold (1);	0.362475	0.34178	N	0.004195	T	0.14527	0.0351	L	0.55481	1.735	0.30967	N	0.723035	B	0.33841	0.428	B	0.35278	0.199	T	0.10520	-1.0626	10	0.35671	T	0.21	-3.4515	6.0946	0.20013	0.1243:0.5727:0.0:0.303	.	134	P29460	IL12B_HUMAN	N	134	ENSP00000231228:K134N	ENSP00000231228:K134N	K	-	3	2	IL12B	158682060	0.991000	0.36638	0.964000	0.40570	0.920000	0.55202	0.071000	0.14594	-0.254000	0.09500	-0.797000	0.03246	AAG		PASS	0.393	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	NM_002187		8	91	8	91	---	---	---	---
GABRA6	2559	broad.mit.edu	37	5	161128738	161128738	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr5:161128738C>G	ENST00000274545.5	+	9	1754	c.1321C>G	c.(1321-1323)Ctt>Gtt	p.L441V	GABRA6_ENST00000523217.1_Missense_Mutation_p.L431V			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	441					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.L441V(1)|p.L441F(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GGTAGTTTATCTTTCCAAAGA	0.418										TCGA Ovarian(5;0.080)																												uc003lyu.2																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1321-1323)CTT>GTT		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						106.0	96.0	99.0					5																	161128738		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161128738C>G		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1321C>G	5.37:g.161128738C>G	ENSP00000274545:p.Leu441Val	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Missense_Mutation_p.L212V	p.L441V	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1659	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	441			Helical; (Probable).		A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.1321C>G	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556008	0.65425	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.85484	-1.99;-1.99	5.16	5.16	0.70880	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.87537	0.6202	L	0.41356	1.27	0.48762	D	0.999702	D	0.89917	1.0	D	0.85130	0.997	D	0.84173	0.0435	10	0.23302	T	0.38	.	12.3828	0.55315	0.0:0.9226:0.0:0.0774	.	441	Q16445	GBRA6_HUMAN	V	441;431	ENSP00000274545:L441V;ENSP00000430527:L431V	ENSP00000274545:L441V	L	+	1	0	GABRA6	161061316	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.211000	0.51137	2.571000	0.86741	0.655000	0.94253	CTT		PASS	0.418	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			10	134	10	134	---	---	---	---
GFOD1	54438	broad.mit.edu	37	6	13486973	13486973	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:13486973G>C	ENST00000379287.3	-	1	814	c.150C>G	c.(148-150)ttC>ttG	p.F50L	GFOD1-AS1_ENST00000446001.1_RNA|GFOD1_ENST00000603223.1_Missense_Mutation_p.F50L|AL583828.1_ENST00000558378.1_5'Flank|GFOD1_ENST00000379278.3_5'Flank	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	50						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)	p.F50L(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GGCTAGTGTAGAAGGGGACAC	0.607																																						uc003nat.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(148-150)TTC>TTG		glucose-fructose oxidoreductase domain							163.0	127.0	139.0					6																	13486973		2203	4300	6503	SO:0001583	missense	54438					extracellular region	binding|oxidoreductase activity	g.chr6:13486973G>C	AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 114"""	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.150C>G	6.37:g.13486973G>C	ENSP00000368589:p.Phe50Leu					GFOD1_uc003nas.1_5'Flank|C6orf114_uc003nav.2_5'Flank	p.F50L	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)		1	815	-	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	50					A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	ENST00000379287.3	37	c.150C>G	CCDS4524.1	.	.	.	.	.	.	.	.	.	.	g	25.1	4.607068	0.87157	.	.	ENSG00000145990	ENST00000379287	T	0.20881	2.04	4.37	2.51	0.30379	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.15782	0.0380	M	0.72479	2.2	0.80722	D	1	P	0.42357	0.777	P	0.53266	0.722	T	0.23868	-1.0176	10	0.07482	T	0.82	-5.5796	8.8628	0.35267	0.1918:0.0:0.8082:0.0	.	50	Q9NXC2	GFOD1_HUMAN	L	50	ENSP00000368589:F50L	ENSP00000368589:F50L	F	-	3	2	GFOD1	13594952	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.830000	0.55768	0.454000	0.26884	-0.319000	0.08680	TTC		PASS	0.607	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		13	59	13	59	---	---	---	---
ALDH5A1	7915	broad.mit.edu	37	6	24505163	24505163	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:24505163G>T	ENST00000357578.3	+	4	821	c.676G>T	c.(676-678)Gtg>Ttg	p.V226L	ALDH5A1_ENST00000491546.1_Missense_Mutation_p.V198L|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.V226L|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.V138L	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	226					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)	p.V226L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	CTGTACTGTCGTGGTGAAGCC	0.582																																						uc003neg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(676-678)GTG>TTG		aldehyde dehydrogenase 5A1 isoform 2 precursor	Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)						74.0	77.0	76.0					6																	24505163		2203	4300	6503	SO:0001583	missense	7915				acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	g.chr6:24505163G>T	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.676G>T	6.37:g.24505163G>T	ENSP00000350191:p.Val226Leu					ALDH5A1_uc003nef.2_Missense_Mutation_p.V226L	p.V226L	NM_001080	NP_001071	P51649	SSDH_HUMAN			4	704	+			226					B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	ENST00000357578.3	37	c.676G>T	CCDS4555.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868734	0.72065	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22	4.84	4.84	0.62591	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.131327	0.50627	D	0.000111	D	0.92067	0.7486	M	0.68593	2.085	0.80722	D	1	P;P	0.43938	0.822;0.787	B;B	0.43386	0.418;0.294	D	0.93422	0.6778	10	0.87932	D	0	-13.3433	18.5192	0.90945	0.0:0.0:1.0:0.0	.	226;226	P51649;G5E949	SSDH_HUMAN;.	L	226;138;198;226	ENSP00000350191:V226L;ENSP00000438193:V138L;ENSP00000417687:V198L;ENSP00000314649:V226L	ENSP00000314649:V226L	V	+	1	0	ALDH5A1	24613142	1.000000	0.71417	0.963000	0.40424	0.064000	0.16182	9.183000	0.94887	2.677000	0.91161	0.655000	0.94253	GTG		PASS	0.582	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2			7	135	7	135	---	---	---	---
HIST1H2BF	8343	broad.mit.edu	37	6	26200015	26200015	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:26200015G>A	ENST00000359985.1	+	1	268	c.229G>A	c.(229-231)Gag>Aag	p.E77K	HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	77					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E77K(3)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				CATCGCTGGCGAGGCTTCCCG	0.612																																						uc003ngx.2																			3	Substitution - Missense(3)		upper_aerodigestive_tract(2)|lung(1)		0						c.(229-231)GAG>AAG		histone cluster 1, H2bf							143.0	137.0	139.0					6																	26200015		2203	4300	6503	SO:0001583	missense	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26200015G>A	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"""Histones / Replication-dependent"""	4752	protein-coding gene	gene with protein product		602804	"""H2B histone family, member G"", ""histone 1, H2bf"""	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.229G>A	6.37:g.26200015G>A	ENSP00000353074:p.Glu77Lys					HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank	p.E77K	NM_003522	NP_003513	P62807	H2B1C_HUMAN			1	229	+		all_hematologic(11;0.196)	77					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000359985.1	37	c.229G>A	CCDS4592.1	.	.	.	.	.	.	.	.	.	.	.	20.5	3.992985	0.74703	.	.	ENSG00000197846	ENST00000359985	T	0.34472	1.36	3.89	3.89	0.44902	.	0.000000	0.41823	D	0.000808	T	0.42966	0.1226	.	.	.	0.37925	D	0.931804	.	.	.	.	.	.	T	0.46555	-0.9183	7	0.54805	T	0.06	.	15.7145	0.77658	0.0:0.0:1.0:0.0	.	.	.	.	K	77	ENSP00000353074:E77K	ENSP00000353074:E77K	E	+	1	0	HIST1H2BF	26307994	1.000000	0.71417	0.760000	0.31359	0.006000	0.05464	6.646000	0.74348	2.102000	0.63906	0.650000	0.86243	GAG		PASS	0.612	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522		31	215	31	215	---	---	---	---
ZNF184	7738	broad.mit.edu	37	6	27419815	27419816	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:27419815_27419816CC>AT	ENST00000211936.6	-	6	1806_1807	c.1522_1523GG>AT	c.(1522-1524)GGa>ATa	p.G508I	ZNF184_ENST00000377419.1_Missense_Mutation_p.G508I	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	508					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G508I(1)|p.G508R(1)|p.G508V(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GAAAGCCTTTCCACATTCACTG	0.396																																						uc003njj.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(1522-1524)GGA>GTA|c.(1522-1524)GGA>AGA		zinc finger protein 184																																				SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27419815C>A|g.chr6:27419816C>T	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1522_1523delinsAT	6.37:g.27419815_27419816delinsAT	ENSP00000211936:p.Gly508Ile					ZNF184_uc010jqv.2_Missense_Mutation_p.G508V|ZNF184_uc003nji.2_Missense_Mutation_p.G508V|ZNF184_uc010jqv.2_Missense_Mutation_p.G508R|ZNF184_uc003nji.2_Missense_Mutation_p.G508R	p.G508V|p.G508R	NM_007149	NP_009080	Q99676	ZN184_HUMAN			5	2334|2333	-			508			C2H2-type 11.		B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.1523G>T|c.1522G>A	CCDS4624.1																																																																																				PASS	0.396	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		111|113	17|16	111	16	---	---	---	---
ZKSCAN8	7745	broad.mit.edu	37	6	28121333	28121333	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:28121333G>C	ENST00000330236.6	+	6	1459	c.1275G>C	c.(1273-1275)caG>caC	p.Q425H	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.Q425H	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	425					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.Q425H(1)									TTCTGCACCAGAGAATCCACA	0.502																																						uc003nkn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1273-1275)CAG>CAC		zinc finger protein 192							70.0	74.0	72.0					6																	28121333		2203	4300	6503	SO:0001583	missense	7745				viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28121333G>C		CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12983	protein-coding gene	gene with protein product		602240	"""zinc finger protein 192"""	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.1275G>C	6.37:g.28121333G>C	ENSP00000332750:p.Gln425His					ZNF192_uc010jqx.1_Missense_Mutation_p.Q425H|ZNF192_uc010jqy.1_Missense_Mutation_p.Q238H|ZNF192_uc011dkz.1_Missense_Mutation_p.Q238H	p.Q425H	NM_006298	NP_006289	Q15776	ZN192_HUMAN			6	1459	+			425			C2H2-type 4.		A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Missense_Mutation	SNP	ENST00000330236.6	37	c.1275G>C	CCDS4645.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429700	0.43122	.	.	ENSG00000198315	ENST00000330236;ENST00000457389	T;T	0.36520	1.25;1.25	5.99	4.21	0.49690	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000038	T	0.14614	0.0353	L	0.48174	1.505	0.80722	D	1	P	0.45078	0.85	B	0.40256	0.324	T	0.04191	-1.0970	10	0.42905	T	0.14	.	5.2772	0.15657	0.2223:0.0:0.635:0.1427	.	425	Q15776	ZN192_HUMAN	H	425	ENSP00000332750:Q425H;ENSP00000402948:Q425H	ENSP00000332750:Q425H	Q	+	3	2	ZNF192	28229312	0.042000	0.20092	1.000000	0.80357	0.998000	0.95712	1.119000	0.31258	0.862000	0.35528	0.655000	0.94253	CAG		PASS	0.502	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2			23	126	23	126	---	---	---	---
PGBD1	84547	broad.mit.edu	37	6	28251600	28251600	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:28251600G>T	ENST00000405948.2	+	2	430	c.10G>T	c.(10-12)Gct>Tct	p.A4S	PGBD1_ENST00000259883.3_Missense_Mutation_p.A4S	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	4						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A4S(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CATGTATGAAGCTTTGCCAGG	0.468																																						uc003nky.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(10-12)GCT>TCT		piggyBac transposable element derived 1							82.0	87.0	85.0					6																	28251600		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28251600G>T	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.10G>T	6.37:g.28251600G>T	ENSP00000385213:p.Ala4Ser					PGBD1_uc003nkz.2_Missense_Mutation_p.A4S	p.A4S	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			2	380	+			4					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.10G>T	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369532	0.24771	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01495	4.83;4.83	4.16	3.29	0.37713	Speract/scavenger receptor (1);	.	.	.	.	T	0.00524	0.0017	L	0.27053	0.805	0.23896	N	0.996533	B	0.33694	0.421	B	0.28139	0.086	T	0.47873	-0.9083	9	0.26408	T	0.33	-6.3458	8.1819	0.31315	0.108:0.0:0.892:0.0	.	4	Q96JS3	PGBD1_HUMAN	S	4	ENSP00000385213:A4S;ENSP00000259883:A4S	ENSP00000259883:A4S	A	+	1	0	PGBD1	28359579	0.996000	0.38824	0.652000	0.29579	0.732000	0.41865	2.354000	0.44098	1.327000	0.45338	0.655000	0.94253	GCT		PASS	0.468	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			7	198	7	198	---	---	---	---
MOG	4340	broad.mit.edu	37	6	29627371	29627371	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:29627371G>A	ENST00000376917.3	+	2	593	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	MOG_ENST00000469603.1_3'UTR|MOG_ENST00000431798.2_Missense_Mutation_p.E122K|MOG_ENST00000396704.3_Missense_Mutation_p.E122K|MOG_ENST00000396701.2_Missense_Mutation_p.E122K|MOG_ENST00000376898.3_Missense_Mutation_p.E122K|MOG_ENST00000533330.2_Missense_Mutation_p.E122K|MOG_ENST00000376888.2_Intron|MOG_ENST00000376902.3_Missense_Mutation_p.E122K|MOG_ENST00000376894.4_Missense_Mutation_p.E122K|MOG_ENST00000494692.1_Missense_Mutation_p.E122K|MOG_ENST00000416766.2_Missense_Mutation_p.E122K|MOG_ENST00000490427.1_Intron|MOG_ENST00000483013.1_Intron|MOG_ENST00000376891.4_Missense_Mutation_p.E122K	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	122	Ig-like V-type.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E122K(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GTTCTCAGATGAAGGAGGTTT	0.468																																						uc003nnf.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(364-366)GAA>AAA		myelin oligodendrocyte glycoprotein isoform							65.0	66.0	65.0					6																	29627371		1511	2709	4220	SO:0001583	missense	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29627371G>A		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.364G>A	6.37:g.29627371G>A	ENSP00000366115:p.Glu122Lys					MOG_uc003qzk.1_Missense_Mutation_p.E122K|MOG_uc010kle.1_Intron|MOG_uc010klf.1_Intron|MOG_uc003nmy.1_Missense_Mutation_p.E122K|MOG_uc003nmz.2_Missense_Mutation_p.E122K|MOG_uc011dlt.1_Missense_Mutation_p.E52K|MOG_uc003nna.2_Intron|MOG_uc011dlu.1_Intron|MOG_uc011dlv.1_Intron|MOG_uc003nnd.2_Missense_Mutation_p.E122K|MOG_uc003nne.2_Missense_Mutation_p.E122K|MOG_uc003nng.2_Missense_Mutation_p.E122K|MOG_uc003nnh.2_Missense_Mutation_p.E122K|MOG_uc003nni.2_Missense_Mutation_p.E122K|MOG_uc003nnj.2_Missense_Mutation_p.E122K|MOG_uc003nnk.2_Missense_Mutation_p.E122K	p.E122K	NM_206809	NP_996532	Q16653	MOG_HUMAN			2	542	+			122			Ig-like V-type.|Extracellular (Potential).		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.364G>A	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301935	0.81136	.	.	ENSG00000204655	ENST00000376917;ENST00000376902;ENST00000533330;ENST00000376894;ENST00000416766;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	T;T;T;T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.72	4.85	0.62838	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000010	T	0.63604	0.2525	L	0.42245	1.32	0.32664	N	0.517712	D;D;D;D;D;D;D;D;D;P;P	0.89917	0.987;1.0;0.999;0.999;0.999;0.999;0.999;1.0;0.963;0.849;0.947	P;D;D;D;D;D;D;D;P;B;P	0.91635	0.897;0.999;0.993;0.993;0.996;0.992;0.992;0.997;0.673;0.389;0.825	T	0.68021	-0.5519	10	0.54805	T	0.06	.	8.2693	0.31833	0.0833:0.1568:0.7599:0.0	.	52;122;122;122;122;122;122;122;122;122;122	B7Z2X8;C9JTE0;F8W9D5;Q16653-2;Q16653-3;Q16653-6;Q16653-7;Q16653;Q16653-5;Q16653-10;Q5SUK5	.;.;.;.;.;.;.;MOG_HUMAN;.;.;.	K	122	ENSP00000366115:E122K;ENSP00000366100:E122K;ENSP00000431709:E122K;ENSP00000366091:E122K;ENSP00000409394:E122K;ENSP00000366088:E122K;ENSP00000366095:E122K;ENSP00000410866:E122K;ENSP00000379929:E122K;ENSP00000417405:E122K;ENSP00000379932:E122K	ENSP00000366088:E122K	E	+	1	0	MOG	29735350	0.992000	0.36948	0.787000	0.31911	0.995000	0.86356	2.429000	0.44758	1.424000	0.47217	0.655000	0.94253	GAA		PASS	0.468	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		13	76	13	76	---	---	---	---
TRIM39	56658	broad.mit.edu	37	6	30297303	30297303	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:30297303G>A	ENST00000396547.1	+	2	369	c.209G>A	c.(208-210)cGa>cAa	p.R70Q	TRIM39_ENST00000376656.4_Missense_Mutation_p.R70Q|TRIM39_ENST00000396551.3_Missense_Mutation_p.R70Q|HCG18_ENST00000413358.2_RNA|TRIM39_ENST00000396548.1_Missense_Mutation_p.R70Q|TRIM39_ENST00000540416.1_Missense_Mutation_p.R70Q|HCG18_ENST00000426882.1_RNA|TRIM39-RPP21_ENST00000513556.1_5'Flank|HCG18_ENST00000412685.2_RNA|TRIM39_ENST00000376659.5_Missense_Mutation_p.R70Q			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	70					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R70Q(1)		ovary(3)	3						CCTGTCTGTCGAAAGACATCC	0.552																																						uc010jrz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(208-210)CGA>CAA		tripartite motif-containing 39 isoform 1							126.0	108.0	115.0					6																	30297303		1511	2709	4220	SO:0001583	missense	56658				apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding	g.chr6:30297303G>A	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.209G>A	6.37:g.30297303G>A	ENSP00000379796:p.Arg70Gln					HCG18_uc003npx.2_5'Flank|HCG18_uc003npy.2_5'Flank|TRIM39_uc003npz.2_Missense_Mutation_p.R70Q|TRIM39_uc003nqb.2_Missense_Mutation_p.R70Q|TRIM39_uc003nqc.2_Missense_Mutation_p.R70Q|TRIM39_uc010jsa.1_Missense_Mutation_p.R70Q	p.R70Q	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN			3	521	+			70			RING-type.		Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	c.209G>A	CCDS34377.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.982270	0.53827	.	.	ENSG00000204599	ENST00000458516;ENST00000440271;ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000428728;ENST00000396548;ENST00000376659;ENST00000396547	D;D;D;D;D;T;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;1.91;-1.98;-1.98;-1.98	5.0	2.18	0.27775	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.000000	0.46758	D	0.000269	T	0.58206	0.2106	L	0.38692	1.165	0.09310	N	0.999996	D;B	0.63880	0.993;0.356	B;B	0.39771	0.309;0.18	T	0.54925	-0.8220	10	0.39692	T	0.17	.	5.4135	0.16360	0.1842:0.166:0.6498:0.0	.	70;70	Q9HCM9;Q9HCM9-2	TRI39_HUMAN;.	Q	70	ENSP00000405928:R70Q;ENSP00000394768:R70Q;ENSP00000379800:R70Q;ENSP00000365844:R70Q;ENSP00000439400:R70Q;ENSP00000406019:R70Q;ENSP00000379797:R70Q;ENSP00000365847:R70Q;ENSP00000379796:R70Q	ENSP00000365844:R70Q	R	+	2	0	TRIM39	30405282	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	4.075000	0.57584	0.682000	0.31407	0.561000	0.74099	CGA		PASS	0.552	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		35	126	35	126	---	---	---	---
SLC44A4	80736	broad.mit.edu	37	6	31833700	31833700	+	Silent	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:31833700G>C	ENST00000229729.6	-	14	1457	c.1437C>G	c.(1435-1437)ccC>ccG	p.P479P	SLC44A4_ENST00000544672.1_Silent_p.P403P|SLC44A4_ENST00000375562.4_Silent_p.P437P	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	479					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P479P(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGATGTCCTGGGGCTTGTGGA	0.632																																						uc010jti.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(1435-1437)CCC>CCG		choline transporter-like protein 4	Choline(DB00122)						60.0	60.0	60.0					6																	31833700		2203	4300	6503	SO:0001819	synonymous_variant	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31833700G>C	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.1437C>G	6.37:g.31833700G>C						NEU1_uc003nxq.3_5'Flank|NEU1_uc010jtg.2_5'Flank|NEU1_uc003nxr.3_5'Flank|NEU1_uc010jth.2_5'Flank|NEU1_uc003nxs.3_5'Flank	p.P479P	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN			14	1503	-			479			Cytoplasmic (Potential).		A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Silent	SNP	ENST00000229729.6	37	c.1437C>G	CCDS4724.2	.	.	.	.	.	.	.	.	.	.	G	8.056	0.767069	0.15983	.	.	ENSG00000204385	ENST00000414427	T	0.20881	2.04	5.21	1.84	0.25277	.	0.058720	0.64402	N	0.000001	T	0.20414	0.0491	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.02294	-1.1181	7	0.87932	D	0	-13.6742	9.1699	0.37074	0.2958:0.0:0.7042:0.0	.	.	.	.	R	363	ENSP00000398901:P363R	ENSP00000398901:P363R	P	-	2	0	SLC44A4	31941679	0.001000	0.12720	0.975000	0.42487	0.898000	0.52572	-0.102000	0.10956	0.523000	0.28482	0.655000	0.94253	CCC		PASS	0.632	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			11	70	11	70	---	---	---	---
PBX2	5089	broad.mit.edu	37	6	32155509	32155509	+	Missense_Mutation	SNP	T	T	A	rs202223627		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:32155509T>A	ENST00000375050.4	-	5	1055	c.785A>T	c.(784-786)tAt>tTt	p.Y262F	XXbac-BPG300A18.13_ENST00000559458.1_RNA	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	262					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Y262F(3)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GGAGTAGAAATACTCATTTAG	0.517																																						uc003oav.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(784-786)TAT>TTT		pre-B-cell leukemia homeobox 2																																				SO:0001583	missense	5089						transcription factor binding	g.chr6:32155509T>A		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.785A>T	6.37:g.32155509T>A	ENSP00000364190:p.Tyr262Phe					PBX2_uc003oaw.2_Missense_Mutation_p.Y262F	p.Y262F	NM_002586	NP_002577	P40425	PBX2_HUMAN			5	1056	-			262			Homeobox; TALE-type.		A2BFJ2	Missense_Mutation	SNP	ENST00000375050.4	37	c.785A>T	CCDS4748.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.841111	0.71488	.	.	ENSG00000204304	ENST00000375050	D	0.83673	-1.75	4.63	4.63	0.57726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.201957	0.34435	N	0.003969	T	0.61837	0.2379	N	0.10629	0.01	0.80722	D	1	P;P	0.42337	0.776;0.502	P;P	0.45232	0.474;0.458	T	0.71314	-0.4630	10	0.49607	T	0.09	-0.8351	12.0363	0.53427	0.0:0.0:0.0:1.0	.	262;262	Q7KZE5;P40425	.;PBX2_HUMAN	F	262	ENSP00000364190:Y262F	ENSP00000364190:Y262F	Y	-	2	0	PBX2	32263487	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.505000	0.81655	1.943000	0.56356	0.459000	0.35465	TAT		PASS	0.517	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			4	32	4	32	---	---	---	---
BRPF3	27154	broad.mit.edu	37	6	36175169	36175169	+	Missense_Mutation	SNP	C	C	T	rs202165998		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:36175169C>T	ENST00000357641.6	+	4	1938	c.1685C>T	c.(1684-1686)gCg>gTg	p.A562V	BRPF3_ENST00000443324.2_Missense_Mutation_p.A562V|BRPF3_ENST00000534694.1_Missense_Mutation_p.A562V|BRPF3_ENST00000534400.1_Missense_Mutation_p.A562V|BRPF3_ENST00000339717.7_Missense_Mutation_p.A562V|BRPF3_ENST00000543502.1_Missense_Mutation_p.A562V	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	562					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.A562V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TTGGAGCGGGCGCGGCTGCTG	0.562																																						uc003olv.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1684-1686)GCG>GTG		bromodomain and PHD finger containing, 3		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	57.0	52.0	54.0		1685	4.4	1.0	6		54	0,8600		0,0,4300	no	missense	BRPF3	NM_015695.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	562/1206	36175169	1,13005	2203	4300	6503	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.chr6:36175169C>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.1685C>T	6.37:g.36175169C>T	ENSP00000350267:p.Ala562Val					BRPF3_uc010jwb.2_Missense_Mutation_p.A562V|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Missense_Mutation_p.A562V	p.A562V	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN			4	1909	+			562					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.1685C>T	CCDS34437.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	22.5	4.300193	0.81136	2.27E-4	0.0	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400	T;T;T;T;T;T	0.18960	2.4;2.46;2.45;2.46;2.45;2.18	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.22360	0.0539	N	0.17474	0.49	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.987;0.991;0.995	T	0.21042	-1.0257	10	0.62326	D	0.03	.	17.4519	0.87594	0.0:1.0:0.0:0.0	.	562;562;562	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	V	562	ENSP00000350267:A562V;ENSP00000345419:A562V;ENSP00000434501:A562V;ENSP00000445352:A562V;ENSP00000387368:A562V;ENSP00000436504:A562V	ENSP00000345419:A562V	A	+	2	0	BRPF3	36283147	1.000000	0.71417	0.970000	0.41538	0.988000	0.76386	7.694000	0.84235	2.201000	0.70794	0.655000	0.94253	GCG		PASS	0.562	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		4	52	4	52	---	---	---	---
KIF6	221458	broad.mit.edu	37	6	39353422	39353422	+	Missense_Mutation	SNP	G	G	A	rs139112928	byFrequency	TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:39353422G>A	ENST00000287152.7	-	16	1931	c.1837C>T	c.(1837-1839)Cgg>Tgg	p.R613W	KIF6_ENST00000229913.5_Missense_Mutation_p.R64W|KIF6_ENST00000373216.3_Missense_Mutation_p.R613W|KIF6_ENST00000373215.3_Intron|KIF6_ENST00000394362.1_Missense_Mutation_p.R64W|KIF6_ENST00000538893.1_Missense_Mutation_p.R557W|KIF6_ENST00000541946.1_Missense_Mutation_p.R64W|KIF6_ENST00000373213.4_Missense_Mutation_p.R452W	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	613					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R613W(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGTATATGCCGCTGGGTGATT	0.468													G|||	2	0.000399361	0.0	0.0	5008	,	,		17500	0.0		0.001	False		,,,				2504	0.001					uc003oot.2																			2	Substitution - Missense(2)		lung(2)	breast(2)|central_nervous_system(1)	3						c.(1837-1839)CGG>TGG		kinesin family member 6		G	TRP/ARG	0,4406		0,0,2203	121.0	114.0	116.0		1837	0.4	1.0	6	dbSNP_134	116	3,8597	3.0+/-9.4	0,3,4297	yes	missense	KIF6	NM_145027.4	101	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	613/815	39353422	3,13003	2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39353422G>A	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1837C>T	6.37:g.39353422G>A	ENSP00000287152:p.Arg613Trp					KIF6_uc003oos.2_Missense_Mutation_p.R64W|KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Missense_Mutation_p.R404W|KIF6_uc011dua.1_Intron|KIF6_uc010jxb.1_Missense_Mutation_p.R557W	p.R613W	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN			16	1932	-			613			Potential.		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.1837C>T	CCDS4844.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	19.09	3.760680	0.69763	0.0	3.49E-4	ENSG00000164627	ENST00000287152;ENST00000394362;ENST00000373216;ENST00000373213;ENST00000229913;ENST00000538893;ENST00000541946;ENST00000540362	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.73	0.423	0.16463	.	.	.	.	.	T	0.40839	0.1133	L	0.61218	1.895	0.37614	D	0.921045	D;D;B	0.89917	1.0;0.999;0.059	D;P;B	0.72075	0.976;0.827;0.01	T	0.40887	-0.9539	9	0.87932	D	0	.	4.4564	0.11645	0.0749:0.1226:0.3222:0.4803	.	557;613;613	F6VGH2;Q6ZMV9-3;Q6ZMV9	.;.;KIF6_HUMAN	W	613;64;613;452;64;557;64;64	ENSP00000287152:R613W;ENSP00000377889:R64W;ENSP00000362312:R613W;ENSP00000362309:R452W;ENSP00000229913:R64W;ENSP00000441435:R557W;ENSP00000439064:R64W	ENSP00000229913:R64W	R	-	1	2	KIF6	39461400	1.000000	0.71417	0.999000	0.59377	0.786000	0.44442	1.070000	0.30653	0.125000	0.18397	-0.147000	0.13772	CGG		PASS	0.468	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		4	130	4	130	---	---	---	---
RHAG	6005	broad.mit.edu	37	6	49582568	49582568	+	Splice_Site	SNP	T	T	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:49582568T>C	ENST00000371175.4	-	5	667		c.e5-2		RHAG_ENST00000229810.7_Splice_Site	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein						ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.?(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					AGAGAGTCCCTGTAGTGAACC	0.398																																					Ovarian(176;476 2003 7720 43408 44749)	uc003ozk.3																			1	Unknown(1)		lung(1)	breast(1)|skin(1)	2						c.e5-1		Rh-associated glycoprotein							105.0	102.0	103.0					6																	49582568		2203	4300	6503	SO:0001630	splice_region_variant	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49582568T>C		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.641-2A>G	6.37:g.49582568T>C						RHAG_uc010jzl.2_Splice_Site_p.G214_splice|RHAG_uc010jzm.2_Splice_Site_p.G214_splice	p.G214_splice	NM_000324	NP_000315	Q02094	RHAG_HUMAN			5	703	-	Lung NSC(77;0.0255)							B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Splice_Site	SNP	ENST00000371175.4	37	c.641_splice	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	T	19.45	3.830795	0.71258	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2682	0.73678	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RHAG	49690527	1.000000	0.71417	0.989000	0.46669	0.722000	0.41435	8.040000	0.89188	2.202000	0.70862	0.533000	0.62120	.		PASS	0.398	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1		Intron	82	8	82	8	---	---	---	---
DEFB110	245913	broad.mit.edu	37	6	49989594	49989594	+	Splice_Site	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:49989594C>G	ENST00000371148.2	-	1	100	c.55G>C	c.(55-57)Gcc>Ccc	p.A19P	DEFB110_ENST00000393660.2_Splice_Site_p.A19P	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	19					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.A19P(2)		endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					TGCATATTACCTGGTAAAATT	0.299																																						uc003pac.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(55-57)GCC>CCC		beta-defensin 110 isoform a							33.0	37.0	36.0					6																	49989594		2201	4297	6498	SO:0001630	splice_region_variant	245913				defense response to bacterium	extracellular region		g.chr6:49989594C>G	DQ012014, BC148541	CCDS43473.1, CCDS34475.1	6p12.3	2010-11-26	2010-11-26		ENSG00000203970	ENSG00000203970		"""Defensins, beta"""	18091	protein-coding gene	gene with protein product			"""defensin, beta 110"""			11854508, 16033865	Standard	NM_001037728		Approved	DEFB-10, DEFB-11, DEFB111	uc003pac.3	Q30KQ9	OTTHUMG00000160208	ENST00000371148.2:c.55+1G>C	6.37:g.49989594C>G						DEFB110_uc011dwr.1_Missense_Mutation_p.A19P	p.A19P	NM_001037497	NP_001032586	Q30KQ9	DB110_HUMAN			1	101	-	Lung NSC(77;0.042)		19					Q30KR0	Missense_Mutation	SNP	ENST00000371148.2	37	c.55G>C	CCDS34475.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225842	0.39300	.	.	ENSG00000203970	ENST00000393660;ENST00000371148	T	0.24151	1.87	4.64	4.64	0.57946	.	0.162995	0.29342	N	0.012424	T	0.30854	0.0778	.	.	.	0.35039	D	0.759558	D;D	0.64830	0.99;0.994	P;P	0.58013	0.776;0.831	T	0.04855	-1.0922	8	.	.	.	-0.8135	13.2057	0.59795	0.0:1.0:0.0:0.0	.	19;19	Q30KQ9-2;Q30KQ9	.;DB110_HUMAN	P	19	ENSP00000377270:A19P	.	A	-	1	0	DEFB110	50097553	1.000000	0.71417	1.000000	0.80357	0.167000	0.22549	1.754000	0.38369	2.569000	0.86673	0.467000	0.42956	GCC		PASS	0.299	DEFB110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359664.1	NM_001037728	Missense_Mutation	41	16	41	16	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51695669	51695669	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:51695669G>A	ENST00000371117.3	-	52	8567	c.8292C>T	c.(8290-8292)ctC>ctT	p.L2764L	PKHD1_ENST00000340994.4_Silent_p.L2764L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2764	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.L2764L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGGTAAAATGAGAACGTCAT	0.433																																						uc003pah.1																			2	Substitution - coding silent(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(8290-8292)CTC>CTT		fibrocystin isoform 1							124.0	112.0	116.0					6																	51695669		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51695669G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8292C>T	6.37:g.51695669G>A						PKHD1_uc010jzn.1_Silent_p.L747L|PKHD1_uc003pai.2_Silent_p.L2764L	p.L2764L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			52	8568	-	Lung NSC(77;0.0605)		2764			G8 2.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.8292C>T	CCDS4935.1																																																																																				PASS	0.433	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		42	130	42	130	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51771044	51771044	+	Missense_Mutation	SNP	G	G	C	rs140065359	byFrequency	TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:51771044G>C	ENST00000371117.3	-	41	7052	c.6777C>G	c.(6775-6777)ttC>ttG	p.F2259L	PKHD1_ENST00000340994.4_Missense_Mutation_p.F2259L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2259					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.F2259L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAATATTGTAGAATACATTAC	0.438																																						uc003pah.1																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(6775-6777)TTC>TTG		fibrocystin isoform 1							80.0	79.0	79.0					6																	51771044		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51771044G>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6777C>G	6.37:g.51771044G>C	ENSP00000360158:p.Phe2259Leu					PKHD1_uc010jzn.1_Intron|PKHD1_uc003pai.2_Missense_Mutation_p.F2259L	p.F2259L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			41	7053	-	Lung NSC(77;0.0605)		2259			PbH1 2.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.6777C>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457016	0.26161	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.79033	-1.23;-1.23	5.49	3.68	0.42216	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.000000	0.85682	D	0.000000	T	0.49389	0.1554	L	0.43701	1.375	0.27343	N	0.956451	B;B	0.26120	0.033;0.142	B;B	0.23419	0.022;0.046	T	0.22800	-1.0206	10	0.15952	T	0.53	.	9.934	0.41539	0.1441:0.0:0.8559:0.0	.	2259;2259	P08F94-2;P08F94	.;PKHD1_HUMAN	L	2259	ENSP00000360158:F2259L;ENSP00000341097:F2259L	ENSP00000341097:F2259L	F	-	3	2	PKHD1	51879003	1.000000	0.71417	0.994000	0.49952	0.534000	0.34807	1.234000	0.32660	2.564000	0.86499	0.655000	0.94253	TTC		PASS	0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		29	116	29	116	---	---	---	---
PAQR8	85315	broad.mit.edu	37	6	52268234	52268234	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:52268234G>A	ENST00000442253.2	+	2	397	c.223G>A	c.(223-225)Gag>Aag	p.E75K	PAQR8_ENST00000360726.3_Missense_Mutation_p.E75K	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	75					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)	p.E75K(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					GAAACACAACGAGGTGGTCAA	0.617																																						uc003pao.3																			1	Substitution - Missense(1)		lung(1)		0						c.(223-225)GAG>AAG		progestin and adipoQ receptor family member							77.0	79.0	78.0					6																	52268234		2203	4300	6503	SO:0001583	missense	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268234G>A	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.223G>A	6.37:g.52268234G>A	ENSP00000406197:p.Glu75Lys						p.E75K	NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN			2	397	+	Lung NSC(77;0.0875)		75			Cytoplasmic (Potential).		B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Missense_Mutation	SNP	ENST00000442253.2	37	c.223G>A	CCDS4941.1	.	.	.	.	.	.	.	.	.	.	G	34	5.299332	0.95574	.	.	ENSG00000170915	ENST00000512121;ENST00000442253;ENST00000360726	T;T;T	0.78126	-1.15;0.98;0.98	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.89308	0.6678	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91286	0.5055	10	0.87932	D	0	-0.0515	17.9429	0.89030	0.0:0.0:1.0:0.0	.	75	Q8TEZ7	MPRB_HUMAN	K	75	ENSP00000427161:E75K;ENSP00000406197:E75K;ENSP00000353953:E75K	ENSP00000353953:E75K	E	+	1	0	PAQR8	52376193	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	9.869000	0.99810	2.485000	0.83878	0.655000	0.94253	GAG		PASS	0.617	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		9	123	9	123	---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	73000470	73000470	+	Missense_Mutation	SNP	T	T	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:73000470T>C	ENST00000521978.1	+	25	3643	c.3643T>C	c.(3643-3645)Tca>Cca	p.S1215P	RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000425662.2_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1215					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.S1215P(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)				TCCTGCTCGCTCAAGGTCGAG	0.527																																						uc003pga.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)	10						c.(3643-3645)TCA>CCA		regulating synaptic membrane exocytosis 1							85.0	87.0	87.0					6																	73000470		2046	4194	6240	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.chr6:73000470T>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.3643T>C	6.37:g.73000470T>C	ENSP00000428417:p.Ser1215Pro					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_Intron|RIMS1_uc003pge.2_Intron|RIMS1_uc011dye.1_Intron|RIMS1_uc011dyf.1_Intron	p.S1215P	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			25	3720	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1215					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.3643T>C	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.065775	0.55539	.	.	ENSG00000079841	ENST00000521978	T	0.16073	2.37	5.85	4.66	0.58398	.	0.155851	0.30168	N	0.010257	T	0.06005	0.0156	N	0.24115	0.695	0.80722	D	1	P	0.37466	0.596	B	0.40410	0.328	T	0.31558	-0.9939	10	0.33940	T	0.23	-12.4212	10.7221	0.46046	0.1421:0.0:0.0:0.8579	.	1215	Q86UR5	RIMS1_HUMAN	P	1215	ENSP00000428417:S1215P	ENSP00000428417:S1215P	S	+	1	0	RIMS1	73057191	1.000000	0.71417	0.986000	0.45419	0.884000	0.51177	5.400000	0.66320	0.995000	0.38917	0.533000	0.62120	TCA		PASS	0.527	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			10	68	10	68	---	---	---	---
CD109	135228	broad.mit.edu	37	6	74492445	74492445	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:74492445C>T	ENST00000287097.5	+	18	2184	c.2072C>T	c.(2071-2073)cCa>cTa	p.P691L	CD109_ENST00000422508.2_Missense_Mutation_p.P614L|CD109_ENST00000437994.2_Missense_Mutation_p.P691L			Q6YHK3	CD109_HUMAN	CD109 molecule	691	Bait region (approximate). {ECO:0000250}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.P691L(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAGCATTTTCCAGAGACTTGG	0.363																																						uc003php.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)	4						c.(2071-2073)CCA>CTA		CD109 antigen isoform 1 precursor							141.0	133.0	136.0					6																	74492445		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74492445C>T	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2072C>T	6.37:g.74492445C>T	ENSP00000287097:p.Pro691Leu					CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Missense_Mutation_p.P691L|CD109_uc010kba.2_Missense_Mutation_p.P614L	p.P691L	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN			18	2497	+			691			Bait region (approximate) (By similarity).		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.2072C>T	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610950	0.87258	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.37058	1.22;1.47;1.23	4.58	4.58	0.56647	.	0.195509	0.43747	D	0.000522	T	0.38401	0.1039	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.992;0.999;0.994	T	0.46789	-0.9166	10	0.87932	D	0	.	17.9462	0.89039	0.0:1.0:0.0:0.0	.	614;691;691	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	L	691;614;691	ENSP00000388062:P691L;ENSP00000404475:P614L;ENSP00000287097:P691L	ENSP00000287097:P691L	P	+	2	0	CD109	74549166	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.171000	0.71926	2.532000	0.85374	0.650000	0.86243	CCA		PASS	0.363	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		15	213	15	213	---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76576653	76576653	+	Missense_Mutation	SNP	A	A	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:76576653A>T	ENST00000369977.3	+	18	1914	c.1775A>T	c.(1774-1776)cAg>cTg	p.Q592L	MYO6_ENST00000369985.4_Missense_Mutation_p.Q592L|MYO6_ENST00000369981.3_Missense_Mutation_p.Q592L|snoU13_ENST00000459013.1_RNA|MYO6_ENST00000369975.1_Missense_Mutation_p.Q592L|RNA5SP209_ENST00000411237.1_RNA	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	592	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.Q592L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TTTCAGACCCAGTTTGTGGAG	0.338																																						uc003pih.1																			1	Substitution - Missense(1)		lung(1)	kidney(1)|pancreas(1)	2						c.(1774-1776)CAG>CTG		myosin VI							66.0	68.0	68.0					6																	76576653		2202	4300	6502	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76576653A>T	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.1775A>T	6.37:g.76576653A>T	ENSP00000358994:p.Gln592Leu					MYO6_uc003pig.1_Missense_Mutation_p.Q592L|MYO6_uc003pii.1_Missense_Mutation_p.Q592L	p.Q592L	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	18	2054	+		all_hematologic(105;0.189)	592			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.1775A>T	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324489	0.41197	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	5.61	5.61	0.85477	.	0.103073	0.64402	D	0.000002	T	0.38480	0.1042	N	0.25992	0.78	0.80722	D	1	B;B	0.27380	0.129;0.177	B;B	0.23275	0.014;0.045	T	0.43048	-0.9415	10	0.07644	T	0.81	.	16.101	0.81172	1.0:0.0:0.0:0.0	.	592;592	Q9UM54-2;Q9UM54-1	.;.	L	592	ENSP00000358998:Q592L;ENSP00000359002:Q592L;ENSP00000358994:Q592L;ENSP00000358992:Q592L	ENSP00000358992:Q592L	Q	+	2	0	MYO6	76633373	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.726000	0.74758	2.263000	0.75096	0.528000	0.53228	CAG		PASS	0.338	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		65	6	65	6	---	---	---	---
SNAP91	9892	broad.mit.edu	37	6	84333044	84333044	+	Missense_Mutation	SNP	T	T	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:84333044T>A	ENST00000439399.2	-	9	1099	c.783A>T	c.(781-783)aaA>aaT	p.K261N	SNAP91_ENST00000369694.2_Missense_Mutation_p.K261N|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000521485.1_Missense_Mutation_p.K261N|SNAP91_ENST00000520302.1_Missense_Mutation_p.K261N|SNAP91_ENST00000428679.2_Missense_Mutation_p.K261N|SNAP91_ENST00000195649.6_Missense_Mutation_p.K261N|SNAP91_ENST00000521743.1_Missense_Mutation_p.K261N	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	261					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)	p.K261N(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GAATGTCACCTTTATCAATAC	0.328																																						uc011dze.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(781-783)AAA>AAT		synaptosomal-associated protein, 91kDa homolog							101.0	89.0	92.0					6																	84333044		1824	4077	5901	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84333044T>A	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.783A>T	6.37:g.84333044T>A	ENSP00000400459:p.Lys261Asn					SNAP91_uc003pkb.2_Missense_Mutation_p.K226N|SNAP91_uc003pkc.2_Missense_Mutation_p.K261N|SNAP91_uc003pkd.2_Intron|SNAP91_uc003pka.2_Missense_Mutation_p.K261N|SNAP91_uc011dzf.1_Missense_Mutation_p.K142N	p.K261N	NM_014841	NP_055656	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	9	1100	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	261					A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.783A>T	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.559975	0.86335	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000520302;ENST00000521743;ENST00000521931	T;T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39	5.46	5.46	0.80206	ANTH (1);Clathrin adaptor, phosphoinositide-binding, GAT-like (1);	0.000000	0.85682	D	0.000000	T	0.49712	0.1573	M	0.66560	2.04	0.80722	D	1	D;D;D	0.76494	0.983;0.999;0.983	D;D;D	0.83275	0.977;0.996;0.977	T	0.55805	-0.8083	10	0.87932	D	0	-10.0039	13.7636	0.62981	0.0:0.0:0.0:1.0	.	261;261;261	E5RI02;O60641;E1P549	.;AP180_HUMAN;.	N	261	ENSP00000429776:K261N;ENSP00000358708:K261N;ENSP00000400459:K261N;ENSP00000195649:K261N;ENSP00000412492:K261N;ENSP00000428511:K261N;ENSP00000428215:K261N;ENSP00000430071:K261N	ENSP00000195649:K261N	K	-	3	2	SNAP91	84389763	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.868000	0.63021	2.082000	0.62665	0.533000	0.62120	AAA		PASS	0.328	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			8	22	8	22	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90368550	90368550	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:90368550C>T	ENST00000369393.3	-	89	14915	c.14800G>A	c.(14800-14802)Gaa>Aaa	p.E4934K	MDN1_ENST00000428876.1_Missense_Mutation_p.E4934K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4934					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.E4934K(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTCTGACTTTCGTTCTGGTCG	0.483																																						uc003pnn.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(14800-14802)GAA>AAA		MDN1, midasin homolog							255.0	239.0	244.0					6																	90368550		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90368550C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14800G>A	6.37:g.90368550C>T	ENSP00000358400:p.Glu4934Lys						p.E4934K	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	89	14916	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4934					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.14800G>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303312	0.60195	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03745	3.82;3.82	4.85	4.85	0.62838	.	0.396441	0.25683	N	0.028987	T	0.01976	0.0062	L	0.36672	1.1	0.42311	D	0.992211	P	0.50943	0.94	B	0.38264	0.269	T	0.62215	-0.6901	10	0.42905	T	0.14	.	17.1336	0.86733	0.0:1.0:0.0:0.0	.	4934	Q9NU22	MDN1_HUMAN	K	4934	ENSP00000358400:E4934K;ENSP00000413970:E4934K	ENSP00000358400:E4934K	E	-	1	0	MDN1	90425271	0.995000	0.38212	0.483000	0.27378	0.221000	0.24807	3.517000	0.53443	2.406000	0.81754	0.557000	0.71058	GAA		PASS	0.483	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			8	403	8	403	---	---	---	---
PRDM13	59336	broad.mit.edu	37	6	100061957	100061957	+	Silent	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:100061957C>G	ENST00000369215.4	+	4	1751	c.1446C>G	c.(1444-1446)ctC>ctG	p.L482L		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	482					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.L482L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ATTACCCGCTCAAATTGCACT	0.652																																						uc003pqg.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1444-1446)CTC>CTG		PR domain containing 13							23.0	26.0	25.0					6																	100061957		1894	4094	5988	SO:0001819	synonymous_variant	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100061957C>G	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.1446C>G	6.37:g.100061957C>G							p.L482L	NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	4	1707	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	482					Q5TGC1|Q5TGC2	Silent	SNP	ENST00000369215.4	37	c.1446C>G	CCDS43487.1																																																																																				PASS	0.652	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			22	3	22	3	---	---	---	---
AK9	221264	broad.mit.edu	37	6	109871331	109871331	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:109871331G>A	ENST00000424296.2	-	25	3002	c.2926C>T	c.(2926-2928)Cat>Tat	p.H976Y	AK9_ENST00000355283.1_Missense_Mutation_p.H55Y|AK9_ENST00000341338.6_Missense_Mutation_p.H55Y	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	976					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)	p.H55Y(2)|p.H976Y(1)									TCCTCAGGATGCTCCAAAAAC	0.403																																						uc003ptn.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(2926-2928)CAT>TAT		adenylate kinase domain containing 1 isoform 1							130.0	124.0	126.0					6																	109871331		2203	4300	6503	SO:0001583	missense	221264				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	g.chr6:109871331G>A	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.2926C>T	6.37:g.109871331G>A	ENSP00000410186:p.His976Tyr					AKD1_uc011eat.1_Missense_Mutation_p.H55Y	p.H976Y	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN			25	3003	-			976					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.2926C>T	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274615	0.59649	.	.	ENSG00000155085	ENST00000424296;ENST00000355283;ENST00000341338	T;T;T	0.64260	-0.07;-0.05;-0.09	5.66	2.54	0.30619	YHS (1);	0.467897	0.20673	N	0.087792	T	0.37598	0.1009	L	0.51422	1.61	0.22389	N	0.999142	P;P	0.48911	0.868;0.917	B;B	0.42138	0.32;0.377	T	0.09684	-1.0663	9	.	.	.	.	9.7387	0.40404	0.0:0.1037:0.4264:0.47	.	55;976	Q5TCS8-5;Q5TCS8	.;AKD1_HUMAN	Y	976;55;55	ENSP00000410186:H976Y;ENSP00000347431:H55Y;ENSP00000344637:H55Y	.	H	-	1	0	AKD1	109978024	0.983000	0.35010	1.000000	0.80357	0.971000	0.66376	1.802000	0.38853	1.342000	0.45619	0.563000	0.77884	CAT		PASS	0.403	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		186	29	186	29	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117678018	117678018	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:117678018G>A	ENST00000368508.3	-	25	4113	c.3915C>T	c.(3913-3915)atC>atT	p.I1305I	ROS1_ENST00000368507.3_Silent_p.I1300I|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1305					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.I1305I(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGGTGTGACTGATAATACTGT	0.383			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - coding silent(2)		lung(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(3913-3915)ATC>ATT		proto-oncogene c-ros-1 protein precursor							172.0	151.0	158.0					6																	117678018		2203	4300	6503	SO:0001819	synonymous_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117678018G>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3915C>T	6.37:g.117678018G>A						ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.I1305I	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	25	4114	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1305			Extracellular (Potential).		Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	c.3915C>T	CCDS5116.1																																																																																				PASS	0.383	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			5	149	5	149	---	---	---	---
MCM9	254394	broad.mit.edu	37	6	119245043	119245043	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:119245043C>T	ENST00000316316.6	-	3	840	c.554G>A	c.(553-555)tGc>tAc	p.C185Y	MCM9_ENST00000316068.3_Missense_Mutation_p.C185Y	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	185					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.C185Y(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		GCCTGAGAGGCAAGTGAATTT	0.423																																						uc003pyh.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(553-555)TGC>TAC		minichromosome maintenance complex component 9							111.0	104.0	107.0					6																	119245043		2203	4300	6503	SO:0001583	missense	254394				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr6:119245043C>T	BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.554G>A	6.37:g.119245043C>T	ENSP00000314505:p.Cys185Tyr						p.C185Y	NM_153255	NP_694987	Q9NXL9	MCM9_HUMAN		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)	3	817	-		all_cancers(87;0.122)|all_epithelial(87;0.179)	185					B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	ENST00000316316.6	37	c.554G>A	CCDS56447.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451487	0.84209	.	.	ENSG00000111877	ENST00000316316;ENST00000316068	T;T	0.04119	3.7;3.7	5.78	4.9	0.64082	.	.	.	.	.	T	0.07728	0.0194	M	0.73598	2.24	0.58432	D	0.999998	D	0.67145	0.996	D	0.63597	0.916	T	0.17077	-1.0381	9	0.02654	T	1	.	16.2038	0.82105	0.1342:0.8658:0.0:0.0	.	185	Q9NXL9-2	.	Y	185	ENSP00000314505:C185Y;ENSP00000312870:C185Y	ENSP00000312870:C185Y	C	-	2	0	MCM9	119286742	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.487000	0.81328	1.425000	0.47237	-0.309000	0.09137	TGC		PASS	0.423	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255		6	118	6	118	---	---	---	---
CLVS2	134829	broad.mit.edu	37	6	123384862	123384862	+	Nonsense_Mutation	SNP	A	A	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:123384862A>T	ENST00000275162.5	+	6	2275	c.940A>T	c.(940-942)Aaa>Taa	p.K314*	CLVS2_ENST00000368438.1_Nonsense_Mutation_p.K168*	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	314					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.K314*(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ACGCATGGATAAAAATGAGGA	0.383																																						uc003pzi.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(940-942)AAA>TAA		retinaldehyde binding protein 1-like 2							156.0	142.0	147.0					6																	123384862		2203	4300	6503	SO:0001587	stop_gained	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123384862A>T	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.940A>T	6.37:g.123384862A>T	ENSP00000275162:p.Lys314*						p.K314*	NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN			6	1809	+			314					B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Nonsense_Mutation	SNP	ENST00000275162.5	37	c.940A>T	CCDS34525.1	.	.	.	.	.	.	.	.	.	.	A	31	5.064804	0.93898	.	.	ENSG00000146352	ENST00000275162;ENST00000368438	.	.	.	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.6283	15.9355	0.79704	1.0:0.0:0.0:0.0	.	.	.	.	X	314;168	.	ENSP00000275162:K314X	K	+	1	0	CLVS2	123426561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.302000	0.89953	2.234000	0.73211	0.533000	0.62120	AAA		PASS	0.383	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		105	13	105	13	---	---	---	---
EYA4	2070	broad.mit.edu	37	6	133783758	133783758	+	Splice_Site	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:133783758G>C	ENST00000367895.5	+	9	1044		c.e9-1		EYA4_ENST00000531901.1_Splice_Site|EYA4_ENST00000355167.3_Splice_Site|EYA4_ENST00000452339.2_Splice_Site|EYA4_ENST00000355286.6_Splice_Site|EYA4_ENST00000525849.1_Splice_Site|EYA4_ENST00000430974.2_Splice_Site|EYA4_ENST00000431403.2_Splice_Site	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4						anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)	p.?(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TTTCTGAACAGATTTGGGTGT	0.423																																					Melanoma(57;398 1237 3528 4702 7415)	uc003qec.3																			2	Unknown(2)		lung(2)	large_intestine(2)	2						c.e9-1		eyes absent 4 isoform a							80.0	77.0	78.0					6																	133783758		2203	4300	6503	SO:0001630	splice_region_variant	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133783758G>C	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.581-1G>C	6.37:g.133783758G>C						EYA4_uc011ecq.1_Splice_Site_p.D140_splice|EYA4_uc011ecr.1_Splice_Site_p.D140_splice|EYA4_uc003qed.3_Splice_Site_p.D194_splice|EYA4_uc003qee.3_Splice_Site_p.D171_splice|EYA4_uc011ecs.1_Splice_Site_p.D194_splice|uc003qef.1_Intron	p.D194_splice	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	9	1039	+	Colorectal(23;0.221)							B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Splice_Site	SNP	ENST00000367895.5	37	c.581_splice	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024185	0.75390	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.717	0.96124	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EYA4	133825451	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.476000	0.97823	2.667000	0.90743	0.650000	0.86243	.		PASS	0.423	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100	Intron	24	78	24	78	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136597180	136597180	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:136597180G>C	ENST00000531224.1	-	5	1735	c.1483C>G	c.(1483-1485)Cag>Gag	p.Q495E	BCLAF1_ENST00000353331.4_Missense_Mutation_p.Q493E|BCLAF1_ENST00000527536.1_Missense_Mutation_p.Q495E|BCLAF1_ENST00000527759.1_Missense_Mutation_p.Q493E|BCLAF1_ENST00000392348.2_Missense_Mutation_p.Q493E|BCLAF1_ENST00000530767.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	495					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.Q495E(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)		TCAGGTGACTGAGTTTCTTTC	0.393																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1483-1485)CAG>GAG		BCL2-associated transcription factor 1 isoform							185.0	195.0	192.0					6																	136597180		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.chr6:136597180G>C	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.1483C>G	6.37:g.136597180G>C	ENSP00000435210:p.Gln495Glu					BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Missense_Mutation_p.Q493E|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.Q493E	p.Q495E	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1736	-	Colorectal(23;0.24)		495					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1483C>G	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044323	0.36085	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6;2.6	5.22	5.22	0.72569	.	0.000000	0.56097	D	0.000022	T	0.05777	0.0151	N	0.22421	0.69	0.80722	D	1	B;P;B	0.51933	0.073;0.949;0.073	B;P;B	0.47251	0.111;0.542;0.111	T	0.03910	-1.0993	10	0.02654	T	1	-7.0642	19.2184	0.93786	0.0:0.0:1.0:0.0	.	493;493;495	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	E	495;493;495;493;493;495	ENSP00000435210:Q495E;ENSP00000229446:Q493E;ENSP00000435441:Q495E;ENSP00000434826:Q493E;ENSP00000376159:Q493E;ENSP00000431734:Q495E	ENSP00000229446:Q493E	Q	-	1	0	BCLAF1	136638873	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.800000	0.55537	2.628000	0.89032	0.454000	0.30748	CAG		PASS	0.393	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		13	487	13	487	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136599579	136599579	+	Missense_Mutation	SNP	G	G	A	rs557653345		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:136599579G>A	ENST00000531224.1	-	4	692	c.440C>T	c.(439-441)tCa>tTa	p.S147L	BCLAF1_ENST00000353331.4_Missense_Mutation_p.S145L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S147L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S145L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S145L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S147L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	147	Poly-Ser.				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.S147L(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)		ATATGGGGATGAAGAACGAGA	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		24357	0.0		0.0	False		,,,				2504	0.001				Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(439-441)TCA>TTA		BCL2-associated transcription factor 1 isoform							194.0	207.0	202.0					6																	136599579		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.chr6:136599579G>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.440C>T	6.37:g.136599579G>A	ENSP00000435210:p.Ser147Leu					BCLAF1_uc003qgw.1_Missense_Mutation_p.S147L|BCLAF1_uc003qgy.1_Missense_Mutation_p.S145L|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.S145L	p.S147L	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	693	-	Colorectal(23;0.24)		147			Poly-Ser.		A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.440C>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352129	0.61183	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.31510	1.89;1.77;1.8;1.49;1.86;1.77;1.64	5.64	5.64	0.86602	.	0.000000	0.52532	D	0.000069	T	0.45034	0.1322	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.57899	0.981;0.981;0.981;0.981	D;D;D;D	0.66351	0.943;0.943;0.943;0.943	T	0.35226	-0.9797	10	0.66056	D	0.02	-4.2525	19.6986	0.96043	0.0:0.0:1.0:0.0	.	145;145;147;147	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	L	147;145;147;147;145;145;147	ENSP00000435210:S147L;ENSP00000229446:S145L;ENSP00000435441:S147L;ENSP00000436501:S147L;ENSP00000434826:S145L;ENSP00000376159:S145L;ENSP00000431734:S147L	ENSP00000229446:S145L	S	-	2	0	BCLAF1	136641272	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.074000	0.76791	2.660000	0.90430	0.557000	0.71058	TCA		PASS	0.433	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		15	482	15	482	---	---	---	---
KATNA1	11104	broad.mit.edu	37	6	149919436	149919436	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:149919436G>A	ENST00000335647.5	-	7	983	c.939C>T	c.(937-939)atC>atT	p.I313I	KATNA1_ENST00000367411.2_Silent_p.I313I|KATNA1_ENST00000335643.8_Silent_p.I237I|KATNA1_ENST00000494504.1_5'UTR					katanin p60 (ATPase containing) subunit A 1									p.I313M(1)|p.I313I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		GGCGACTACAGATGGAGTCTA	0.413																																						uc003qmr.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		ovary(1)|lung(1)	skin(1)	1						c.(937-939)ATC>ATT		katanin p60 subunit A 1							103.0	102.0	103.0					6																	149919436		2203	4300	6503	SO:0001819	synonymous_variant	11104				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity	g.chr6:149919436G>A	AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"""ATPases / AAA-type"""	6216	protein-coding gene	gene with protein product		606696	"""katanin p60 (ATPase-containing) subunit A 1"""			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.939C>T	6.37:g.149919436G>A						KATNA1_uc003qms.2_Silent_p.I313I|KATNA1_uc003qmt.2_Silent_p.I237I|KATNA1_uc011eed.1_Silent_p.I237I	p.I313I	NM_007044	NP_008975	O75449	KTNA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)	7	984	-		Ovarian(120;0.0164)	313						Silent	SNP	ENST00000335647.5	37	c.939C>T	CCDS5217.1																																																																																				PASS	0.413	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042641.2	NM_007044		5	161	5	161	---	---	---	---
NOX3	50508	broad.mit.edu	37	6	155732410	155732410	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:155732410C>T	ENST00000159060.2	-	11	1495	c.1393G>A	c.(1393-1395)Gag>Aag	p.E465K		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	465					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.E465K(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TTCCCCTGCTCACTCATCCGT	0.428																																						uc003qqm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1393-1395)GAG>AAG		NADPH oxidase 3							77.0	70.0	72.0					6																	155732410		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155732410C>T	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1393G>A	6.37:g.155732410C>T	ENSP00000159060:p.Glu465Lys						p.E465K	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	11	1496	-		Breast(66;0.0183)	465			Cytoplasmic (Potential).		Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.1393G>A	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183227	0.57800	.	.	ENSG00000074771	ENST00000159060	D	0.95137	-3.62	5.83	5.83	0.93111	Ferric reductase, NAD binding (1);	0.000000	0.64402	D	0.000002	D	0.91580	0.7340	M	0.78223	2.4	0.37572	D	0.919463	B	0.24258	0.1	B	0.30029	0.11	D	0.90190	0.4249	10	0.72032	D	0.01	-22.8682	9.2503	0.37551	0.1457:0.7823:0.0:0.072	.	465	Q9HBY0	NOX3_HUMAN	K	465	ENSP00000159060:E465K	ENSP00000159060:E465K	E	-	1	0	NOX3	155774102	1.000000	0.71417	0.979000	0.43373	0.979000	0.70002	5.383000	0.66219	2.770000	0.95276	0.655000	0.94253	GAG		PASS	0.428	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			30	102	30	102	---	---	---	---
LPA	4018	broad.mit.edu	37	6	160969650	160969650	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:160969650G>T	ENST00000316300.5	-	31	5059	c.5015C>A	c.(5014-5016)aCa>aAa	p.T1672K	LPA_ENST00000447678.1_Missense_Mutation_p.T1672K			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4180	Kringle 15. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.T1672K(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CCAAGGGCCTGTATCGGCATC	0.522																																						uc003qtl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)	6						c.(5014-5016)ACA>AAA		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						73.0	81.0	78.0					6																	160969650		2203	4300	6503	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160969650G>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5015C>A	6.37:g.160969650G>T	ENSP00000321334:p.Thr1672Lys						p.T1672K	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	32	5135	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4180			Kringle 37.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.5015C>A	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	0	-2.798927	0.00076	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.64991	-0.13;-0.13	2.71	-5.41	0.02648	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	.	.	.	.	T	0.10165	0.0249	N	0.03253	-0.375	0.09310	N	1	B	0.32245	0.361	B	0.34722	0.188	T	0.15954	-1.0419	9	0.18710	T	0.47	.	2.017	0.03500	0.1239:0.1879:0.3864:0.3018	.	4180	P08519	APOA_HUMAN	K	1672	ENSP00000321334:T1672K;ENSP00000395608:T1672K	ENSP00000321334:T1672K	T	-	2	0	LPA	160889640	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.735000	0.04888	-2.027000	0.00932	-0.662000	0.03851	ACA		PASS	0.522	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		113	15	113	15	---	---	---	---
THBS2	7058	broad.mit.edu	37	6	169632236	169632236	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr6:169632236C>A	ENST00000366787.3	-	14	2239	c.1990G>T	c.(1990-1992)Gag>Tag	p.E664*	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	664	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.E664*(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TAGATGCACTCCGCGTGCTTG	0.622																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)	5						c.(1990-1992)GAG>TAG		thrombospondin 2 precursor							192.0	170.0	178.0					6																	169632236		2203	4300	6503	SO:0001587	stop_gained	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169632236C>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1990G>T	6.37:g.169632236C>A	ENSP00000355751:p.Glu664*						p.E664*	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	14	2238	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	664			EGF-like 3.		A6H8N1|A7E232|Q5RI52	Nonsense_Mutation	SNP	ENST00000366787.3	37	c.1990G>T	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	41	8.883827	0.98990	.	.	ENSG00000186340	ENST00000366787	.	.	.	4.21	3.34	0.38264	.	0.000000	0.41294	U	0.000915	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-49.1271	11.8411	0.52355	0.0:0.9136:0.0:0.0863	.	.	.	.	X	664	.	ENSP00000355751:E664X	E	-	1	0	THBS2	169374161	0.992000	0.36948	0.678000	0.29963	0.894000	0.52154	2.961000	0.49168	0.886000	0.36113	0.297000	0.19635	GAG		PASS	0.622	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		21	103	21	103	---	---	---	---
MICALL2	79778	broad.mit.edu	37	7	1481960	1481960	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:1481960G>C	ENST00000297508.7	-	7	1754	c.1579C>G	c.(1579-1581)Cag>Gag	p.Q527E	MICALL2_ENST00000405088.4_Missense_Mutation_p.Q315E	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	527	Mediates targeting to the cell plasma membrane. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)	p.Q527E(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GCGGATGCCTGAGAGGTACTG	0.667																																						uc003skj.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1579-1581)CAG>GAG		MICAL-like 2 isoform 1							101.0	100.0	101.0					7																	1481960		2203	4299	6502	SO:0001583	missense	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1481960G>C	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.1579C>G	7.37:g.1481960G>C	ENSP00000297508:p.Gln527Glu					MICALL2_uc003ski.3_Missense_Mutation_p.Q14E	p.Q527E	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	7	1726	-		Ovarian(82;0.0253)	527					D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	c.1579C>G	CCDS5324.1	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.373368	0.01214	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.67523	2.47;-0.27	3.61	-0.885	0.10593	.	2.664860	0.01847	U	0.035675	T	0.41766	0.1173	N	0.14661	0.345	0.09310	N	1	B;B	0.25105	0.118;0.118	B;B	0.19666	0.017;0.026	T	0.33803	-0.9854	10	0.02654	T	1	.	3.1969	0.06636	0.2246:0.0:0.3963:0.3791	.	527;315	Q8IY33;D3YTD2	MILK2_HUMAN;.	E	315;527	ENSP00000385928:Q315E;ENSP00000297508:Q527E	ENSP00000297508:Q527E	Q	-	1	0	MICALL2	1448486	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.538000	0.02204	-0.510000	0.06523	0.561000	0.74099	CAG		PASS	0.667	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		5	151	5	151	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21658823	21658823	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:21658823G>C	ENST00000409508.3	+	24	4391	c.4360G>C	c.(4360-4362)Gag>Cag	p.E1454Q	DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000328843.6_Missense_Mutation_p.E1459Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1459	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E1459Q(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						GGCGGTGAAAGAGCTGGGGAC	0.443									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(4375-4377)GAG>CAG		dynein, axonemal, heavy chain 11							63.0	66.0	65.0					7																	21658823		1949	4139	6088	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21658823G>C	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.4360G>C	7.37:g.21658823G>C	ENSP00000475939:p.Glu1454Gln						p.E1459Q	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			24	4406	+			1459			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.4375G>C		.	.	.	.	.	.	.	.	.	.	G	22.5	4.299467	0.81136	.	.	ENSG00000105877	ENST00000328843	T	0.75704	-0.96	5.62	5.62	0.85841	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	D	0.87629	0.6225	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88401	0.3015	9	0.72032	D	0.01	.	19.6702	0.95909	0.0:0.0:1.0:0.0	.	1459	Q96DT5	DYH11_HUMAN	Q	1459	ENSP00000330671:E1459Q	ENSP00000330671:E1459Q	E	+	1	0	DNAH11	21625348	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	9.332000	0.96446	2.665000	0.90641	0.650000	0.86243	GAG		PASS	0.443	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		30	17	30	17	---	---	---	---
NPC1L1	29881	broad.mit.edu	37	7	44561319	44561319	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:44561319G>A	ENST00000289547.4	-	12	3000	c.2945C>T	c.(2944-2946)tCg>tTg	p.S982L	NPC1L1_ENST00000381160.3_Missense_Mutation_p.S982L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.S936L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	982					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.S982L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACTGACGGTCGAGGGGCAGAA	0.587																																						uc003tlb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(2944-2946)TCG>TTG		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)						71.0	71.0	71.0					7																	44561319		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44561319G>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2945C>T	7.37:g.44561319G>A	ENSP00000289547:p.Ser982Leu					NPC1L1_uc003tlc.2_Missense_Mutation_p.S982L|NPC1L1_uc011kbw.1_Missense_Mutation_p.S936L|NPC1L1_uc003tla.2_5'Flank	p.S982L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			12	3001	-			982			Cytoplasmic (Potential).		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.2945C>T	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439750	0.63067	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.93604	-3.13;-3.14;-3.25	5.49	5.49	0.81192	.	0.072905	0.56097	D	0.000026	D	0.93080	0.7797	M	0.67517	2.055	0.48901	D	0.999727	P;P;D	0.64830	0.873;0.95;0.994	B;B;P	0.48840	0.225;0.372;0.592	D	0.91030	0.4863	10	0.11182	T	0.66	-10.3843	16.8538	0.86000	0.0:0.0:1.0:0.0	.	936;982;982	B7ZLE6;Q17RV5;D3DVK9	.;.;.	L	982;982;936	ENSP00000289547:S982L;ENSP00000370552:S982L;ENSP00000438033:S936L	ENSP00000289547:S982L	S	-	2	0	NPC1L1	44527844	1.000000	0.71417	0.949000	0.38748	0.062000	0.15995	8.339000	0.90041	2.586000	0.87340	0.655000	0.94253	TCG		PASS	0.587	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		53	50	53	50	---	---	---	---
OGDH	4967	broad.mit.edu	37	7	44737357	44737357	+	Silent	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:44737357G>T	ENST00000222673.5	+	17	2376	c.2334G>T	c.(2332-2334)ctG>ctT	p.L778L	OGDH_ENST00000439616.2_Silent_p.L628L|OGDH_ENST00000444676.1_Silent_p.L793L|OGDH_ENST00000449767.1_Silent_p.L774L|OGDH_ENST00000447398.1_Silent_p.L789L|OGDH_ENST00000543843.1_Silent_p.L729L	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	778					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.L778L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TCGTGTTGCTGCTGCCCCATG	0.602																																						uc003tln.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2332-2334)CTG>CTT		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						96.0	83.0	88.0					7																	44737357		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44737357G>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2334G>T	7.37:g.44737357G>T						OGDH_uc011kbx.1_Silent_p.L774L|OGDH_uc011kby.1_Silent_p.L628L|OGDH_uc003tlp.2_Silent_p.L789L|OGDH_uc011kbz.1_Silent_p.L573L	p.L778L	NM_002541	NP_002532	Q02218	ODO1_HUMAN			17	2443	+			778					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.2334G>T	CCDS34627.1																																																																																				PASS	0.602	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			74	12	74	12	---	---	---	---
PSPH	5723	broad.mit.edu	37	7	56079530	56079530	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:56079530G>A	ENST00000395471.3	-	8	1408	c.603C>T	c.(601-603)atC>atT	p.I201I	PSPH_ENST00000459834.1_5'UTR|PSPH_ENST00000275605.3_Silent_p.I201I			P78330	SERB_HUMAN	phosphoserine phosphatase	201					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)	p.I201I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTGTTGCCTGATCACATTTC	0.358																																						uc003trg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(601-603)ATC>ATT		phosphoserine phosphatase							98.0	84.0	89.0					7																	56079530		2203	4299	6502	SO:0001819	synonymous_variant	5723				L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	g.chr7:56079530G>A	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.603C>T	7.37:g.56079530G>A						PSPH_uc003trh.2_Silent_p.I201I|PSPH_uc003tri.2_Silent_p.I201I|PSPH_uc003trj.2_Silent_p.I230I	p.I201I	NM_004577	NP_004568	P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		7	966	-	Breast(14;0.214)		201					B2RCR5|Q7Z3S5	Silent	SNP	ENST00000395471.3	37	c.603C>T	CCDS5522.1																																																																																				PASS	0.358	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577		11	149	11	149	---	---	---	---
ASL	435	broad.mit.edu	37	7	65557787	65557787	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:65557787G>C	ENST00000304874.9	+	17	1385	c.1283G>C	c.(1282-1284)tGg>tCg	p.W428S	ASL_ENST00000464970.1_3'UTR|AC068533.7_ENST00000450043.1_Intron|ASL_ENST00000395332.3_Missense_Mutation_p.W428S|ASL_ENST00000380839.4_Missense_Mutation_p.W402S|ASL_ENST00000395331.3_Missense_Mutation_p.W408S	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	428					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)	p.W428S(1)		breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	ATCTGCGTGTGGGACTACGGG	0.692																																						uc003tuo.2																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1282-1284)TGG>TCG		argininosuccinate lyase isoform 1	L-Arginine(DB00125)						85.0	86.0	85.0					7																	65557787		2203	4300	6503	SO:0001583	missense	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65557787G>C		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.1283G>C	7.37:g.65557787G>C	ENSP00000307188:p.Trp428Ser					ASL_uc003tup.2_Missense_Mutation_p.W428S|ASL_uc003tur.2_Missense_Mutation_p.W402S|ASL_uc003tuq.2_Missense_Mutation_p.W408S	p.W428S	NM_000048	NP_000039	P04424	ARLY_HUMAN			17	1394	+			428					E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	ENST00000304874.9	37	c.1283G>C	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	g	16.51	3.143026	0.57044	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000395331	D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61	5.58	5.58	0.84498	L-Aspartase-like (1);	0.117593	0.64402	D	0.000007	D	0.94118	0.8114	M	0.82056	2.57	0.80722	D	1	D;D;D	0.69078	0.992;0.997;0.997	D;P;D	0.74674	0.98;0.908;0.984	D	0.94511	0.7718	10	0.87932	D	0	.	14.0906	0.64987	0.0:0.0:0.8399:0.1601	.	402;408;428	E9PE48;E7EMI0;P04424	.;.;ARLY_HUMAN	S	428;402;428;408	ENSP00000307188:W428S;ENSP00000370219:W402S;ENSP00000378741:W428S;ENSP00000378740:W408S	ENSP00000307188:W428S	W	+	2	0	ASL	65195222	1.000000	0.71417	1.000000	0.80357	0.213000	0.24496	6.437000	0.73421	2.622000	0.88805	0.491000	0.48974	TGG		PASS	0.692	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		7	220	7	220	---	---	---	---
RABGEF1	27342	broad.mit.edu	37	7	66240357	66240357	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:66240357C>T	ENST00000284957.5	+	3	400	c.323C>T	c.(322-324)tCt>tTt	p.S108F	KCTD7_ENST00000510829.2_Missense_Mutation_p.S108F|KCTD7_ENST00000380828.2_Missense_Mutation_p.S148F|RABGEF1_ENST00000450873.2_Missense_Mutation_p.S108F|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000437078.2_Missense_Mutation_p.S122F|RABGEF1_ENST00000439720.2_Missense_Mutation_p.S121F|KCTD7_ENST00000451741.2_Missense_Mutation_p.S108F			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	286					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)	p.S108F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						TTCAGTGCATCTTCCAGGGTC	0.458																																						uc011kee.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(364-366)TCT>TTT		RAB guanine nucleotide exchange factor (GEF) 1							66.0	64.0	65.0					7																	66240357		2203	4300	6503	SO:0001583	missense	27342				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	g.chr7:66240357C>T	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.323C>T	7.37:g.66240357C>T	ENSP00000284957:p.Ser108Phe					RABGEF1_uc003tvf.2_5'UTR|RABGEF1_uc003tvg.2_5'UTR|RABGEF1_uc010lag.2_Missense_Mutation_p.S108F|RABGEF1_uc003tvh.2_Missense_Mutation_p.S108F|RABGEF1_uc003tvi.2_5'UTR	p.S122F	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN			3	529	+			286					B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	37	c.365C>T	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	.	29.5	5.010231	0.93346	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.48836	1.47;0.81;0.81;0.81;0.81;0.8;0.8	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.62392	0.2424	L	0.50333	1.59	0.80722	D	1	D	0.71674	0.998	P	0.61940	0.896	T	0.64141	-0.6477	10	0.66056	D	0.02	-17.602	18.2088	0.89864	0.0:1.0:0.0:0.0	.	122	B4DZM7	.	F	153;148;108;108;108;108;108;121;122	ENSP00000370208:S148F;ENSP00000421124:S108F;ENSP00000398177:S108F;ENSP00000284957:S108F;ENSP00000415815:S108F;ENSP00000403429:S121F;ENSP00000390480:S122F	ENSP00000370207:S153F	S	+	2	0	RABGEF1;KCTD7	65877792	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.478000	0.81082	2.529000	0.85273	0.650000	0.86243	TCT		PASS	0.458	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504		61	104	61	104	---	---	---	---
WBSCR17	64409	broad.mit.edu	37	7	71135073	71135073	+	Silent	SNP	T	T	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:71135073T>C	ENST00000333538.5	+	8	2017	c.1383T>C	c.(1381-1383)aaT>aaC	p.N461N	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	461					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.N461N(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GAAGATACAATAATACCGTTG	0.433																																						uc003tvy.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(1381-1383)AAT>AAC		UDP-GalNAc:polypeptide							204.0	198.0	200.0					7																	71135073		2203	4300	6503	SO:0001819	synonymous_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71135073T>C	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1383T>C	7.37:g.71135073T>C						WBSCR17_uc003tvz.2_Silent_p.N160N	p.N461N	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			8	1383	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	461			Lumenal (Potential).		Q8NFV9|Q9NTA8	Silent	SNP	ENST00000333538.5	37	c.1383T>C	CCDS5540.1																																																																																				PASS	0.433	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		133	370	133	370	---	---	---	---
HIP1	3092	broad.mit.edu	37	7	75171274	75171274	+	Silent	SNP	C	C	A	rs375211454		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:75171274C>A	ENST00000336926.6	-	29	2942	c.2916G>T	c.(2914-2916)acG>acT	p.T972T	HIP1_ENST00000434438.2_Silent_p.T921T	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	972	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)	p.T974T(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TCTGTGTCAGCGTCATGCTTG	0.468			T	PDGFRB	CMML																																	uc003uds.1				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		1	Substitution - coding silent(1)		lung(1)	lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						c.(2914-2916)ACG>ACT		huntingtin interacting protein 1							187.0	167.0	174.0					7																	75171274		2203	4300	6503	SO:0001819	synonymous_variant	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75171274C>A	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2916G>T	7.37:g.75171274C>A						HIP1_uc011kfz.1_Silent_p.T798T	p.T972T	NM_005338	NP_005329	O00291	HIP1_HUMAN			29	2957	-			972			I/LWEQ.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Silent	SNP	ENST00000336926.6	37	c.2916G>T	CCDS34669.1																																																																																				PASS	0.468	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		205	117	205	117	---	---	---	---
CACNA2D1	781	broad.mit.edu	37	7	82072711	82072711	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:82072711G>T	ENST00000356253.5	-	1	320	c.65C>A	c.(64-66)tCg>tAg	p.S22*	CACNA2D1_ENST00000356860.3_Nonsense_Mutation_p.S22*|CACNA2D1_ENST00000423588.1_Nonsense_Mutation_p.S22*			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	22					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.S22*(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTCCTCCGACGAGGGGCCGAT	0.677																																						uc003uhr.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|pancreas(1)	6						c.(64-66)TCG>TAG		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						33.0	31.0	31.0					7																	82072711		2203	4300	6503	SO:0001587	stop_gained	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:82072711G>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.65C>A	7.37:g.82072711G>T	ENSP00000348589:p.Ser22*						p.S22*	NM_000722	NP_000713	P54289	CA2D1_HUMAN			1	321	-			22					Q17R45|Q9UD80|Q9UD81|Q9UD82	Nonsense_Mutation	SNP	ENST00000356253.5	37	c.65C>A		.	.	.	.	.	.	.	.	.	.	G	40	8.523370	0.98848	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	.	.	.	3.86	2.97	0.34412	.	0.935646	0.08672	N	0.910847	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5211	10.3932	0.44185	0.0997:0.0:0.9003:0.0	.	.	.	.	X	22	.	ENSP00000284088:S22X	S	-	2	0	CACNA2D1	81910647	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.783000	0.55409	0.597000	0.29811	0.313000	0.20887	TCG		PASS	0.677	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				4	15	4	15	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82579207	82579207	+	Missense_Mutation	SNP	C	C	T	rs377250953		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:82579207C>T	ENST00000333891.9	-	6	11034	c.10697G>A	c.(10696-10698)gGa>gAa	p.G3566E	PCLO_ENST00000423517.2_Missense_Mutation_p.G3566E|PCLO_ENST00000437081.1_Missense_Mutation_p.G286E	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.G3566E(2)|p.G3497E(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTTTGACATCCTAAACTGCC	0.443																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(10696-10698)GGA>GAA		piccolo isoform 1		C	GLU/GLY,GLU/GLY	0,3974		0,0,1987	183.0	174.0	177.0		10697,10697	5.7	1.0	7		177	1,8347		0,1,4173	no	missense,missense	PCLO	NM_014510.2,NM_033026.5	98,98	0,1,6160	TT,TC,CC		0.012,0.0,0.0081	probably-damaging,probably-damaging	3566/4936,3566/5143	82579207	1,12321	1987	4174	6161	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82579207C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10697G>A	7.37:g.82579207C>T	ENSP00000334319:p.Gly3566Glu					PCLO_uc003uhv.2_Missense_Mutation_p.G3566E|PCLO_uc010lec.2_Missense_Mutation_p.G531E	p.G3566E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			6	10986	-			3497						Missense_Mutation	SNP	ENST00000333891.9	37	c.10697G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933980	0.52866	0.0	1.2E-4	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.18810	2.19;2.19	5.72	5.72	0.89469	.	.	.	.	.	T	0.45074	0.1324	L	0.54323	1.7	0.43613	D	0.995987	D;D;D	0.76494	0.997;0.999;0.999	P;D;D	0.74023	0.84;0.982;0.982	T	0.27262	-1.0079	9	0.87932	D	0	.	19.8861	0.96913	0.0:1.0:0.0:0.0	.	3497;3566;3566	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	E	3497;3566;3566;286	ENSP00000334319:G3566E;ENSP00000388393:G3566E	ENSP00000334319:G3566E	G	-	2	0	PCLO	82417143	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.620000	0.61226	2.703000	0.92315	0.655000	0.94253	GGA		PASS	0.443	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		5	172	5	172	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88963696	88963696	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:88963696C>G	ENST00000333190.4	+	4	2009	c.1400C>G	c.(1399-1401)aCa>aGa	p.T467R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	467							metal ion binding (GO:0046872)	p.T467R(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTACAAAAACAGAACCCTGT	0.418										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(1399-1401)ACA>AGA		zinc finger protein 804B							68.0	64.0	65.0					7																	88963696		2200	4299	6499	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963696C>G	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1400C>G	7.37:g.88963696C>G	ENSP00000329638:p.Thr467Arg	HNSCC(36;0.09)					p.T467R	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1938	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		467					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.1400C>G	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909620	0.72868	.	.	ENSG00000182348	ENST00000333190	T	0.10382	2.88	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000002	T	0.31702	0.0805	M	0.78637	2.42	0.41986	D	0.990827	D	0.63880	0.993	P	0.56343	0.796	T	0.02539	-1.1144	10	0.87932	D	0	-8.2673	19.5755	0.95441	0.0:1.0:0.0:0.0	.	467	A4D1E1	Z804B_HUMAN	R	467	ENSP00000329638:T467R	ENSP00000329638:T467R	T	+	2	0	ZNF804B	88801632	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.327000	0.52045	2.865000	0.98341	0.655000	0.94253	ACA		PASS	0.418	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		7	133	7	133	---	---	---	---
PEX1	5189	broad.mit.edu	37	7	92146608	92146608	+	Silent	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:92146608G>C	ENST00000248633.4	-	5	1316	c.1221C>G	c.(1219-1221)ctC>ctG	p.L407L	PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Silent_p.L407L	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	407					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.L407L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCCCAAGATGGAGAACTTCTA	0.328																																						uc003uly.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1219-1221)CTC>CTG		peroxin1							114.0	117.0	116.0					7																	92146608		2201	4299	6500	SO:0001819	synonymous_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92146608G>C	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1221C>G	7.37:g.92146608G>C						PEX1_uc011khr.1_Silent_p.L199L|PEX1_uc010ley.2_Silent_p.L407L|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	p.L407L	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		5	1317	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	407					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Silent	SNP	ENST00000248633.4	37	c.1221C>G	CCDS5627.1																																																																																				PASS	0.328	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		42	288	42	288	---	---	---	---
RBM48	84060	broad.mit.edu	37	7	92166182	92166182	+	Silent	SNP	A	A	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:92166182A>T	ENST00000265732.5	+	5	1076	c.1035A>T	c.(1033-1035)ccA>ccT	p.P345P	RBM48_ENST00000481551.1_3'UTR	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	345						nucleus (GO:0005634)	RNA binding (GO:0003723)	p.P345P(1)									CATCTGTGCCAAAGCCTCCAG	0.328																																						uc003ulz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1033-1035)CCA>CCT		hypothetical protein LOC84060							34.0	30.0	31.0					7																	92166182		1798	4071	5869	SO:0001819	synonymous_variant	84060						nucleotide binding	g.chr7:92166182A>T	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"""RNA binding motif (RRM) containing"""	21785	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 64"""	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.1035A>T	7.37:g.92166182A>T						C7orf64_uc003uma.2_3'UTR|MGC16142_uc011khv.1_5'Flank	p.P345P	NM_032120	NP_115496	Q5RL73	CG064_HUMAN			5	1076	+			345					B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Silent	SNP	ENST00000265732.5	37	c.1035A>T	CCDS43615.1	.	.	.	.	.	.	.	.	.	.	A	0.434	-0.901752	0.02453	.	.	ENSG00000127993	ENST00000450580	.	.	.	5.31	1.42	0.22433	.	.	.	.	.	T	0.51770	0.1694	.	.	.	0.36240	D	0.85319	.	.	.	.	.	.	T	0.54543	-0.8278	5	0.46703	T	0.11	.	6.1849	0.20491	0.7169:0.1352:0.1479:0.0	.	.	.	.	L	345	.	ENSP00000401920:Q345L	Q	+	2	0	C7orf64	92004118	0.053000	0.20554	0.173000	0.22940	0.220000	0.24768	0.298000	0.19120	0.089000	0.17243	0.482000	0.46254	CAA		PASS	0.328	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120		15	12	15	12	---	---	---	---
PTCD1	26024	broad.mit.edu	37	7	99032607	99032607	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:99032607C>T	ENST00000292478.4	-	2	509	c.259G>A	c.(259-261)Gag>Aag	p.E87K	PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.E136K|ATP5J2-PTCD1_ENST00000437572.1_5'Flank|PTCD1_ENST00000555673.1_Missense_Mutation_p.E136K	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	87					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.E87K(1)		endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CCAAAACTCTCCTCCTCCTCC	0.602																																						uc003uqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(259-261)GAG>AAG		pentatricopeptide repeat domain 1							83.0	88.0	86.0					7																	99032607		2203	4300	6503	SO:0001583	missense	26024							g.chr7:99032607C>T	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.259G>A	7.37:g.99032607C>T	ENSP00000292478:p.Glu87Lys					PTCD1_uc011kiw.1_Missense_Mutation_p.E136K	p.E87K	NM_015545	NP_056360	O75127	PTCD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		2	390	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		87					Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	ENST00000292478.4	37	c.259G>A	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444526	0.63178	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000555673;ENST00000430982;ENST00000430029;ENST00000419981;ENST00000413834	T;T;D;D;D;T	0.85411	-0.21;-0.18;-1.81;-1.79;-1.98;-0.18	5.58	4.64	0.57946	.	0.304685	0.35466	N	0.003187	D	0.87034	0.6077	M	0.69823	2.125	0.37488	D	0.91626	P;P	0.49090	0.873;0.919	P;P	0.49047	0.599;0.534	D	0.87299	0.2304	10	0.30078	T	0.28	-17.004	15.2358	0.73430	0.1412:0.8588:0.0:0.0	.	136;87	G3V325;O75127	.;PTCD1_HUMAN	K	87;136;87;87;87;136	ENSP00000292478:E87K;ENSP00000450995:E136K;ENSP00000390530:E87K;ENSP00000408059:E87K;ENSP00000401600:E87K;ENSP00000400168:E136K	ENSP00000400168:E136K	E	-	1	0	ATP5J2-PTCD1;PTCD1	98870543	0.965000	0.33210	0.184000	0.23157	0.332000	0.28634	4.287000	0.59001	2.615000	0.88500	0.655000	0.94253	GAG		PASS	0.602	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		13	233	13	233	---	---	---	---
CNPY4	245812	broad.mit.edu	37	7	99720141	99720141	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:99720141G>C	ENST00000262932.3	+	3	415	c.283G>C	c.(283-285)Gag>Cag	p.E95Q	TAF6_ENST00000437822.2_5'Flank|CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	95						extracellular region (GO:0005576)		p.E95Q(1)		breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAATTTATGTGAGCGGATCCT	0.537																																						uc003uto.2																			1	Substitution - Missense(1)		lung(1)		0						c.(283-285)GAG>CAG		canopy 4 homolog precursor							120.0	128.0	125.0					7																	99720141		2203	4300	6503	SO:0001583	missense	245812					extracellular region		g.chr7:99720141G>C	AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"""protein associated with TLR4"""	610047	"""canopy 4 homolog (zebrafish)"""			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.283G>C	7.37:g.99720141G>C	ENSP00000262932:p.Glu95Gln					TAF6_uc011kji.1_5'Flank	p.E95Q	NM_152755	NP_689968	Q8N129	CNPY4_HUMAN			3	386	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		95					Q8WUN9	Missense_Mutation	SNP	ENST00000262932.3	37	c.283G>C	CCDS34701.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844528	0.71488	.	.	ENSG00000166997	ENST00000262932	T	0.39997	1.05	5.39	5.39	0.77823	.	0.114600	0.56097	D	0.000027	T	0.40595	0.1123	L	0.33624	1.015	0.48452	D	0.999658	P	0.47034	0.889	P	0.46758	0.526	T	0.25047	-1.0143	10	0.51188	T	0.08	-23.7388	14.6431	0.68739	0.0:0.0:1.0:0.0	.	95	Q8N129	CNPY4_HUMAN	Q	95	ENSP00000262932:E95Q	ENSP00000262932:E95Q	E	+	1	0	CNPY4	99558077	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.562000	0.60816	2.509000	0.84616	0.561000	0.74099	GAG		PASS	0.537	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4	NM_152755		5	310	5	310	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100684579	100684579	+	Silent	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:100684579C>G	ENST00000306151.4	+	3	9946	c.9882C>G	c.(9880-9882)gcC>gcG	p.A3294A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3294	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.A3294A(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACGGTGGCCAGTTCTGAAA	0.512																																						uc003uxp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(9880-9882)GCC>GCG		mucin 17 precursor							322.0	325.0	324.0					7																	100684579		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684579C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9882C>G	7.37:g.100684579C>G						MUC17_uc010lho.1_RNA	p.A3294A	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	9935	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3294			Extracellular (Potential).|Ser-rich.|53.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.9882C>G	CCDS34711.1																																																																																				PASS	0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		243	302	243	302	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100686484	100686484	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:100686484C>G	ENST00000306151.4	+	3	11851	c.11787C>G	c.(11785-11787)atC>atG	p.I3929M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3929					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.I3929M(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TATCAGTGATCACAGAAGGAA	0.478																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(11785-11787)ATC>ATG		mucin 17 precursor							169.0	165.0	166.0					7																	100686484		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100686484C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11787C>G	7.37:g.100686484C>G	ENSP00000302716:p.Ile3929Met					MUC17_uc010lho.1_RNA	p.I3929M	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	11840	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3929			Extracellular (Potential).		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.11787C>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	5.558	0.287736	0.10513	.	.	ENSG00000169876	ENST00000306151	T	0.02323	4.34	1.44	-2.46	0.06461	.	.	.	.	.	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	D	0.61697	0.99	P	0.59221	0.854	T	0.41197	-0.9522	9	0.46703	T	0.11	.	1.4048	0.02278	0.3273:0.2614:0.0:0.4113	.	3929	Q685J3	MUC17_HUMAN	M	3929	ENSP00000302716:I3929M	ENSP00000302716:I3929M	I	+	3	3	MUC17	100473204	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.750000	0.04808	-0.119000	0.11830	0.177000	0.17058	ATC		PASS	0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		68	187	68	187	---	---	---	---
CUX1	1523	broad.mit.edu	37	7	101837153	101837153	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:101837153G>A	ENST00000292535.7	+	13	1146	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K	CUX1_ENST00000360264.3_Missense_Mutation_p.E381K|CUX1_ENST00000549414.2_Missense_Mutation_p.E370K|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000556210.1_Missense_Mutation_p.E370K|CUX1_ENST00000550008.2_Missense_Mutation_p.E370K|CUX1_ENST00000547394.2_Missense_Mutation_p.E365K|CUX1_ENST00000425244.2_Missense_Mutation_p.E335K|CUX1_ENST00000546411.2_Missense_Mutation_p.E370K|CUX1_ENST00000292538.4_Missense_Mutation_p.E381K|SNORA48_ENST00000517015.1_RNA|CUX1_ENST00000393824.3_Missense_Mutation_p.E342K|CUX1_ENST00000437600.4_Missense_Mutation_p.E379K	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	370					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.E370K(1)|p.E381K(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGCACCGTCCGAGGGCGCTGG	0.532																																						uc003uyx.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(1108-1110)GAG>AAG		cut-like homeobox 1 isoform a							82.0	68.0	73.0					7																	101837153		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101837153G>A	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1108G>A	7.37:g.101837153G>A	ENSP00000292535:p.Glu370Lys					CUX1_uc003uys.3_Missense_Mutation_p.E381K|CUX1_uc003uyt.2_Missense_Mutation_p.E381K|CUX1_uc011kkn.1_Missense_Mutation_p.E342K|CUX1_uc003uyw.2_Missense_Mutation_p.E335K|CUX1_uc003uyv.2_Missense_Mutation_p.E365K|CUX1_uc003uyu.2_Missense_Mutation_p.E379K	p.E370K	NM_181552	NP_853530	P39880	CUX1_HUMAN			13	1146	+			370					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.1108G>A	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202156	0.79127	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T	0.60797	1.42;1.42;0.17;1.42;1.41;0.16;0.16;0.17;0.18;0.17	5.71	5.71	0.89125	.	0.053861	0.64402	D	0.000001	T	0.50888	0.1642	L	0.42245	1.32	0.54753	D	0.999988	B;D;P;P;D;B;D	0.56287	0.188;0.957;0.923;0.532;0.975;0.336;0.975	B;B;B;B;B;B;B	0.42851	0.021;0.16;0.084;0.079;0.4;0.053;0.304	T	0.49428	-0.8941	10	0.07325	T	0.83	-28.6951	19.8575	0.96767	0.0:0.0:1.0:0.0	.	342;370;335;365;379;381;381	B4DZZ2;P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;.;CASP_HUMAN;.	K	381;365;381;335;379;370;370;370;370;370	ENSP00000292538:E381K;ENSP00000449371:E365K;ENSP00000353401:E381K;ENSP00000409745:E335K;ENSP00000414091:E379K;ENSP00000292535:E370K;ENSP00000446630:E370K;ENSP00000447373:E370K;ENSP00000450125:E370K;ENSP00000451558:E370K	ENSP00000292535:E370K	E	+	1	0	CUX1	101623873	1.000000	0.71417	0.961000	0.40146	0.908000	0.53690	6.224000	0.72265	2.698000	0.92095	0.561000	0.74099	GAG		PASS	0.532	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		17	53	17	53	---	---	---	---
CTTNBP2	83992	broad.mit.edu	37	7	117432529	117432529	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:117432529G>C	ENST00000160373.3	-	4	812	c.721C>G	c.(721-723)Ctt>Gtt	p.L241V	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	241					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.L241V(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTGGCACGAAGCTGTTCCCGC	0.463																																						uc003vjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(721-723)CTT>GTT		cortactin binding protein 2							138.0	111.0	121.0					7																	117432529		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117432529G>C		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.721C>G	7.37:g.117432529G>C	ENSP00000160373:p.Leu241Val						p.L241V	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	813	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		241			Potential.		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.721C>G	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151387	0.57151	.	.	ENSG00000077063	ENST00000160373	T	0.77489	-1.1	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.89733	0.6800	M	0.90252	3.1	0.53688	D	0.999973	D	0.76494	0.999	D	0.85130	0.997	D	0.90965	0.4815	10	0.87932	D	0	0.1797	13.9985	0.64419	0.0781:0.0:0.9219:0.0	.	241	Q8WZ74	CTTB2_HUMAN	V	241	ENSP00000160373:L241V	ENSP00000160373:L241V	L	-	1	0	CTTNBP2	117219765	1.000000	0.71417	0.998000	0.56505	0.738000	0.42128	4.701000	0.61810	2.890000	0.99128	0.650000	0.86243	CTT		PASS	0.463	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		29	80	29	80	---	---	---	---
IQUB	154865	broad.mit.edu	37	7	123109393	123109393	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:123109393C>G	ENST00000466202.1	-	9	2032	c.1456G>C	c.(1456-1458)Gag>Cag	p.E486Q	IQUB_ENST00000434450.1_Missense_Mutation_p.E486Q|IQUB_ENST00000324698.6_Missense_Mutation_p.E486Q	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	486					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.E486Q(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GTATCCATCTCAATTGTTTTG	0.348																																						uc003vkn.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(1456-1458)GAG>CAG		IQ motif and ubiquitin domain containing							126.0	118.0	121.0					7																	123109393		2203	4300	6503	SO:0001583	missense	154865							g.chr7:123109393C>G	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1456G>C	7.37:g.123109393C>G	ENSP00000417769:p.Glu486Gln					IQUB_uc003vko.2_Missense_Mutation_p.E486Q|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Missense_Mutation_p.E486Q	p.E486Q	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN			9	2033	-			486					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	c.1456G>C	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889301	0.52014	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.52526	1.68;1.68;0.66	5.61	1.44	0.22558	.	0.364892	0.30639	N	0.009189	T	0.59742	0.2216	M	0.74647	2.275	0.20764	N	0.99985	D;D	0.63046	0.992;0.969	P;P	0.62014	0.897;0.656	T	0.49532	-0.8930	10	0.66056	D	0.02	.	7.8877	0.29659	0.1103:0.6109:0.2146:0.0641	.	486;486	Q8NA54-2;Q8NA54	.;IQUB_HUMAN	Q	486	ENSP00000417769:E486Q;ENSP00000324882:E486Q;ENSP00000388498:E486Q	ENSP00000324882:E486Q	E	-	1	0	IQUB	122896629	1.000000	0.71417	0.767000	0.31495	0.723000	0.41478	2.528000	0.45624	0.688000	0.31529	0.637000	0.83480	GAG		PASS	0.348	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		4	242	4	242	---	---	---	---
GPR37	2861	broad.mit.edu	37	7	124386653	124386653	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:124386653C>T	ENST00000303921.2	-	2	2418	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	590					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)	p.E590K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGTTCGAGTTCCGTGGTGTAC	0.498																																						uc003vli.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1768-1770)GAA>AAA		G protein-coupled receptor 37 precursor							185.0	157.0	166.0					7																	124386653		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124386653C>T		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1768G>A	7.37:g.124386653C>T	ENSP00000306449:p.Glu590Lys						p.E590K	NM_005302	NP_005293	O15354	GPR37_HUMAN			2	2419	-			590			Cytoplasmic (Potential).		A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.1768G>A	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603138	0.66445	.	.	ENSG00000170775	ENST00000303921	T	0.71698	-0.59	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000017	T	0.79707	0.4492	L	0.49126	1.545	0.58432	D	0.999998	D	0.69078	0.997	D	0.65874	0.939	T	0.77395	-0.2604	10	0.34782	T	0.22	-19.9138	18.0541	0.89358	0.0:1.0:0.0:0.0	.	590	O15354	GPR37_HUMAN	K	590	ENSP00000306449:E590K	ENSP00000306449:E590K	E	-	1	0	GPR37	124173889	1.000000	0.71417	0.991000	0.47740	0.228000	0.25075	6.848000	0.75409	2.489000	0.83994	0.655000	0.94253	GAA		PASS	0.498	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		44	201	44	201	---	---	---	---
GPR37	2861	broad.mit.edu	37	7	124404585	124404585	+	Nonsense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:124404585G>C	ENST00000303921.2	-	1	1096	c.446C>G	c.(445-447)tCa>tGa	p.S149*		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	149					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)	p.S149*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCCTCCTCTGAGATCTGAAG	0.607																																						uc003vli.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(445-447)TCA>TGA		G protein-coupled receptor 37 precursor							69.0	81.0	77.0					7																	124404585		2203	4300	6503	SO:0001587	stop_gained	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124404585G>C		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.446C>G	7.37:g.124404585G>C	ENSP00000306449:p.Ser149*						p.S149*	NM_005302	NP_005293	O15354	GPR37_HUMAN			1	1097	-			149			Extracellular (Potential).		A4D0Y6|O00348|O14768|Q8TD39	Nonsense_Mutation	SNP	ENST00000303921.2	37	c.446C>G	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	G	40	8.094803	0.98651	.	.	ENSG00000170775	ENST00000303921	.	.	.	4.69	4.69	0.59074	.	0.138802	0.49305	D	0.000148	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-4.9153	13.4282	0.61039	0.0:0.0:1.0:0.0	.	.	.	.	X	149	.	ENSP00000306449:S149X	S	-	2	0	GPR37	124191821	0.000000	0.05858	0.533000	0.28001	0.385000	0.30292	0.324000	0.19610	2.885000	0.99019	0.655000	0.94253	TCA		PASS	0.607	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		11	314	11	314	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126173442	126173442	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:126173442G>T	ENST00000339582.2	-	9	2802	c.1994C>A	c.(1993-1995)gCc>gAc	p.A665D	GRM8_ENST00000444921.2_Missense_Mutation_p.A665D|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.A665D			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	665					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.A665D(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)				GGTCAGAAGGGCTGCATAGCT	0.458										HNSCC(24;0.065)																												uc003vlr.2																			1	Substitution - Missense(1)		lung(1)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1993-1995)GCC>GAC		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						94.0	88.0	90.0					7																	126173442		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173442G>T		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.1994C>A	7.37:g.126173442G>T	ENSP00000344173:p.Ala665Asp	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.A665D|GRM8_uc010lkz.1_RNA	p.A665D	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	2305	-		Prostate(267;0.186)	665			Helical; Name=3; (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1994C>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831636	0.91036	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.89415	-2.51;-2.51;-2.51	5.75	5.75	0.90469	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95893	0.8663	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;0.98	D;D	0.87578	0.998;0.936	D	0.96304	0.9223	10	0.87932	D	0	.	18.9383	0.92595	0.0:0.0:1.0:0.0	.	665;665	O00222-2;O00222	.;GRM8_HUMAN	D	665	ENSP00000344173:A665D;ENSP00000409790:A665D;ENSP00000351142:A665D	ENSP00000344173:A665D	A	-	2	0	GRM8	125960678	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.732000	0.93576	0.655000	0.94253	GCC		PASS	0.458	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			25	93	25	93	---	---	---	---
GCC1	79571	broad.mit.edu	37	7	127222464	127222464	+	Silent	SNP	T	T	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:127222464T>C	ENST00000321407.2	-	2	2356	c.1932A>G	c.(1930-1932)caA>caG	p.Q644Q	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	644					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.Q644Q(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCGCTGCAAGTTGTAATGCTT	0.587																																						uc003vma.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1930-1932)CAA>CAG		Golgi coiled-coil protein 1							119.0	117.0	118.0					7																	127222464		2203	4300	6503	SO:0001819	synonymous_variant	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127222464T>C	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1932A>G	7.37:g.127222464T>C							p.Q644Q	NM_024523	NP_078799	Q96CN9	GCC1_HUMAN			2	2350	-			644			Potential.		Q9H6N7	Silent	SNP	ENST00000321407.2	37	c.1932A>G	CCDS5796.1																																																																																				PASS	0.587	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		94	58	94	58	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131870090	131870090	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:131870090G>A	ENST00000359827.3	-	16	4088	c.3126C>T	c.(3124-3126)atC>atT	p.I1042I	PLXNA4_ENST00000321063.4_Silent_p.I1042I			Q9HCM2	PLXA4_HUMAN	plexin A4	1042	IPT/TIG 3.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.I1042I(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAATCCGCACGATGGTGGGGT	0.547																																						uc003vra.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(3124-3126)ATC>ATT		plexin A4 isoform 1							110.0	116.0	114.0					7																	131870090		2051	4193	6244	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131870090G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3126C>T	7.37:g.131870090G>A							p.I1042I	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			16	3355	-			1042			Extracellular (Potential).|IPT/TIG 3.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.3126C>T	CCDS43646.1																																																																																				PASS	0.547	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		15	165	15	165	---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138603329	138603329	+	Missense_Mutation	SNP	G	G	A	rs376618613		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:138603329G>A	ENST00000422774.1	-	2	1091	c.1043C>T	c.(1042-1044)tCg>tTg	p.S348L	KIAA1549_ENST00000242365.4_Missense_Mutation_p.S298L|KIAA1549_ENST00000440172.1_Missense_Mutation_p.S348L			Q9HCM3	K1549_HUMAN	KIAA1549	348						integral component of membrane (GO:0016021)		p.S298L(1)|p.S348L(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGCTGCGTGCGATGCAGTCAC	0.493			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	2	Substitution - Missense(2)		lung(2)	central_nervous_system(229)|pancreas(1)	230						c.(1042-1044)TCG>TTG		hypothetical protein LOC57670 isoform 1		G	LEU/SER,LEU/SER	0,4330		0,0,2165	204.0	214.0	210.0		1043,1043	3.7	0.0	7		210	3,8509		0,3,4253	no	missense,missense	KIAA1549	NM_001164665.1,NM_020910.2	145,145	0,3,6418	AA,AG,GG		0.0352,0.0,0.0234	benign,benign	348/1951,348/1935	138603329	3,12839	2165	4256	6421	SO:0001583	missense	57670					integral to membrane		g.chr7:138603329G>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1043C>T	7.37:g.138603329G>A	ENSP00000416040:p.Ser348Leu					KIAA1549_uc003vuk.3_Missense_Mutation_p.S298L|KIAA1549_uc011kqj.1_Missense_Mutation_p.S348L	p.S348L	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			2	1092	-			348					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.1043C>T	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104743	0.37145	0.0	3.52E-4	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.30182	1.54;1.56;1.55	4.56	3.68	0.42216	.	1.382370	0.05006	N	0.470082	T	0.22322	0.0538	L	0.29908	0.895	0.09310	N	1	P;P	0.42456	0.672;0.78	B;B	0.30782	0.056;0.12	T	0.24476	-1.0159	10	0.46703	T	0.11	.	10.3207	0.43764	0.0918:0.0:0.9082:0.0	.	348;348	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	L	348;298;348	ENSP00000406661:S348L;ENSP00000242365:S298L;ENSP00000416040:S348L	ENSP00000242365:S298L	S	-	2	0	KIAA1549	138253869	0.009000	0.17119	0.001000	0.08648	0.001000	0.01503	1.763000	0.38461	1.137000	0.42214	0.555000	0.69702	TCG		PASS	0.493	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			8	334	8	334	---	---	---	---
EPHB6	2051	broad.mit.edu	37	7	142563239	142563239	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:142563239G>A	ENST00000392957.2	+	8	1743	c.956G>A	c.(955-957)cGg>cAg	p.R319Q	EPHB6_ENST00000442129.1_Missense_Mutation_p.R319Q|EPHB6_ENST00000411471.2_Missense_Mutation_p.R42Q	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	319	Cys-rich.					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.R304Q(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)					GCCTGCCCACGGGGGCTCTAT	0.657																																						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.(955-957)CGG>CAG		ephrin receptor EphB6 precursor							44.0	43.0	44.0					7																	142563239		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142563239G>A	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.956G>A	7.37:g.142563239G>A	ENSP00000376684:p.Arg319Gln					EPHB6_uc011ksu.1_Missense_Mutation_p.R319Q|EPHB6_uc003wbs.2_Missense_Mutation_p.R27Q|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_Missense_Mutation_p.R27Q|EPHB6_uc003wbv.2_5'Flank	p.R319Q	NM_004445	NP_004436	O15197	EPHB6_HUMAN			8	1743	+	Melanoma(164;0.059)		319			Extracellular (Potential).|Cys-rich.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.956G>A	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328080	0.24080	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.16897	2.31;2.31;2.31	5.43	-10.9	0.00192	Tyrosine-protein kinase ephrin type A/B receptor-like (1);	1.677210	0.03311	N	0.190462	T	0.08537	0.0212	L	0.33485	1.01	0.09310	N	1	B	0.26744	0.158	B	0.24269	0.052	T	0.15037	-1.0451	10	0.28530	T	0.3	.	1.6675	0.02805	0.2616:0.0848:0.2481:0.4055	.	319	O15197	EPHB6_HUMAN	Q	319;319;42	ENSP00000376684:R319Q;ENSP00000410789:R319Q;ENSP00000409061:R42Q	ENSP00000376684:R319Q	R	+	2	0	EPHB6	142273361	0.000000	0.05858	0.000000	0.03702	0.788000	0.44548	-0.938000	0.03938	-2.013000	0.00949	-0.314000	0.08810	CGG		PASS	0.657	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			9	59	9	59	---	---	---	---
OR2F1	26211	broad.mit.edu	37	7	143657394	143657394	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:143657394G>C	ENST00000392899.1	+	1	368	c.331G>C	c.(331-333)Gag>Cag	p.E111Q	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	111					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E111Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					GGGTGGGATTGAGTTTGTTCT	0.537																																						uc003wds.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(331-333)GAG>CAG		olfactory receptor, family 2, subfamily F,							173.0	150.0	158.0					7																	143657394		2203	4300	6503	SO:0001583	missense	26211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143657394G>C	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.331G>C	7.37:g.143657394G>C	ENSP00000376633:p.Glu111Gln						p.E111Q	NM_012369	NP_036501	Q13607	OR2F1_HUMAN			1	375	+	Melanoma(164;0.0903)		111			Helical; Name=3; (Potential).		A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	ENST00000392899.1	37	c.331G>C	CCDS5887.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483080	0.63962	.	.	ENSG00000213215	ENST00000392899	T	0.00414	7.52	5.41	5.41	0.78517	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000049	T	0.01222	0.0040	M	0.74881	2.28	0.09310	N	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.47699	-0.9097	10	0.59425	D	0.04	-29.2283	16.7407	0.85458	0.0:0.0:1.0:0.0	.	111	Q13607	OR2F1_HUMAN	Q	111	ENSP00000376633:E111Q	ENSP00000376633:E111Q	E	+	1	0	OR2F1	143288327	1.000000	0.71417	0.978000	0.43139	0.991000	0.79684	5.404000	0.66344	2.809000	0.96659	0.655000	0.94253	GAG		PASS	0.537	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			19	267	19	267	---	---	---	---
GIMAP6	474344	broad.mit.edu	37	7	150325056	150325056	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:150325056G>A	ENST00000328902.5	-	3	846	c.630C>T	c.(628-630)gcC>gcT	p.A210A	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	210	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)	p.A210A(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCGCAGTTGGGCCTCCTGCT	0.532																																						uc003whn.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(628-630)GCC>GCT		GTPase, IMAP family member 6							127.0	133.0	131.0					7																	150325056		2203	4300	6503	SO:0001819	synonymous_variant	474344						GTP binding	g.chr7:150325056G>A	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.630C>T	7.37:g.150325056G>A						GIMAP6_uc003whm.2_Silent_p.A130A	p.A210A	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1054	-			210					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Silent	SNP	ENST00000328902.5	37	c.630C>T	CCDS34778.1																																																																																				PASS	0.532	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		216	104	216	104	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151879574	151879574	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:151879574G>A	ENST00000262189.6	-	36	5589	c.5371C>T	c.(5371-5373)Cag>Tag	p.Q1791*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q1791*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1791	Gln-rich.				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.Q1791*(2)									AGAAGATGCTGAGAACCAAAT	0.468																																						uc003wla.2										N							medulloblastoma		2	Substitution - Nonsense(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.(5371-5373)CAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 3							124.0	125.0	124.0					7																	151879574		2203	4300	6503	SO:0001587	stop_gained	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151879574G>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.5371C>T	7.37:g.151879574G>A	ENSP00000262189:p.Gln1791*					MLL3_uc003wkz.2_Nonsense_Mutation_p.Q852*	p.Q1791*	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)	36	5590	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1791			Gln-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.5371C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	46	12.956122	0.99709	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.4	4.49	0.54785	.	0.000000	0.42548	D	0.000687	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	15.7431	0.77918	0.0:0.1371:0.8629:0.0	.	.	.	.	X	1791	.	ENSP00000262189:Q1791X	Q	-	1	0	MLL3	151510507	1.000000	0.71417	0.071000	0.20095	0.994000	0.84299	6.487000	0.73633	1.213000	0.43380	0.557000	0.71058	CAG		PASS	0.468	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			218	140	218	140	---	---	---	---
PAXIP1	22976	broad.mit.edu	37	7	154754061	154754061	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:154754061G>A	ENST00000404141.1	-	10	2251	c.2097C>T	c.(2095-2097)ttC>ttT	p.F699F	PAXIP1_ENST00000397192.1_Silent_p.F699F|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	699	Interaction with TP53BP1.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)		p.F699F(1)|p.F665F(1)		NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CTCCTGGTGGGAAGGCCACTG	0.468																																						uc003wlp.2																			2	Substitution - coding silent(2)		lung(2)	lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(2095-2097)TTC>TTT		PAX interacting protein 1							178.0	181.0	180.0					7																	154754061		1959	4134	6093	SO:0001819	synonymous_variant	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154754061G>A	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.2097C>T	7.37:g.154754061G>A						PAXIP1_uc003wlq.1_Silent_p.F665F|PAXIP1_uc011kvs.1_Silent_p.F663F	p.F699F	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	10	2140	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	699			Interaction with TP53BP1.		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Silent	SNP	ENST00000404141.1	37	c.2097C>T	CCDS47753.1																																																																																				PASS	0.468	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		28	114	28	114	---	---	---	---
NOM1	64434	broad.mit.edu	37	7	156746852	156746852	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:156746852G>A	ENST00000275820.3	+	3	1183	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	390	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A390T(1)		endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ACTGTACATGGCCCACAGCAG	0.527																																						uc003wmy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1168-1170)GCC>ACC		nucleolar protein with MIF4G domain 1							135.0	117.0	123.0					7																	156746852		2203	4300	6503	SO:0001583	missense	64434				RNA metabolic process	nucleolus	protein binding	g.chr7:156746852G>A	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1168G>A	7.37:g.156746852G>A	ENSP00000275820:p.Ala390Thr						p.A390T	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	3	1183	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	390			MIF4G.		Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	c.1168G>A	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.137871	0.37728	.	.	ENSG00000146909	ENST00000275820	T	0.20598	2.06	4.64	3.75	0.43078	MIF4G-like, type 3 (2);Armadillo-type fold (1);	0.472378	0.23756	N	0.044874	T	0.15132	0.0365	L	0.36672	1.1	0.39480	D	0.967869	B	0.22276	0.067	B	0.23716	0.048	T	0.08911	-1.0699	10	0.23302	T	0.38	-3.8985	7.7619	0.28957	0.2563:0.0:0.7437:0.0	.	390	Q5C9Z4	NOM1_HUMAN	T	390	ENSP00000275820:A390T	ENSP00000275820:A390T	A	+	1	0	NOM1	156439613	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.861000	0.27885	0.955000	0.37878	0.558000	0.71614	GCC		PASS	0.527	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		67	43	67	43	---	---	---	---
PTPRN2	5799	broad.mit.edu	37	7	157361643	157361644	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:157361643_157361644CC>TT	ENST00000389418.4	-	21	2861_2862	c.2852_2853GG>AA	c.(2851-2853)cGG>cAA	p.R951Q	PTPRN2_ENST00000409483.1_Missense_Mutation_p.R913Q|PTPRN2_ENST00000389416.4_Missense_Mutation_p.R934Q|PTPRN2_ENST00000389413.3_Missense_Mutation_p.R922Q|PTPRN2_ENST00000404321.2_Missense_Mutation_p.R974Q	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	951	Substrate binding. {ECO:0000250}.|Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R951Q(2)|p.R951R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGTGCCGCTCCGGCCTGCACC	0.559																																						uc003wno.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(2851-2853)CGG>CGA|c.(2851-2853)CGG>CAG		protein tyrosine phosphatase, receptor type, N																																				SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157361643C>T|g.chr7:157361644C>T	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2852_2853delinsTT	7.37:g.157361643_157361644delinsTT	ENSP00000374069:p.Arg951Gln					PTPRN2_uc003wnp.2_Silent_p.R934R|PTPRN2_uc003wnq.2_Silent_p.R922R|PTPRN2_uc003wnr.2_Silent_p.R913R|PTPRN2_uc011kwa.1_Silent_p.R974R|PTPRN2_uc003wnn.2_RNA|PTPRN2_uc003wnp.2_Missense_Mutation_p.R934Q|PTPRN2_uc003wnq.2_Missense_Mutation_p.R922Q|PTPRN2_uc003wnr.2_Missense_Mutation_p.R913Q|PTPRN2_uc011kwa.1_Missense_Mutation_p.R974Q|PTPRN2_uc003wnn.2_RNA	p.R951R|p.R951Q	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	21	2974|2973	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	951			Substrate binding (By similarity).|Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent|Missense_Mutation	SNP	ENST00000389418.4	37	c.2853G>A|c.2852G>A	CCDS5947.1																																																																																				PASS	0.559	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			4	138|135	4	135	---	---	---	---
PIWIL2	55124	broad.mit.edu	37	8	22141783	22141783	+	Silent	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr8:22141783C>T	ENST00000454009.2	+	6	1250	c.741C>T	c.(739-741)ttC>ttT	p.F247F	PIWIL2_ENST00000356766.6_Silent_p.F247F|PIWIL2_ENST00000521356.1_Silent_p.F247F	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	247					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)	p.F247F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ATGTGACTTTCAGGTATTCAC	0.383																																						uc003xbn.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(739-741)TTC>TTT		piwi-like 2							135.0	115.0	122.0					8																	22141783		2203	4300	6503	SO:0001819	synonymous_variant	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22141783C>T	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.741C>T	8.37:g.22141783C>T						PIWIL2_uc011kzf.1_Silent_p.F247F|PIWIL2_uc010ltv.2_Silent_p.F247F	p.F247F	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	6	889	+			247					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Silent	SNP	ENST00000454009.2	37	c.741C>T	CCDS6029.1																																																																																				PASS	0.383	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			11	53	11	53	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30704639	30704639	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr8:30704639C>A	ENST00000256246.2	-	1	1969	c.1895G>T	c.(1894-1896)aGt>aTt	p.S632I	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	632					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.S632I(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAAATCTGGACTTTCAGAAGA	0.323																																						uc003xil.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(1894-1896)AGT>ATT		testis expressed 15							62.0	61.0	61.0					8																	30704639		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30704639C>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1895G>T	8.37:g.30704639C>A	ENSP00000256246:p.Ser632Ile						p.S632I	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	1895	-			632						Missense_Mutation	SNP	ENST00000256246.2	37	c.1895G>T	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854600	0.51376	.	.	ENSG00000133863	ENST00000256246	T	0.18016	2.24	5.36	-1.72	0.08107	.	0.589480	0.17065	N	0.188408	T	0.10294	0.0252	L	0.32530	0.975	0.09310	N	1	B	0.19583	0.037	B	0.19946	0.027	T	0.19160	-1.0314	10	0.87932	D	0	.	3.7461	0.08548	0.2609:0.2732:0.3829:0.083	.	632	Q9BXT5	TEX15_HUMAN	I	632	ENSP00000256246:S632I	ENSP00000256246:S632I	S	-	2	0	TEX15	30824181	0.000000	0.05858	0.000000	0.03702	0.686000	0.39977	-0.440000	0.06888	-0.586000	0.05898	0.655000	0.94253	AGT		PASS	0.323	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			61	75	61	75	---	---	---	---
ADAM18	8749	broad.mit.edu	37	8	39537690	39537690	+	Nonsense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr8:39537690C>G	ENST00000265707.5	+	16	1811	c.1766C>G	c.(1765-1767)tCa>tGa	p.S589*	ADAM18_ENST00000541111.1_Nonsense_Mutation_p.S3*|ADAM18_ENST00000379866.1_Nonsense_Mutation_p.S565*	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	589	Cys-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S589*(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TCCATGAGATCAGATGGAACA	0.368																																						uc003xni.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6						c.(1765-1767)TCA>TGA		a disintegrin and metalloprotease domain 18							91.0	84.0	87.0					8																	39537690		2203	4300	6503	SO:0001587	stop_gained	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39537690C>G	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1766C>G	8.37:g.39537690C>G	ENSP00000265707:p.Ser589*					ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Nonsense_Mutation_p.S565*	p.S589*	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		16	1766	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	589			Cys-rich.|Extracellular (Potential).		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Nonsense_Mutation	SNP	ENST00000265707.5	37	c.1766C>G	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	C	37	6.384115	0.97524	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000541111;ENST00000522198	.	.	.	3.85	2.04	0.26737	.	0.666626	0.11473	N	0.560539	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	6.2897	0.21053	0.0:0.7717:0.0:0.2283	.	.	.	.	X	589;565;3;521	.	ENSP00000265707:S589X	S	+	2	0	ADAM18	39656847	0.823000	0.29233	0.893000	0.35052	0.813000	0.45954	0.996000	0.29719	0.597000	0.29811	0.563000	0.77884	TCA		PASS	0.368	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		24	46	24	46	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41798403	41798403	+	Nonsense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr8:41798403G>C	ENST00000396930.3	-	16	3539	c.2996C>G	c.(2995-2997)tCa>tGa	p.S999*	KAT6A_ENST00000265713.2_Nonsense_Mutation_p.S999*|KAT6A_ENST00000406337.1_Nonsense_Mutation_p.S999*	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	999					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S999*(1)									TGGCGAGCTTGACCGAGGGCT	0.557																																						uc010lxb.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(2995-2997)TCA>TGA		MYST histone acetyltransferase (monocytic							165.0	166.0	166.0					8																	41798403		2203	4300	6503	SO:0001587	stop_gained	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41798403G>C	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2996C>G	8.37:g.41798403G>C	ENSP00000380136:p.Ser999*					MYST3_uc010lxc.2_Nonsense_Mutation_p.S999*|MYST3_uc003xon.3_Nonsense_Mutation_p.S999*	p.S999*	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		16	3540	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	999					Q76L81	Nonsense_Mutation	SNP	ENST00000396930.3	37	c.2996C>G	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	G	46	12.306415	0.99655	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721	.	.	.	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-13.7359	19.2318	0.93843	0.0:0.0:1.0:0.0	.	.	.	.	X	999;999;999;579	.	ENSP00000265713:S999X	S	-	2	0	KAT6A	41917560	1.000000	0.71417	0.709000	0.30452	0.926000	0.56050	5.685000	0.68204	2.535000	0.85469	0.557000	0.71058	TCA		PASS	0.557	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		11	269	11	269	---	---	---	---
BHLHE22	27319	broad.mit.edu	37	8	65493498	65493498	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr8:65493498C>T	ENST00000321870.1	+	1	685	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	51					anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R51W(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						GCCGCCGCCTCGGGAACGCCC	0.736																																					Colon(113;104 1586 2865 9855 18065)	uc003xvi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(151-153)CGG>TGG		basic helix-loop-helix domain containing, class							6.0	7.0	6.0					8																	65493498		1948	3908	5856	SO:0001583	missense	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65493498C>T	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.151C>T	8.37:g.65493498C>T	ENSP00000318799:p.Arg51Trp					LOC401463_uc003xvh.2_Intron	p.R51W	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN			1	685	+			51						Missense_Mutation	SNP	ENST00000321870.1	37	c.151C>T	CCDS6179.1	.	.	.	.	.	.	.	.	.	.	c	15.99	2.994920	0.54041	.	.	ENSG00000180828	ENST00000321870	D	0.97328	-4.34	3.16	3.16	0.36331	.	.	.	.	.	D	0.95484	0.8533	N	0.14661	0.345	0.38657	D	0.951981	D	0.89917	1.0	D	0.64321	0.924	D	0.95498	0.8575	9	0.72032	D	0.01	-12.7799	10.6784	0.45799	0.0:0.8047:0.1953:0.0	.	51	Q8NFJ8	BHE22_HUMAN	W	51	ENSP00000318799:R51W	ENSP00000318799:R51W	R	+	1	2	BHLHE22	65656052	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.690000	0.37711	1.797000	0.52628	0.450000	0.29827	CGG		PASS	0.736	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		10	9	10	9	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77768512	77768513	+	Missense_Mutation	DNP	CC	CC	TT	rs61729535	byFrequency	TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr8:77768512_77768513CC>TT	ENST00000521891.2	+	10	9803_9804	c.9355_9356CC>TT	c.(9355-9357)CCg>TTg	p.P3119L	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P3074L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P3074L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P3093L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3074	Pro-rich.				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.P3103L(2)|p.P3103S(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATCCTCCTTGCCGGGATTTCCA	0.515										HNSCC(33;0.089)																												uc003yav.2																			3	Substitution - Missense(3)		lung(3)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9220-9222)CCG>TCG|c.(9220-9222)CCG>CTG		zinc finger homeodomain 4																																				SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77768512C>T|g.chr8:77768513C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	Exception_encountered	8.37:g.77768512_77768513delinsTT	ENSP00000430497:p.Pro3119Leu	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.P3119S|ZFHX4_uc003yaw.1_Missense_Mutation_p.P3074S|ZFHX4_uc003yau.1_Missense_Mutation_p.P3119L|ZFHX4_uc003yaw.1_Missense_Mutation_p.P3074L	p.P3074S|p.P3074L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9607|9608	+			3074			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.9220C>T|c.9221C>T	CCDS47878.2																																																																																				PASS	0.515	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		27|26	59|58	26	58	---	---	---	---
CCNE2	9134	broad.mit.edu	37	8	95895093	95895093	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr8:95895093C>T	ENST00000520509.1	-	10	1111	c.859G>A	c.(859-861)Gat>Aat	p.D287N	CCNE2_ENST00000523476.1_5'Flank|RP11-347C18.5_ENST00000605911.1_RNA|CCNE2_ENST00000396133.3_Missense_Mutation_p.D287N|CCNE2_ENST00000308108.4_Missense_Mutation_p.D287N			O96020	CCNE2_HUMAN	cyclin E2	287					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.D287N(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TCTAATGAATCAATGGCTAGA	0.373																																						uc003yhc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(859-861)GAT>AAT		cyclin E2							122.0	117.0	118.0					8																	95895093		2203	4300	6503	SO:0001583	missense	9134				cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	g.chr8:95895093C>T	AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.859G>A	8.37:g.95895093C>T	ENSP00000429089:p.Asp287Asn					CCNE2_uc003yhd.2_Missense_Mutation_p.D287N	p.D287N	NM_057749	NP_477097	O96020	CCNE2_HUMAN			10	968	-	Breast(36;8.75e-07)		287					O95439	Missense_Mutation	SNP	ENST00000520509.1	37	c.859G>A	CCDS6264.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421487	0.25639	.	.	ENSG00000175305	ENST00000520509;ENST00000308108;ENST00000542725;ENST00000396133	T;T;T	0.42131	0.98;0.98;0.98	6.16	6.16	0.99307	Cyclin, C-terminal (1);Cyclin-like (1);	0.239039	0.49916	D	0.000135	T	0.18341	0.0440	N	0.03281	-0.365	0.43714	D	0.996184	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.25641	-1.0126	10	0.17369	T	0.5	.	8.1268	0.31003	0.0:0.8198:0.0:0.1802	.	287;287	Q8WUE3;O96020	.;CCNE2_HUMAN	N	287;287;179;287	ENSP00000429089:D287N;ENSP00000309181:D287N;ENSP00000379437:D287N	ENSP00000309181:D287N	D	-	1	0	CCNE2	95964269	0.906000	0.30813	0.983000	0.44433	0.999000	0.98932	2.358000	0.44134	2.937000	0.99478	0.650000	0.86243	GAT		PASS	0.373	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702		142	123	142	123	---	---	---	---
RGS22	26166	broad.mit.edu	37	8	101052292	101052292	+	Silent	SNP	A	A	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr8:101052292A>C	ENST00000360863.6	-	13	2156	c.1962T>G	c.(1960-1962)ggT>ggG	p.G654G	RGS22_ENST00000523437.1_Silent_p.G642G|RGS22_ENST00000523287.1_Silent_p.G473G	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	654					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.G654G(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTCCCAAGGCACCAACATCTG	0.358																																						uc003yjb.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(1960-1962)GGT>GGG		regulator of G-protein signaling 22							74.0	68.0	70.0					8																	101052292		1839	4083	5922	SO:0001819	synonymous_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101052292A>C	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.1962T>G	8.37:g.101052292A>C						RGS22_uc003yja.1_Silent_p.G473G|RGS22_uc003yjc.1_Silent_p.G642G|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	p.G654G	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		13	2157	-			654					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Silent	SNP	ENST00000360863.6	37	c.1962T>G	CCDS43758.1																																																																																				PASS	0.358	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		65	41	65	41	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110451174	110451174	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr8:110451174C>G	ENST00000378402.5	+	32	3913	c.3809C>G	c.(3808-3810)aCa>aGa	p.T1270R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1270	IPT/TIG 6.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.T1272R(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATGAACTCACACAAAACATG	0.343										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(3808-3810)ACA>AGA		fibrocystin L precursor							61.0	59.0	59.0					8																	110451174		1812	4067	5879	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110451174C>G	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3809C>G	8.37:g.110451174C>G	ENSP00000367655:p.Thr1270Arg	HNSCC(38;0.096)					p.T1270R	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		32	3913	+			1270			Extracellular (Potential).|IPT/TIG 6.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.3809C>G	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	8.166	0.790503	0.16258	.	.	ENSG00000205038	ENST00000378402	T	0.77358	-1.09	6.07	2.18	0.27775	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.593501	0.16570	N	0.208667	T	0.66519	0.2797	L	0.52759	1.655	0.09310	N	0.999996	B	0.28055	0.199	B	0.26693	0.072	T	0.50825	-0.8782	10	0.21014	T	0.42	.	6.745	0.23456	0.2732:0.6089:0.0:0.1179	.	1270	Q86WI1	PKHL1_HUMAN	R	1270	ENSP00000367655:T1270R	ENSP00000367655:T1270R	T	+	2	0	PKHD1L1	110520350	0.385000	0.25172	0.749000	0.31150	0.752000	0.42762	0.548000	0.23314	0.840000	0.34995	0.655000	0.94253	ACA		PASS	0.343	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		77	37	77	37	---	---	---	---
KLHL38	340359	broad.mit.edu	37	8	124658160	124658160	+	Missense_Mutation	SNP	T	T	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr8:124658160T>G	ENST00000325995.7	-	3	1588	c.1565A>C	c.(1564-1566)aAa>aCa	p.K522T	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	522								p.K522T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CACGTAGAGTTTGTTTCCCAT	0.557																																						uc003yqs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1564-1566)AAA>ACA		kelch-like 38							95.0	107.0	103.0					8																	124658160		2095	4217	6312	SO:0001583	missense	340359							g.chr8:124658160T>G		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1565A>C	8.37:g.124658160T>G	ENSP00000321475:p.Lys522Thr						p.K522T	NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN			3	1589	-			522					A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	c.1565A>C	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.517814	0.64634	.	.	ENSG00000175946	ENST00000325995	T	0.80480	-1.38	5.0	3.85	0.44370	Kelch-type beta propeller (1);	0.045415	0.85682	D	0.000000	D	0.87633	0.6226	M	0.85462	2.755	0.46901	D	0.999246	P	0.49559	0.925	P	0.59012	0.85	D	0.88585	0.3139	10	0.62326	D	0.03	.	10.061	0.42275	0.0:0.0797:0.0:0.9203	.	522	Q2WGJ6	KLH38_HUMAN	T	522	ENSP00000321475:K522T	ENSP00000321475:K522T	K	-	2	0	KLHL38	124727341	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	5.157000	0.64911	1.882000	0.54519	0.374000	0.22700	AAA		PASS	0.557	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			56	76	56	76	---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131848603	131848603	+	Missense_Mutation	SNP	C	C	T	rs267601770		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr8:131848603C>T	ENST00000286355.5	-	12	4687	c.2595G>A	c.(2593-2595)atG>atA	p.M865I	ADCY8_ENST00000377928.3_Missense_Mutation_p.M734I	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	865					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|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)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.M865I(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGATGGCAATCATGATCAGCA	0.547										HNSCC(32;0.087)																												uc003ytd.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2593-2595)ATG>ATA		adenylate cyclase 8							168.0	129.0	142.0					8																	131848603		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131848603C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2595G>A	8.37:g.131848603C>T	ENSP00000286355:p.Met865Ile	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.M734I	p.M865I	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		12	2851	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		865			Helical; (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.2595G>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306300	0.40795	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.76060	-0.99;-0.96	5.44	5.44	0.79542	.	0.085569	0.85682	D	0.000000	T	0.66056	0.2751	L	0.43152	1.355	0.32282	N	0.567505	B;B	0.29341	0.242;0.11	B;B	0.30646	0.118;0.064	T	0.63028	-0.6728	10	0.05351	T	0.99	.	18.2583	0.90025	0.0:1.0:0.0:0.0	.	734;865	E7EVL1;P40145	.;ADCY8_HUMAN	I	865;734	ENSP00000286355:M865I;ENSP00000367161:M734I	ENSP00000286355:M865I	M	-	3	0	ADCY8	131917785	1.000000	0.71417	0.998000	0.56505	0.874000	0.50279	5.771000	0.68881	2.548000	0.85928	0.561000	0.74099	ATG		PASS	0.547	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			68	64	68	64	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139144901	139144901	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr8:139144901C>G	ENST00000395297.1	-	20	4326	c.4156G>C	c.(4156-4158)Gtg>Ctg	p.V1386L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1386								p.V1386L(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAATCCAGCACAGCGATGTGA	0.522										HNSCC(54;0.14)																												uc003yuy.2																			4	Substitution - Missense(4)		lung(4)	ovary(7)|skin(2)	9						c.(4156-4158)GTG>CTG		hypothetical protein LOC51059							192.0	202.0	199.0					8																	139144901		1963	4156	6119	SO:0001583	missense	51059							g.chr8:139144901C>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.4156G>C	8.37:g.139144901C>G	ENSP00000378710:p.Val1386Leu	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.V1287L|FAM135B_uc003yuz.2_RNA	p.V1386L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		20	4327	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1386					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.4156G>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563692	0.86335	.	.	ENSG00000147724	ENST00000395297	T	0.16324	2.35	5.74	4.86	0.63082	.	0.000000	0.64402	D	0.000001	T	0.39989	0.1099	L	0.61387	1.9	0.53688	D	0.999971	D	0.64830	0.994	D	0.72625	0.978	T	0.30679	-0.9970	10	0.87932	D	0	-14.7797	15.8583	0.79000	0.0:0.8641:0.1359:0.0	.	1386	Q49AJ0	F135B_HUMAN	L	1386	ENSP00000378710:V1386L	ENSP00000378710:V1386L	V	-	1	0	FAM135B	139214083	1.000000	0.71417	0.910000	0.35882	0.754000	0.42855	7.818000	0.86416	1.430000	0.47334	-0.274000	0.10170	GTG		PASS	0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		89	170	89	170	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139163465	139163465	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr8:139163465C>T	ENST00000395297.1	-	13	3423	c.3253G>A	c.(3253-3255)Gat>Aat	p.D1085N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1085								p.D1085N(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACTTCCTCATCCAACGTGCTG	0.478										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(3253-3255)GAT>AAT		hypothetical protein LOC51059							55.0	47.0	50.0					8																	139163465		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139163465C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3253G>A	8.37:g.139163465C>T	ENSP00000378710:p.Asp1085Asn	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.D986N|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.D647N|FAM135B_uc003yvb.2_Missense_Mutation_p.D647N	p.D1085N	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	3424	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1085					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3253G>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	17.67	3.448134	0.63178	.	.	ENSG00000147724	ENST00000395297	T	0.14391	2.51	5.14	5.14	0.70334	.	0.190336	0.44688	D	0.000435	T	0.11836	0.0288	N	0.14661	0.345	0.41969	D	0.990743	P;P;P	0.41848	0.763;0.634;0.546	B;B;B	0.42422	0.387;0.3;0.156	T	0.14811	-1.0459	10	0.39692	T	0.17	-16.3009	17.5967	0.88014	0.0:1.0:0.0:0.0	.	1085;1085;1085	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	N	1085	ENSP00000378710:D1085N	ENSP00000276737:D1085N	D	-	1	0	FAM135B	139232647	1.000000	0.71417	1.000000	0.80357	0.122000	0.20287	7.487000	0.81328	2.415000	0.81967	0.555000	0.69702	GAT		PASS	0.478	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		33	50	33	50	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139165256	139165256	+	Missense_Mutation	SNP	T	T	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr8:139165256T>A	ENST00000395297.1	-	13	1632	c.1462A>T	c.(1462-1464)Aca>Tca	p.T488S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	488								p.T488S(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGATTTTGTGTGGCCACATTC	0.408										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(1462-1464)ACA>TCA		hypothetical protein LOC51059							132.0	125.0	127.0					8																	139165256		1936	4144	6080	SO:0001583	missense	51059							g.chr8:139165256T>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1462A>T	8.37:g.139165256T>A	ENSP00000378710:p.Thr488Ser	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.T389S|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.T50S|FAM135B_uc003yvb.2_Missense_Mutation_p.T50S	p.T488S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1633	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		488					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1462A>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	T	15.51	2.853500	0.51270	.	.	ENSG00000147724	ENST00000395297	T	0.14766	2.48	5.75	0.489	0.16854	.	1.116690	0.06460	N	0.729208	T	0.19366	0.0465	L	0.55103	1.725	0.09310	N	1	D;P;P	0.55605	0.972;0.86;0.666	P;P;B	0.51453	0.67;0.536;0.162	T	0.28332	-1.0047	10	0.22706	T	0.39	-4.1676	6.1577	0.20346	0.0:0.2778:0.126:0.5962	.	488;488;488	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	S	488	ENSP00000378710:T488S	ENSP00000276737:T488S	T	-	1	0	FAM135B	139234438	0.000000	0.05858	0.008000	0.14137	0.040000	0.13550	-0.069000	0.11542	0.095000	0.17434	0.533000	0.62120	ACA		PASS	0.408	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		14	65	14	65	---	---	---	---
PTK2	5747	broad.mit.edu	37	8	141828991	141828991	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr8:141828991C>A	ENST00000522684.1	-	9	1006	c.777G>T	c.(775-777)aaG>aaT	p.K259N	PTK2_ENST00000395218.2_Missense_Mutation_p.K259N|PTK2_ENST00000519419.1_Missense_Mutation_p.K303N|PTK2_ENST00000535192.1_Missense_Mutation_p.K259N|PTK2_ENST00000521059.1_Missense_Mutation_p.K259N|PTK2_ENST00000340930.3_Missense_Mutation_p.K259N|PTK2_ENST00000517887.1_Missense_Mutation_p.K303N	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	259	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)	p.K259N(1)|p.K281N(1)|p.K169N(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CAAGAGCACACTTGAAGCATT	0.333																																						uc003yvu.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(775-777)AAG>AAT		PTK2 protein tyrosine kinase 2 isoform a							163.0	162.0	162.0					8																	141828991		2203	4299	6502	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141828991C>A	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.777G>T	8.37:g.141828991C>A	ENSP00000429911:p.Lys259Asn					PTK2_uc003yvq.2_5'UTR|PTK2_uc003yvr.2_Missense_Mutation_p.K158N|PTK2_uc003yvs.2_Missense_Mutation_p.K259N|PTK2_uc003yvt.2_Missense_Mutation_p.K281N|PTK2_uc003yvv.2_Missense_Mutation_p.K146N|PTK2_uc011ljr.1_Missense_Mutation_p.K259N	p.K259N	NM_153831	NP_722560	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		9	1007	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	259			FERM.		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.777G>T	CCDS6381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.49|17.49	3.402792|3.402792	0.62288|0.62288	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000340930;ENST00000519419;ENST00000342207|ENST00000519654	T;T;T;T;T;T;T|.	0.12255|.	2.7;2.7;2.7;2.7;2.7;2.7;2.7|.	5.6|5.6	1.76|1.76	0.24704|0.24704	FERM domain (1);|.	0.096794|.	0.85682|.	D|.	0.000000|.	T|T	0.54143|0.54143	0.1840|0.1840	L|L	0.41824|0.41824	1.3|1.3	0.80722|0.80722	D|D	1|1	D;B;D;B;D;B|.	0.58970|.	0.984;0.401;0.97;0.181;0.963;0.401|.	P;B;P;B;P;B|.	0.53760|.	0.734;0.047;0.527;0.032;0.661;0.067|.	T|T	0.45381|0.45381	-0.9265|-0.9265	10|5	0.46703|.	T|.	0.11|.	.|.	11.66|11.66	0.51341|0.51341	0.0:0.7253:0.0:0.2747|0.0:0.7253:0.0:0.2747	.|.	259;166;259;281;259;170|.	B4E2N6;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6|.	.;.;FAK1_HUMAN;.;.;.|.	N|L	259;259;303;259;169;259;166;259;303;77|270	ENSP00000429911:K259N;ENSP00000438009:K259N;ENSP00000429082:K303N;ENSP00000429474:K259N;ENSP00000378644:K259N;ENSP00000341189:K259N;ENSP00000429129:K303N|.	ENSP00000341189:K259N|.	K|V	-|-	3|1	2|0	PTK2|PTK2	141898173|141898173	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.534000|0.534000	0.23098|0.23098	0.416000|0.416000	0.25844|0.25844	0.655000|0.655000	0.94253|0.94253	AAG|GTG		PASS	0.333	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		35	173	35	173	---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144946539	144946539	+	Missense_Mutation	SNP	C	C	T	rs369129283	byFrequency	TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr8:144946539C>T	ENST00000525985.1	-	2	954	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K				P58107	EPIPL_HUMAN	epiplakin 1	295						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.E295K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTGTGGCCTTCGGGCAGCAGG	0.692													C|||	3	0.000599042	0.0	0.0014	5008	,	,		18196	0.0		0.0	False		,,,				2504	0.002					uc003zaa.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(883-885)GAA>AAA		epiplakin 1		C	LYS/GLU	1,4239		0,1,2119	34.0	43.0	40.0		883	-3.7	0.0	8		40	0,8428		0,0,4214	no	missense	EPPK1	NM_031308.1	56	0,1,6333	TT,TC,CC		0.0,0.0236,0.0079	benign	295/2420	144946539	1,12667	2120	4214	6334	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144946539C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.883G>A	8.37:g.144946539C>T	ENSP00000436337:p.Glu295Lys						p.E295K	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	896	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		295			Plectin 6.		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.883G>A		.	.	.	.	.	.	.	.	.	.	C	0.018	-1.466866	0.01053	2.36E-4	0.0	ENSG00000227184	ENST00000525985	T	0.67698	-0.28	4.81	-3.71	0.04424	.	.	.	.	.	T	0.28995	0.0720	N	0.01576	-0.805	0.09310	N	1	B	0.20261	0.043	B	0.08055	0.003	T	0.10823	-1.0613	9	0.34782	T	0.22	.	1.6007	0.02673	0.1176:0.3238:0.2323:0.3263	.	295	E9PPU0	.	K	295	ENSP00000436337:E295K	ENSP00000436337:E295K	E	-	1	0	EPPK1	145018527	0.000000	0.05858	0.001000	0.08648	0.080000	0.17528	-1.024000	0.03603	-0.617000	0.05664	-0.409000	0.06214	GAA		PASS	0.692	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		10	51	10	51	---	---	---	---
OPLAH	26873	broad.mit.edu	37	8	145112502	145112502	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr8:145112502C>T	ENST00000426825.1	-	10	1352	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	424					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)	p.R424H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGGCTTTGCGGGAGGCCTC	0.652																																						uc003zar.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1270-1272)CGC>CAC		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						18.0	23.0	21.0					8																	145112502		1996	4151	6147	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145112502C>T	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.1271G>A	8.37:g.145112502C>T	ENSP00000475943:p.Arg424His					OPLAH_uc003zas.1_5'Flank|OPLAH_uc003zat.1_3'UTR	p.R424H	NM_017570	NP_060040	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		10	1353	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		424					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.1271G>A		.	.	.	.	.	.	.	.	.	.	c	3.769	-0.047985	0.07407	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.31	1.26	0.21427	.	0.466272	0.21738	N	0.069865	T	0.20455	0.0492	.	.	.	0.29748	N	0.836546	B	0.20459	0.045	B	0.20384	0.029	T	0.08785	-1.0705	7	0.19147	T	0.46	.	3.1565	0.06506	0.3294:0.4542:0.0:0.2164	.	424	O14841	OPLA_HUMAN	H	424	.	ENSP00000412071:R424H	R	-	2	0	OPLAH	145184490	0.000000	0.05858	0.964000	0.40570	0.186000	0.23388	-0.403000	0.07214	0.940000	0.37473	-0.349000	0.07799	CGC		PASS	0.652	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		3	23	3	23	---	---	---	---
GPAA1	8733	broad.mit.edu	37	8	145138688	145138688	+	Silent	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr8:145138688C>G	ENST00000355091.4	+	4	559	c.438C>G	c.(436-438)ctC>ctG	p.L146L	GPAA1_ENST00000527144.1_3'UTR|GPAA1_ENST00000361036.6_Silent_p.L86L	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	146					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)	p.L146L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCTTGTGCTCACCGTGCCCT	0.672																																						uc003zax.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(436-438)CTC>CTG		glycosylphosphatidylinositol anchor attachment							26.0	31.0	29.0					8																	145138688		2163	4263	6426	SO:0001819	synonymous_variant	8733				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding	g.chr8:145138688C>G	AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.438C>G	8.37:g.145138688C>G						GPAA1_uc003zav.1_Silent_p.L24L|GPAA1_uc003zaw.1_Silent_p.L86L	p.L146L	NM_003801	NP_003792	O43292	GPAA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		4	548	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		146			Lumenal (Potential).		Q9NSS0|Q9UQ31	Silent	SNP	ENST00000355091.4	37	c.438C>G	CCDS43776.1																																																																																				PASS	0.672	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801		17	25	17	25	---	---	---	---
TONSL	4796	broad.mit.edu	37	8	145664053	145664053	+	Silent	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr8:145664053G>T	ENST00000409379.3	-	12	1575	c.1546C>A	c.(1546-1548)Cgg>Agg	p.R516R	AC084125.4_ENST00000544423.1_RNA|AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	516				R -> P (in Ref. 1; AAA85819). {ECO:0000305}.	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.R516R(1)|p.R357R(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CCCTTCCGCCGGCCCAGGTGG	0.706																																						uc011llg.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1546-1548)CGG>AGG		NF-kappa-B inhibitor-like protein 2							45.0	42.0	43.0					8																	145664053		2203	4300	6503	SO:0001819	synonymous_variant	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.chr8:145664053G>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.1546C>A	8.37:g.145664053G>T						uc011llh.1_Intron	p.R516R	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)		12	1561	-	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)		516	R -> P (in Ref. 1; AAA85819).				B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	ENST00000409379.3	37	c.1546C>A	CCDS34968.2																																																																																				PASS	0.706	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		18	25	18	25	---	---	---	---
DNAJB5	25822	broad.mit.edu	37	9	34996540	34996540	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr9:34996540C>A	ENST00000541010.1	+	2	3502	c.490C>A	c.(490-492)Cgc>Agc	p.R164S	DNAJB5_ENST00000312316.5_Missense_Mutation_p.R164S|DNAJB5_ENST00000454002.2_Missense_Mutation_p.R236S|DNAJB5_ENST00000545841.1_Missense_Mutation_p.R164S|DNAJB5_ENST00000453597.3_Missense_Mutation_p.R278S|DNAJB5_ENST00000335998.3_Missense_Mutation_p.R198S			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	164					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)	p.R164C(1)|p.R278S(1)|p.R164S(1)		kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			GTACCCTCGGCGCAAGGTGCA	0.607																																						uc003zvt.2																			3	Substitution - Missense(3)		lung(2)|prostate(1)		0						c.(490-492)CGC>AGC		DnaJ (Hsp40) homolog, subfamily B, member 5							48.0	45.0	46.0					9																	34996540		2203	4300	6503	SO:0001583	missense	25822				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding	g.chr9:34996540C>A	AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"""Heat shock proteins / DNAJ (HSP40)"""	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.490C>A	9.37:g.34996540C>A	ENSP00000443151:p.Arg164Ser					DNAJB5_uc003zvs.2_Missense_Mutation_p.R198S|DNAJB5_uc011los.1_Missense_Mutation_p.R236S	p.R164S	NM_012266	NP_036398	O75953	DNJB5_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		3	628	+			164					B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Missense_Mutation	SNP	ENST00000541010.1	37	c.490C>A	CCDS35007.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876184	0.51801	.	.	ENSG00000137094	ENST00000453597;ENST00000335998;ENST00000378751;ENST00000312316;ENST00000541010;ENST00000454002;ENST00000545841;ENST00000539059	T;T;T;T;T;T;T	0.69040	0.92;0.92;0.92;0.92;0.92;0.92;-0.37	5.11	5.11	0.69529	.	0.132658	0.49916	D	0.000123	T	0.48205	0.1487	N	0.19112	0.55	0.38917	D	0.957658	P;B	0.44195	0.828;0.127	B;B	0.38264	0.269;0.048	T	0.48175	-0.9058	10	0.17832	T	0.49	.	13.5814	0.61905	0.1653:0.8347:0.0:0.0	.	236;164	B4DSA6;O75953	.;DNJB5_HUMAN	S	278;198;164;164;164;236;164;200	ENSP00000404079:R278S;ENSP00000337626:R198S;ENSP00000312517:R164S;ENSP00000443151:R164S;ENSP00000413684:R236S;ENSP00000441999:R164S;ENSP00000445536:R200S	ENSP00000312517:R164S	R	+	1	0	DNAJB5	34986540	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.097000	0.41748	2.826000	0.97356	0.561000	0.74099	CGC		PASS	0.607	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1			85	16	85	16	---	---	---	---
TESK1	7016	broad.mit.edu	37	9	35608409	35608409	+	Silent	SNP	T	T	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr9:35608409T>A	ENST00000336395.5	+	9	1153	c.903T>A	c.(901-903)cgT>cgA	p.R301R	CD72_ENST00000490239.1_5'Flank|TESK1_ENST00000498522.1_3'UTR|MIR4667_ENST00000578933.1_RNA	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	301	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R301R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCAGCACCCGTGCCCCCTTCA	0.597																																						uc003zxa.2																			1	Substitution - coding silent(1)		lung(1)	stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7						c.(901-903)CGT>CGA		testis-specific protein kinase 1							71.0	66.0	68.0					9																	35608409		2203	4300	6503	SO:0001819	synonymous_variant	7016				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr9:35608409T>A	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.903T>A	9.37:g.35608409T>A						TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Silent_p.R141R	p.R301R	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		9	1239	+			301			Protein kinase.		Q8IXZ8	Silent	SNP	ENST00000336395.5	37	c.903T>A	CCDS6580.1																																																																																				PASS	0.597	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		42	69	42	69	---	---	---	---
ALDH1B1	219	broad.mit.edu	37	9	38396569	38396569	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr9:38396569G>A	ENST00000377698.3	+	2	977	c.824G>A	c.(823-825)gGc>gAc	p.G275D		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	275					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)	p.G275D(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		AAAGCAGCTGGCGATTCCAAC	0.617																																						uc004aay.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(823-825)GGC>GAC		aldehyde dehydrogenase 1B1 precursor	NADH(DB00157)						54.0	51.0	52.0					9																	38396569		2203	4298	6501	SO:0001583	missense	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396569G>A	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.824G>A	9.37:g.38396569G>A	ENSP00000366927:p.Gly275Asp						p.G275D	NM_000692	NP_000683	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	936	+			275					B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	c.824G>A	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029473	0.54790	.	.	ENSG00000137124	ENST00000377698	T	0.16743	2.32	5.7	2.76	0.32466	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.084955	0.48767	D	0.000167	T	0.26629	0.0651	L	0.59912	1.85	0.22226	N	0.999275	P	0.39696	0.683	P	0.50934	0.654	T	0.05225	-1.0898	10	0.87932	D	0	.	8.3349	0.32208	0.135:0.1262:0.7388:0.0	.	275	P30837	AL1B1_HUMAN	D	275	ENSP00000366927:G275D	ENSP00000366927:G275D	G	+	2	0	ALDH1B1	38386569	1.000000	0.71417	0.001000	0.08648	0.922000	0.55478	4.972000	0.63756	0.756000	0.33013	0.655000	0.94253	GGC		PASS	0.617	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			161	57	161	57	---	---	---	---
TMEM2	23670	broad.mit.edu	37	9	74340563	74340563	+	Silent	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr9:74340563G>C	ENST00000377044.4	-	11	2651	c.2112C>G	c.(2110-2112)ctC>ctG	p.L704L	TMEM2_ENST00000377066.5_Silent_p.L641L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	704					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L704L(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GTTTTGCCAAGAGCTGCAATC	0.368																																						uc011lsa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2110-2112)CTC>CTG		transmembrane protein 2 isoform a							98.0	103.0	101.0					9																	74340563		2203	4300	6503	SO:0001819	synonymous_variant	23670					integral to membrane		g.chr9:74340563G>C		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.2112C>G	9.37:g.74340563G>C						TMEM2_uc010mos.2_Silent_p.L641L|TMEM2_uc011lsb.1_RNA	p.L704L	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	11	2652	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	704					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Silent	SNP	ENST00000377044.4	37	c.2112C>G	CCDS6638.1																																																																																				PASS	0.368	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		60	118	60	118	---	---	---	---
ANXA1	301	broad.mit.edu	37	9	75782448	75782448	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr9:75782448G>T	ENST00000376911.1	+	10	1720	c.838G>T	c.(838-840)Gag>Tag	p.E280*	ANXA1_ENST00000257497.6_Nonsense_Mutation_p.E280*			P04083	ANXA1_HUMAN	annexin A1	280					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.E280*(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	TTTCTTTGCAGAGAAGCTTCA	0.338																																						uc004ajf.1																			1	Substitution - Nonsense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(838-840)GAG>TAG		annexin I	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)						111.0	109.0	109.0					9																	75782448		2203	4299	6502	SO:0001587	stop_gained	301				alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity	g.chr9:75782448G>T	X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"""Annexins"", ""Endogenous ligands"""	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.838G>T	9.37:g.75782448G>T	ENSP00000366109:p.Glu280*					ANXA1_uc004aje.1_Nonsense_Mutation_p.E280*|ANXA1_uc004ajg.1_Nonsense_Mutation_p.E280*	p.E280*	NM_000700	NP_000691	P04083	ANXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	11	912	+		all_epithelial(88;2.54e-11)	280						Nonsense_Mutation	SNP	ENST00000376911.1	37	c.838G>T	CCDS6645.1	.	.	.	.	.	.	.	.	.	.	G	45	12.023686	0.99628	.	.	ENSG00000135046	ENST00000257497;ENST00000376911	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	19.5926	0.95522	0.0:0.0:1.0:0.0	.	.	.	.	X	280	.	ENSP00000257497:E280X	E	+	1	0	ANXA1	74972268	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	8.891000	0.92485	2.704000	0.92352	0.585000	0.79938	GAG		PASS	0.338	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052665.1	NM_000700		63	64	63	64	---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98232122	98232122	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr9:98232122C>G	ENST00000331920.6	-	13	2119	c.1820G>C	c.(1819-1821)aGa>aCa	p.R607T	PTCH1_ENST00000430669.2_Missense_Mutation_p.R541T|PTCH1_ENST00000375274.2_Missense_Mutation_p.R606T|PTCH1_ENST00000437951.1_Missense_Mutation_p.R541T|PTCH1_ENST00000418258.1_Missense_Mutation_p.R456T|PTCH1_ENST00000429896.2_Missense_Mutation_p.R456T|PTCH1_ENST00000421141.1_Missense_Mutation_p.R456T	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	607					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.R607T(2)|p.R606T(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AATATCCAGTCTCCTGTCCTC	0.463																																						uc004avk.3																			4	Substitution - Missense(4)		lung(4)	skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379						c.(1819-1821)AGA>ACA		patched isoform L							164.0	158.0	160.0					9																	98232122		2203	4300	6503	SO:0001583	missense	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98232122C>G	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1820G>C	9.37:g.98232122C>G	ENSP00000332353:p.Arg607Thr					PTCH1_uc010mro.2_Missense_Mutation_p.R456T|PTCH1_uc010mrp.2_Missense_Mutation_p.R456T|PTCH1_uc010mrq.2_Missense_Mutation_p.R456T|PTCH1_uc004avl.3_Missense_Mutation_p.R456T|PTCH1_uc010mrr.2_Missense_Mutation_p.R541T|PTCH1_uc004avm.3_Missense_Mutation_p.R606T|PTCH1_uc010mrs.1_Missense_Mutation_p.R275T	p.R607T	NM_000264	NP_000255	Q13635	PTC1_HUMAN			13	2008	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	607			Cytoplasmic (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.1820G>C	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	32	5.173807	0.94807	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	D;D;D;D;D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91;-3.91;-3.91;-3.91;-3.91	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.98033	0.9352	M	0.90650	3.135	0.80722	D	1	P;P;D;D	0.57899	0.923;0.891;0.957;0.981	P;P;P;D	0.63793	0.766;0.867;0.743;0.918	D	0.98519	1.0622	10	0.72032	D	0.01	-18.7683	19.3137	0.94202	0.0:1.0:0.0:0.0	.	456;541;606;607	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	T	607;541;456;456;43;541;456;606;272	ENSP00000332353:R607T;ENSP00000389744:R541T;ENSP00000399981:R456T;ENSP00000396135:R456T;ENSP00000410287:R541T;ENSP00000414823:R456T;ENSP00000364423:R606T;ENSP00000364420:R272T	ENSP00000332353:R607T	R	-	2	0	PTCH1	97271943	1.000000	0.71417	0.987000	0.45799	0.983000	0.72400	7.317000	0.79018	2.788000	0.95919	0.650000	0.86243	AGA		PASS	0.463	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		6	182	6	182	---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101830921	101830921	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr9:101830921G>C	ENST00000375001.3	+	41	4345	c.3922G>C	c.(3922-3924)Gat>Cat	p.D1308H		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1308	Nonhelical region 10 (NC10).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.D1308H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ATACTCCTTTGATGGTCGAGA	0.393																																						uc004azb.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(3922-3924)GAT>CAT		alpha 1 type XV collagen precursor							183.0	161.0	169.0					9																	101830921		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101830921G>C	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.3922G>C	9.37:g.101830921G>C	ENSP00000364140:p.Asp1308His						p.D1308H	NM_001855	NP_001846	P39059	COFA1_HUMAN			41	4128	+		Acute lymphoblastic leukemia(62;0.0562)	1308			Nonhelical region 10 (NC10).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.3922G>C	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689020	0.68271	.	.	ENSG00000204291	ENST00000375001	T	0.55052	0.54	5.34	5.34	0.76211	Collagenase NC10/endostatin (1);C-type lectin fold (1);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.74215	0.3687	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73100	-0.4089	10	0.36615	T	0.2	-21.6745	18.171	0.89745	0.0:0.0:1.0:0.0	.	1308	P39059	COFA1_HUMAN	H	1308	ENSP00000364140:D1308H	ENSP00000364140:D1308H	D	+	1	0	COL15A1	100870742	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.977000	0.88081	2.674000	0.91012	0.655000	0.94253	GAT		PASS	0.393	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		58	64	58	64	---	---	---	---
OR13C5	138799	broad.mit.edu	37	9	107360818	107360818	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr9:107360818G>T	ENST00000374779.2	-	1	970	c.877C>A	c.(877-879)Cct>Act	p.P293T		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P293T(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TAGATTAAAGGATTCATCATG	0.368																																						uc011lvp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(877-879)CCT>ACT		olfactory receptor, family 13, subfamily C,							109.0	113.0	111.0					9																	107360818		2203	4300	6503	SO:0001583	missense	138799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107360818G>T		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.877C>A	9.37:g.107360818G>T	ENSP00000363911:p.Pro293Thr						p.P293T	NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN			1	877	-			293			Helical; Name=7; (Potential).		B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	c.877C>A	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144245	0.77888	.	.	ENSG00000255800	ENST00000374779	T	0.63913	-0.07	4.03	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36972	U	0.002318	D	0.88500	0.6453	H	0.99903	4.92	0.34789	D	0.735546	D	0.89917	1.0	D	0.72982	0.979	D	0.95323	0.8422	10	0.87932	D	0	.	13.7512	0.62908	0.0:0.0:1.0:0.0	.	293	Q8NGS8	O13C5_HUMAN	T	293	ENSP00000363911:P293T	ENSP00000363911:P293T	P	-	1	0	OR13C5	106400639	1.000000	0.71417	0.924000	0.36721	0.584000	0.36387	5.249000	0.65427	2.098000	0.63641	0.423000	0.28283	CCT		PASS	0.368	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		9	127	9	127	---	---	---	---
OR13C5	138799	broad.mit.edu	37	9	107361117	107361117	+	Nonsense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr9:107361117G>C	ENST00000374779.2	-	1	671	c.578C>G	c.(577-579)tCa>tGa	p.S193*		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S193*(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CTCATTGCCTGAGATGTCAGC	0.388																																						uc011lvp.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(577-579)TCA>TGA		olfactory receptor, family 13, subfamily C,							185.0	171.0	176.0					9																	107361117		2203	4300	6503	SO:0001587	stop_gained	138799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107361117G>C		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.578C>G	9.37:g.107361117G>C	ENSP00000363911:p.Ser193*						p.S193*	NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN			1	578	-			193			Extracellular (Potential).		B2RNE5|B9EGW5|Q6IF53	Nonsense_Mutation	SNP	ENST00000374779.2	37	c.578C>G	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805238	0.70682	.	.	ENSG00000255800	ENST00000374779	.	.	.	4.17	2.33	0.28932	.	0.000000	0.33382	U	0.004962	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	4.282	0.10838	0.2106:0.1898:0.5996:0.0	.	.	.	.	X	193	.	ENSP00000363911:S193X	S	-	2	0	OR13C5	106400938	0.000000	0.05858	0.002000	0.10522	0.365000	0.29674	-0.581000	0.05820	0.429000	0.26202	-0.347000	0.07816	TCA		PASS	0.388	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		12	184	12	184	---	---	---	---
MUSK	4593	broad.mit.edu	37	9	113563031	113563031	+	Silent	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr9:113563031C>A	ENST00000374448.4	+	15	2507	c.2373C>A	c.(2371-2373)gtC>gtA	p.V791V	MUSK_ENST00000416899.2_Silent_p.V783V|MUSK_ENST00000189978.5_Silent_p.V791V	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	791	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V791V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ATGGCGTGGTCCTCTGGGAGA	0.522																																						uc004bey.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)|central_nervous_system(1)	6						c.(2371-2373)GTC>GTA		skeletal muscle receptor tyrosine kinase							72.0	70.0	70.0					9																	113563031		2002	4197	6199	SO:0001819	synonymous_variant	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113563031C>A	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.2373C>A	9.37:g.113563031C>A						MUSK_uc004bez.1_Silent_p.V371V	p.V791V	NM_005592	NP_005583	O15146	MUSK_HUMAN			14	2471	+			791			Protein kinase.|Cytoplasmic (Potential).		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Silent	SNP	ENST00000374448.4	37	c.2373C>A	CCDS48005.1																																																																																				PASS	0.522	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	67	4	67	---	---	---	---
MUSK	4593	broad.mit.edu	37	9	113563049	113563049	+	Silent	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr9:113563049C>A	ENST00000374448.4	+	15	2525	c.2391C>A	c.(2389-2391)tcC>tcA	p.S797S	MUSK_ENST00000416899.2_Silent_p.S789S|MUSK_ENST00000189978.5_Silent_p.S797S	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	797	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S797S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AGATCTTCTCCTATGGCCTGC	0.547																																						uc004bey.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)|central_nervous_system(1)	6						c.(2389-2391)TCC>TCA		skeletal muscle receptor tyrosine kinase							65.0	64.0	64.0					9																	113563049		2013	4195	6208	SO:0001819	synonymous_variant	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113563049C>A	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.2391C>A	9.37:g.113563049C>A						MUSK_uc004bez.1_Silent_p.S377S	p.S797S	NM_005592	NP_005583	O15146	MUSK_HUMAN			14	2489	+			797			Protein kinase.|Cytoplasmic (Potential).		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Silent	SNP	ENST00000374448.4	37	c.2391C>A	CCDS48005.1																																																																																				PASS	0.547	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	68	4	68	---	---	---	---
ZNF483	158399	broad.mit.edu	37	9	114305440	114305440	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr9:114305440C>T	ENST00000309235.5	+	6	2383	c.2225C>T	c.(2224-2226)tCt>tTt	p.S742F	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	742					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.S742F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GGATTTCACTCTGCAGAGTAA	0.378																																						uc004bff.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2224-2226)TCT>TTT		zinc finger protein 483 isoform a							48.0	49.0	49.0					9																	114305440		2198	4286	6484	SO:0001583	missense	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114305440C>T	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.2225C>T	9.37:g.114305440C>T	ENSP00000311679:p.Ser742Phe					ZNF483_uc004bfg.2_Intron	p.S742F	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN			6	2449	+			742					Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	c.2225C>T	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274764	0.40194	.	.	ENSG00000173258	ENST00000309235	T	0.04970	3.52	4.2	3.28	0.37604	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.193700	0.06215	N	0.685782	T	0.12263	0.0298	L	0.60455	1.87	0.80722	D	1	D	0.56521	0.976	P	0.44732	0.459	T	0.17930	-1.0353	10	0.87932	D	0	-3.5809	12.0028	0.53241	0.0:0.8158:0.1842:0.0	.	742	Q8TF39	ZN483_HUMAN	F	742	ENSP00000311679:S742F	ENSP00000311679:S742F	S	+	2	0	ZNF483	113345261	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	0.910000	0.28571	1.329000	0.45376	0.591000	0.81541	TCT		PASS	0.378	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		5	105	5	105	---	---	---	---
RGS3	5998	broad.mit.edu	37	9	116346524	116346524	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr9:116346524G>T	ENST00000374140.2	+	21	3041	c.2832G>T	c.(2830-2832)gaG>gaT	p.E944D	RGS3_ENST00000350696.5_Missense_Mutation_p.E944D|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000343817.5_Missense_Mutation_p.E663D|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462143.1_Missense_Mutation_p.E265D|RGS3_ENST00000374134.3_Missense_Mutation_p.E265D	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	944					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.E840D(1)|p.E944D(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CGCACAGCGAGGGCAGCCTGC	0.697																																						uc004bhq.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|skin(1)	3						c.(2830-2832)GAG>GAT		regulator of G-protein signalling 3 isoform 6																																				SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116346524G>T	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.2832G>T	9.37:g.116346524G>T	ENSP00000363255:p.Glu944Asp					RGS3_uc004bhs.2_Missense_Mutation_p.E834D|RGS3_uc004bht.2_Missense_Mutation_p.E663D|RGS3_uc010muy.2_Intron|RGS3_uc004bhv.2_Missense_Mutation_p.E265D|RGS3_uc010muz.1_Missense_Mutation_p.E283D|RGS3_uc004bhw.2_Intron|RGS3_uc011lxh.1_Missense_Mutation_p.E254D|RGS3_uc004bhx.2_Missense_Mutation_p.E265D|RGS3_uc004bhy.1_Missense_Mutation_p.E254D|RGS3_uc004bhz.2_Missense_Mutation_p.E286D	p.E944D	NM_144488	NP_652759	P49796	RGS3_HUMAN			21	3041	+			944					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.2832G>T	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261187	0.80246	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000474719;ENST00000462143;ENST00000374134;ENST00000467805	T;T;T;T;T;D	0.89415	0.28;0.28;-0.18;-0.39;-0.39;-2.51	5.52	4.63	0.57726	.	0.130064	0.49916	D	0.000126	D	0.90345	0.6979	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.996;1.0;0.996;0.993;0.997	D;P;D;P;P;P	0.91635	0.999;0.874;0.997;0.874;0.751;0.886	D	0.90198	0.4255	10	0.54805	T	0.06	.	11.2479	0.49008	0.0852:0.0:0.9148:0.0	.	283;840;265;663;834;944	B4DWF9;P49796-6;Q6ZV17;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	D	944;944;663;112;265;265;110	ENSP00000363255:E944D;ENSP00000259406:E944D;ENSP00000340284:E663D;ENSP00000420356:E265D;ENSP00000363249:E265D;ENSP00000417994:E110D	ENSP00000340284:E663D	E	+	3	2	RGS3	115386345	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.666000	0.68059	1.315000	0.45114	0.555000	0.69702	GAG		PASS	0.697	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		15	45	15	45	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119249649	119249649	+	Missense_Mutation	SNP	G	G	T	rs577478546		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr9:119249649G>T	ENST00000313400.4	-	20	3586	c.3486C>A	c.(3484-3486)gaC>gaA	p.D1162E	ASTN2_ENST00000341734.4_Missense_Mutation_p.D214E|ASTN2_ENST00000361209.2_Missense_Mutation_p.D1111E|ASTN2_ENST00000361477.3_Missense_Mutation_p.D214E|ASTN2_ENST00000373996.3_Missense_Mutation_p.D1158E|ASTN2_ENST00000288520.5_Missense_Mutation_p.D263E			O75129	ASTN2_HUMAN	astrotactin 2	1162	Fibronectin type-III.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.D1111E(1)|p.D214E(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGTAGAGACCGTCGGGCTCCA	0.507																																						uc004bjs.1																			2	Substitution - Missense(2)		lung(2)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(3484-3486)GAC>GAA		astrotactin 2 isoform c							125.0	111.0	116.0					9																	119249649		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119249649G>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3486C>A	9.37:g.119249649G>T	ENSP00000314038:p.Asp1162Glu					ASTN2_uc004bjr.1_Missense_Mutation_p.D1158E|ASTN2_uc004bjt.1_Missense_Mutation_p.D1111E|ASTN2_uc004bjp.1_Missense_Mutation_p.D255E|ASTN2_uc004bjq.1_Missense_Mutation_p.D214E|ASTN2_uc011lxr.1_Missense_Mutation_p.D214E|ASTN2_uc011lxs.1_Missense_Mutation_p.D214E|ASTN2_uc011lxt.1_Missense_Mutation_p.D214E|ASTN2_uc004bjo.1_5'UTR	p.D1162E	NM_198187	NP_937830	O75129	ASTN2_HUMAN			20	3587	-			1162			Extracellular (Potential).|Fibronectin type-III.		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.3486C>A		.	.	.	.	.	.	.	.	.	.	G	16.07	3.018271	0.54576	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.49	-2.45	0.06481	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	L	0.36672	1.1	0.48452	D	0.999651	D;D;D;D;D;D;D	0.89917	0.996;0.996;0.999;0.997;1.0;0.996;0.996	D;D;D;D;D;D;D	0.76575	0.988;0.988;0.952;0.988;0.986;0.988;0.988	T	0.48801	-0.9003	10	0.87932	D	0	-27.3972	12.4452	0.55647	0.7599:0.0:0.2401:0.0	.	214;214;1111;1162;1158;214;263	B7ZKP4;B7ZKP5;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;ASTN2_HUMAN;.;.;.	E	1162;1158;263;214;885;1111;214	ENSP00000314038:D1162E;ENSP00000363108:D1158E;ENSP00000288520:D263E;ENSP00000339925:D214E;ENSP00000363098:D885E;ENSP00000354504:D1111E;ENSP00000355116:D214E	ENSP00000288520:D263E	D	-	3	2	ASTN2	118289470	0.997000	0.39634	0.980000	0.43619	0.963000	0.63663	0.426000	0.21363	-0.238000	0.09724	-0.140000	0.14226	GAC		PASS	0.507	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		61	63	61	63	---	---	---	---
TRIM32	22954	broad.mit.edu	37	9	119460298	119460298	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr9:119460298G>T	ENST00000450136.1	+	2	438	c.277G>T	c.(277-279)Gag>Tag	p.E93*	ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|TRIM32_ENST00000373983.2_Nonsense_Mutation_p.E93*|ASTN2_ENST00000373996.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	93					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E93*(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						TGGGCTCAGCGAGGCTGTGGG	0.587																																					Esophageal Squamous(92;212 1916 19711 26951)	uc004bjx.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)|kidney(1)	3						c.(277-279)GAG>TAG		tripartite motif-containing 32							70.0	67.0	68.0					9																	119460298		2203	4300	6503	SO:0001587	stop_gained	22954	Bardet-Biedl_syndrome			fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119460298G>T	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.277G>T	9.37:g.119460298G>T	ENSP00000408292:p.Glu93*					ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Nonsense_Mutation_p.E93*	p.E93*	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN			2	435	+			93					Q9NQP8	Nonsense_Mutation	SNP	ENST00000450136.1	37	c.277G>T	CCDS6817.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930557	0.73327	.	.	ENSG00000119401	ENST00000450136;ENST00000373983;ENST00000411410	.	.	.	5.36	5.36	0.76844	.	0.162227	0.40469	N	0.001097	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.3697	14.672	0.68951	0.0:0.145:0.855:0.0	.	.	.	.	X	93	.	.	E	+	1	0	TRIM32	118500119	1.000000	0.71417	0.993000	0.49108	0.954000	0.61252	4.681000	0.61663	2.486000	0.83907	0.655000	0.94253	GAG		PASS	0.587	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		5	107	5	107	---	---	---	---
ITIH2	3698	broad.mit.edu	37	10	7763616	7763616	+	Missense_Mutation	SNP	A	A	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr10:7763616A>T	ENST00000358415.4	+	8	909	c.743A>T	c.(742-744)cAc>cTc	p.H248L	ITIH2_ENST00000379587.4_Missense_Mutation_p.H237L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	248					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.H248L(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTCTAGGCGCACGTCTCCTTC	0.582																																						uc001ijs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(742-744)CAC>CTC		inter-alpha globulin inhibitor H2 polypeptide							133.0	120.0	124.0					10																	7763616		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7763616A>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.743A>T	10.37:g.7763616A>T	ENSP00000351190:p.His248Leu						p.H248L	NM_002216	NP_002207	P19823	ITIH2_HUMAN			8	905	+			248					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.743A>T	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	A	19.01	3.742890	0.69418	.	.	ENSG00000151655	ENST00000358415;ENST00000429820;ENST00000379587	T;T;T	0.20332	4.72;2.08;4.71	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.50548	0.1622	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57946	-0.7723	10	0.87932	D	0	-27.2202	15.2328	0.73404	1.0:0.0:0.0:0.0	.	248	P19823	ITIH2_HUMAN	L	248;223;237	ENSP00000351190:H248L;ENSP00000388826:H223L;ENSP00000368906:H237L	ENSP00000351190:H248L	H	+	2	0	ITIH2	7803622	1.000000	0.71417	0.383000	0.26132	0.555000	0.35460	6.660000	0.74417	1.999000	0.58509	0.379000	0.24179	CAC		PASS	0.582	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		71	70	71	70	---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29811396	29811396	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr10:29811396G>A	ENST00000355867.4	-	16	4084	c.3332C>T	c.(3331-3333)aCg>aTg	p.T1111M	SVIL_ENST00000375398.2_Missense_Mutation_p.T1111M|SVIL_ENST00000535393.1_Missense_Mutation_p.T9M|SVIL_ENST00000375400.3_Missense_Mutation_p.T685M	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1111					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.T1111M(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCCTGTCGGCGTTTTGATCTC	0.517																																						uc001iut.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(3331-3333)ACG>ATG		supervillin isoform 2							82.0	81.0	82.0					10																	29811396		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29811396G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.3332C>T	10.37:g.29811396G>A	ENSP00000348128:p.Thr1111Met					SVIL_uc010qdw.1_Missense_Mutation_p.T9M|SVIL_uc001iuu.1_Missense_Mutation_p.T685M	p.T1111M	NM_021738	NP_068506	O95425	SVIL_HUMAN			16	4085	-		Breast(68;0.103)	1111					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.3332C>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	8.548	0.874891	0.17395	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994	T;T;T;T	0.13196	2.73;2.79;2.79;2.61	5.95	-0.985	0.10256	.	1.304990	0.04802	N	0.433565	T	0.10252	0.0251	N	0.19112	0.55	0.09310	N	1	B;B;B	0.19331	0.006;0.035;0.003	B;B;B	0.15052	0.008;0.012;0.002	T	0.39313	-0.9620	10	0.31617	T	0.26	-2.2234	11.5123	0.50500	0.5523:0.0:0.4477:0.0	.	9;685;1111	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	M	685;1111;1111;9;65	ENSP00000364549:T685M;ENSP00000364547:T1111M;ENSP00000348128:T1111M;ENSP00000445472:T9M	ENSP00000348128:T1111M	T	-	2	0	SVIL	29851402	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.529000	0.06186	-0.066000	0.12998	0.655000	0.94253	ACG		PASS	0.517	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			11	129	11	129	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30317688	30317688	+	Silent	SNP	C	C	G	rs374264670		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr10:30317688C>G	ENST00000375377.1	-	3	1490	c.1389G>C	c.(1387-1389)ccG>ccC	p.P463P		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	463					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.P463P(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTCCATGAGCCGGCTCTTGAG	0.512																																						uc001iux.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(1387-1389)CCG>CCC		hypothetical protein LOC57608							69.0	72.0	71.0					10																	30317688		1881	4114	5995	SO:0001819	synonymous_variant	57608							g.chr10:30317688C>G	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1389G>C	10.37:g.30317688C>G						KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.P325P|KIAA1462_uc009xle.1_Silent_p.P463P	p.P463P	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	1448	-			463					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	c.1389G>C	CCDS41500.1																																																																																				PASS	0.512	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		47	159	47	159	---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31810369	31810369	+	Silent	SNP	A	A	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr10:31810369A>G	ENST00000320985.10	+	7	2216	c.2106A>G	c.(2104-2106)acA>acG	p.T702T	ZEB1_ENST00000542815.3_Silent_p.T635T|ZEB1_ENST00000560721.2_Silent_p.T682T|ZEB1_ENST00000361642.5_Silent_p.T703T|ZEB1_ENST00000446923.2_Silent_p.T686T|ZEB1_ENST00000559858.1_3'UTR			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	702					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.T702T(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GAAGTAGTACACCATCCCCAT	0.463																																					Ovarian(40;423 959 14296 36701 49589)	uc001ivs.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)	5						c.(2104-2106)ACA>ACG		zinc finger E-box binding homeobox 1 isoform b							91.0	80.0	84.0					10																	31810369		2203	4300	6503	SO:0001819	synonymous_variant	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31810369A>G	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2106A>G	10.37:g.31810369A>G						ZEB1_uc001ivr.3_Silent_p.T484T|ZEB1_uc010qee.1_Silent_p.T484T|ZEB1_uc010qef.1_Silent_p.T484T|ZEB1_uc009xlj.1_Silent_p.T628T|ZEB1_uc010qeg.1_Silent_p.T561T|ZEB1_uc009xlk.1_Silent_p.T484T|ZEB1_uc001ivt.3_Silent_p.T484T|ZEB1_uc001ivu.3_Silent_p.T703T|ZEB1_uc001ivv.3_Silent_p.T682T|ZEB1_uc010qeh.1_Silent_p.T635T|ZEB1_uc009xlo.1_Silent_p.T685T|ZEB1_uc009xlp.2_Silent_p.T686T	p.T702T	NM_030751	NP_110378	P37275	ZEB1_HUMAN			7	2169	+		Prostate(175;0.0156)	702					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	ENST00000320985.10	37	c.2106A>G	CCDS7169.1																																																																																				PASS	0.463	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		98	62	98	62	---	---	---	---
GJD4	219770	broad.mit.edu	37	10	35897272	35897272	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr10:35897272C>G	ENST00000321660.1	+	2	989	c.831C>G	c.(829-831)agC>agG	p.S277R	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	277					cell communication (GO:0007154)|regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014717)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.S277R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGGCTGGCAGCCCCAGGCGTA	0.706																																						uc001iyy.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(829-831)AGC>AGG		connexin40.1							11.0	11.0	11.0					10																	35897272		2118	4156	6274	SO:0001583	missense	219770				cell communication	connexon complex|integral to membrane		g.chr10:35897272C>G	AJ414564	CCDS7191.1	10p11.22	2007-11-27			ENSG00000177291	ENSG00000177291		"""Ion channels / Gap junction proteins (connexins)"""	23296	protein-coding gene	gene with protein product	"""connexin 40.1"""	611922				12477932	Standard	NM_153368		Approved	CX40.1, FLJ90023	uc001iyy.1	Q96KN9	OTTHUMG00000017957	ENST00000321660.1:c.831C>G	10.37:g.35897272C>G	ENSP00000315070:p.Ser277Arg						p.S277R	NM_153368	NP_699199	Q96KN9	CXD4_HUMAN			2	989	+			277			Cytoplasmic (Potential).		Q8N2R7	Missense_Mutation	SNP	ENST00000321660.1	37	c.831C>G	CCDS7191.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.203578	0.38905	.	.	ENSG00000177291	ENST00000321660	D	0.98362	-4.89	4.87	1.72	0.24424	.	2.568010	0.01297	N	0.010196	D	0.95357	0.8493	L	0.29908	0.895	0.29597	N	0.847974	B	0.16166	0.016	B	0.17722	0.019	D	0.89500	0.3763	10	0.27785	T	0.31	.	5.2759	0.15649	0.3594:0.543:0.0:0.0975	.	277	Q96KN9	CXD4_HUMAN	R	277	ENSP00000315070:S277R	ENSP00000315070:S277R	S	+	3	2	GJD4	35937278	0.000000	0.05858	0.171000	0.22900	0.019000	0.09904	-2.204000	0.01233	0.560000	0.29169	0.467000	0.42956	AGC		PASS	0.706	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047576.1	NM_153368		2	1	2	1	---	---	---	---
BMS1	9790	broad.mit.edu	37	10	43317572	43317572	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr10:43317572G>A	ENST00000374518.5	+	19	3135	c.3072G>A	c.(3070-3072)gtG>gtA	p.V1024V		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1024					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.V1024V(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TAAAAATTGTGAAGAAATTAA	0.294																																						uc001jaj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(3070-3072)GTG>GTA		BMS1-like, ribosome assembly protein							39.0	53.0	48.0					10																	43317572		1171	2197	3368	SO:0001819	synonymous_variant	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43317572G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3072G>A	10.37:g.43317572G>A							p.V1024V	NM_014753	NP_055568	Q14692	BMS1_HUMAN			19	3430	+			1024					Q5QPT5|Q86XJ9	Silent	SNP	ENST00000374518.5	37	c.3072G>A	CCDS7199.1																																																																																				PASS	0.294	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		40	124	40	124	---	---	---	---
CCDC6	8030	broad.mit.edu	37	10	61564231	61564231	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr10:61564231G>T	ENST00000263102.6	-	7	1283	c.1052C>A	c.(1051-1053)tCc>tAc	p.S351Y		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	351						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)	p.S351Y(1)	CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		GATCGGGCTGGACACAGTGCG	0.453			T	RET	NSCLC																																	uc001jks.3				Dom	yes		10	10q21	8030		coiled-coil domain containing 6			E					1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1051-1053)TCC>TAC		coiled-coil domain containing 6							181.0	160.0	167.0					10																	61564231		2203	4300	6503	SO:0001583	missense	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61564231G>T	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.1052C>A	10.37:g.61564231G>T	ENSP00000263102:p.Ser351Tyr						p.S351Y	NM_005436	NP_005427	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	7	1688	-			351					Q15250|Q6GSG7	Missense_Mutation	SNP	ENST00000263102.6	37	c.1052C>A	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644014	0.87859	.	.	ENSG00000108091	ENST00000263102	T	0.60040	0.22	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.74405	0.3712	M	0.61703	1.905	0.80722	D	1	D	0.61697	0.99	D	0.71656	0.974	T	0.74284	-0.3715	10	0.51188	T	0.08	-11.5362	19.3389	0.94334	0.0:0.0:1.0:0.0	.	351	Q16204	CCDC6_HUMAN	Y	351	ENSP00000263102:S351Y	ENSP00000263102:S351Y	S	-	2	0	CCDC6	61234237	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.867000	0.87062	2.593000	0.87608	0.655000	0.94253	TCC		PASS	0.453	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		60	60	60	60	---	---	---	---
COL13A1	1305	broad.mit.edu	37	10	71658503	71658503	+	Missense_Mutation	SNP	A	A	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr10:71658503A>C	ENST00000398978.3	+	14	1257	c.765A>C	c.(763-765)aaA>aaC	p.K255N	COL13A1_ENST00000398972.3_Missense_Mutation_p.K255N|COL13A1_ENST00000517713.1_Intron|COL13A1_ENST00000398969.3_Missense_Mutation_p.K198N|COL13A1_ENST00000354547.3_Intron|COL13A1_ENST00000520267.1_Missense_Mutation_p.K198N|COL13A1_ENST00000356340.3_Missense_Mutation_p.K255N|COL13A1_ENST00000398968.3_Missense_Mutation_p.K236N|COL13A1_ENST00000398971.3_Missense_Mutation_p.K255N|COL13A1_ENST00000398966.3_Intron|COL13A1_ENST00000398973.3_Missense_Mutation_p.K255N|COL13A1_ENST00000522165.1_Missense_Mutation_p.K236N|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000398964.3_Missense_Mutation_p.K226N|COL13A1_ENST00000357811.3_Intron|COL13A1_ENST00000398974.3_Missense_Mutation_p.K243N	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1									p.K238N(1)|p.K255N(1)		endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						CGGTCATAAAAAGGCGGACGT	0.587																																						uc001jpr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(763-765)AAA>AAC		alpha 1 type XIII collagen isoform 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						80.0	78.0	78.0					10																	71658503		1998	4158	6156	SO:0001583	missense	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71658503A>C	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.765A>C	10.37:g.71658503A>C	ENSP00000381949:p.Lys255Asn					COL13A1_uc001jqj.1_Missense_Mutation_p.K255N|COL13A1_uc001jps.1_Missense_Mutation_p.K226N|COL13A1_uc001jpt.1_Intron|COL13A1_uc001jpu.1_Missense_Mutation_p.K236N|COL13A1_uc001jpv.1_Missense_Mutation_p.K255N|COL13A1_uc001jpx.1_Intron|COL13A1_uc001jpw.1_Intron|COL13A1_uc001jpy.1_Intron|COL13A1_uc001jpz.1_Missense_Mutation_p.K198N|COL13A1_uc001jqa.1_Intron|COL13A1_uc001jqc.1_Missense_Mutation_p.K255N|COL13A1_uc001jqb.1_Intron|COL13A1_uc001jql.2_Missense_Mutation_p.K255N|COL13A1_uc001jqd.1_Missense_Mutation_p.K243N|COL13A1_uc001jqe.1_Missense_Mutation_p.K238N|COL13A1_uc001jqf.1_Missense_Mutation_p.K236N|COL13A1_uc001jqg.1_Intron|COL13A1_uc001jqh.1_Missense_Mutation_p.K255N|COL13A1_uc001jqi.1_Missense_Mutation_p.K255N|COL13A1_uc010qjf.1_Missense_Mutation_p.K45N|COL13A1_uc001jqk.1_Intron	p.K255N	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN			13	1301	+			255			Extracellular (Potential).|Nonhelical region 2 (NC2).			Missense_Mutation	SNP	ENST00000398978.3	37	c.765A>C	CCDS44419.1	.	.	.	.	.	.	.	.	.	.	A	14.81	2.647960	0.47258	.	.	ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000520267;ENST00000522165	D;D;D;D;D;D;D;D;D;D;D	0.93247	-2.87;-2.86;-3.19;-3.01;-2.82;-2.93;-2.84;-2.94;-2.94;-2.78;-2.82	5.38	4.24	0.50183	.	0.311187	0.31113	N	0.008225	D	0.90728	0.7090	N	0.08118	0	0.43321	D	0.995343	D;D;D;D;B;B;D;D;D;D;D;D;D	0.76494	0.998;0.971;0.999;0.999;0.1;0.03;0.996;0.997;0.998;0.998;0.999;0.998;0.994	D;P;D;D;B;B;P;P;D;P;D;D;P	0.80764	0.987;0.651;0.994;0.994;0.022;0.022;0.794;0.811;0.987;0.898;0.994;0.987;0.856	D	0.89722	0.3920	10	0.66056	D	0.02	-6.1487	6.5988	0.22689	0.7711:0.0:0.2289:0.0	.	198;255;255;255;255;236;255;243;255;255;236;226;255	B9EGD2;Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES51;E7ES47;E7ES46;E7ES49;Q5TAT6-7;Q5TAT6-8;E7ES56;G5E987	.;CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.	N	243;255;236;226;198;255;255;255;255;198;236	ENSP00000381946:K243N;ENSP00000381943:K255N;ENSP00000381940:K236N;ENSP00000381936:K226N;ENSP00000381941:K198N;ENSP00000348695:K255N;ENSP00000381944:K255N;ENSP00000381945:K255N;ENSP00000381949:K255N;ENSP00000428057:K198N;ENSP00000428342:K236N	ENSP00000348695:K255N	K	+	3	2	COL13A1	71328509	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.397000	0.59690	0.985000	0.38656	0.533000	0.62120	AAA		PASS	0.587	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		11	14	11	14	---	---	---	---
MICU1	10367	broad.mit.edu	37	10	74322751	74322751	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr10:74322751C>G	ENST00000361114.5	-	3	328	c.232G>C	c.(232-234)Gat>Cat	p.D78H	MICU1_ENST00000398761.4_Missense_Mutation_p.D78H|MICU1_ENST00000401998.3_Missense_Mutation_p.D78H|MICU1_ENST00000604025.1_5'UTR	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	78					calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)	p.D78H(1)									TCCCCTTCATCTTTATTCTTC	0.403																																						uc001jtb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(232-234)GAT>CAT		calcium binding atopy-related autoantigen 1							200.0	169.0	179.0					10																	74322751		1861	4102	5963	SO:0001583	missense	10367				calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr10:74322751C>G	Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"""EF-hand domain containing"""	1530	protein-coding gene	gene with protein product		605084	"""calcium binding atopy-related autoantigen 1"""	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.232G>C	10.37:g.74322751C>G	ENSP00000354415:p.Asp78His						p.D78H	NM_006077	NP_006068	Q9BPX6	MICU1_HUMAN			3	365	-			78					A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Missense_Mutation	SNP	ENST00000361114.5	37	c.232G>C	CCDS55715.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440543	0.43326	.	.	ENSG00000107745	ENST00000361114;ENST00000398761;ENST00000401998	D;D;D	0.81659	-1.52;-1.52;-1.52	5.5	5.5	0.81552	.	0.222293	0.47852	D	0.000218	T	0.78559	0.4302	L	0.58101	1.795	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.73767	-0.3879	10	0.48119	T	0.1	.	16.4769	0.84135	0.0:1.0:0.0:0.0	.	78	Q9BPX6	MICU1_HUMAN	H	78	ENSP00000354415:D78H;ENSP00000381745:D78H;ENSP00000384068:D78H	ENSP00000354415:D78H	D	-	1	0	MICU1	73992757	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	2.582000	0.46085	2.746000	0.94184	0.563000	0.77884	GAT		PASS	0.403	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1	NM_006077		15	47	15	47	---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	96033438	96033438	+	Silent	SNP	A	A	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr10:96033438A>G	ENST00000371380.3	+	18	4861	c.4626A>G	c.(4624-4626)ctA>ctG	p.L1542L	PLCE1_ENST00000371375.1_Silent_p.L1234L|PLCE1_ENST00000371385.3_Silent_p.L1234L|PLCE1_ENST00000260766.3_Silent_p.L1542L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1542					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.L1542L(1)|p.L1234L(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACAAGAAGCTAAAAGCCCATC	0.383																																						uc001kjk.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(4624-4626)CTA>CTG		phospholipase C, epsilon 1 isoform 1							108.0	101.0	103.0					10																	96033438		1842	4087	5929	SO:0001819	synonymous_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96033438A>G		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.4626A>G	10.37:g.96033438A>G						PLCE1_uc010qnx.1_Silent_p.L1526L|PLCE1_uc001kjm.2_Silent_p.L1234L	p.L1542L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			19	5260	+		Colorectal(252;0.0458)	1542					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.4626A>G	CCDS41552.1																																																																																				PASS	0.383	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		32	104	32	104	---	---	---	---
ALDH18A1	5832	broad.mit.edu	37	10	97393298	97393298	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr10:97393298C>T	ENST00000371224.2	-	6	804	c.667G>A	c.(667-669)Gat>Aat	p.D223N	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.D223N	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	223	Glutamate 5-kinase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)	p.D223N(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		ACAACAGCATCATTTGTGTTG	0.468																																						uc001kkz.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(667-669)GAT>AAT		pyrroline-5-carboxylate synthetase isoform 1	L-Glutamic Acid(DB00142)						146.0	119.0	128.0					10																	97393298		2203	4300	6503	SO:0001583	missense	5832				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity	g.chr10:97393298C>T	X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"""Aldehyde dehydrogenases"""	9722	protein-coding gene	gene with protein product		138250	"""pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"""	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.667G>A	10.37:g.97393298C>T	ENSP00000360268:p.Asp223Asn					ALDH18A1_uc001kky.2_Missense_Mutation_p.D223N|ALDH18A1_uc010qog.1_Missense_Mutation_p.D112N|ALDH18A1_uc010qoh.1_Missense_Mutation_p.D11N	p.D223N	NM_002860	NP_002851	P54886	P5CS_HUMAN		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	6	909	-		Colorectal(252;0.0402)	223			Glutamate 5-kinase.		B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Missense_Mutation	SNP	ENST00000371224.2	37	c.667G>A	CCDS7443.1	.	.	.	.	.	.	.	.	.	.	c	35	5.487267	0.96323	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	T;T	0.74526	-0.85;-0.85	6.05	6.05	0.98169	Aspartate/glutamate/uridylate kinase (3);	0.000000	0.85682	D	0.000000	D	0.92532	0.7628	H	0.99249	4.485	0.80722	D	1	D;D	0.63046	0.992;0.99	D;D	0.73708	0.981;0.968	D	0.95021	0.8160	10	0.87932	D	0	-20.1969	18.1072	0.89524	0.0:1.0:0.0:0.0	.	223;223	P54886;P54886-2	P5CS_HUMAN;.	N	223	ENSP00000360268:D223N;ENSP00000360265:D223N	ENSP00000360265:D223N	D	-	1	0	ALDH18A1	97383288	1.000000	0.71417	0.992000	0.48379	0.973000	0.67179	7.364000	0.79526	2.867000	0.98391	0.651000	0.88453	GAT		PASS	0.468	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1	NM_002860		4	161	4	161	---	---	---	---
GOT1	2805	broad.mit.edu	37	10	101190260	101190260	+	Silent	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr10:101190260G>T	ENST00000370508.5	-	1	90	c.63C>A	c.(61-63)ctC>ctA	p.L21L	RP11-441O15.3_ENST00000416191.2_lincRNA|GOT1_ENST00000471741.1_5'UTR|GOT1_ENST00000543866.1_5'Flank	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	21					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.L21L(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	AGTCGGCAGTGAGCTTGAAGA	0.597																																					Melanoma(173;770 3544 21601)	uc001kpr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(61-63)CTC>CTA		aspartate aminotransferase 1	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						112.0	109.0	110.0					10																	101190260		2203	4300	6503	SO:0001819	synonymous_variant	2805				aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr10:101190260G>T	M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"""aspartate aminotransferase 1"", ""aspartate transaminase 1"""	138180	"""glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"""			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.63C>A	10.37:g.101190260G>T						GOT1_uc009xwh.2_RNA|GOT1_uc009xwi.2_Silent_p.L21L	p.L21L	NM_002079	NP_002070	P17174	AATC_HUMAN		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	1	271	-		Ovarian(717;0.028)|Colorectal(252;0.234)	21					B2R6R7|B7Z7E9|Q5VW80	Silent	SNP	ENST00000370508.5	37	c.63C>A	CCDS7479.1																																																																																				PASS	0.597	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079		12	141	12	141	---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103920360	103920360	+	Silent	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr10:103920360G>C	ENST00000605788.1	+	10	1486	c.1251G>C	c.(1249-1251)ctG>ctC	p.L417L	NOLC1_ENST00000488254.2_Silent_p.L418L|NOLC1_ENST00000603742.1_Silent_p.L136L|NOLC1_ENST00000405356.1_Silent_p.L427L	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	417	11 X 12 AA approximate repeats of an acidic serine cluster.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)	p.L417L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		AGAAGCTTCTGACGAGAAAGG	0.562																																						uc001kuo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1249-1251)CTG>CTC		nucleolar and coiled-body phosphoprotein 1							58.0	54.0	55.0					10																	103920360		2203	4300	6503	SO:0001819	synonymous_variant	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103920360G>C	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.1251G>C	10.37:g.103920360G>C						NOLC1_uc001kup.2_Silent_p.L427L|NOLC1_uc001kuq.2_Silent_p.L418L|NOLC1_uc009xxb.1_Silent_p.L136L|NOLC1_uc001kur.2_Silent_p.L136L	p.L417L	NM_004741	NP_004732	Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	10	1486	+		Colorectal(252;0.122)	417			Nuclear localization signal (Potential).|11 X 12 AA approximate repeats of an acidic serine cluster.		Q15030|Q5VV70|Q9BUV3	Silent	SNP	ENST00000605788.1	37	c.1251G>C	CCDS7530.1																																																																																				PASS	0.562	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		21	50	21	50	---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103921374	103921374	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr10:103921374G>A	ENST00000605788.1	+	11	2038	c.1803G>A	c.(1801-1803)aaG>aaA	p.K601K	NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000488254.2_Silent_p.K602K|NOLC1_ENST00000603742.1_Silent_p.K320K|NOLC1_ENST00000405356.1_Silent_p.K611K	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	601					cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)	p.K601K(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CTCAGGCCAAGAAGATAAAGC	0.438																																						uc001kuo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1801-1803)AAG>AAA		nucleolar and coiled-body phosphoprotein 1							43.0	39.0	41.0					10																	103921374		2203	4300	6503	SO:0001819	synonymous_variant	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103921374G>A	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.1803G>A	10.37:g.103921374G>A						NOLC1_uc001kup.2_Silent_p.K611K|NOLC1_uc001kuq.2_Silent_p.K602K|NOLC1_uc009xxb.1_Silent_p.K320K|NOLC1_uc001kur.2_Silent_p.K320K	p.K601K	NM_004741	NP_004732	Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	11	2038	+		Colorectal(252;0.122)	601			Nuclear localization signal (Potential).		Q15030|Q5VV70|Q9BUV3	Silent	SNP	ENST00000605788.1	37	c.1803G>A	CCDS7530.1																																																																																				PASS	0.438	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		20	58	20	58	---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103921912	103921912	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr10:103921912G>A	ENST00000605788.1	+	13	2221	c.1986G>A	c.(1984-1986)ttG>ttA	p.L662L	NOLC1_ENST00000477977.1_Intron|NOLC1_ENST00000488254.2_Silent_p.L663L|NOLC1_ENST00000603742.1_Silent_p.L381L|NOLC1_ENST00000405356.1_Silent_p.L672L	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	662					cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)	p.L662L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		ATCAGGTTTTGAAGTTCACCA	0.532																																						uc001kuo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1984-1986)TTG>TTA		nucleolar and coiled-body phosphoprotein 1							148.0	163.0	158.0					10																	103921912		2203	4300	6503	SO:0001819	synonymous_variant	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103921912G>A	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.1986G>A	10.37:g.103921912G>A						NOLC1_uc001kup.2_Silent_p.L672L|NOLC1_uc001kuq.2_Silent_p.L663L|NOLC1_uc009xxb.1_Silent_p.L381L|NOLC1_uc001kur.2_Silent_p.L381L	p.L662L	NM_004741	NP_004732	Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	13	2221	+		Colorectal(252;0.122)	662					Q15030|Q5VV70|Q9BUV3	Silent	SNP	ENST00000605788.1	37	c.1986G>A	CCDS7530.1																																																																																				PASS	0.532	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		104	327	104	327	---	---	---	---
SH3PXD2A	9644	broad.mit.edu	37	10	105363329	105363329	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr10:105363329C>T	ENST00000369774.4	-	15	1922	c.1646G>A	c.(1645-1647)cGg>cAg	p.R549Q	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R521Q|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R384Q|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R416Q|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	549					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)	p.R521Q(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CTTGAGCTTCCGCGGGGAGTC	0.667																																						uc001kxj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1561-1563)CGG>CAG		SH3 multiple domains 1							39.0	43.0	42.0					10																	105363329		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105363329C>T	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1646G>A	10.37:g.105363329C>T	ENSP00000358789:p.Arg549Gln					SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.R356Q|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.R398Q|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.R356Q|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.R464Q	p.R521Q	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	14	1702	-		Colorectal(252;0.0815)|Breast(234;0.131)	549					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.1562G>A		.	.	.	.	.	.	.	.	.	.	C	0.295	-0.977699	0.02197	.	.	ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.47	-0.779	0.10973	.	0.757856	0.13120	N	0.412293	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	B;B;B;B	0.11235	0.004;0.004;0.004;0.002	B;B;B;B	0.08055	0.002;0.001;0.001;0.003	T	0.16158	-1.0412	10	0.21540	T	0.41	-0.615	0.796	0.01066	0.2612:0.134:0.3084:0.2964	.	549;398;394;521	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	SPD2A_HUMAN;.;.;.	Q	549;521;356;464;416;384	ENSP00000358789:R549Q;ENSP00000348215:R521Q;ENSP00000443663:R416Q;ENSP00000441514:R384Q	ENSP00000318135:R356Q	R	-	2	0	SH3PXD2A	105353319	0.001000	0.12720	0.170000	0.22879	0.156000	0.22039	0.491000	0.22419	-0.152000	0.11156	-0.258000	0.10820	CGG		PASS	0.667	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		24	125	24	125	---	---	---	---
OBFC1	79991	broad.mit.edu	37	10	105677328	105677328	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr10:105677328C>A	ENST00000224950.3	-	2	192	c.25G>T	c.(25-27)Gaa>Taa	p.E9*	OBFC1_ENST00000369764.1_Nonsense_Mutation_p.E9*|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	9					positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)	p.E9*(1)		large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		GTCTCCTCTTCACACCGGCTG	0.527																																						uc001kxl.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(25-27)GAA>TAA		oligonucleotide/oligosaccharide-binding fold							89.0	89.0	89.0					10																	105677328		2203	4300	6503	SO:0001587	stop_gained	79991				positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding	g.chr10:105677328C>A	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.25G>T	10.37:g.105677328C>A	ENSP00000224950:p.Glu9*					OBFC1_uc001kxm.2_Nonsense_Mutation_p.E9*|OBFC1_uc001kxn.2_RNA	p.E9*	NM_024928	NP_079204	Q9H668	STN1_HUMAN		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)	1	100	-		Colorectal(252;0.178)	9					D3DR99|Q5TCZ0	Nonsense_Mutation	SNP	ENST00000224950.3	37	c.25G>T	CCDS7552.1	.	.	.	.	.	.	.	.	.	.	C	39	7.664024	0.98419	.	.	ENSG00000107960	ENST00000224950;ENST00000369764	.	.	.	5.67	4.75	0.60458	.	0.230323	0.43747	D	0.000529	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-5.8436	13.0577	0.58990	0.1613:0.8387:0.0:0.0	.	.	.	.	X	9	.	ENSP00000224950:E9X	E	-	1	0	OBFC1	105667318	0.794000	0.28838	0.883000	0.34634	0.993000	0.82548	1.572000	0.36461	1.356000	0.45884	0.561000	0.74099	GAA		PASS	0.527	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	NM_024928		86	70	86	70	---	---	---	---
TCERG1L	256536	broad.mit.edu	37	10	132965127	132965127	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr10:132965127C>T	ENST00000368642.4	-	5	963	c.878G>A	c.(877-879)cGa>cAa	p.R293Q		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	293								p.R252Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GCGGGCCACTCGGCCCCGCTC	0.512																																						uc001lkp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)	4						c.(877-879)CGA>CAA		transcription elongation regulator 1-like							56.0	51.0	52.0					10																	132965127		2203	4300	6503	SO:0001583	missense	256536							g.chr10:132965127C>T	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.878G>A	10.37:g.132965127C>T	ENSP00000357631:p.Arg293Gln					TCERG1L_uc009yax.1_RNA	p.R293Q	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	5	964	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	293					Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	c.878G>A	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766258	0.31228	.	.	ENSG00000176769	ENST00000368642	T	0.26067	1.76	2.55	1.62	0.23740	.	0.247095	0.27469	N	0.019223	T	0.21307	0.0513	L	0.47716	1.5	0.09310	N	1	D	0.61080	0.989	P	0.45377	0.478	T	0.09773	-1.0659	10	0.33940	T	0.23	-2.9186	6.5927	0.22656	0.2852:0.7148:0.0:0.0	.	293	Q5VWI1	TCRGL_HUMAN	Q	293	ENSP00000357631:R293Q	ENSP00000357631:R293Q	R	-	2	0	TCERG1L	132855117	0.046000	0.20272	0.027000	0.17364	0.001000	0.01503	0.855000	0.27805	0.621000	0.30232	0.563000	0.77884	CGA		PASS	0.512	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		16	53	16	53	---	---	---	---
TCERG1L	256536	broad.mit.edu	37	10	132965137	132965137	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr10:132965137C>T	ENST00000368642.4	-	5	953	c.868G>A	c.(868-870)Gag>Aag	p.E290K		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	290								p.E249K(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CGGCCCCGCTCTGTCCTTGTA	0.527																																						uc001lkp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)	4						c.(868-870)GAG>AAG		transcription elongation regulator 1-like							48.0	45.0	46.0					10																	132965137		2203	4300	6503	SO:0001583	missense	256536							g.chr10:132965137C>T	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.868G>A	10.37:g.132965137C>T	ENSP00000357631:p.Glu290Lys					TCERG1L_uc009yax.1_RNA	p.E290K	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	5	954	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	290					Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	c.868G>A	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312855	0.40895	.	.	ENSG00000176769	ENST00000368642	T	0.26223	1.75	2.55	2.55	0.30701	.	0.219986	0.30528	N	0.009423	T	0.17916	0.0430	L	0.53249	1.67	0.37659	D	0.922682	P	0.39480	0.675	B	0.29077	0.098	T	0.13629	-1.0502	10	0.33141	T	0.24	-7.0995	8.7461	0.34587	0.0:1.0:0.0:0.0	.	290	Q5VWI1	TCRGL_HUMAN	K	290	ENSP00000357631:E290K	ENSP00000357631:E290K	E	-	1	0	TCERG1L	132855127	0.984000	0.35163	0.879000	0.34478	0.013000	0.08279	1.526000	0.35964	1.738000	0.51689	0.563000	0.77884	GAG		PASS	0.527	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		16	53	16	53	---	---	---	---
HRAS	3265	broad.mit.edu	37	11	533875	533875	+	Missense_Mutation	SNP	G	G	T	rs28933406		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr11:533875G>T	ENST00000451590.1	-	3	368	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	HRAS_ENST00000417302.1_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61K(61)|p.Q61R(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TACTCCTCCTGGCCGGCGGTA	0.597		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.2		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		rhadomyosarcoma|ganglioneuroblastoma|bladder	infrequent sarcomas|rare other types		63	Substitution - Missense(63)	p.Q61R(112)|p.Q61L(91)|p.Q61K(39)|p.Q61H(20)|p.Q61P(3)|p.Q61Q(1)|p.Q61E(1)	thyroid(23)|skin(18)|urinary_tract(8)|upper_aerodigestive_tract(4)|soft_tissue(4)|testis(2)|lung(2)|cervix(1)|kidney(1)	urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749						c.(181-183)CAG>AAG		v-Ha-ras Harvey rat sarcoma viral oncogene	Sulindac(DB00605)						117.0	102.0	107.0					11																	533875		2203	4300	6503	SO:0001583	missense	3265	Costello_syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533875G>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.181C>A	11.37:g.533875G>T	ENSP00000407586:p.Gln61Lys	HNSCC(11;0.0054)				HRAS_uc010qvw.1_Missense_Mutation_p.Q61K|HRAS_uc010qvx.1_Missense_Mutation_p.Q61K|HRAS_uc010qvy.1_RNA	p.Q61K	NM_005343	NP_005334	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61	Q->V: Strongly increased transformation of cultured cell lines.|Q->I: Moderately increased transformation of cultured cell lines.	Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).	GTP.		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.181C>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855718	0.51376	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	H	0.96604	3.85	0.80722	D	1	B;B	0.19073	0.033;0.012	B;B	0.19391	0.015;0.025	D	0.89618	0.3846	10	0.62326	D	0.03	.	14.8426	0.70237	0.0:0.0:1.0:0.0	rs28933406	61;61	P01112-2;P01112	.;RASH_HUMAN	K	61	ENSP00000380722:Q61K;ENSP00000380723:Q61K;ENSP00000407586:Q61K;ENSP00000388246:Q61K;ENSP00000309845:Q61K	ENSP00000309845:Q61K	Q	-	1	0	HRAS	523875	1.000000	0.71417	0.987000	0.45799	0.459000	0.32528	9.476000	0.97823	2.045000	0.60652	0.561000	0.74099	CAG		PASS	0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		25	72	25	72	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1017189	1017189	+	Nonsense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr11:1017189G>C	ENST00000421673.2	-	31	5662	c.5612C>G	c.(5611-5613)tCa>tGa	p.S1871*		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1871	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.S1871*(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTTGGCATTGAGTGGATGGA	0.572																																						uc001lsw.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(5611-5613)TCA>TGA		mucin 6, gastric							466.0	444.0	452.0					11																	1017189		2200	4287	6487	SO:0001587	stop_gained	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1017189G>C	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5612C>G	11.37:g.1017189G>C	ENSP00000406861:p.Ser1871*						p.S1871*	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	5663	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1871			Thr-rich.|2.|Approximate repeats.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Nonsense_Mutation	SNP	ENST00000421673.2	37	c.5612C>G	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	42	9.413501	0.99164	.	.	ENSG00000184956	ENST00000421673	.	.	.	2.81	0.728	0.18260	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	5.1154	0.14831	0.1275:0.0:0.6682:0.2043	.	.	.	.	X	1871	.	ENSP00000406861:S1871X	S	-	2	0	MUC6	1007189	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.493000	0.06459	0.037000	0.15575	0.313000	0.20887	TCA		PASS	0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		18	438	18	438	---	---	---	---
MUC2	4583	broad.mit.edu	37	11	1104220	1104220	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr11:1104220C>T	ENST00000441003.2	+	49	8438	c.8411C>T	c.(8410-8412)tCc>tTc	p.S2804F		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5166					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.S2804F(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACCGGCACCTCCCGCCGGGCC	0.706																																						uc001lsx.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(15496-15498)TCC>TTC		mucin 2 precursor	Pranlukast(DB01411)						17.0	21.0	19.0					11																	1104220		1870	4092	5962	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1104220C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.8411C>T	11.37:g.1104220C>T	ENSP00000415183:p.Ser2804Phe						p.S5166F	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	52	15524	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	5166					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.15497C>T		.	.	.	.	.	.	.	.	.	.	C	3.096	-0.185805	0.06340	.	.	ENSG00000198788	ENST00000441003	T	0.12774	2.65	2.22	1.24	0.21308	.	.	.	.	.	T	0.06735	0.0172	N	0.14661	0.345	0.09310	N	1	B	0.29432	0.244	B	0.19666	0.026	T	0.32613	-0.9900	9	0.56958	D	0.05	.	4.4975	0.11844	0.2572:0.4903:0.2525:0.0	.	2804	E7EUV1	.	F	2804	ENSP00000415183:S2804F	ENSP00000415183:S2804F	S	+	2	0	MUC2	1094220	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.216000	0.09266	0.262000	0.21774	-0.500000	0.04577	TCC		PASS	0.706	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		3	13	3	13	---	---	---	---
MRPL23	6150	broad.mit.edu	37	11	1977643	1977643	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr11:1977643G>T	ENST00000397298.3	+	5	540	c.455G>T	c.(454-456)gGg>gTg	p.G152V	MRPL23_ENST00000397294.3_Intron|MRPL23_ENST00000381519.1_Missense_Mutation_p.G152V|MRPL23_ENST00000397297.3_Intron|MRPL23_ENST00000381514.3_Intron	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	152					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.G152V(1)		large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		AGCTGGTTCGGGCTGTGACGG	0.736																																						uc001lux.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)	3						c.(454-456)GGG>GTG		mitochondrial ribosomal protein L23							16.0	18.0	18.0					11																	1977643		2194	4290	6484	SO:0001583	missense	6150				translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome	g.chr11:1977643G>T	AB051340	CCDS31336.1	11p15.5	2012-09-13			ENSG00000214026	ENSG00000214026		"""Mitochondrial ribosomal proteins / large subunits"""	10322	protein-coding gene	gene with protein product		600789		RPL23L		8541832	Standard	NM_021134		Approved	L23MRP	uc001lux.3	Q16540	OTTHUMG00000012476	ENST00000397298.3:c.455G>T	11.37:g.1977643G>T	ENSP00000380466:p.Gly152Val						p.G152V	NM_021134	NP_066957	Q16540	RM23_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)	5	546	+		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	152					A8MT29|Q96Q71	Missense_Mutation	SNP	ENST00000397298.3	37	c.455G>T	CCDS31336.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200166	0.58126	.	.	ENSG00000214026	ENST00000397298;ENST00000381519	T;T	0.15256	2.44;2.44	4.41	3.41	0.39046	.	.	.	.	.	T	0.36580	0.0972	M	0.69358	2.11	0.80722	D	1	D	0.61697	0.99	D	0.65684	0.937	T	0.21999	-1.0229	9	0.72032	D	0.01	.	12.9737	0.58527	0.0:0.1641:0.8359:0.0	.	152	Q16540	RM23_HUMAN	V	152	ENSP00000380466:G152V;ENSP00000370930:G152V	ENSP00000370930:G152V	G	+	2	0	MRPL23	1934219	0.992000	0.36948	0.941000	0.38009	0.007000	0.05969	2.886000	0.48578	2.170000	0.68504	0.555000	0.69702	GGG		PASS	0.736	MRPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034765.2	NM_021134		32	3	32	3	---	---	---	---
OR51I1	390063	broad.mit.edu	37	11	5462615	5462615	+	Missense_Mutation	SNP	T	T	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr11:5462615T>A	ENST00000380211.1	-	1	129	c.130A>T	c.(130-132)Aac>Tac	p.N44Y	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	44					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.N44Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCTGAGGTTACCTACAATG	0.512																																						uc010qze.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(130-132)AAC>TAC		olfactory receptor, family 51, subfamily I,							123.0	118.0	120.0					11																	5462615		2201	4297	6498	SO:0001583	missense	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5462615T>A	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.130A>T	11.37:g.5462615T>A	ENSP00000369559:p.Asn44Tyr					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.N44Y	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	130	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	44			Helical; Name=1; (Potential).		B9EKW2|Q6IF33	Missense_Mutation	SNP	ENST00000380211.1	37	c.130A>T	CCDS31382.1	.	.	.	.	.	.	.	.	.	.	T	14.14	2.446688	0.43429	.	.	ENSG00000167359	ENST00000317283;ENST00000321307;ENST00000380211	T	0.74842	-0.88	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000015	D	0.91898	0.7435	H	0.98883	4.36	0.41703	D	0.989419	D	0.89917	1.0	D	0.79108	0.992	D	0.95082	0.8214	10	0.87932	D	0	.	15.2792	0.73767	0.0:0.0:0.0:1.0	.	44	Q9H343	O51I1_HUMAN	Y	29;41;44	ENSP00000369559:N44Y	ENSP00000348350:N29Y	N	-	1	0	OR51I1	5419191	1.000000	0.71417	1.000000	0.80357	0.084000	0.17831	7.423000	0.80229	2.289000	0.77006	0.524000	0.50904	AAC		PASS	0.512	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		90	14	90	14	---	---	---	---
OR52N4	390072	broad.mit.edu	37	11	5776473	5776473	+	Missense_Mutation	SNP	T	T	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr11:5776473T>A	ENST00000317254.3	+	1	551	c.503T>A	c.(502-504)cTg>cAg	p.L168Q	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L168Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		ACCAAGCTCCTGCCCTACTGC	0.463																																						uc001mbu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(502-504)CTG>CAG		olfactory receptor, family 52, subfamily N,							157.0	148.0	151.0					11																	5776473		2187	4297	6484	SO:0001583	missense	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776473T>A	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.503T>A	11.37:g.5776473T>A	ENSP00000323224:p.Leu168Gln					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.L168Q	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	1	551	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	168			Extracellular (Potential).		B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	c.503T>A	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	T	12.15	1.851150	0.32699	.	.	ENSG00000181074	ENST00000317254	T	0.00299	8.22	5.85	4.66	0.58398	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38605	N	0.001631	T	0.01222	0.0040	H	0.98295	4.195	0.27890	N	0.939366	D	0.89917	1.0	D	0.83275	0.996	T	0.10428	-1.0630	10	0.87932	D	0	.	10.954	0.47347	0.1401:0.0:0.0:0.8599	.	168	Q8NGI2	O52N4_HUMAN	Q	168	ENSP00000323224:L168Q	ENSP00000323224:L168Q	L	+	2	0	OR52N4	5733049	0.000000	0.05858	0.686000	0.30086	0.017000	0.09413	0.767000	0.26575	2.239000	0.73571	0.455000	0.32223	CTG		PASS	0.463	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		165	23	165	23	---	---	---	---
OR52N5	390075	broad.mit.edu	37	11	5799007	5799007	+	Silent	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr11:5799007C>A	ENST00000317093.2	-	1	890	c.858G>T	c.(856-858)gtG>gtT	p.V286V	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V286V(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AAAGATTAGCCACAATGATGT	0.418																																						uc010qzn.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(856-858)GTG>GTT		olfactory receptor, family 52, subfamily N,							88.0	84.0	85.0					11																	5799007		2124	4088	6212	SO:0001819	synonymous_variant	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799007C>A	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.858G>T	11.37:g.5799007C>A						TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.V286V	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	858	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	286			Helical; Name=7; (Potential).		B9EH12|Q6IFG2	Silent	SNP	ENST00000317093.2	37	c.858G>T	CCDS31397.1																																																																																				PASS	0.418	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		81	14	81	14	---	---	---	---
C11orf58	10944	broad.mit.edu	37	11	16760341	16760341	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr11:16760341G>C	ENST00000228136.4	+	1	394	c.16G>C	c.(16-18)Gag>Cag	p.E6Q	C11orf58_ENST00000527893.1_Intron|C11orf58_ENST00000525684.1_Missense_Mutation_p.E6Q|C11orf58_ENST00000422258.2_5'UTR			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58	6								p.E6Q(1)		NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						TGCTGCCAGAGAGTCTCACCC	0.577																																						uc001mmk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(16-18)GAG>CAG		small acidic protein isoform a							58.0	59.0	59.0					11																	16760341		2200	4294	6494	SO:0001583	missense	10944							g.chr11:16760341G>C	BC007103	CCDS7822.1	11p15.1	2012-05-30			ENSG00000110696	ENSG00000110696			16990	protein-coding gene	gene with protein product	"""small acidic protein"""					9263035	Standard	NM_014267		Approved	SMAP	uc001mmk.2	O00193	OTTHUMG00000165910	ENST00000228136.4:c.16G>C	11.37:g.16760341G>C	ENSP00000228136:p.Glu6Gln					C11orf58_uc010rct.1_5'UTR|SOX6_uc001mmh.1_5'Flank	p.E6Q	NM_014267	NP_055082	O00193	SMAP_HUMAN			1	194	+			6					B2RD28	Missense_Mutation	SNP	ENST00000228136.4	37	c.16G>C	CCDS7822.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900367	0.92035	.	.	ENSG00000110696	ENST00000228136;ENST00000524439;ENST00000528634;ENST00000525684	.	.	.	5.88	5.88	0.94601	.	0.303615	0.36893	N	0.002345	T	0.74275	0.3695	L	0.50333	1.59	0.80722	D	1	D	0.61080	0.989	D	0.70487	0.969	T	0.74934	-0.3495	9	0.66056	D	0.02	.	15.7386	0.77866	0.0:0.0:1.0:0.0	.	6	O00193	SMAP_HUMAN	Q	6	.	ENSP00000228136:E6Q	E	+	1	0	C11orf58	16716917	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.442000	0.59988	2.784000	0.95788	0.655000	0.94253	GAG		PASS	0.577	C11orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387023.2	NM_014267		9	47	9	47	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20065530	20065530	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr11:20065530G>A	ENST00000396087.3	+	14	3079	c.2980G>A	c.(2980-2982)Gat>Aat	p.D994N	NAV2_ENST00000396085.1_Missense_Mutation_p.D971N|NAV2_ENST00000540292.1_Missense_Mutation_p.D925N|NAV2_ENST00000360655.4_Missense_Mutation_p.D907N|NAV2_ENST00000311043.8_Missense_Mutation_p.D57N|NAV2_ENST00000527559.2_Missense_Mutation_p.D923N|NAV2_ENST00000533917.1_Missense_Mutation_p.D57N|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000349880.4_Missense_Mutation_p.D971N	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	994					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.D994N(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCACAGACTGATGCTGAGAA	0.507																																						uc010rdm.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)|pancreas(1)	6						c.(2980-2982)GAT>AAT		neuron navigator 2 isoform 2							80.0	84.0	83.0					11																	20065530		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20065530G>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2980G>A	11.37:g.20065530G>A	ENSP00000379396:p.Asp994Asn					NAV2_uc001mpp.2_Missense_Mutation_p.D907N|NAV2_uc001mpr.3_Missense_Mutation_p.D971N|NAV2_uc001mpt.2_Missense_Mutation_p.D57N|NAV2_uc009yhx.2_Missense_Mutation_p.D57N|NAV2_uc009yhy.1_5'UTR	p.D994N	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN			14	3341	+			994					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.2980G>A	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	37	6.149768	0.97324	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000530408;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000006	T	0.61211	0.2329	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.76494	0.998;0.998;0.999;0.983	D;D;D;P	0.81914	0.995;0.995;0.979;0.743	T	0.59931	-0.7361	9	.	.	.	.	19.2155	0.93776	0.0:0.0:1.0:0.0	.	57;57;971;907	Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	N	907;971;971;994;923;925;57;57;57;57;57	ENSP00000353871:D907N;ENSP00000379394:D971N;ENSP00000309577:D971N;ENSP00000379396:D994N;ENSP00000435395:D923N;ENSP00000443489:D925N;ENSP00000437316:D57N;ENSP00000437136:D57N;ENSP00000431276:D57N;ENSP00000312169:D57N	.	D	+	1	0	NAV2	20022106	1.000000	0.71417	0.240000	0.24138	0.744000	0.42396	9.504000	0.97986	2.535000	0.85469	0.655000	0.94253	GAT		PASS	0.507	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		89	21	89	21	---	---	---	---
OR4A15	81328	broad.mit.edu	37	11	55136358	55136358	+	Missense_Mutation	SNP	A	A	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr11:55136358A>T	ENST00000314706.3	+	1	999	c.999A>T	c.(997-999)aaA>aaT	p.K333N		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	333						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K333N(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GGAGTAAAAAAGTAAGCTTAG	0.368																																						uc010rif.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(997-999)AAA>AAT		olfactory receptor, family 4, subfamily A,							90.0	91.0	91.0					11																	55136358		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55136358A>T	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.999A>T	11.37:g.55136358A>T	ENSP00000325065:p.Lys333Asn						p.K333N	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	999	+			333			Cytoplasmic (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.999A>T	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	9.696	1.153185	0.21371	.	.	ENSG00000181958	ENST00000314706	T	0.39406	1.08	3.26	-3.12	0.05282	.	0.710225	0.12481	N	0.465193	T	0.24431	0.0592	L	0.41573	1.285	0.09310	N	1	B	0.12013	0.005	B	0.15484	0.013	T	0.17868	-1.0355	10	0.33141	T	0.24	.	1.511	0.02496	0.412:0.3198:0.1106:0.1576	.	333	Q8NGL6	O4A15_HUMAN	N	333	ENSP00000325065:K333N	ENSP00000325065:K333N	K	+	3	2	OR4A15	54892934	0.024000	0.19004	0.001000	0.08648	0.088000	0.18126	0.978000	0.29488	-0.307000	0.08804	0.403000	0.27427	AAA		PASS	0.368	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		155	29	155	29	---	---	---	---
OR5F1	338674	broad.mit.edu	37	11	55761942	55761942	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr11:55761942G>A	ENST00000278409.1	-	1	159	c.160C>T	c.(160-162)Cag>Tag	p.Q54*		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	54					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.Q54*(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GTGTGAAGCTGGGAATCGATC	0.418																																						uc010riv.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(160-162)CAG>TAG		olfactory receptor, family 5, subfamily F,							60.0	56.0	57.0					11																	55761942		2201	4296	6497	SO:0001587	stop_gained	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761942G>A	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.160C>T	11.37:g.55761942G>A	ENSP00000278409:p.Gln54*						p.Q54*	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	160	-	Esophageal squamous(21;0.00448)		54			Cytoplasmic (Potential).		Q495D1|Q6IFB9	Nonsense_Mutation	SNP	ENST00000278409.1	37	c.160C>T	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	G	1.222	-0.626509	0.03610	.	.	ENSG00000149133	ENST00000278409	.	.	.	3.03	-5.7	0.02421	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	1.1624	0.01808	0.1853:0.1266:0.2759:0.4122	.	.	.	.	X	54	.	ENSP00000278409:Q54X	Q	-	1	0	OR5F1	55518518	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-1.971000	0.01503	-0.949000	0.03663	-0.707000	0.03653	CAG		PASS	0.418	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		59	15	59	15	---	---	---	---
BEST1	7439	broad.mit.edu	37	11	61730176	61730176	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr11:61730176C>T	ENST00000378043.4	+	10	2193	c.1550C>T	c.(1549-1551)tCa>tTa	p.S517L	BEST1_ENST00000449131.2_Missense_Mutation_p.S457L|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000301774.9_Missense_Mutation_p.S145L|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000378042.3_Missense_Mutation_p.S430L	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	517					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.S517L(1)|p.S457L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						GAATTGCTCTCAGAGAGCGAT	0.478																																						uc001nss.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1549-1551)TCA>TTA		bestrophin 1 isoform 1							75.0	70.0	72.0					11																	61730176		2202	4299	6501	SO:0001583	missense	7439				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity	g.chr11:61730176C>T	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1550C>T	11.37:g.61730176C>T	ENSP00000367282:p.Ser517Leu					BEST1_uc010rlq.1_3'UTR|BEST1_uc010rlr.1_3'UTR|BEST1_uc010rls.1_Missense_Mutation_p.S145L|BEST1_uc001nsr.2_Missense_Mutation_p.S457L|BEST1_uc009ynt.2_RNA|BEST1_uc010rlt.1_Missense_Mutation_p.S457L|BEST1_uc001nst.2_Missense_Mutation_p.S430L|BEST1_uc010rlu.1_3'UTR|BEST1_uc010rlv.1_Missense_Mutation_p.S411L	p.S517L	NM_004183	NP_004174	O76090	BEST1_HUMAN			10	2130	+			517			Cytoplasmic (Potential).		A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Missense_Mutation	SNP	ENST00000378043.4	37	c.1550C>T	CCDS31580.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.113921	0.37339	.	.	ENSG00000167995	ENST00000378043;ENST00000378042;ENST00000301774;ENST00000449131	D;D;T;D	0.97089	-4.21;-3.97;-0.3;-4.24	5.07	3.15	0.36227	.	1.968600	0.02888	N	0.133751	D	0.92835	0.7721	N	0.08118	0	0.24853	N	0.992394	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	D	0.84399	0.0559	10	0.59425	D	0.04	-0.1215	10.1021	0.42511	0.0:0.8299:0.0:0.1701	.	430;517;457	O76090-4;O76090;O76090-3	.;BEST1_HUMAN;.	L	517;430;145;457	ENSP00000367282:S517L;ENSP00000367281:S430L;ENSP00000301774:S145L;ENSP00000399709:S457L	ENSP00000301774:S145L	S	+	2	0	BEST1	61486752	0.266000	0.24112	0.001000	0.08648	0.016000	0.09150	1.752000	0.38349	0.619000	0.30197	0.655000	0.94253	TCA		PASS	0.478	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		6	75	6	75	---	---	---	---
GPR137	56834	broad.mit.edu	37	11	64056748	64056748	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr11:64056748C>G	ENST00000313074.3	+	7	1270	c.1165C>G	c.(1165-1167)Ctt>Gtt	p.L389V	KCNK4_ENST00000422670.2_5'Flank|GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000377702.4_3'UTR|RP11-783K16.10_ENST00000539086.1_RNA|GPR137_ENST00000438980.2_3'UTR|KCNK4_ENST00000394525.2_5'Flank|KCNK4_ENST00000538767.1_5'Flank|GPR137_ENST00000411458.1_Missense_Mutation_p.L447V	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	389						integral component of membrane (GO:0016021)		p.L389V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TCTGCCGCTTCTTGCCCAGGA	0.652																																						uc001nzg.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1165-1167)CTT>GTT		G protein-coupled receptor 137							106.0	109.0	108.0					11																	64056748		2201	4297	6498	SO:0001583	missense	56834					integral to membrane		g.chr11:64056748C>G	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"""GPCR / Unclassified : 7TM orphan receptors"""	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.1165C>G	11.37:g.64056748C>G	ENSP00000321698:p.Leu389Val					GPR137_uc010rni.1_Missense_Mutation_p.L447V|GPR137_uc001nzf.2_3'UTR|GPR137_uc001nzi.2_3'UTR|GPR137_uc010rnj.1_3'UTR|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank|KCNK4_uc001nzl.1_5'Flank|KCNK4_uc001nzm.3_5'Flank|KCNK4_uc001nzn.1_5'Flank	p.L389V	NM_020155	NP_064540	Q96N19	G137A_HUMAN			8	1473	+			389			Cytoplasmic (Potential).		B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Missense_Mutation	SNP	ENST00000313074.3	37	c.1165C>G	CCDS8066.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539023	0.45176	.	.	ENSG00000173264	ENST00000411458;ENST00000313074	T;T	0.52526	0.66;0.78	5.6	4.63	0.57726	.	1.482530	0.03701	N	0.248544	T	0.52158	0.1717	N	0.08118	0	0.80722	D	1	D;D	0.71674	0.998;0.994	D;P	0.66716	0.946;0.879	T	0.50215	-0.8854	10	0.87932	D	0	-11.4965	11.6257	0.51145	0.0:0.8209:0.1791:0.0	.	447;389	B4DTG7;Q96N19	.;G137A_HUMAN	V	447;389	ENSP00000411827:L447V;ENSP00000321698:L389V	ENSP00000321698:L389V	L	+	1	0	GPR137	63813324	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	2.247000	0.43151	2.633000	0.89246	0.561000	0.74099	CTT		PASS	0.652	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155		27	173	27	173	---	---	---	---
CPT1A	1374	broad.mit.edu	37	11	68575083	68575083	+	Missense_Mutation	SNP	T	T	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr11:68575083T>G	ENST00000265641.5	-	4	459	c.305A>C	c.(304-306)aAg>aCg	p.K102T	CPT1A_ENST00000376618.2_Missense_Mutation_p.K102T|CPT1A_ENST00000540367.1_Missense_Mutation_p.K102T|CPT1A_ENST00000539743.1_Missense_Mutation_p.K102T	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	102					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.K102T(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GACCACGTTCTTCGTCTGGCT	0.632																																						uc001oog.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(304-306)AAG>ACG		carnitine palmitoyltransferase 1A liver isoform	L-Carnitine(DB00583)|Perhexiline(DB01074)						127.0	96.0	107.0					11																	68575083		2200	4294	6494	SO:0001583	missense	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68575083T>G	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.305A>C	11.37:g.68575083T>G	ENSP00000265641:p.Lys102Thr					CPT1A_uc001oof.3_Missense_Mutation_p.K102T|CPT1A_uc009ysj.2_Missense_Mutation_p.K102T	p.K102T	NM_001876	NP_001867	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		4	475	-	Esophageal squamous(3;3.28e-14)		102			Mitochondrial intermembrane (Potential).		Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	c.305A>C	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	T	12.72	2.022494	0.35701	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.95	3.65	0.41850	.	0.054285	0.85682	D	0.000000	T	0.62196	0.2408	L	0.27053	0.805	0.40145	D	0.976883	B;B;B	0.28512	0.0;0.078;0.214	B;B;B	0.28916	0.002;0.091;0.096	T	0.54503	-0.8284	10	0.14656	T	0.56	.	9.7828	0.40658	0.0:0.1381:0.0:0.8619	.	102;102;102	B2RAQ8;P50416;P50416-2	.;CPT1A_HUMAN;.	T	102	ENSP00000439084:K102T;ENSP00000365803:K102T;ENSP00000265641:K102T;ENSP00000446108:K102T	ENSP00000265641:K102T	K	-	2	0	CPT1A	68331659	1.000000	0.71417	0.271000	0.24616	0.160000	0.22226	4.932000	0.63476	1.073000	0.40885	0.402000	0.26972	AAG		PASS	0.632	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		33	9	33	9	---	---	---	---
HEPHL1	341208	broad.mit.edu	37	11	93803539	93803539	+	Splice_Site	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr11:93803539G>T	ENST00000315765.9	+	6	1071		c.e6-1			NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1						copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.?(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CTGTTCTGCAGCTGGTATGCT	0.408																																						uc001pep.2																			1	Unknown(1)		lung(1)	ovary(3)	3						c.e6-1		hephaestin-like 1 precursor							31.0	29.0	30.0					11																	93803539		1874	4106	5980	SO:0001630	splice_region_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93803539G>T	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1064-1G>T	11.37:g.93803539G>T						uc001pen.1_Intron	p.A355_splice	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			6	1221	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)						Q3C1W7	Splice_Site	SNP	ENST00000315765.9	37	c.1064_splice	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641282	0.87859	.	.	ENSG00000181333	ENST00000315765	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5822	0.95471	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HEPHL1	93443187	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.307000	0.89964	2.617000	0.88574	0.650000	0.86243	.		PASS	0.408	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947	Intron	10	1	10	1	---	---	---	---
CADM1	23705	broad.mit.edu	37	11	115102104	115102104	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr11:115102104G>A	ENST00000452722.3	-	4	551	c.531C>T	c.(529-531)atC>atT	p.I177I	CADM1_ENST00000331581.6_Silent_p.I177I|CADM1_ENST00000536727.1_Silent_p.I177I|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Silent_p.I177I|CADM1_ENST00000542447.2_Silent_p.I177I	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.I177I(1)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TGAACCACCTGATAGTCGTGG	0.463																																						uc001ppi.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(529-531)ATC>ATT		immunoglobulin superfamily, member 4D isoform 1							251.0	218.0	230.0					11																	115102104		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115102104G>A	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.531C>T	11.37:g.115102104G>A						CADM1_uc001ppf.3_Silent_p.I177I|CADM1_uc001ppk.3_Silent_p.I177I|CADM1_uc001ppj.3_Silent_p.I177I|CADM1_uc001ppl.2_Silent_p.I177I	p.I177I	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	4	660	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	177			Ig-like C2-type 1.|Extracellular (Potential).			Silent	SNP	ENST00000452722.3	37	c.531C>T	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.918|9.918	1.211414|1.211414	0.22289|0.22289	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000545380|ENST00000543249	.|.	.|.	.|.	6.08|6.08	4.23|4.23	0.50019|0.50019	.|.	.|.	.|.	.|.	.|.	.|T	.|0.58104	.|0.2099	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54002	.|-0.8358	.|4	.|.	.|.	.|.	.|.	7.8521|7.8521	0.29462|0.29462	0.1331:0.0:0.7359:0.131|0.1331:0.0:0.7359:0.131	.|.	.|.	.|.	.|.	X|L	176|161	.|.	.|.	Q|S	-|-	1|2	0|0	CADM1|CADM1	114607314|114607314	1.000000|1.000000	0.71417|0.71417	0.583000|0.583000	0.28640|0.28640	0.909000|0.909000	0.53808|0.53808	4.482000|4.482000	0.60257|0.60257	0.914000|0.914000	0.36822|0.36822	0.655000|0.655000	0.94253|0.94253	CAG|TCA		PASS	0.463	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		35	87	35	87	---	---	---	---
SIDT2	51092	broad.mit.edu	37	11	117062730	117062730	+	Splice_Site	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr11:117062730G>C	ENST00000324225.4	+	19	2403	c.1872G>C	c.(1870-1872)gtG>gtC	p.V624V	SIDT2_ENST00000431081.2_Splice_Site_p.V621V|SIDT2_ENST00000532062.1_5'Flank	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	624					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)	p.V624V(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TGCTGGGCGTGGTGAGGGCCT	0.592																																						uc001pqh.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1870-1872)GTG>GTC		SID1 transmembrane family, member 2 precursor							141.0	130.0	134.0					11																	117062730		2201	4296	6497	SO:0001630	splice_region_variant	51092					integral to membrane|lysosomal membrane		g.chr11:117062730G>C	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.1872+1G>C	11.37:g.117062730G>C						SIDT2_uc010rxe.1_Silent_p.V624V|SIDT2_uc001pqg.2_Silent_p.V645V|SIDT2_uc001pqi.1_Silent_p.V621V|SIDT2_uc001pqj.1_5'Flank	p.V624V	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	19	1913	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	624			Helical; (Potential).		Q8NBY7|Q9Y357	Silent	SNP	ENST00000324225.4	37	c.1872G>C	CCDS31682.1																																																																																				PASS	0.592	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996	Silent	82	29	82	29	---	---	---	---
OR8B4	283162	broad.mit.edu	37	11	124294657	124294657	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr11:124294657G>A	ENST00000356130.3	-	1	132	c.111C>T	c.(109-111)ttC>ttT	p.F37F		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F37F(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CCACCACAGTGAACACATAGA	0.448																																						uc010sak.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(109-111)TTC>TTT		olfactory receptor, family 8, subfamily B,							69.0	66.0	67.0					11																	124294657		2201	4299	6500	SO:0001819	synonymous_variant	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294657G>A	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.111C>T	11.37:g.124294657G>A							p.F37F	NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	111	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	37			Helical; Name=1; (Potential).		B2RNF8|Q6IFQ7	Silent	SNP	ENST00000356130.3	37	c.111C>T	CCDS31710.1																																																																																				PASS	0.448	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		9	72	9	72	---	---	---	---
OR8B12	219858	broad.mit.edu	37	11	124413109	124413109	+	Missense_Mutation	SNP	A	A	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr11:124413109A>G	ENST00000306842.2	-	1	466	c.442T>C	c.(442-444)Tat>Cat	p.Y148H		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y148H(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CCCATCCCATAGGCACCCAAC	0.517																																						uc010sam.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(442-444)TAT>CAT		olfactory receptor, family 8, subfamily B,							107.0	91.0	96.0					11																	124413109		2201	4299	6500	SO:0001583	missense	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124413109A>G		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.442T>C	11.37:g.124413109A>G	ENSP00000307159:p.Tyr148His						p.Y148H	NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	442	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	148			Helical; Name=4; (Potential).		B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	c.442T>C	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.768448	0.69878	.	.	ENSG00000170953	ENST00000306842	T	0.38401	1.14	4.55	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000109	T	0.62563	0.2438	M	0.84433	2.695	0.37822	D	0.928416	D	0.57571	0.98	D	0.70016	0.967	T	0.73122	-0.4082	10	0.87932	D	0	.	13.561	0.61788	1.0:0.0:0.0:0.0	.	148	Q8NGG6	OR8BC_HUMAN	H	148	ENSP00000307159:Y148H	ENSP00000307159:Y148H	Y	-	1	0	OR8B12	123918319	0.839000	0.29477	0.050000	0.19076	0.865000	0.49528	6.828000	0.75308	1.988000	0.58038	0.528000	0.53228	TAT		PASS	0.517	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			47	15	47	15	---	---	---	---
B4GALNT3	283358	broad.mit.edu	37	12	667770	667770	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr12:667770G>T	ENST00000266383.5	+	18	2717	c.2704G>T	c.(2704-2706)Gcc>Tcc	p.A902S		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	902					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.A902S(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGGAAAGATGGCCTTTGCCCC	0.597																																						uc001qii.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2704-2706)GCC>TCC		beta							157.0	123.0	135.0					12																	667770		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:667770G>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2704G>T	12.37:g.667770G>T	ENSP00000266383:p.Ala902Ser					B4GALNT3_uc001qik.1_Missense_Mutation_p.A451S	p.A902S	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		18	2704	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		902			Lumenal (Potential).		Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.2704G>T	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	31	5.060796	0.93846	.	.	ENSG00000139044	ENST00000266383	T	0.16324	2.35	4.84	4.84	0.62591	.	0.113201	0.64402	D	0.000014	T	0.47619	0.1455	M	0.83223	2.63	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.55438	-0.8141	10	0.87932	D	0	-22.244	18.3183	0.90229	0.0:0.0:1.0:0.0	.	902	Q6L9W6	B4GN3_HUMAN	S	902	ENSP00000266383:A902S	ENSP00000266383:A902S	A	+	1	0	B4GALNT3	538031	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.842000	0.86851	2.381000	0.81170	0.455000	0.32223	GCC		PASS	0.597	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		4	119	4	119	---	---	---	---
DUSP16	80824	broad.mit.edu	37	12	12653560	12653560	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr12:12653560G>C	ENST00000228862.2	-	4	1055	c.424C>G	c.(424-426)Cta>Gta	p.L142V	DUSP16_ENST00000545864.1_5'UTR|DUSP16_ENST00000298573.4_Intron	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	142					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L142V(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GTAGGGACTAGAGTGGATTTT	0.443																																					Ovarian(158;443 1896 15437 36069 46477)	uc001rao.1																			1	Substitution - Missense(1)		lung(1)		0						c.(424-426)CTA>GTA		dual specificity phosphatase 16							99.0	90.0	93.0					12																	12653560		2203	4300	6503	SO:0001583	missense	80824				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:12653560G>C	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.424C>G	12.37:g.12653560G>C	ENSP00000228862:p.Leu142Val					DUSP16_uc001ran.1_Intron	p.L142V	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0203)	4	1056	-		Prostate(47;0.0687)	142					Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	37	c.424C>G	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	G	9.485	1.099172	0.20552	.	.	ENSG00000111266	ENST00000228862	T	0.60920	0.15	5.24	1.05	0.20165	Rhodanese-like (1);	0.406246	0.22239	N	0.062719	T	0.44456	0.1294	L	0.47716	1.5	0.32378	N	0.554928	B	0.12013	0.005	B	0.13407	0.009	T	0.42749	-0.9433	10	0.36615	T	0.2	.	6.7464	0.23464	0.0674:0.349:0.4641:0.1195	.	142	Q9BY84	DUS16_HUMAN	V	142	ENSP00000228862:L142V	ENSP00000228862:L142V	L	-	1	2	DUSP16	12544827	0.930000	0.31532	0.935000	0.37517	0.938000	0.57974	1.379000	0.34340	0.245000	0.21373	-0.323000	0.08544	CTA		PASS	0.443	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640		13	62	13	62	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14019133	14019133	+	Missense_Mutation	SNP	T	T	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr12:14019133T>C	ENST00000609686.1	-	2	219	c.10A>G	c.(10-12)Aga>Gga	p.R4G		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	4					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R4G(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CACTCCGCTCTGGGCTTCATC	0.517																																						uc001rbt.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(10-12)AGA>GGA		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						35.0	40.0	38.0					12																	14019133		2203	4299	6502	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:14019133T>C		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.10A>G	12.37:g.14019133T>C	ENSP00000477455:p.Arg4Gly						p.R4G	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			2	189	-			4					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.10A>G	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	T	13.63	2.293785	0.40594	.	.	ENSG00000150086	ENST00000279593	T	0.11930	2.73	5.7	1.91	0.25777	.	0.604283	0.17782	N	0.162185	T	0.06781	0.0173	N	0.08118	0	0.23997	N	0.996222	B	0.22276	0.067	B	0.17098	0.017	T	0.31475	-0.9942	10	0.54805	T	0.06	.	8.3682	0.32399	0.1227:0.0:0.2567:0.6206	.	4	Q13224	NMDE2_HUMAN	G	4	ENSP00000279593:R4G	ENSP00000279593:R4G	R	-	1	2	GRIN2B	13910400	0.994000	0.37717	0.986000	0.45419	0.994000	0.84299	1.063000	0.30567	0.069000	0.16605	0.460000	0.39030	AGA		PASS	0.517	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			47	20	47	20	---	---	---	---
PTPRO	5800	broad.mit.edu	37	12	15747918	15747918	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr12:15747918G>A	ENST00000281171.4	+	26	3924	c.3594G>A	c.(3592-3594)aaG>aaA	p.K1198K	PTPRO_ENST00000445537.2_Silent_p.K387K|PTPRO_ENST00000442921.2_Silent_p.K387K|PTPRO_ENST00000544244.1_Silent_p.K359K|PTPRO_ENST00000348962.2_Silent_p.K1170K|PTPRO_ENST00000542557.1_Silent_p.K359K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1198					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.K1198K(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TGTGGATGAAGAAGAAGCAGC	0.423																																						uc001rcv.1																			1	Substitution - coding silent(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(3592-3594)AAG>AAA		receptor-type protein tyrosine phosphatase O							148.0	127.0	134.0					12																	15747918		2203	4300	6503	SO:0001819	synonymous_variant	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15747918G>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3594G>A	12.37:g.15747918G>A						PTPRO_uc001rcw.1_Silent_p.K1170K|PTPRO_uc001rcx.1_Silent_p.K387K|PTPRO_uc001rcy.1_Silent_p.K387K|PTPRO_uc001rcz.1_Silent_p.K359K|PTPRO_uc001rda.1_Silent_p.K359K	p.K1198K	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			26	3768	+		Hepatocellular(102;0.244)	1198			Cytoplasmic (Potential).		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	c.3594G>A	CCDS8675.1																																																																																				PASS	0.423	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			23	63	23	63	---	---	---	---
PDE3A	5139	broad.mit.edu	37	12	20783030	20783030	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr12:20783030C>G	ENST00000359062.3	+	6	1769	c.1729C>G	c.(1729-1731)Caa>Gaa	p.Q577E	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	577					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.Q577E(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CCTATCCCCTCAAATCCTGAC	0.423																																						uc001reh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(1729-1731)CAA>GAA		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						131.0	131.0	131.0					12																	20783030		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20783030C>G		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1729C>G	12.37:g.20783030C>G	ENSP00000351957:p.Gln577Glu						p.Q577E	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			6	1751	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	577					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1729C>G	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866937	0.32977	.	.	ENSG00000172572	ENST00000359062	T	0.47869	0.83	5.38	5.38	0.77491	.	8.453240	0.00166	N	0.000000	T	0.54565	0.1866	L	0.54323	1.7	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.53865	-0.8378	10	0.38643	T	0.18	.	18.918	0.92513	0.0:1.0:0.0:0.0	.	577	Q14432	PDE3A_HUMAN	E	577	ENSP00000351957:Q577E	ENSP00000351957:Q577E	Q	+	1	0	PDE3A	20674297	0.944000	0.32072	0.069000	0.20011	0.989000	0.77384	2.889000	0.48601	2.799000	0.96334	0.603000	0.83216	CAA		PASS	0.423	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			86	235	86	235	---	---	---	---
SLCO1B7	338821	broad.mit.edu	37	12	21205082	21205082	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr12:21205082G>T	ENST00000421593.2	+	9	1243	c.1243G>T	c.(1243-1245)Gag>Tag	p.E415*	SLCO1B7_ENST00000554957.1_Nonsense_Mutation_p.E462*|LST3_ENST00000381541.3_Nonsense_Mutation_p.E462*|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|RP11-125O5.2_ENST00000590779.1_5'Flank	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	415	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.E415*(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTGCAACTCAGAGTGCAATTG	0.368																																						uc010sin.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1243-1245)GAG>TAG		liver-specific organic anion transporter 3TM12							136.0	138.0	138.0					12																	21205082		2203	4300	6503	SO:0001587	stop_gained	338821					membrane	transporter activity	g.chr12:21205082G>T	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1243G>T	12.37:g.21205082G>T	ENSP00000394168:p.Glu415*					SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Nonsense_Mutation_p.E462*	p.E415*	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN			9	1243	+			415					Q71QF0	Nonsense_Mutation	SNP	ENST00000421593.2	37	c.1243G>T	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	37	6.247227	0.97408	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	.	.	.	3.09	2.18	0.27775	.	0.299003	0.40818	N	0.001017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	7.7333	0.28799	0.1278:0.0:0.8722:0.0	.	.	.	.	X	462;462;415	.	ENSP00000370952:E462X	E	+	1	0	SLCO1B7;RP11-545J16.1	21096349	0.958000	0.32768	1.000000	0.80357	0.973000	0.67179	2.126000	0.42026	0.616000	0.30141	0.400000	0.26472	GAG		PASS	0.368	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		41	152	41	152	---	---	---	---
IPO8	10526	broad.mit.edu	37	12	30806004	30806004	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr12:30806004G>A	ENST00000256079.4	-	18	2309	c.1971C>T	c.(1969-1971)tcC>tcT	p.S657S	IPO8_ENST00000544829.1_Silent_p.S452S	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	657					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.S657S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TGTATGCCAGGGAAAGAATTT	0.363																																						uc001rjd.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(1969-1971)TCC>TCT		importin 8							50.0	57.0	55.0					12																	30806004		2202	4298	6500	SO:0001819	synonymous_variant	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30806004G>A	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.1971C>T	12.37:g.30806004G>A						IPO8_uc001rje.1_Silent_p.S146S|IPO8_uc010sjt.1_Silent_p.S452S	p.S657S	NM_006390	NP_006381	O15397	IPO8_HUMAN			18	2141	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		657					B7Z7M3	Silent	SNP	ENST00000256079.4	37	c.1971C>T	CCDS8719.1																																																																																				PASS	0.363	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		29	73	29	73	---	---	---	---
OR8S1	341568	broad.mit.edu	37	12	48919625	48919625	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr12:48919625C>G	ENST00000310194.1	+	1	211	c.211C>G	c.(211-213)Ctc>Gtc	p.L71V	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L71V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TTTTGTTGATCTCTGCTTCTC	0.473																																						uc010slu.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(211-213)CTC>GTC		olfactory receptor, family 8, subfamily S,							178.0	167.0	170.0					12																	48919625		2203	4300	6503	SO:0001583	missense	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48919625C>G		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.211C>G	12.37:g.48919625C>G	ENSP00000310632:p.Leu71Val						p.L71V	NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN			1	211	+			71			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000310194.1	37	c.211C>G	CCDS31789.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.436868	0.25900	.	.	ENSG00000197376	ENST00000310194	T	0.02280	4.36	5.03	0.401	0.16338	GPCR, rhodopsin-like superfamily (1);	0.690956	0.11956	N	0.513229	T	0.02888	0.0086	L	0.52573	1.65	0.21386	N	0.9997	B	0.26195	0.144	B	0.27608	0.081	T	0.39901	-0.9591	10	0.40728	T	0.16	-21.0022	8.1229	0.30982	0.4976:0.4226:0.0:0.0798	.	71	Q8NH09	OR8S1_HUMAN	V	71	ENSP00000310632:L71V	ENSP00000310632:L71V	L	+	1	0	OR8S1	47205892	0.000000	0.05858	0.078000	0.20375	0.959000	0.62525	-5.453000	0.00121	0.167000	0.19631	0.655000	0.94253	CTC		PASS	0.473	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			19	141	19	141	---	---	---	---
PRPF40B	25766	broad.mit.edu	37	12	50028964	50028964	+	Silent	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr12:50028964C>A	ENST00000380281.1	+	12	1082	c.1018C>A	c.(1018-1020)Cgg>Agg	p.R340R	FMNL3_ENST00000550668.1_5'Flank|PRPF40B_ENST00000548825.2_Silent_p.R362R|PRPF40B_ENST00000261897.1_Silent_p.R334R			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	340	FF 2.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.R340R(1)|p.R340W(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGAGGAGGCCCGGCTAAGGGC	0.597																																						uc001rur.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		large_intestine(1)|lung(1)	skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						c.(1018-1020)CGG>AGG		Huntingtin interacting protein C isoform 1							50.0	49.0	49.0					12																	50028964		2203	4300	6503	SO:0001819	synonymous_variant	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50028964C>A	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1018C>A	12.37:g.50028964C>A						PRPF40B_uc001rup.1_Silent_p.R362R|PRPF40B_uc001ruq.1_Silent_p.R334R|PRPF40B_uc001rus.1_Silent_p.R283R	p.R340R	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN			12	1082	+			340					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Silent	SNP	ENST00000380281.1	37	c.1018C>A																																																																																					PASS	0.597	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		33	79	33	79	---	---	---	---
ACVRL1	94	broad.mit.edu	37	12	52307358	52307358	+	Missense_Mutation	SNP	C	C	T	rs143872998		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr12:52307358C>T	ENST00000388922.4	+	4	612	c.329C>T	c.(328-330)tCg>tTg	p.S110L	ACVRL1_ENST00000550683.1_Missense_Mutation_p.S124L|ACVRL1_ENST00000419526.2_Intron	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	110					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.S110L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CAACCTCCTTCGGAGCAGCCG	0.672																																						uc001rzj.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(328-330)TCG>TTG		activin A receptor type II-like 1 precursor	Adenosine triphosphate(DB00171)	C	LEU/SER,LEU/SER	4,4396		0,4,2196	16.0	16.0	16.0		329,329	4.7	0.0	12	dbSNP_134	16	0,8590		0,0,4295	yes	missense,missense	ACVRL1	NM_000020.2,NM_001077401.1	145,145	0,4,6491	TT,TC,CC		0.0,0.0909,0.0308	benign,benign	110/504,110/504	52307358	4,12986	2200	4295	6495	SO:0001583	missense	94	Hereditary_Hemorrhagic_Telangiectasia			blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52307358C>T	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.329C>T	12.37:g.52307358C>T	ENSP00000373574:p.Ser110Leu					ACVRL1_uc001rzk.2_Missense_Mutation_p.S110L|ACVRL1_uc010snm.1_Intron	p.S110L	NM_000020	NP_000011	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	4	612	+			110			Extracellular (Potential).		A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	37	c.329C>T	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795063	0.31777	9.09E-4	0.0	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683	D;D	0.86432	-2.1;-2.12	5.54	4.65	0.58169	.	0.856566	0.09516	N	0.791580	T	0.78836	0.4346	N	0.19112	0.55	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.64470	-0.6400	10	0.30078	T	0.28	.	10.4064	0.44260	0.0:0.9099:0.0:0.0901	.	110	P37023	ACVL1_HUMAN	L	110;110;124	ENSP00000373574:S110L;ENSP00000447884:S124L	ENSP00000267008:S110L	S	+	2	0	ACVRL1	50593625	0.004000	0.15560	0.012000	0.15200	0.256000	0.26092	1.954000	0.40362	1.334000	0.45468	0.591000	0.81541	TCG		PASS	0.672	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			3	35	3	35	---	---	---	---
TMEM5	10329	broad.mit.edu	37	12	64202821	64202821	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr12:64202821G>A	ENST00000261234.6	+	6	1439	c.1281G>A	c.(1279-1281)atG>atA	p.M427I	TMEM5-AS1_ENST00000546214.1_RNA|TMEM5_ENST00000537373.1_Missense_Mutation_p.M167I	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	427						integral component of plasma membrane (GO:0005887)		p.M427I(1)		breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		AGCTTAAAATGAAATTTACTA	0.239																																						uc001srq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1279-1281)ATG>ATA		transmembrane protein 5							15.0	17.0	16.0					12																	64202821		2125	4241	6366	SO:0001583	missense	10329					integral to plasma membrane		g.chr12:64202821G>A	AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.1281G>A	12.37:g.64202821G>A	ENSP00000261234:p.Met427Ile					TMEM5_uc001srr.1_Missense_Mutation_p.M324I|TMEM5_uc001srs.1_Missense_Mutation_p.M167I	p.M427I	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)	6	1385	+		Myeloproliferative disorder(1001;0.0255)	427			Extracellular (Potential).		A8K017|Q6PKD6	Missense_Mutation	SNP	ENST00000261234.6	37	c.1281G>A	CCDS8966.1	.	.	.	.	.	.	.	.	.	.	G	8.230	0.804552	0.16467	.	.	ENSG00000118600	ENST00000261234;ENST00000537373	.	.	.	4.96	4.07	0.47477	.	0.584513	0.19180	N	0.120703	T	0.30198	0.0757	L	0.36672	1.1	0.21762	N	0.999554	B;B	0.20988	0.02;0.05	B;B	0.18561	0.013;0.022	T	0.13953	-1.0490	8	.	.	.	-22.4447	8.764	0.34692	0.2881:0.0:0.7119:0.0	.	167;427	G3V1K2;Q9Y2B1	.;TMEM5_HUMAN	I	427;167	.	.	M	+	3	0	TMEM5	62489088	0.429000	0.25530	0.977000	0.42913	0.923000	0.55619	-0.065000	0.11617	1.414000	0.47017	0.561000	0.74099	ATG		PASS	0.239	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254		4	53	4	53	---	---	---	---
LEMD3	23592	broad.mit.edu	37	12	65633915	65633915	+	Splice_Site	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr12:65633915G>C	ENST00000308330.2	+	8	2049		c.e8-1			NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3						negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.?(1)		breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TTTATTTTTAGATGTTTTACG	0.313																																						uc001ssl.1																			1	Unknown(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.e8-1		LEM domain containing 3							70.0	71.0	71.0					12																	65633915		2203	4300	6503	SO:0001630	splice_region_variant	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65633915G>C	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.2024-1G>C	12.37:g.65633915G>C						LEMD3_uc009zqo.1_Splice_Site_p.D674_splice	p.D675_splice	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	8	2030	+								Q9NT47|Q9NYA5	Splice_Site	SNP	ENST00000308330.2	37	c.2024_splice	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.653234	0.67472	.	.	ENSG00000174106	ENST00000308330	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2527	0.93932	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LEMD3	63920182	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	8.993000	0.93524	2.706000	0.92434	0.591000	0.81541	.		PASS	0.313	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2		Intron	3	120	3	120	---	---	---	---
HELB	92797	broad.mit.edu	37	12	66698709	66698709	+	Missense_Mutation	SNP	T	T	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr12:66698709T>C	ENST00000247815.4	+	2	445	c.386T>C	c.(385-387)cTc>cCc	p.L129P		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	129					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)	p.L129P(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		ATCTGTGCTCTCTTTCTTAAA	0.353																																						uc001sti.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(385-387)CTC>CCC		helicase (DNA) B							129.0	121.0	124.0					12																	66698709		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66698709T>C	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.386T>C	12.37:g.66698709T>C	ENSP00000247815:p.Leu129Pro					HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	p.L129P	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	2	414	+			129					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.386T>C	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.168502	0.57584	.	.	ENSG00000127311	ENST00000247815	T	0.28255	1.62	5.24	5.24	0.73138	.	0.158047	0.42294	D	0.000729	T	0.53578	0.1805	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.53450	-0.8437	9	.	.	.	-12.9101	15.1507	0.72696	0.0:0.0:0.0:1.0	.	129	Q8NG08	HELB_HUMAN	P	129	ENSP00000247815:L129P	.	L	+	2	0	HELB	64984976	0.996000	0.38824	0.962000	0.40283	0.580000	0.36256	5.252000	0.65445	1.975000	0.57531	0.374000	0.22700	CTC		PASS	0.353	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			37	118	37	118	---	---	---	---
HELB	92797	broad.mit.edu	37	12	66703903	66703903	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr12:66703903G>T	ENST00000247815.4	+	4	1254	c.1195G>T	c.(1195-1197)Gat>Tat	p.D399Y		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	399					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)	p.D399Y(1)|p.D399N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GAATTCAAGCGATGATGCATT	0.413																																						uc001sti.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(1195-1197)GAT>TAT		helicase (DNA) B							171.0	162.0	165.0					12																	66703903		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66703903G>T	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.1195G>T	12.37:g.66703903G>T	ENSP00000247815:p.Asp399Tyr					HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	p.D399Y	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	4	1223	+			399					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.1195G>T	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659451	0.47467	.	.	ENSG00000127311	ENST00000247815	T	0.14640	2.49	6.17	3.37	0.38596	.	1.943540	0.01680	N	0.026114	T	0.20088	0.0483	L	0.44542	1.39	0.09310	N	1	P	0.50710	0.938	P	0.46299	0.511	T	0.24225	-1.0166	9	.	.	.	0.3655	9.6548	0.39919	0.2636:0.0:0.7364:0.0	.	399	Q8NG08	HELB_HUMAN	Y	399	ENSP00000247815:D399Y	.	D	+	1	0	HELB	64990170	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.777000	0.26718	0.475000	0.27415	-0.136000	0.14681	GAT		PASS	0.413	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			173	151	173	151	---	---	---	---
CAND1	55832	broad.mit.edu	37	12	67700370	67700370	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr12:67700370G>C	ENST00000545606.1	+	10	3359	c.2922G>C	c.(2920-2922)ttG>ttC	p.L974F		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	974					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.L974F(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		AGGGGTACTTGATATCAGGTA	0.363																																						uc001stn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(2920-2922)TTG>TTC		TIP120 protein							71.0	73.0	72.0					12																	67700370		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67700370G>C		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.2922G>C	12.37:g.67700370G>C	ENSP00000442318:p.Leu974Phe					CAND1_uc001sto.2_Missense_Mutation_p.L484F	p.L974F	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	10	3359	+			974			HEAT 23.		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.2922G>C	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991743	0.35131	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.38401	1.14;1.14	5.76	2.44	0.29823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59636	0.2208	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	T	0.62029	-0.6940	9	.	.	.	-6.7556	9.8731	0.41187	0.3207:0.0:0.6793:0.0	.	806;974	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	F	974;974;514	ENSP00000442318:L974F;ENSP00000444089:L514F	.	L	+	3	2	CAND1	65986637	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	2.165000	0.42396	0.742000	0.32697	0.591000	0.81541	TTG		PASS	0.363	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		9	155	9	155	---	---	---	---
CAND1	55832	broad.mit.edu	37	12	67703954	67703954	+	Missense_Mutation	SNP	A	A	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr12:67703954A>T	ENST00000545606.1	+	13	3655	c.3218A>T	c.(3217-3219)cAt>cTt	p.H1073L		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1073					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.H1073L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CCATTTAAACATACGGTTGAT	0.343																																						uc001stn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(3217-3219)CAT>CTT		TIP120 protein							193.0	183.0	187.0					12																	67703954		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67703954A>T		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.3218A>T	12.37:g.67703954A>T	ENSP00000442318:p.His1073Leu					CAND1_uc001sto.2_Missense_Mutation_p.H583L	p.H1073L	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	13	3655	+			1073			HEAT 25.		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.3218A>T	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.324660	0.81580	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.68025	-0.3;-0.3	5.43	5.43	0.79202	TATA-binding protein interacting (TIP20) (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87128	0.6100	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.988	D	0.91045	0.4874	9	.	.	.	-14.7924	15.7674	0.78138	1.0:0.0:0.0:0.0	.	905;1073	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	L	1073;1073;613	ENSP00000442318:H1073L;ENSP00000444089:H613L	.	H	+	2	0	CAND1	65990221	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.255000	0.95524	2.179000	0.69175	0.533000	0.62120	CAT		PASS	0.343	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		157	118	157	118	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78401170	78401170	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr12:78401170C>G	ENST00000397909.2	+	8	2025	c.1852C>G	c.(1852-1854)Caa>Gaa	p.Q618E	NAV3_ENST00000266692.7_Missense_Mutation_p.Q618E|NAV3_ENST00000228327.6_Missense_Mutation_p.Q618E|NAV3_ENST00000536525.2_Missense_Mutation_p.Q618E			Q8IVL0	NAV3_HUMAN	neuron navigator 3	618	Poly-Gln.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.Q618E(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						CCAACTCCCTCAACAGCAGCA	0.502										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.(1852-1854)CAA>GAA		neuron navigator 3							134.0	132.0	133.0					12																	78401170		2102	4219	6321	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78401170C>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.1852C>G	12.37:g.78401170C>G	ENSP00000381007:p.Gln618Glu	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.Q618E	p.Q618E	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	2025	+			618			Poly-Gln.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1852C>G		.	.	.	.	.	.	.	.	.	.	C	18.38	3.612066	0.66672	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49	4.11	4.11	0.48088	.	0.000000	0.38164	U	0.001781	T	0.31451	0.0797	L	0.60455	1.87	0.80722	D	1	D;P	0.54964	0.969;0.859	D;B	0.64877	0.93;0.373	T	0.02758	-1.1114	10	0.51188	T	0.08	-11.9845	15.4051	0.74871	0.0:1.0:0.0:0.0	.	618;618	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	E	618	ENSP00000446628:Q618E;ENSP00000446132:Q618E;ENSP00000381007:Q618E;ENSP00000228327:Q618E;ENSP00000266692:Q618E	ENSP00000228327:Q618E	Q	+	1	0	NAV3	76925301	1.000000	0.71417	0.970000	0.41538	0.799000	0.45148	7.054000	0.76649	2.243000	0.73865	0.555000	0.69702	CAA		PASS	0.502	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		37	158	37	158	---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	81839428	81839428	+	Silent	SNP	C	C	G	rs377309697		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr12:81839428C>G	ENST00000549396.1	-	6	637	c.477G>C	c.(475-477)cgG>cgC	p.R159R	RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000333447.7_Silent_p.R141R|PPFIA2_ENST00000548586.1_Silent_p.R159R|PPFIA2_ENST00000550584.2_Silent_p.R159R|PPFIA2_ENST00000443686.3_Silent_p.R85R|PPFIA2_ENST00000550359.2_Silent_p.R6R|PPFIA2_ENST00000552948.1_Silent_p.R159R|PPFIA2_ENST00000407050.4_Silent_p.R85R|PPFIA2_ENST00000549325.1_Silent_p.R141R	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	159	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.R159R(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ACTGGGCTTGCCGTTTTACCA	0.428																																						uc001szo.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(2)|pancreas(1)	6						c.(475-477)CGG>CGC		PTPRF interacting protein alpha 2							117.0	111.0	113.0					12																	81839428		1915	4126	6041	SO:0001819	synonymous_variant	8499							g.chr12:81839428C>G	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.477G>C	12.37:g.81839428C>G						PPFIA2_uc010sue.1_Silent_p.R59R|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	p.R159R	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			6	638	-			85					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	c.477G>C	CCDS55857.1																																																																																				PASS	0.428	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			29	61	29	61	---	---	---	---
SLC25A3	5250	broad.mit.edu	37	12	98992432	98992432	+	Missense_Mutation	SNP	A	A	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr12:98992432A>T	ENST00000228318.3	+	5	715	c.595A>T	c.(595-597)Act>Tct	p.T199S	SLC25A3_ENST00000552981.1_Missense_Mutation_p.T198S|SNORA53_ENST00000391141.1_RNA|SLC25A3_ENST00000188376.5_Missense_Mutation_p.T198S|SLC25A3_ENST00000549338.1_Missense_Mutation_p.T198S|SLC25A3_ENST00000551917.1_Missense_Mutation_p.T199S|SLC25A3_ENST00000548847.1_Missense_Mutation_p.T198S|SLC25A3_ENST00000401722.3_Missense_Mutation_p.T198S	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	199					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)	p.T199S(2)|p.T198S(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		TTATGCCAACACTTTGAGGGA	0.413																																						uc001tfo.2																			3	Substitution - Missense(3)		lung(3)		0						c.(595-597)ACT>TCT		solute carrier family 25 member 3 isoform a							67.0	64.0	65.0					12																	98992432		2203	4300	6503	SO:0001583	missense	5250				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	g.chr12:98992432A>T		CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.595A>T	12.37:g.98992432A>T	ENSP00000228318:p.Thr199Ser					SLC25A3_uc001tfm.2_Missense_Mutation_p.T198S|SLC25A3_uc001tfn.2_Missense_Mutation_p.T198S|SLC25A3_uc001tfp.2_Missense_Mutation_p.T198S|SLC25A3_uc001tfq.2_Missense_Mutation_p.T68S|SLC25A3_uc001tfr.2_Missense_Mutation_p.T199S|SLC25A3_uc001tfs.2_Missense_Mutation_p.T155S|SLC25A3_uc009ztn.2_Missense_Mutation_p.T198S|SLC25A3_uc001tft.2_Missense_Mutation_p.T198S|SNORA53_uc001tfu.1_5'Flank	p.T199S	NM_005888	NP_005879	Q00325	MPCP_HUMAN		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)	5	715	+		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)	199			Solcar 2.|Mitochondrial matrix (Potential).		B3KS34|Q7Z7N7|Q96A03	Missense_Mutation	SNP	ENST00000228318.3	37	c.595A>T	CCDS9066.1	.	.	.	.	.	.	.	.	.	.	A	14.88	2.666557	0.47677	.	.	ENSG00000075415	ENST00000401722;ENST00000188376;ENST00000228318;ENST00000551917;ENST00000552981;ENST00000549338;ENST00000548847	T;T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	6.17	5.03	0.67393	Mitochondrial carrier domain (2);	0.127920	0.64402	D	0.000001	T	0.61540	0.2355	N	0.12527	0.23	0.80722	D	1	B;B;B;B	0.24882	0.014;0.008;0.113;0.006	B;B;B;B	0.37601	0.036;0.06;0.254;0.036	T	0.53739	-0.8396	10	0.11485	T	0.65	-17.4568	13.8982	0.63785	0.8729:0.1271:0.0:0.0	.	198;198;199;198	F8VVM2;B2RE88;Q00325;Q00325-2	.;.;MPCP_HUMAN;.	S	198;198;199;199;198;198;198	ENSP00000383898:T198S;ENSP00000188376:T198S;ENSP00000228318:T199S;ENSP00000447310:T199S;ENSP00000448708:T198S;ENSP00000447740:T198S;ENSP00000449166:T198S	ENSP00000188376:T198S	T	+	1	0	SLC25A3	97516563	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	7.040000	0.76551	1.153000	0.42468	-0.264000	0.10439	ACT		PASS	0.413	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		28	79	28	79	---	---	---	---
SLC25A3	5250	broad.mit.edu	37	12	98994961	98994961	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr12:98994961G>C	ENST00000228318.3	+	7	950	c.830G>C	c.(829-831)tGt>tCt	p.C277S	SLC25A3_ENST00000552981.1_Missense_Mutation_p.C276S|SNORA53_ENST00000391141.1_RNA|SLC25A3_ENST00000188376.5_Missense_Mutation_p.C276S|SLC25A3_ENST00000549338.1_Missense_Mutation_p.C276S|SLC25A3_ENST00000551917.1_Missense_Mutation_p.C277S|SLC25A3_ENST00000548847.1_Intron|SLC25A3_ENST00000401722.3_Missense_Mutation_p.C276S	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	277					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)	p.C277S(2)|p.C276S(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GGAGTCTTTTGTGCAATTGTT	0.353																																						uc001tfo.2																			3	Substitution - Missense(3)		lung(3)		0						c.(829-831)TGT>TCT		solute carrier family 25 member 3 isoform a							156.0	137.0	144.0					12																	98994961		2203	4300	6503	SO:0001583	missense	5250				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	g.chr12:98994961G>C		CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.830G>C	12.37:g.98994961G>C	ENSP00000228318:p.Cys277Ser					SLC25A3_uc001tfm.2_Missense_Mutation_p.C276S|SLC25A3_uc001tfn.2_Missense_Mutation_p.C276S|SLC25A3_uc001tfp.2_Missense_Mutation_p.C276S|SLC25A3_uc001tfq.2_Missense_Mutation_p.C146S|SLC25A3_uc001tfr.2_Missense_Mutation_p.C277S|SLC25A3_uc001tfs.2_Missense_Mutation_p.C233S|SLC25A3_uc009ztn.2_Intron|SLC25A3_uc001tft.2_Missense_Mutation_p.C276S	p.C277S	NM_005888	NP_005879	Q00325	MPCP_HUMAN		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)	7	950	+		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)	277			Solcar 3.|Helical; Name=5; (Potential).		B3KS34|Q7Z7N7|Q96A03	Missense_Mutation	SNP	ENST00000228318.3	37	c.830G>C	CCDS9066.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038144	0.75617	.	.	ENSG00000075415	ENST00000401722;ENST00000188376;ENST00000228318;ENST00000551917;ENST00000552981;ENST00000549338	T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	5.47	4.57	0.56435	Mitochondrial carrier domain (2);	0.132083	0.85682	N	0.000000	D	0.86940	0.6054	M	0.86268	2.805	0.80722	D	1	B;P;P	0.47350	0.115;0.894;0.733	B;D;P	0.63033	0.349;0.91;0.623	D	0.89327	0.3644	10	0.87932	D	0	-21.5358	16.4996	0.84253	0.0:0.1312:0.8688:0.0	.	276;277;276	B2RE88;Q00325;Q00325-2	.;MPCP_HUMAN;.	S	276;276;277;277;276;276	ENSP00000383898:C276S;ENSP00000188376:C276S;ENSP00000228318:C277S;ENSP00000447310:C277S;ENSP00000448708:C276S;ENSP00000447740:C276S	ENSP00000188376:C276S	C	+	2	0	SLC25A3	97519092	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.976000	0.93442	1.418000	0.47098	0.650000	0.86243	TGT		PASS	0.353	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		4	94	4	94	---	---	---	---
SCYL2	55681	broad.mit.edu	37	12	100732613	100732613	+	Missense_Mutation	SNP	A	A	G	rs565980963		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr12:100732613A>G	ENST00000360820.2	+	18	2890	c.2453A>G	c.(2452-2454)aAt>aGt	p.N818S		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	818	Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)	p.N822S(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						CCAAACTTCAATGCTTTGAGT	0.463													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19254	0.0		0.0	False		,,,				2504	0.0					uc001thn.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|skin(1)	6						c.(2452-2454)AAT>AGT		SCY1-like 2 protein							148.0	154.0	152.0					12																	100732613		2203	4299	6502	SO:0001583	missense	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100732613A>G	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.2453A>G	12.37:g.100732613A>G	ENSP00000354061:p.Asn818Ser						p.N818S	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN			18	2503	+			818			Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.2453A>G	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	A	0.898	-0.723157	0.03158	.	.	ENSG00000136021	ENST00000360820	T	0.29397	1.57	5.76	-4.93	0.03066	.	0.834695	0.10937	N	0.617694	T	0.09247	0.0228	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38542	-0.9656	10	0.02654	T	1	.	9.1589	0.37009	0.267:0.2036:0.5294:0.0	.	818	Q6P3W7	SCYL2_HUMAN	S	818	ENSP00000354061:N818S	ENSP00000354061:N818S	N	+	2	0	SCYL2	99256744	0.909000	0.30893	0.101000	0.21167	0.983000	0.72400	1.557000	0.36299	-0.939000	0.03709	0.528000	0.53228	AAT		PASS	0.463	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		210	181	210	181	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104100623	104100623	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr12:104100623G>A	ENST00000388887.2	+	38	4254	c.4050G>A	c.(4048-4050)ggG>ggA	p.G1350G		NM_017564.9	NP_060034.9			stabilin 2									p.G1350G(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCTGCCCAGGGAATGCCCAGA	0.557																																						uc001tjw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|skin(5)	14						c.(4048-4050)GGG>GGA		stabilin 2 precursor							130.0	119.0	123.0					12																	104100623		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104100623G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4050G>A	12.37:g.104100623G>A							p.G1350G	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			38	4236	+			1350			Extracellular (Potential).|Laminin EGF-like 1.			Silent	SNP	ENST00000388887.2	37	c.4050G>A	CCDS31888.1																																																																																				PASS	0.557	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			45	47	45	47	---	---	---	---
MYO1H	283446	broad.mit.edu	37	12	109853332	109853332	+	Splice_Site	SNP	C	C	A	rs551268651		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr12:109853332C>A	ENST00000431443.2	+	14	1486	c.1486C>A	c.(1486-1488)Cgt>Agt	p.R496S	MYO1H_ENST00000310903.5_Splice_Site_p.R486S	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	496	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R486S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GTCTCGTAGCCGTAAGCTGGC	0.507																																						uc010sxn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1456-1458)CGT>AGT		myosin 1H							45.0	45.0	45.0					12																	109853332		1933	4145	6078	SO:0001630	splice_region_variant	283446					myosin complex	motor activity	g.chr12:109853332C>A		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.1485-1C>A	12.37:g.109853332C>A							p.R486S	NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN			14	1456	+			Error:Variant_position_missing_in_B4DNW6_after_alignment					F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	37	c.1456C>A		.	.	.	.	.	.	.	.	.	.	C	24.7	4.556165	0.86231	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.86230	-2.09;-2.09	5.5	4.6	0.57074	.	.	.	.	.	D	0.84442	0.5473	L	0.43598	1.365	0.43617	D	0.99599	D	0.53151	0.958	P	0.44647	0.456	D	0.85335	0.1092	9	0.59425	D	0.04	.	14.315	0.66443	0.1498:0.8502:0.0:0.0	.	486	F5H3C6	.	S	486;496	ENSP00000439182:R486S;ENSP00000444076:R496S	ENSP00000439182:R486S	R	+	1	0	MYO1H	108337715	0.999000	0.42202	0.968000	0.41197	0.936000	0.57629	3.469000	0.53093	1.283000	0.44513	0.655000	0.94253	CGT		PASS	0.507	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597	Missense_Mutation	7	11	7	11	---	---	---	---
RASAL1	8437	broad.mit.edu	37	12	113552694	113552694	+	Missense_Mutation	SNP	G	G	T	rs140563833	byFrequency	TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr12:113552694G>T	ENST00000261729.5	-	13	1407	c.1092C>A	c.(1090-1092)caC>caA	p.H364Q	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.H364Q|RASAL1_ENST00000446861.3_Missense_Mutation_p.H364Q|RASAL1_ENST00000546530.1_Missense_Mutation_p.H364Q			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	364	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)	p.H364Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TCAGGACCTCGTGCAGGTAGG	0.662																																						uc001tum.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1090-1092)CAC>CAA		RAS protein activator like 1							166.0	165.0	166.0					12																	113552694		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113552694G>T	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1092C>A	12.37:g.113552694G>T	ENSP00000261729:p.His364Gln					RASAL1_uc010syp.1_Missense_Mutation_p.H364Q|RASAL1_uc001tul.2_Missense_Mutation_p.H364Q|RASAL1_uc001tun.1_Missense_Mutation_p.H364Q|RASAL1_uc010syq.1_Missense_Mutation_p.H364Q|RASAL1_uc001tuo.3_Missense_Mutation_p.H364Q|RASAL1_uc010syr.1_Missense_Mutation_p.H364Q	p.H364Q	NM_004658	NP_004649	O95294	RASL1_HUMAN			13	1385	-			364			Ras-GAP.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.1092C>A	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904888	0.33628	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	4.43	-0.326	0.12698	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.79811	0.4510	L	0.39514	1.22	0.39453	D	0.967447	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.976;0.999;1.0	T	0.77598	-0.2528	10	0.59425	D	0.04	.	9.674	0.40030	0.4502:0.0:0.5498:0.0	.	364;364;364;376;364;364;364	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	Q	364	ENSP00000450244:H364Q;ENSP00000261729:H364Q;ENSP00000395920:H364Q;ENSP00000448510:H364Q	ENSP00000261729:H364Q	H	-	3	2	RASAL1	112037077	0.974000	0.33945	0.999000	0.59377	0.332000	0.28634	0.088000	0.14979	0.010000	0.14839	-0.657000	0.03884	CAC		PASS	0.662	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		106	258	106	258	---	---	---	---
TBX5	6910	broad.mit.edu	37	12	114837386	114837386	+	Silent	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr12:114837386C>T	ENST00000310346.4	-	4	960	c.294G>A	c.(292-294)acG>acA	p.T98T	TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000349716.5_Silent_p.T48T|TBX5_ENST00000526441.1_Silent_p.T98T|TBX5_ENST00000405440.2_Silent_p.T98T	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	98					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.T98T(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GAATGTACTTCGTTTTGGGAT	0.517																																					NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|pancreas(1)|skin(1)	8						c.(292-294)ACG>ACA		T-box 5 isoform 1							156.0	157.0	157.0					12																	114837386		2203	4300	6503	SO:0001819	synonymous_variant	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114837386C>T	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.294G>A	12.37:g.114837386C>T						TBX5_uc001tvp.2_Silent_p.T98T|TBX5_uc001tvq.2_Silent_p.T48T|TBX5_uc010syv.1_Silent_p.T98T	p.T98T	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	4	789	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		98			T-box.		A6ND77|O15301|Q96TB0|Q9Y4I2	Silent	SNP	ENST00000310346.4	37	c.294G>A	CCDS9173.1																																																																																				PASS	0.517	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		12	263	12	263	---	---	---	---
LRRC43	254050	broad.mit.edu	37	12	122669262	122669262	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr12:122669262C>T	ENST00000339777.4	+	2	375	c.347C>T	c.(346-348)cCg>cTg	p.P116L	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	116								p.P116L(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		ATCCGGAACCCGCTGACGATC	0.582																																						uc009zxm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(346-348)CCG>CTG		leucine rich repeat containing 43 isoform 1							46.0	47.0	47.0					12																	122669262		2006	4168	6174	SO:0001583	missense	254050							g.chr12:122669262C>T	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.347C>T	12.37:g.122669262C>T	ENSP00000344233:p.Pro116Leu					LRRC43_uc001ubw.3_5'UTR|LRRC43_uc009zxl.1_RNA	p.P116L	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	2	372	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		116					Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	c.347C>T	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495264	0.44352	.	.	ENSG00000158113	ENST00000339777	T	0.65364	-0.15	4.98	4.98	0.66077	.	.	.	.	.	T	0.77611	0.4156	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79921	-0.1599	9	0.66056	D	0.02	-15.6632	11.4155	0.49949	0.0:0.9157:0.0:0.0843	.	116	Q8N309	LRC43_HUMAN	L	116	ENSP00000344233:P116L	ENSP00000344233:P116L	P	+	2	0	LRRC43	121235215	0.994000	0.37717	0.061000	0.19648	0.201000	0.24016	5.436000	0.66538	2.303000	0.77524	0.462000	0.41574	CCG		PASS	0.582	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		4	34	4	34	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132502177	132502177	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr12:132502177C>T	ENST00000333577.4	+	21	4238	c.4129C>T	c.(4129-4131)Cgg>Tgg	p.R1377W	EP400_ENST00000332482.4_Missense_Mutation_p.R1304W|EP400_ENST00000389562.2_Missense_Mutation_p.R1340W|EP400_ENST00000389561.2_Missense_Mutation_p.R1341W|EP400_ENST00000330386.6_Missense_Mutation_p.R1341W			Q96L91	EP400_HUMAN	E1A binding protein p400	1377					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R1340W(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CGTCGAGCCCCGGCACCCAGG	0.607																																						uc001ujn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(4021-4023)CGG>TGG		E1A binding protein p400							48.0	47.0	47.0					12																	132502177		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132502177C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4129C>T	12.37:g.132502177C>T	ENSP00000333602:p.Arg1377Trp					EP400_uc001ujl.2_Missense_Mutation_p.R1340W|EP400_uc001ujm.2_Missense_Mutation_p.R1341W	p.R1341W	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	19	4056	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1377					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.4021C>T		.	.	.	.	.	.	.	.	.	.	C	7.532	0.658949	0.14645	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.92495	-3.05;-3.03;-3.03;-3.03;-2.99	5.79	2.57	0.30868	.	0.000000	0.85682	D	0.000000	D	0.95290	0.8472	M	0.72894	2.215	0.42745	D	0.993756	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.95628	0.8687	10	0.87932	D	0	.	15.8052	0.78501	0.3917:0.6083:0.0:0.0	.	1341;1341;1340	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	W	1377;1341;1340;1304;1341;1341;1341	ENSP00000333602:R1377W;ENSP00000374212:R1341W;ENSP00000374213:R1340W;ENSP00000331737:R1304W;ENSP00000330620:R1341W	ENSP00000330620:R1341W	R	+	1	2	EP400	131068130	0.003000	0.15002	0.388000	0.26195	0.052000	0.14988	-0.195000	0.09546	0.723000	0.32274	0.655000	0.94253	CGG		PASS	0.607	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		7	79	7	79	---	---	---	---
CENPJ	55835	broad.mit.edu	37	13	25458175	25458175	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr13:25458175C>G	ENST00000381884.4	-	16	3935	c.3750G>C	c.(3748-3750)caG>caC	p.Q1250H	CENPJ_ENST00000545981.1_3'UTR|CENPJ_ENST00000493190.1_5'Flank	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1250					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)	p.Q1250H(1)		endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTTTAACAGTCTGGTCAGGAA	0.333																																						uc001upt.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3748-3750)CAG>CAC		centromere protein J							165.0	155.0	158.0					13																	25458175		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25458175C>G	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3750G>C	13.37:g.25458175C>G	ENSP00000371308:p.Gln1250His					CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	p.Q1250H	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	16	4003	-		Lung SC(185;0.0225)|Breast(139;0.0602)	1250					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.3750G>C	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400497	0.62177	.	.	ENSG00000151849	ENST00000381884	T	0.78126	-1.15	5.93	4.16	0.48862	.	0.101452	0.64402	D	0.000001	T	0.72542	0.3473	L	0.52364	1.645	0.80722	D	1	P	0.40578	0.722	B	0.43445	0.42	T	0.69702	-0.5074	10	0.33141	T	0.24	.	8.6187	0.33849	0.0:0.736:0.1323:0.1316	.	1250	Q9HC77	CENPJ_HUMAN	H	1250	ENSP00000371308:Q1250H	ENSP00000371308:Q1250H	Q	-	3	2	CENPJ	24356175	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	2.094000	0.41719	1.479000	0.48272	0.561000	0.74099	CAG		PASS	0.333	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		13	181	13	181	---	---	---	---
FLT3	2322	broad.mit.edu	37	13	28610129	28610129	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr13:28610129G>A	ENST00000241453.7	-	11	1442	c.1361C>T	c.(1360-1362)tCg>tTg	p.S454L	FLT3_ENST00000537084.1_Missense_Mutation_p.S454L|FLT3_ENST00000380982.4_Missense_Mutation_p.S454L	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	454					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.S454L(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTATCCATCCGAGAAACAGGA	0.448			"""Mis, O"""		"""AML, ALL"""																																	uc001urw.2				Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(1360-1362)TCG>TTG		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						202.0	194.0	196.0					13																	28610129		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28610129G>A	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1361C>T	13.37:g.28610129G>A	ENSP00000241453:p.Ser454Leu					FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.S454L	p.S454L	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	11	1443	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	454			Extracellular (Potential).		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.1361C>T	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585977	0.86748	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.78816	-1.13;-1.21;-0.94	5.03	5.03	0.67393	.	0.104529	0.43260	D	0.000593	T	0.75064	0.3799	N	0.24115	0.695	0.38955	D	0.958435	D;D	0.67145	0.996;0.962	P;B	0.51945	0.685;0.228	T	0.80460	-0.1373	10	0.72032	D	0.01	.	16.2058	0.82131	0.0:0.0:1.0:0.0	.	454;454	P36888-2;P36888	.;FLT3_HUMAN	L	454	ENSP00000241453:S454L;ENSP00000370369:S454L;ENSP00000438139:S454L	ENSP00000241453:S454L	S	-	2	0	FLT3	27508129	0.994000	0.37717	0.991000	0.47740	0.955000	0.61496	3.984000	0.56923	2.491000	0.84063	0.563000	0.77884	TCG		PASS	0.448	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			91	293	91	293	---	---	---	---
PDS5B	23047	broad.mit.edu	37	13	33327663	33327663	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr13:33327663C>T	ENST00000315596.10	+	25	3116	c.2930C>T	c.(2929-2931)gCa>gTa	p.A977V		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	977					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.A977V(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AAGCAGCATGCAGCTGTTAGT	0.368																																						uc010abf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|pancreas(1)	4						c.(2929-2931)GCA>GTA		PDS5, regulator of cohesion maintenance, homolog							65.0	62.0	63.0					13																	33327663		1867	4107	5974	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33327663C>T	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.2930C>T	13.37:g.33327663C>T	ENSP00000313851:p.Ala977Val					PDS5B_uc010abg.2_RNA	p.A977V	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	25	3088	+		Lung SC(185;0.0367)	977					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.2930C>T	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838610	0.91117	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.02	5.02	0.67125	Armadillo-like helical (1);Armadillo-type fold (1);	0.050280	0.85682	D	0.000000	T	0.42854	0.1221	N	0.08118	0	0.80722	D	1	P	0.42375	0.778	P	0.46026	0.501	T	0.50841	-0.8780	9	0.48119	T	0.1	-16.9727	18.3158	0.90220	0.0:1.0:0.0:0.0	.	977	Q9NTI5	PDS5B_HUMAN	V	977	.	ENSP00000313851:A977V	A	+	2	0	PDS5B	32225663	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.538000	0.82048	2.311000	0.77944	0.484000	0.47621	GCA		PASS	0.368	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		4	71	4	71	---	---	---	---
CSNK1A1L	122011	broad.mit.edu	37	13	37678790	37678790	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr13:37678790C>T	ENST00000379800.3	-	1	1013	c.604G>A	c.(604-606)Gat>Aat	p.D202N		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	202	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D202N(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TCCATGTCATCTCGGCGGCTC	0.438																																						uc001uwm.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(604-606)GAT>AAT		casein kinase 1, alpha 1-like							166.0	157.0	160.0					13																	37678790		2203	4300	6503	SO:0001583	missense	122011				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37678790C>T	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.604G>A	13.37:g.37678790C>T	ENSP00000369126:p.Asp202Asn						p.D202N	NM_145203	NP_660204	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	1012	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	202			Protein kinase.		Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	c.604G>A	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758871	0.69763	.	.	ENSG00000180138	ENST00000379800	T	0.07216	3.21	1.08	1.08	0.20341	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.47469	0.1447	H	0.99980	5.19	0.44492	D	0.997432	D	0.89917	1.0	D	0.97110	1.0	T	0.61227	-0.7105	10	0.87932	D	0	.	7.9927	0.30250	0.0:1.0:0.0:0.0	.	202	Q8N752	KC1AL_HUMAN	N	202	ENSP00000369126:D202N	ENSP00000369126:D202N	D	-	1	0	CSNK1A1L	36576790	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	3.427000	0.52785	0.871000	0.35750	0.561000	0.74099	GAT		PASS	0.438	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		29	163	29	163	---	---	---	---
KBTBD7	84078	broad.mit.edu	37	13	41766967	41766967	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr13:41766967G>C	ENST00000379483.3	-	1	1735	c.1427C>G	c.(1426-1428)tCc>tGc	p.S476C		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	476								p.S476C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GAGTTCAAAGGAATAGAAGGA	0.448																																						uc001uxw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1426-1428)TCC>TGC		kelch repeat and BTB (POZ) domain containing 7							70.0	65.0	67.0					13																	41766967		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41766967G>C	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1427C>G	13.37:g.41766967G>C	ENSP00000368797:p.Ser476Cys					uc001uxv.1_Intron	p.S476C	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	1736	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	476			Kelch 2.		B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.1427C>G	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	G	8.476	0.858714	0.17178	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.67865	-0.29	5.5	5.5	0.81552	Kelch-type beta propeller (1);	0.160135	0.44097	D	0.000486	T	0.75852	0.3906	L	0.44542	1.39	0.45087	D	0.998104	D	0.89917	1.0	D	0.73380	0.98	T	0.73767	-0.3879	10	0.37606	T	0.19	.	16.8809	0.86062	0.0:0.0:1.0:0.0	.	476	Q8WVZ9	KBTB7_HUMAN	C	476;378	ENSP00000368797:S476C	ENSP00000368797:S476C	S	-	2	0	KBTBD7	40664967	1.000000	0.71417	1.000000	0.80357	0.019000	0.09904	5.815000	0.69215	2.571000	0.86741	0.650000	0.86243	TCC		PASS	0.448	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		6	103	6	103	---	---	---	---
KBTBD7	84078	broad.mit.edu	37	13	41767240	41767240	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr13:41767240G>T	ENST00000379483.3	-	1	1462	c.1154C>A	c.(1153-1155)tCa>tAa	p.S385*		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	385								p.S385*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		ACAGACAGCTGAGGAGGTGAC	0.502																																						uc001uxw.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1153-1155)TCA>TAA		kelch repeat and BTB (POZ) domain containing 7							90.0	81.0	84.0					13																	41767240		2203	4300	6503	SO:0001587	stop_gained	84078						protein binding	g.chr13:41767240G>T	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1154C>A	13.37:g.41767240G>T	ENSP00000368797:p.Ser385*					uc001uxv.1_Intron	p.S385*	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	1463	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	385					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Nonsense_Mutation	SNP	ENST00000379483.3	37	c.1154C>A	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368241	0.82463	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	.	.	.	4.9	3.16	0.36331	.	0.210717	0.32901	U	0.005506	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	8.5199	0.33268	0.1893:0.0:0.8107:0.0	.	.	.	.	X	385;287	.	ENSP00000368797:S385X	S	-	2	0	KBTBD7	40665240	0.997000	0.39634	0.966000	0.40874	0.034000	0.12701	2.733000	0.47360	1.051000	0.40369	-0.262000	0.10625	TCA		PASS	0.502	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		12	180	12	180	---	---	---	---
VWA8	23078	broad.mit.edu	37	13	42407528	42407528	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr13:42407528C>A	ENST00000379310.3	-	13	1633	c.1565G>T	c.(1564-1566)gGc>gTc	p.G522V	VWA8_ENST00000281496.6_Missense_Mutation_p.G522V	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	522						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.G522V(1)									AGCAAGCGTGCCCGCATTCAC	0.517																																						uc001uyj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6						c.(1564-1566)GGC>GTC		hypothetical protein LOC23078 isoform a							67.0	58.0	61.0					13																	42407528		2203	4300	6503	SO:0001583	missense	23078					extracellular region	ATP binding|ATPase activity	g.chr13:42407528C>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1565G>T	13.37:g.42407528C>A	ENSP00000368612:p.Gly522Val					KIAA0564_uc001uyk.2_Missense_Mutation_p.G522V	p.G522V	NM_015058	NP_055873	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	13	1635	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	522					O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.1565G>T	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570803	0.65765	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.41758	0.99;0.99	5.44	5.44	0.79542	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.64405	0.2595	M	0.62266	1.93	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.65504	-0.6152	10	0.72032	D	0.01	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	522	A3KMH1	K0564_HUMAN	V	426;522;522	ENSP00000368612:G522V;ENSP00000281496:G522V	ENSP00000251030:G426V	G	-	2	0	KIAA0564	41305528	1.000000	0.71417	0.978000	0.43139	0.038000	0.13279	7.670000	0.83925	2.715000	0.92844	0.655000	0.94253	GGC		PASS	0.517	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		43	39	43	39	---	---	---	---
CYSLTR2	57105	broad.mit.edu	37	13	49281675	49281675	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr13:49281675C>G	ENST00000282018.3	+	1	725	c.722C>G	c.(721-723)tCt>tGt	p.S241C		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	241					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)	p.S241C(1)		endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	CTGCGGGTTTCTCACAGGAAG	0.512																																						uc010acx.1																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(721-723)TCT>TGT		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)						110.0	105.0	107.0					13																	49281675		2203	4300	6503	SO:0001583	missense	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281675C>G	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.722C>G	13.37:g.49281675C>G	ENSP00000282018:p.Ser241Cys					CYSLTR2_uc010acy.1_Missense_Mutation_p.S241C|CYSLTR2_uc010acz.1_Missense_Mutation_p.S241C|CYSLTR2_uc010ada.1_Missense_Mutation_p.S241C|CYSLTR2_uc010adb.1_Missense_Mutation_p.S241C|CYSLTR2_uc010adc.1_Missense_Mutation_p.S241C|CYSLTR2_uc010add.1_Missense_Mutation_p.S241C|CYSLTR2_uc010acw.1_Missense_Mutation_p.S241C|CYSLTR2_uc001vck.2_Missense_Mutation_p.S241C	p.S241C	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	6	1405	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	241			Cytoplasmic (Potential).		Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	c.722C>G	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	C	9.882	1.201739	0.22121	.	.	ENSG00000152207	ENST00000282018	T	0.21543	2.0	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.411500	0.22690	N	0.056838	T	0.27419	0.0673	M	0.71206	2.165	0.18873	N	0.999989	B	0.29805	0.257	B	0.28011	0.085	T	0.17992	-1.0351	10	0.54805	T	0.06	.	15.0413	0.71793	0.0:0.8476:0.1524:0.0	.	241	Q9NS75	CLTR2_HUMAN	C	241	ENSP00000282018:S241C	ENSP00000282018:S241C	S	+	2	0	CYSLTR2	48179676	0.033000	0.19621	0.989000	0.46669	0.467000	0.32768	2.144000	0.42197	2.678000	0.91216	0.655000	0.94253	TCT		PASS	0.512	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			5	126	5	126	---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58299156	58299156	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr13:58299156C>T	ENST00000377918.3	+	4	3234	c.3208C>T	c.(3208-3210)Cag>Tag	p.Q1070*		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1070					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q1070*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGCAAGCAGTCAGTACTTGCC	0.532																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(3208-3210)CAG>TAG		protocadherin 17 precursor							105.0	101.0	102.0					13																	58299156		2203	4300	6503	SO:0001587	stop_gained	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58299156C>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3208C>T	13.37:g.58299156C>T	ENSP00000367151:p.Gln1070*					PCDH17_uc010aec.1_Nonsense_Mutation_p.Q1069*|PCDH17_uc001vhr.1_Nonsense_Mutation_p.Q159*	p.Q1070*	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	4	4100	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	1070			Cytoplasmic (Potential).		A8K1R5|Q5VVW9|Q5VVX0	Nonsense_Mutation	SNP	ENST00000377918.3	37	c.3208C>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	37	6.440256	0.97568	.	.	ENSG00000118946	ENST00000377918	.	.	.	5.96	5.11	0.69529	.	0.182040	0.49916	D	0.000140	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2752	0.66175	0.0:0.9279:0.0:0.0721	.	.	.	.	X	1070	.	.	Q	+	1	0	PCDH17	57197157	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.478000	0.60230	1.499000	0.48617	0.655000	0.94253	CAG		PASS	0.532	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		47	130	47	130	---	---	---	---
RAB20	55647	broad.mit.edu	37	13	111176244	111176244	+	Missense_Mutation	SNP	T	T	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr13:111176244T>A	ENST00000267328.3	-	2	686	c.473A>T	c.(472-474)tAt>tTt	p.Y158F		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	158					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)	p.Y158F(2)		endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			GATCTTTTTATAAAGGGCCAC	0.567																																						uc001vqy.2																			2	Substitution - Missense(2)		lung(2)		0						c.(472-474)TAT>TTT		RAB20, member RAS oncogene family							67.0	64.0	65.0					13																	111176244		2203	4300	6503	SO:0001583	missense	55647				protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	g.chr13:111176244T>A	AK000436	CCDS9512.1	13q34	2008-07-18			ENSG00000139832	ENSG00000139832		"""RAB, member RAS oncogene"""	18260	protein-coding gene	gene with protein product						11697911	Standard	NM_017817		Approved	FLJ20429	uc001vqy.3	Q9NX57	OTTHUMG00000017343	ENST00000267328.3:c.473A>T	13.37:g.111176244T>A	ENSP00000267328:p.Tyr158Phe						p.Y158F	NM_017817	NP_060287	Q9NX57	RAB20_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)		2	678	-	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		158					Q5T9X5|Q9NX49	Missense_Mutation	SNP	ENST00000267328.3	37	c.473A>T	CCDS9512.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.841584	0.51057	.	.	ENSG00000139832	ENST00000267328	T	0.73575	-0.76	5.09	3.86	0.44501	.	0.058675	0.64402	D	0.000001	T	0.66626	0.2808	N	0.04203	-0.255	0.54753	D	0.999987	D	0.55172	0.97	P	0.59761	0.863	T	0.69359	-0.5166	10	0.44086	T	0.13	-13.6426	11.7468	0.51825	0.0:0.0:0.1479:0.8521	.	158	Q9NX57	RAB20_HUMAN	F	158	ENSP00000267328:Y158F	ENSP00000267328:Y158F	Y	-	2	0	RAB20	109974245	1.000000	0.71417	0.378000	0.26068	0.467000	0.32768	7.004000	0.76317	0.738000	0.32606	0.459000	0.35465	TAT		PASS	0.567	RAB20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045760.2	NM_017817		4	73	4	73	---	---	---	---
ARHGAP5	394	broad.mit.edu	37	14	32624153	32624153	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr14:32624153G>A	ENST00000345122.3	+	7	4823	c.4508G>A	c.(4507-4509)tGa>tAa	p.*1503*	ARHGAP5_ENST00000556611.1_Silent_p.*1502*|ARHGAP5_ENST00000433497.1_Silent_p.*242*|ARHGAP5_ENST00000432921.1_Silent_p.*1502*|ARHGAP5_ENST00000539826.2_Silent_p.*1503*|ARHGAP5_ENST00000396582.2_Silent_p.*238*	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	0					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.*1503*(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GGTATTATATGAGTAGGAAGT	0.423																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(4507-4509)TGA>TAA		Rho GTPase activating protein 5 isoform b							39.0	36.0	37.0					14																	32624153		2203	4288	6491	SO:0001819	synonymous_variant	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32624153G>A	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.4508G>A	14.37:g.32624153G>A						ARHGAP5_uc001wrm.2_Silent_p.*1502*|ARHGAP5_uc001wrn.2_Silent_p.*1503*|ARHGAP5_uc001wro.2_Silent_p.*242*|ARHGAP5_uc001wrp.2_Silent_p.*238*	p.*1503*	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	7	4747	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		1503					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Silent	SNP	ENST00000345122.3	37	c.4508G>A	CCDS32062.1																																																																																				PASS	0.423	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		27	46	27	46	---	---	---	---
BAZ1A	11177	broad.mit.edu	37	14	35272070	35272070	+	Missense_Mutation	SNP	T	T	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr14:35272070T>C	ENST00000382422.2	-	6	1178	c.851A>G	c.(850-852)cAt>cGt	p.H284R	BAZ1A_ENST00000360310.1_Missense_Mutation_p.H284R|BAZ1A_ENST00000358716.4_Missense_Mutation_p.H284R|AL355885.1_ENST00000581314.1_RNA			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	284					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)	p.H284R(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTGACTAATATGTATTCGTTT	0.363																																						uc001wsk.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7						c.(850-852)CAT>CGT		bromodomain adjacent to zinc finger domain, 1A							101.0	101.0	101.0					14																	35272070		2203	4300	6503	SO:0001583	missense	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35272070T>C	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.851A>G	14.37:g.35272070T>C	ENSP00000371859:p.His284Arg					BAZ1A_uc001wsl.2_Missense_Mutation_p.H284R|BAZ1A_uc001wsm.1_Missense_Mutation_p.H284R	p.H284R	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	7	1419	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		284					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	c.851A>G	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	C	2.659	-0.280193	0.05642	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310	T;T;T	0.56776	0.44;0.44;0.44	5.42	3.6	0.41247	.	0.413994	0.26314	N	0.025084	T	0.28995	0.0720	N	0.14661	0.345	0.19300	N	0.999976	B;B	0.19817	0.039;0.023	B;B	0.17722	0.019;0.008	T	0.19321	-1.0309	10	0.14252	T	0.57	.	6.0511	0.19787	0.0722:0.1345:0.6548:0.1385	.	284;284	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	R	284	ENSP00000351555:H284R;ENSP00000371859:H284R;ENSP00000353458:H284R	ENSP00000351555:H284R	H	-	2	0	BAZ1A	34341821	0.973000	0.33851	0.583000	0.28640	0.393000	0.30537	1.598000	0.36740	0.366000	0.24427	-0.719000	0.03609	CAT		PASS	0.363	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			62	15	62	15	---	---	---	---
RALGAPA1	253959	broad.mit.edu	37	14	36140706	36140706	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr14:36140706G>A	ENST00000389698.3	-	25	3963	c.3573C>T	c.(3571-3573)atC>atT	p.I1191I	RALGAPA1_ENST00000258840.6_Silent_p.I1238I|RALGAPA1_ENST00000307138.6_Silent_p.I1191I|RALGAPA1_ENST00000382366.3_Silent_p.I1204I	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1191					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.I1191I(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGTGTTTGATGATTGTATTGA	0.333																																						uc001wti.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|breast(1)	4						c.(3571-3573)ATC>ATT		Ral GTPase activating protein, alpha subunit 1							44.0	44.0	44.0					14																	36140706		2203	4300	6503	SO:0001819	synonymous_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36140706G>A	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.3573C>T	14.37:g.36140706G>A						RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Silent_p.I1191I|RALGAPA1_uc010tpv.1_Silent_p.I1204I|RALGAPA1_uc010tpw.1_Silent_p.I1238I	p.I1191I	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN			25	3964	-			1191					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Silent	SNP	ENST00000389698.3	37	c.3573C>T	CCDS32065.1																																																																																				PASS	0.333	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		16	35	16	35	---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44975031	44975031	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr14:44975031G>A	ENST00000340446.4	-	1	1451	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	387	Pro-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.P387L(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTGTGCTGAGGGAGACCGAAT	0.527																																						uc001wvn.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(1159-1161)CCC>CTC		fibrous sheath CABYR binding protein							79.0	90.0	86.0					14																	44975031		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975031G>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1160C>T	14.37:g.44975031G>A	ENSP00000344579:p.Pro387Leu						p.P387L	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1469	-			387			Pro-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.1160C>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.286651	0.23478	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.15952	2.38	4.43	2.43	0.29744	.	.	.	.	.	T	0.26268	0.0641	L	0.46157	1.445	0.09310	N	1	D	0.67145	0.996	P	0.62014	0.897	T	0.06285	-1.0835	9	0.41790	T	0.15	.	5.673	0.17733	0.1106:0.1998:0.6895:0.0	.	387	Q5H9T9	FSCB_HUMAN	L	387	ENSP00000344579:P387L	ENSP00000344579:P387L	P	-	2	0	FSCB	44044781	0.396000	0.25262	0.002000	0.10522	0.005000	0.04900	2.231000	0.43009	1.007000	0.39238	0.650000	0.86243	CCC		PASS	0.527	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		121	33	121	33	---	---	---	---
KTN1	3895	broad.mit.edu	37	14	56146352	56146352	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr14:56146352C>A	ENST00000395314.3	+	43	4086	c.4018C>A	c.(4018-4020)Cag>Aag	p.Q1340K	KTN1_ENST00000395308.1_Missense_Mutation_p.Q1289K|KTN1_ENST00000413890.2_Missense_Mutation_p.Q1289K|KTN1_ENST00000555573.1_Missense_Mutation_p.Q317K|KTN1_ENST00000395309.3_Missense_Mutation_p.Q1340K|KTN1_ENST00000554507.1_Missense_Mutation_p.Q578K|KTN1_ENST00000395311.1_Missense_Mutation_p.Q1289K|KTN1_ENST00000438792.2_Missense_Mutation_p.Q1283K|KTN1_ENST00000416613.1_Missense_Mutation_p.Q1340K	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1340					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.Q1340K(1)		breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GCAGTTGCTTCAGGCGGTAAA	0.403			T	RET	papillary thryoid																																	uc001xcb.2				Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						c.(4018-4020)CAG>AAG		kinectin 1 isoform a							129.0	127.0	128.0					14																	56146352		2203	4300	6503	SO:0001583	missense	3895				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56146352C>A		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.4018C>A	14.37:g.56146352C>A	ENSP00000378725:p.Gln1340Lys					KTN1_uc001xce.2_Missense_Mutation_p.Q1283K|KTN1_uc001xcc.2_Missense_Mutation_p.Q1340K|KTN1_uc001xcd.2_Missense_Mutation_p.Q1289K|KTN1_uc010trb.1_Missense_Mutation_p.Q1312K|KTN1_uc001xcf.1_Missense_Mutation_p.Q1289K|KTN1_uc010aoq.2_Missense_Mutation_p.Q578K|KTN1_uc010trc.1_Missense_Mutation_p.Q317K|KTN1_uc001xcg.2_Missense_Mutation_p.Q273K	p.Q1340K	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN			44	4320	+			1340			Lumenal (Potential).|Potential.		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	c.4018C>A	CCDS41957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.79|16.79	3.221129|3.221129	0.58560|0.58560	.|.	.|.	ENSG00000126777|ENSG00000126777	ENST00000554294|ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613;ENST00000554507;ENST00000555573	.|T;T;T;T;T;T;T;T;T	.|0.77098	.|1.59;1.61;1.61;1.61;1.59;1.59;1.61;-1.07;-1.07	6.17|6.17	5.28|5.28	0.74379|0.74379	.|.	.|0.272597	.|0.26590	.|N	.|0.023523	T|T	0.77336|0.77336	0.4115|0.4115	L|L	0.32530|0.32530	0.975|0.975	0.38873|0.38873	D|D	0.956748|0.956748	.|P;P;D;P;P;P	.|0.56287	.|0.775;0.792;0.975;0.792;0.792;0.792	.|B;B;P;B;B;B	.|0.53146	.|0.356;0.337;0.719;0.337;0.337;0.337	T|T	0.77678|0.77678	-0.2498|-0.2498	5|10	.|0.33940	.|T	.|0.23	-4.4149|-4.4149	15.5521|15.5521	0.76161|0.76161	0.0:0.7391:0.2609:0.0|0.0:0.7391:0.2609:0.0	.|.	.|317;1312;578;1283;1289;1340	.|B7Z6P3;B4DZ88;G3V4Y7;Q86UP2-2;Q17RZ5;Q86UP2	.|.;.;.;.;.;KTN1_HUMAN	L|K	110|1289;1340;1283;1340;1289;1289;1340;578;317	.|ENSP00000394992:Q1289K;ENSP00000378720:Q1340K;ENSP00000391964:Q1283K;ENSP00000378725:Q1340K;ENSP00000378719:Q1289K;ENSP00000378722:Q1289K;ENSP00000388807:Q1340K;ENSP00000452073:Q578K;ENSP00000451698:Q317K	.|ENSP00000334083:Q135K	F|Q	+|+	3|1	2|0	KTN1|KTN1	55216105|55216105	0.998000|0.998000	0.40836|0.40836	0.998000|0.998000	0.56505|0.56505	0.865000|0.865000	0.49528|0.49528	3.156000|3.156000	0.50708|0.50708	1.611000|1.611000	0.50210|0.50210	0.655000|0.655000	0.94253|0.94253	TTC|CAG		PASS	0.403	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			4	116	4	116	---	---	---	---
ADAM21	8747	broad.mit.edu	37	14	70925515	70925515	+	Nonsense_Mutation	SNP	T	T	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr14:70925515T>A	ENST00000603540.1	+	2	1557	c.1299T>A	c.(1297-1299)tgT>tgA	p.C433*	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Nonsense_Mutation_p.C433*	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	433	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C433*(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AAGACGCCTGTTGTCTGTTGA	0.502																																						uc001xmd.2																			2	Substitution - Nonsense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(1297-1299)TGT>TGA		ADAM metallopeptidase domain 21 preproprotein							75.0	72.0	73.0					14																	70925515		2203	4300	6503	SO:0001587	stop_gained	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70925515T>A	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1299T>A	14.37:g.70925515T>A	ENSP00000474385:p.Cys433*						p.C433*	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	1	1299	+			433			Disintegrin.|Extracellular (Potential).		O43507|Q2VPC6|Q32MR0	Nonsense_Mutation	SNP	ENST00000603540.1	37	c.1299T>A	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	T	19.19	3.780395	0.70222	.	.	ENSG00000139985	ENST00000267499	.	.	.	4.48	4.48	0.54585	.	0.000000	0.48286	D	0.000192	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7849	0.57498	0.0:0.0:0.0:1.0	.	.	.	.	X	433	.	ENSP00000267499:C433X	C	+	3	2	ADAM21	69995268	0.990000	0.36364	1.000000	0.80357	0.291000	0.27294	-0.024000	0.12435	2.007000	0.58848	0.455000	0.32223	TGT		PASS	0.502	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			100	13	100	13	---	---	---	---
HERC2P3	283755	broad.mit.edu	37	15	20649534	20649534	+	RNA	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr15:20649534G>A	ENST00000428453.1	-	0	2664							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.L659L(1)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GGGGCTGGCAGCTCTGCCAGC	0.572																																						uc001ytg.2																			1	Substitution - coding silent(1)		lung(1)								c.(1975-1977)CTG>TTG		RecName: Full=Putative HERC2-like protein 3;							136.0	115.0	122.0					15																	20649534		2191	4275	6466			0							g.chr15:20649534G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20649534G>A						uc010tyx.1_RNA|uc001yth.3_Silent_p.L659L|uc010tyy.1_Silent_p.L659L	p.L659L							18	2684	-									Silent	SNP	ENST00000428453.1	37	c.1975C>T																																																																																					PASS	0.572	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		8	604	8	604	---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25928476	25928476	+	Missense_Mutation	SNP	A	A	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr15:25928476A>T	ENST00000356865.6	-	17	3560	c.3449T>A	c.(3448-3450)cTg>cAg	p.L1150Q		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1150					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L1150Q(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GTTGGTCAGCAGCACATTGGC	0.562																																						uc010ayu.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(3448-3450)CTG>CAG		ATPase, class V, type 10A							75.0	64.0	68.0					15																	25928476		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25928476A>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3449T>A	15.37:g.25928476A>T	ENSP00000349325:p.Leu1150Gln						p.L1150Q	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	17	3555	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1150			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.3449T>A	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.056203	0.55325	.	.	ENSG00000206190	ENST00000356865	T	0.74632	-0.86	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.91287	0.7253	H	0.98388	4.22	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.94442	0.7659	10	0.87932	D	0	-17.1961	14.3699	0.66833	1.0:0.0:0.0:0.0	.	1150	O60312	AT10A_HUMAN	Q	1150	ENSP00000349325:L1150Q	ENSP00000349325:L1150Q	L	-	2	0	ATP10A	23479569	1.000000	0.71417	0.279000	0.24732	0.033000	0.12548	9.029000	0.93718	1.790000	0.52503	0.533000	0.62120	CTG		PASS	0.562	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		21	18	21	18	---	---	---	---
SLC12A6	9990	broad.mit.edu	37	15	34528946	34528946	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr15:34528946C>T	ENST00000354181.3	-	23	3497	c.3005G>A	c.(3004-3006)cGg>cAg	p.R1002Q	SLC12A6_ENST00000560164.1_Missense_Mutation_p.R814Q|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R993Q|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R987Q|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R814Q|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R1002Q|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R951Q|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R943Q|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R1002Q|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R943Q			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	1002					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.R993Q(1)|p.R951Q(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CCGCATGTGCCGGAGCATCTG	0.458																																						uc001zhw.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(1)|skin(1)	7						c.(3004-3006)CGG>CAG		solute carrier family 12, member 6 isoform a	Potassium Chloride(DB00761)						238.0	203.0	215.0					15																	34528946		2201	4298	6499	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34528946C>T	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.3005G>A	15.37:g.34528946C>T	ENSP00000346112:p.Arg1002Gln					SLC12A6_uc001zhv.2_Missense_Mutation_p.R951Q|SLC12A6_uc001zhx.2_Missense_Mutation_p.R987Q|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.R943Q|SLC12A6_uc001zib.2_Missense_Mutation_p.R993Q|SLC12A6_uc001zic.2_Missense_Mutation_p.R1002Q|SLC12A6_uc010bau.2_Missense_Mutation_p.R1002Q|SLC12A6_uc001zid.2_Missense_Mutation_p.R943Q|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.R814Q	p.R1002Q	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	22	3169	-		all_lung(180;2.78e-08)	1002			Cytoplasmic (Potential).		A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.3005G>A	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646029	0.67358	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.16	5.16	0.70880	.	0.056801	0.64402	N	0.000002	T	0.35740	0.0942	L	0.49126	1.545	0.53688	D	0.999974	P;P;P;B	0.46656	0.533;0.882;0.602;0.042	B;B;B;B	0.32928	0.058;0.155;0.066;0.012	T	0.42599	-0.9442	10	0.56958	D	0.05	.	17.5803	0.87965	0.0:1.0:0.0:0.0	.	987;1002;951;814	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	Q	951;987;993;943;943;814	ENSP00000290209:R951Q;ENSP00000380819:R987Q;ENSP00000380814:R943Q;ENSP00000387725:R943Q;ENSP00000390199:R814Q	ENSP00000290209:R951Q	R	-	2	0	SLC12A6	32316238	0.999000	0.42202	1.000000	0.80357	0.973000	0.67179	3.933000	0.56545	2.692000	0.91855	0.650000	0.86243	CGG		PASS	0.458	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		27	116	27	116	---	---	---	---
CASC5	57082	broad.mit.edu	37	15	40916355	40916355	+	Missense_Mutation	SNP	C	C	T	rs143600140		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr15:40916355C>T	ENST00000346991.5	+	11	4361	c.3971C>T	c.(3970-3972)tCc>tTc	p.S1324F	CASC5_ENST00000399668.2_Missense_Mutation_p.S1298F			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1324					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S1324F(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GTTTGTGGATCCAGTGATAAT	0.358													C|||	1	0.000199681	0.0	0.0	5008	,	,		21781	0.001		0.0	False		,,,				2504	0.0					uc010bbs.1																			2	Substitution - Missense(2)		lung(2)	breast(3)|central_nervous_system(1)|skin(1)	5						c.(3970-3972)TCC>TTC		cancer susceptibility candidate 5 isoform 1							105.0	102.0	103.0					15																	40916355		1896	4119	6015	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40916355C>T	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.3971C>T	15.37:g.40916355C>T	ENSP00000335463:p.Ser1324Phe					CASC5_uc010ucq.1_Missense_Mutation_p.S1148F|CASC5_uc001zme.2_Missense_Mutation_p.S1298F|CASC5_uc010bbt.1_Missense_Mutation_p.S1298F	p.S1324F	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	4132	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	1324					Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.3971C>T	CCDS42023.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.40	2.823344	0.50739	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.20738	2.05;2.05	5.54	1.36	0.22044	.	0.829591	0.10470	N	0.670929	T	0.18635	0.0447	L	0.53249	1.67	0.09310	N	1	B;B;B	0.21071	0.051;0.051;0.051	B;B;B	0.21917	0.037;0.037;0.037	T	0.33701	-0.9858	10	0.87932	D	0	.	3.1917	0.06619	0.1289:0.4681:0.2513:0.1518	.	1298;1324;1298	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	F	1324;1298;1298	ENSP00000335463:S1324F;ENSP00000382576:S1298F	ENSP00000260369:S1298F	S	+	2	0	CASC5	38703647	0.073000	0.21202	0.953000	0.39169	0.930000	0.56654	0.355000	0.20163	0.810000	0.34279	0.650000	0.86243	TCC		PASS	0.358	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		10	166	10	166	---	---	---	---
ZNF106	64397	broad.mit.edu	37	15	42742027	42742027	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr15:42742027C>T	ENST00000263805.4	-	2	2700	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	792					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E792K(1)									ATGACCTGTTCCCAGTTGACA	0.468																																						uc001zpw.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(2374-2376)GAA>AAA		zinc finger protein 106 homolog							203.0	198.0	200.0					15																	42742027		2203	4299	6502	SO:0001583	missense	64397					nucleolus	zinc ion binding	g.chr15:42742027C>T	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.2374G>A	15.37:g.42742027C>T	ENSP00000263805:p.Glu792Lys					ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.E575K|ZFP106_uc001zpy.1_Missense_Mutation_p.E815K	p.E792K	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN		GBM - Glioblastoma multiforme(94;8.6e-07)	2	2709	-		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)	792					B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.2374G>A	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	C	32	5.179856	0.94846	.	.	ENSG00000103994	ENST00000263805	T	0.36340	1.26	5.83	5.83	0.93111	.	0.190338	0.45606	D	0.000360	T	0.59183	0.2175	L	0.58101	1.795	0.80722	D	1	D;D	0.76494	0.999;0.982	D;P	0.71656	0.974;0.734	T	0.58434	-0.7637	10	0.72032	D	0.01	-24.8546	20.1025	0.97880	0.0:1.0:0.0:0.0	.	575;792	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	K	792	ENSP00000263805:E792K	ENSP00000263805:E792K	E	-	1	0	ZFP106	40529319	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.749000	0.94314	0.650000	0.86243	GAA		PASS	0.468	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		22	273	22	273	---	---	---	---
MFAP1	4236	broad.mit.edu	37	15	44109429	44109429	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr15:44109429C>G	ENST00000267812.3	-	2	529	c.297G>C	c.(295-297)gaG>gaC	p.E99D		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	99					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)	p.E99D(1)		breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		GACATTACCTCTCTTCCACAT	0.403																																						uc001zth.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(295-297)GAG>GAC		microfibrillar-associated protein 1							143.0	137.0	139.0					15																	44109429		2198	4298	6496	SO:0001583	missense	4236					microfibril		g.chr15:44109429C>G		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.297G>C	15.37:g.44109429C>G	ENSP00000267812:p.Glu99Asp						p.E99D	NM_005926	NP_005917	P55081	MFAP1_HUMAN		GBM - Glioblastoma multiforme(94;4.33e-07)	2	481	-		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	99					Q86TG6	Missense_Mutation	SNP	ENST00000267812.3	37	c.297G>C	CCDS10105.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190531	0.38707	.	.	ENSG00000140259	ENST00000267812	.	.	.	4.9	-0.251	0.13003	.	0.000000	0.85682	D	0.000000	T	0.59321	0.2185	L	0.41824	1.3	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.53085	-0.8488	9	0.34782	T	0.22	-22.4382	10.1342	0.42697	0.0:0.4881:0.0:0.5119	.	99	P55081	MFAP1_HUMAN	D	99	.	ENSP00000267812:E99D	E	-	3	2	MFAP1	41896721	0.947000	0.32204	0.994000	0.49952	0.948000	0.59901	0.089000	0.15002	-0.128000	0.11641	-0.880000	0.02959	GAG		PASS	0.403	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926		48	37	48	37	---	---	---	---
MFAP1	4236	broad.mit.edu	37	15	44109440	44109440	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr15:44109440C>G	ENST00000267812.3	-	2	518	c.286G>C	c.(286-288)Gat>Cat	p.D96H		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	96					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)	p.D96H(1)		breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TCTTCCACATCTTCACTAATA	0.403																																						uc001zth.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(286-288)GAT>CAT		microfibrillar-associated protein 1							144.0	140.0	141.0					15																	44109440		2198	4298	6496	SO:0001583	missense	4236					microfibril		g.chr15:44109440C>G		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.286G>C	15.37:g.44109440C>G	ENSP00000267812:p.Asp96His						p.D96H	NM_005926	NP_005917	P55081	MFAP1_HUMAN		GBM - Glioblastoma multiforme(94;4.33e-07)	2	470	-		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	96					Q86TG6	Missense_Mutation	SNP	ENST00000267812.3	37	c.286G>C	CCDS10105.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250630	0.59212	.	.	ENSG00000140259	ENST00000267812	.	.	.	4.9	3.98	0.46160	.	0.000000	0.85682	D	0.000000	T	0.77068	0.4076	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.78884	-0.2028	9	0.51188	T	0.08	-19.4629	13.489	0.61384	0.0:0.9222:0.0:0.0778	.	96	P55081	MFAP1_HUMAN	H	96	.	ENSP00000267812:D96H	D	-	1	0	MFAP1	41896732	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.432000	0.80349	1.373000	0.46208	0.655000	0.94253	GAT		PASS	0.403	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926		64	44	64	44	---	---	---	---
DUOXA2	405753	broad.mit.edu	37	15	45410045	45410045	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr15:45410045G>A	ENST00000323030.5	+	6	1186	c.901G>A	c.(901-903)Ggc>Agc	p.G301S	DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000559014.1_Intron|DUOXA1_ENST00000430224.2_Intron|DUOXA1_ENST00000267803.4_Intron	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	301					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.G301S(1)					all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		TCTTATCCTCGGCGACCCACT	0.597											OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001zuo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(901-903)GGC>AGC		dual oxidase activator 2							59.0	68.0	65.0					15																	45410045		2198	4298	6496	SO:0001583	missense	405753				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45410045G>A	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.901G>A	15.37:g.45410045G>A	ENSP00000319705:p.Gly301Ser		OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	DUOXA2_uc010beb.2_RNA|DUOXA1_uc010uem.1_Intron|DUOXA1_uc001zup.2_Intron|DUOXA1_uc010bec.2_Intron	p.G301S	NM_207581	NP_997464	Q1HG44	DOXA2_HUMAN		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)	6	1181	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	301			Cytoplasmic (Potential).		B2RPI9|H0YNQ6	Missense_Mutation	SNP	ENST00000323030.5	37	c.901G>A	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	G	7.498	0.652162	0.14580	.	.	ENSG00000140274	ENST00000323030	T	0.52983	0.64	5.26	2.9	0.33743	.	1.401930	0.04124	N	0.316773	T	0.26593	0.0650	N	0.08118	0	0.18873	N	0.999986	B	0.09022	0.002	B	0.01281	0.0	T	0.22138	-1.0225	10	0.07813	T	0.8	-3.4963	6.8843	0.24191	0.8048:0.0:0.1952:0.0	.	301	Q1HG44	DOXA2_HUMAN	S	301	ENSP00000319705:G301S	ENSP00000319705:G301S	G	+	1	0	DUOXA2	43197337	0.000000	0.05858	0.014000	0.15608	0.000000	0.00434	0.739000	0.26173	0.387000	0.25024	-0.367000	0.07326	GGC		PASS	0.597	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581		13	131	13	131	---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51839475	51839475	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr15:51839475C>T	ENST00000251076.5	-	7	985	c.698G>A	c.(697-699)cGa>cAa	p.R233Q	DMXL2_ENST00000449909.3_Missense_Mutation_p.R233Q|DMXL2_ENST00000560421.1_5'Flank|DMXL2_ENST00000543779.2_Missense_Mutation_p.R233Q	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	233						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.R233Q(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGTCACAGCTCGGGGATGTGC	0.383																																						uc002abf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)	9						c.(697-699)CGA>CAA		Dmx-like 2							103.0	102.0	102.0					15																	51839475		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51839475C>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.698G>A	15.37:g.51839475C>T	ENSP00000251076:p.Arg233Gln					DMXL2_uc010ufy.1_Missense_Mutation_p.R233Q|DMXL2_uc010bfa.2_Missense_Mutation_p.R233Q	p.R233Q	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	7	923	-			233			WD 3.		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.698G>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174104	0.78452	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.10960	2.82;2.82;2.82	5.47	4.55	0.56014	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.30166	0.0756	M	0.64080	1.96	0.24394	N	0.994734	D;P;D	0.89917	1.0;0.916;1.0	D;B;D	0.91635	0.999;0.298;0.996	T	0.06445	-1.0826	10	0.66056	D	0.02	.	14.3928	0.66991	0.0:0.9287:0.0:0.0713	.	233;233;233	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	Q	233	ENSP00000251076:R233Q;ENSP00000441858:R233Q;ENSP00000400855:R233Q	ENSP00000251076:R233Q	R	-	2	0	DMXL2	49626767	1.000000	0.71417	0.991000	0.47740	0.976000	0.68499	7.440000	0.80464	1.325000	0.45301	0.585000	0.79938	CGA		PASS	0.383	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		20	89	20	89	---	---	---	---
LEO1	123169	broad.mit.edu	37	15	52244057	52244057	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr15:52244057C>T	ENST00000299601.5	-	9	1655	c.1595G>A	c.(1594-1596)cGc>cAc	p.R532H	LEO1_ENST00000315141.5_Missense_Mutation_p.R472H	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	532					endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)		p.R532H(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		CATTTCTGTGCGTTGGCATTC	0.418																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)	uc002abo.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(1594-1596)CGC>CAC		Leo1, Paf1/RNA polymerase II complex component,							194.0	160.0	171.0					15																	52244057		2195	4293	6488	SO:0001583	missense	123169				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr15:52244057C>T	AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.1595G>A	15.37:g.52244057C>T	ENSP00000299601:p.Arg532His					LEO1_uc010bfd.2_Missense_Mutation_p.R472H	p.R532H	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN		all cancers(107;0.00264)	9	1611	-			532					Q96N99	Missense_Mutation	SNP	ENST00000299601.5	37	c.1595G>A	CCDS10146.1	.	.	.	.	.	.	.	.	.	.	.	33	5.266653	0.95399	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.63	5.63	0.86233	.	0.047340	0.85682	N	0.000000	T	0.73377	0.3579	L	0.37800	1.135	0.80722	D	1	D;B	0.76494	0.999;0.009	D;B	0.79108	0.992;0.008	T	0.74825	-0.3533	9	0.66056	D	0.02	.	19.6961	0.96026	0.0:1.0:0.0:0.0	.	472;532	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	H	532;510;472	.	ENSP00000299601:R532H	R	-	2	0	LEO1	50031349	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.629000	0.83207	2.654000	0.90174	0.650000	0.86243	CGC		PASS	0.418	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254791.2	NM_138792		97	34	97	34	---	---	---	---
TLN2	83660	broad.mit.edu	37	15	62994319	62994319	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr15:62994319G>A	ENST00000561311.1	+	17	2055	c.1825G>A	c.(1825-1827)Gag>Aag	p.E609K	TLN2_ENST00000306829.6_Missense_Mutation_p.E609K			Q9Y4G6	TLN2_HUMAN	talin 2	609					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.E609K(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GGGCAGCGGGGAGGACTTGCT	0.577																																						uc002alb.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(1825-1827)GAG>AAG		talin 2							77.0	65.0	69.0					15																	62994319		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62994319G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1825G>A	15.37:g.62994319G>A	ENSP00000453508:p.Glu609Lys						p.E609K	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			15	1825	+			609					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.1825G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453616	0.43531	.	.	ENSG00000171914	ENST00000306829	T	0.66815	-0.23	5.41	5.41	0.78517	Talin, central (3);	0.139511	0.64402	D	0.000004	T	0.61185	0.2327	L	0.39898	1.24	0.45883	D	0.998737	B	0.14438	0.01	B	0.19946	0.027	T	0.54186	-0.8331	10	0.25751	T	0.34	-35.7229	19.5608	0.95371	0.0:0.0:1.0:0.0	.	609	Q9Y4G6	TLN2_HUMAN	K	609	ENSP00000303476:E609K	ENSP00000303476:E609K	E	+	1	0	TLN2	60781611	0.999000	0.42202	0.996000	0.52242	0.993000	0.82548	3.136000	0.50554	2.698000	0.92095	0.561000	0.74099	GAG		PASS	0.577	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			4	97	4	97	---	---	---	---
CA12	771	broad.mit.edu	37	15	63632566	63632566	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr15:63632566C>A	ENST00000178638.3	-	7	1108	c.668G>T	c.(667-669)gGg>gTg	p.G223V	CA12_ENST00000344366.3_Missense_Mutation_p.G223V|CA12_ENST00000422263.2_Missense_Mutation_p.G163V	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	223					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.G223V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	GGTCAGGGACCCCCGGTAGCG	0.562																																						uc002amc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(667-669)GGG>GTG		carbonic anhydrase XII isoform 1 precursor	Acetazolamide(DB00819)						77.0	72.0	74.0					15																	63632566		2203	4300	6503	SO:0001583	missense	771				one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	g.chr15:63632566C>A	AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410		"""Carbonic anhydrases"""	1371	protein-coding gene	gene with protein product		603263				9636197	Standard	NM_001218		Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.668G>T	15.37:g.63632566C>A	ENSP00000178638:p.Gly223Val					CA12_uc002amd.2_Missense_Mutation_p.G223V|CA12_uc002ame.2_Missense_Mutation_p.G163V	p.G223V	NM_001218	NP_001209	O43570	CAH12_HUMAN			7	824	-			223			Extracellular (Potential).		B2RE24|Q53YE5|Q9BWG2	Missense_Mutation	SNP	ENST00000178638.3	37	c.668G>T	CCDS10185.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756863	0.69648	.	.	ENSG00000074410	ENST00000178638;ENST00000344366;ENST00000422263	D;D;D	0.91521	-2.86;-2.86;-2.86	5.22	5.22	0.72569	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.97882	0.9304	H	0.99863	4.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99376	1.0921	10	0.87932	D	0	.	17.5043	0.87740	0.0:1.0:0.0:0.0	.	163;223;223	B3KUB4;O43570-2;O43570	.;.;CAH12_HUMAN	V	223;223;163	ENSP00000178638:G223V;ENSP00000343088:G223V;ENSP00000403028:G163V	ENSP00000178638:G223V	G	-	2	0	CA12	61419619	1.000000	0.71417	0.734000	0.30879	0.251000	0.25915	7.252000	0.78309	2.715000	0.92844	0.655000	0.94253	GGG		PASS	0.562	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256370.1	NM_001218		77	72	77	72	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63908646	63908646	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr15:63908646C>T	ENST00000443617.2	-	75	14011	c.13924G>A	c.(13924-13926)Gag>Aag	p.E4642K		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4642	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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.E4642K(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						AAACTCTCCTCGGTAATCCCA	0.463																																						uc002amp.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(13924-13926)GAG>AAG		hect domain and RCC1-like domain 1							67.0	66.0	67.0					15																	63908646		1922	4144	6066	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63908646C>T	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.13924G>A	15.37:g.63908646C>T	ENSP00000390158:p.Glu4642Lys						p.E4642K	NM_003922	NP_003913	Q15751	HERC1_HUMAN			75	14072	-			4642			HECT.		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.13924G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	33	5.250092	0.95305	.	.	ENSG00000103657	ENST00000443617	D	0.83250	-1.7	4.8	4.8	0.61643	HECT (4);	0.000000	0.85682	D	0.000000	D	0.90834	0.7121	M	0.76433	2.335	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.91847	0.5488	10	0.66056	D	0.02	.	18.2549	0.90016	0.0:1.0:0.0:0.0	.	4642	Q15751	HERC1_HUMAN	K	4642	ENSP00000390158:E4642K	ENSP00000390158:E4642K	E	-	1	0	HERC1	61695699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.375000	0.81037	0.555000	0.69702	GAG		PASS	0.463	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		8	179	8	179	---	---	---	---
PARP16	54956	broad.mit.edu	37	15	65555514	65555514	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr15:65555514C>G	ENST00000444347.2	-	2	735	c.319G>C	c.(319-321)Gac>Cac	p.D107H	PARP16_ENST00000261888.6_Missense_Mutation_p.D222H			Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	222	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)	p.D222H(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CACTTGACGTCCGGATGGTCA	0.602																																					NSCLC(50;885 1163 13509 21242 41978)	uc002aoo.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(664-666)GAC>CAC		poly (ADP-ribose) polymerase family, member 16							93.0	69.0	77.0					15																	65555514		2201	4299	6500	SO:0001583	missense	54956					integral to membrane	NAD+ ADP-ribosyltransferase activity	g.chr15:65555514C>G	AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"""Poly (ADP-ribose) polymerases"""	26040	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 30"""	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000444347.2:c.319G>C	15.37:g.65555514C>G	ENSP00000396118:p.Asp107His					PARP16_uc002aop.2_Missense_Mutation_p.D107H|PARP16_uc002aoq.2_Missense_Mutation_p.D222H	p.D222H	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN			4	918	-			222			PARP catalytic.		Q6PK64|Q9NX03	Missense_Mutation	SNP	ENST00000444347.2	37	c.664G>C		.	.	.	.	.	.	.	.	.	.	C	27.9	4.872506	0.91587	.	.	ENSG00000138617	ENST00000261888;ENST00000444347	T;T	0.14893	2.47;2.47	5.6	5.6	0.85130	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.42017	0.1184	M	0.62209	1.925	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.988;0.975;0.993	T	0.17806	-1.0357	10	0.87932	D	0	-16.4322	18.6133	0.91294	0.0:1.0:0.0:0.0	.	222;107;222	Q8N5Y8-3;Q8N5Y8-2;Q8N5Y8	.;.;PAR16_HUMAN	H	222;107	ENSP00000261888:D222H;ENSP00000396118:D107H	ENSP00000261888:D222H	D	-	1	0	PARP16	63342567	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	7.711000	0.84669	2.636000	0.89361	0.655000	0.94253	GAC		PASS	0.602	PARP16-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000418174.1	NM_017851		27	37	27	37	---	---	---	---
SMAD3	4088	broad.mit.edu	37	15	67479716	67479716	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr15:67479716G>C	ENST00000327367.4	+	8	1333	c.1023G>C	c.(1021-1023)aaG>aaC	p.K341N	SMAD3_ENST00000540846.2_Missense_Mutation_p.K236N|SMAD3_ENST00000439724.3_Missense_Mutation_p.K297N|SMAD3_ENST00000537194.2_Missense_Mutation_p.K146N	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	341	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|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 wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K297N(1)|p.K341N(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GCAACCTGAAGATCTTCAACA	0.572																																						uc002aqj.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(1021-1023)AAG>AAC		mothers against decapentaplegic homolog 3							125.0	109.0	114.0					15																	67479716		2201	4299	6500	SO:0001583	missense	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67479716G>C	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.1023G>C	15.37:g.67479716G>C	ENSP00000332973:p.Lys341Asn					SMAD3_uc010ujr.1_Missense_Mutation_p.K236N|SMAD3_uc010ujs.1_Missense_Mutation_p.K297N|SMAD3_uc010ujt.1_Missense_Mutation_p.K146N	p.K341N	NM_005902	NP_005893	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	8	1321	+			341	K->R: No effect on acetylation. Completely abolishes acetylation and 97% reduction in transcriptional activity; when associated with R-333; R-378 and R- 409.		MH2.		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	ENST00000327367.4	37	c.1023G>C	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441524	0.83993	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724;ENST00000537194	D;D;D;D	0.98105	-4.72;-4.72;-4.72;-4.72	5.41	4.5	0.54988	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.097598	0.64402	D	0.000001	D	0.98757	0.9582	M	0.88842	2.985	0.80722	D	1	P;D	0.89917	0.954;1.0	P;D	0.81914	0.707;0.995	D	0.99663	1.0994	10	0.87932	D	0	.	14.1916	0.65641	0.072:0.0:0.928:0.0	.	297;341	B7Z4Z5;P84022	.;SMAD3_HUMAN	N	341;341;236;297;146	ENSP00000332973:K341N;ENSP00000437757:K236N;ENSP00000401133:K297N;ENSP00000445348:K146N	ENSP00000332973:K341N	K	+	3	2	SMAD3	65266770	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.741000	0.84997	1.422000	0.47177	0.561000	0.74099	AAG		PASS	0.572	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902		8	214	8	214	---	---	---	---
ADAMTS7	11173	broad.mit.edu	37	15	79059849	79059849	+	Missense_Mutation	SNP	C	C	T	rs565586720		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr15:79059849C>T	ENST00000388820.4	-	18	2941	c.2731G>A	c.(2731-2733)Gtg>Atg	p.V911M	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	911	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V911M(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCCAGCCCCACGCTGCGGATG	0.706													C|||	1	0.000199681	0.0	0.0	5008	,	,		12131	0.0		0.001	False		,,,				2504	0.0					uc002bej.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2731-2733)GTG>ATG		ADAM metallopeptidase with thrombospondin type 1							18.0	21.0	20.0					15																	79059849		2184	4283	6467	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059849C>T	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2731G>A	15.37:g.79059849C>T	ENSP00000373472:p.Val911Met					ADAMTS7_uc010und.1_Intron	p.V911M	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			18	2942	-			911			TSP type-1 3.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.2731G>A	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	C	4.917	0.170484	0.09391	.	.	ENSG00000136378	ENST00000388820	T	0.61158	0.13	4.59	1.58	0.23477	.	0.073014	0.53938	N	0.000050	T	0.33294	0.0858	N	0.25201	0.72	0.33034	D	0.530502	P	0.38473	0.633	B	0.30943	0.122	T	0.42599	-0.9442	10	0.15499	T	0.54	.	9.4567	0.38758	0.0:0.7614:0.0:0.2386	.	911	Q9UKP4	ATS7_HUMAN	M	911	ENSP00000373472:V911M	ENSP00000373472:V911M	V	-	1	0	ADAMTS7	76846904	0.989000	0.36119	0.901000	0.35422	0.223000	0.24884	2.882000	0.48546	0.035000	0.15519	-0.350000	0.07774	GTG		PASS	0.706	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	25	3	25	---	---	---	---
NTRK3	4916	broad.mit.edu	37	15	88678596	88678596	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr15:88678596C>G	ENST00000360948.2	-	9	1101	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	NTRK3_ENST00000357724.2_Missense_Mutation_p.E314Q|NTRK3_ENST00000558676.1_Missense_Mutation_p.E314Q|NTRK3_ENST00000540489.2_Missense_Mutation_p.E314Q|NTRK3_ENST00000542733.2_Missense_Mutation_p.E216Q|NTRK3_ENST00000394480.2_Missense_Mutation_p.E314Q|NTRK3_ENST00000557856.1_Missense_Mutation_p.E314Q|NTRK3_ENST00000317501.3_Missense_Mutation_p.E314Q|NTRK3_ENST00000355254.2_Missense_Mutation_p.E314Q	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	314	Ig-like C2-type 2.				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.E314Q(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)			AGGCGCAGCTCAGGCTCCTCC	0.612			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 - Missense(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.(940-942)GAG>CAG		neurotrophic tyrosine kinase, receptor, type 3							37.0	39.0	38.0					15																	88678596		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88678596C>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.940G>C	15.37:g.88678596C>G	ENSP00000354207:p.Glu314Gln	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.E314Q|NTRK3_uc002bmf.1_Missense_Mutation_p.E314Q|NTRK3_uc010upl.1_Missense_Mutation_p.E216Q|NTRK3_uc010bnh.1_Missense_Mutation_p.E314Q|NTRK3_uc002bmg.2_Missense_Mutation_p.E314Q	p.E314Q	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		9	1102	-			314			Ig-like C2-type 2.|Extracellular (Potential).		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.940G>C	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916968	0.33815	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.74002	-0.8;-0.74;-0.76;-0.8;-0.68;0.07;0.07	5.28	5.28	0.74379	.	0.221667	0.45606	D	0.000356	T	0.65196	0.2668	N	0.25647	0.755	0.37856	D	0.929549	B;B;B;B;B;B	0.16603	0.001;0.003;0.002;0.018;0.006;0.002	B;B;B;B;B;B	0.16289	0.002;0.005;0.009;0.004;0.015;0.009	T	0.63363	-0.6654	10	0.41790	T	0.15	.	17.9266	0.88985	0.0:1.0:0.0:0.0	.	216;314;314;314;314;314	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	Q	314;314;314;314;216;314;314	ENSP00000377990:E314Q;ENSP00000354207:E314Q;ENSP00000350356:E314Q;ENSP00000347397:E314Q;ENSP00000437773:E216Q;ENSP00000444673:E314Q;ENSP00000318328:E314Q	ENSP00000318328:E314Q	E	-	1	0	NTRK3	86479600	0.990000	0.36364	0.953000	0.39169	0.981000	0.71138	2.900000	0.48687	2.454000	0.82982	0.563000	0.77884	GAG		PASS	0.612	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				14	70	14	70	---	---	---	---
PCSK6	5046	broad.mit.edu	37	15	101872072	101872072	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr15:101872072C>T	ENST00000348070.1	-	15	2019	c.2020G>A	c.(2020-2022)Gag>Aag	p.E674K	PCSK6_ENST00000358417.3_Missense_Mutation_p.E674K|PCSK6_ENST00000561177.1_5'UTR|RP11-299G20.3_ENST00000558696.1_RNA	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	675					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)	p.E674K(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TAATCTTCCTCATCTTCAGGA	0.562																																						uc002bwy.2																			2	Substitution - Missense(2)		lung(2)	pancreas(2)	2						c.(2023-2025)GAG>AAG		paired basic amino acid cleaving system 4							60.0	62.0	61.0					15																	101872072		1952	4148	6100	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101872072C>T		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.2020G>A	15.37:g.101872072C>T	ENSP00000305056:p.Glu674Lys					PCSK6_uc010bpd.2_Missense_Mutation_p.E471K|PCSK6_uc010bpe.2_Missense_Mutation_p.E675K|PCSK6_uc002bxa.2_Missense_Mutation_p.E675K|PCSK6_uc002bxb.2_Missense_Mutation_p.E675K	p.E675K	NM_002570	NP_002561	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		15	2337	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		675					Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.2023G>A		.	.	.	.	.	.	.	.	.	.	C	16.29	3.082524	0.55861	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185	T;T	0.63744	-0.05;-0.06	5.82	5.82	0.92795	.	3.878950	0.00674	N	0.000657	T	0.70343	0.3213	M	0.62723	1.935	0.80722	D	1	P;P;P;P;B	0.49559	0.732;0.627;0.925;0.696;0.417	B;B;P;B;B	0.47162	0.204;0.138;0.54;0.356;0.098	T	0.62872	-0.6762	10	0.08179	T	0.78	-29.3362	17.5867	0.87983	0.0:1.0:0.0:0.0	.	675;506;675;675;674	P29122;Q59H04;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.	K	674;674;505	ENSP00000305056:E674K;ENSP00000351193:E674K	ENSP00000305056:E674K	E	-	1	0	PCSK6	99689595	0.995000	0.38212	0.223000	0.23860	0.618000	0.37518	5.485000	0.66850	2.744000	0.94065	0.650000	0.86243	GAG		PASS	0.562	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		6	86	6	86	---	---	---	---
DECR2	26063	broad.mit.edu	37	16	461361	461361	+	Splice_Site	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr16:461361G>A	ENST00000219481.5	+	8	800	c.662G>A	c.(661-663)gGt>gAt	p.G221D	DECR2_ENST00000424398.2_Splice_Site_p.G209D|DECR2_ENST00000461947.1_Intron	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	221					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)	p.G221D(1)		central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				TGCCCTCCAGGTGGCCCTCAG	0.667																																						uc002chb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(661-663)GGT>GAT		2,4-dienoyl CoA reductase 2							30.0	33.0	32.0					16																	461361		2202	4299	6501	SO:0001630	splice_region_variant	26063					peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding	g.chr16:461361G>A	AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2754	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 17C, member 1"""	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.662-1G>A	16.37:g.461361G>A						DECR2_uc002chc.2_Missense_Mutation_p.G137D|DECR2_uc010bqv.2_Missense_Mutation_p.G137D|DECR2_uc002chd.2_Missense_Mutation_p.G137D|DECR2_uc002che.1_RNA	p.G221D	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN			8	768	+		Hepatocellular(16;0.00015)	221					Q6ZRS7|Q96ET0	Missense_Mutation	SNP	ENST00000219481.5	37	c.662G>A	CCDS10409.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.877093	0.33162	.	.	ENSG00000242612	ENST00000219481;ENST00000424398	T;T	0.47177	0.85;0.85	5.19	4.21	0.49690	NAD(P)-binding domain (1);	0.146424	0.64402	D	0.000007	T	0.33147	0.0853	N	0.17872	0.535	0.80722	D	1	B	0.21225	0.053	B	0.28385	0.089	T	0.07558	-1.0766	9	.	.	.	.	12.341	0.55093	0.0:0.0:0.831:0.169	.	221	Q9NUI1	DECR2_HUMAN	D	221;209	ENSP00000219481:G221D;ENSP00000400374:G209D	.	G	+	2	0	DECR2	401362	1.000000	0.71417	0.995000	0.50966	0.520000	0.34377	2.899000	0.48679	1.141000	0.42275	0.555000	0.69702	GGT		PASS	0.667	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	NM_020664	Missense_Mutation	16	64	16	64	---	---	---	---
CAPN15	6650	broad.mit.edu	37	16	601555	601555	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr16:601555G>A	ENST00000219611.2	+	9	2599	c.2236G>A	c.(2236-2238)Ggc>Agc	p.G746S	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	746	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G746S(1)									CTCCTGGAACGGCAGCTGGTC	0.667																																						uc002chi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(2236-2238)GGC>AGC		small optic lobes							55.0	60.0	58.0					16																	601555		2201	4296	6497	SO:0001583	missense	6650				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:601555G>A	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2236G>A	16.37:g.601555G>A	ENSP00000219611:p.Gly746Ser					SOLH_uc002chj.2_5'Flank	p.G746S	NM_005632	NP_005623	O75808	CAN15_HUMAN			9	2599	+		Hepatocellular(780;0.00335)	746			Calpain catalytic.		B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	c.2236G>A	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	g	34	5.307453	0.95629	.	.	ENSG00000103326	ENST00000219611	D	0.94184	-3.37	5.26	5.26	0.73747	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.97882	0.9304	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99232	1.0882	10	0.87932	D	0	.	17.4216	0.87516	0.0:0.0:1.0:0.0	.	746	O75808	CAN15_HUMAN	S	746	ENSP00000219611:G746S	ENSP00000219611:G746S	G	+	1	0	SOLH	541556	1.000000	0.71417	0.975000	0.42487	0.544000	0.35116	9.749000	0.98871	2.463000	0.83235	0.556000	0.70494	GGC		PASS	0.667	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		19	64	19	64	---	---	---	---
IFT140	9742	broad.mit.edu	37	16	1570317	1570317	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr16:1570317C>T	ENST00000426508.2	-	28	4051	c.3688G>A	c.(3688-3690)Gac>Aac	p.D1230N	IFT140_ENST00000361339.5_Missense_Mutation_p.D424N	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1230					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.D1230N(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TTCTCCGTGTCTCCGGATTTG	0.612																																						uc002cmb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(3688-3690)GAC>AAC		intraflagellar transport 140							109.0	104.0	105.0					16																	1570317		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1570317C>T	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3688G>A	16.37:g.1570317C>T	ENSP00000406012:p.Asp1230Asn					IFT140_uc002clz.2_Missense_Mutation_p.D843N	p.D1230N	NM_014714	NP_055529	Q96RY7	IF140_HUMAN			28	4050	-		Hepatocellular(780;0.219)	1230					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.3688G>A	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439587	0.83885	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.55413	0.52;0.52	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.75451	0.3851	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73783	-0.3874	10	0.49607	T	0.09	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1230;917	Q96RY7;B4DR58	IF140_HUMAN;.	N	1230;424;1230	ENSP00000354895:D424N;ENSP00000406012:D1230N	ENSP00000354895:D424N	D	-	1	0	IFT140	1510318	1.000000	0.71417	1.000000	0.80357	0.187000	0.23431	7.748000	0.85085	2.890000	0.99128	0.650000	0.86243	GAC		PASS	0.612	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		10	158	10	158	---	---	---	---
SPSB3	90864	broad.mit.edu	37	16	1828177	1828177	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr16:1828177G>T	ENST00000566339.1	-	4	780	c.450C>A	c.(448-450)ttC>ttA	p.F150L	SPSB3_ENST00000301717.4_Missense_Mutation_p.F150L	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	150	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.F150L(1)|p.F150F(1)		endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						TGATCTCCCAGAAGTGCTGGC	0.637																																						uc002cmr.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(448-450)TTC>TTA		splA/ryanodine receptor domain and SOCS box							43.0	43.0	43.0					16																	1828177		2198	4298	6496	SO:0001583	missense	90864				intracellular signal transduction			g.chr16:1828177G>T		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"""chromosome 16 open reading frame 31"""	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.450C>A	16.37:g.1828177G>T	ENSP00000457206:p.Phe150Leu					SPSB3_uc002cms.2_Missense_Mutation_p.F22L|SPSB3_uc002cmt.2_Missense_Mutation_p.F22L|SPSB3_uc002cmu.2_Missense_Mutation_p.F150L|SPSB3_uc002cmv.2_Missense_Mutation_p.F22L|SPSB3_uc010uvm.1_3'UTR	p.F150L	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN			3	483	-			150			B30.2/SPRY.		D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Missense_Mutation	SNP	ENST00000566339.1	37	c.450C>A	CCDS32365.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414723	0.83449	.	.	ENSG00000162032	ENST00000301717;ENST00000360717	T	0.67865	-0.29	4.43	3.21	0.36854	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.77498	0.4139	M	0.76574	2.34	0.50171	D	0.999852	D	0.76494	0.999	D	0.68483	0.958	T	0.79320	-0.1852	10	0.72032	D	0.01	-2.7183	9.4645	0.38804	0.1699:0.0:0.8301:0.0	.	150	Q6PJ21	SPSB3_HUMAN	L	150;22	ENSP00000301717:F150L	ENSP00000301717:F150L	F	-	3	2	SPSB3	1768178	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.030000	0.49720	2.008000	0.58898	0.561000	0.74099	TTC		PASS	0.637	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	NM_080861		10	36	10	36	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3830746	3830746	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr16:3830746G>A	ENST00000262367.5	-	8	2619	c.1810C>T	c.(1810-1812)Cta>Tta	p.L604L	CREBBP_ENST00000382070.3_Silent_p.L566L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	604	KIX. {ECO:0000255|PROSITE- ProRule:PRU00311}.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L604L(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTATGCACTAGATGGCTCCGC	0.483			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2				Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(1810-1812)CTA>TTA		CREB binding protein isoform a							96.0	78.0	84.0					16																	3830746		2197	4300	6497	SO:0001819	synonymous_variant	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3830746G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1810C>T	16.37:g.3830746G>A						CREBBP_uc002cvw.2_Silent_p.L566L	p.L604L	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	8	2014	-		Ovarian(90;0.0266)	604			KIX.		D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.1810C>T	CCDS10509.1																																																																																				PASS	0.483	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		3	67	3	67	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3832751	3832751	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr16:3832751G>A	ENST00000262367.5	-	6	2316	c.1507C>T	c.(1507-1509)Cag>Tag	p.Q503*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q465*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	503					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Q503*(2)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCAGGAACCTGAGGCTGCAGC	0.557			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2				Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		2	Substitution - Nonsense(2)		upper_aerodigestive_tract(1)|lung(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(1507-1509)CAG>TAG		CREB binding protein isoform a							111.0	102.0	105.0					16																	3832751		2197	4300	6497	SO:0001587	stop_gained	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3832751G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1507C>T	16.37:g.3832751G>A	ENSP00000262367:p.Gln503*					CREBBP_uc002cvw.2_Nonsense_Mutation_p.Q465*	p.Q503*	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	6	1711	-		Ovarian(90;0.0266)	503					D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	ENST00000262367.5	37	c.1507C>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	47	13.100672	0.99719	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	6.03	6.03	0.97812	.	0.094509	0.47093	D	0.000260	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-6.9437	18.7471	0.91797	0.0:0.0:1.0:0.0	.	.	.	.	X	503;533;465	.	ENSP00000262367:Q503X	Q	-	1	0	CREBBP	3772752	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.187000	0.89708	2.854000	0.98071	0.655000	0.94253	CAG		PASS	0.557	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		32	68	32	68	---	---	---	---
CORO7	79585	broad.mit.edu	37	16	4414874	4414874	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr16:4414874G>C	ENST00000251166.4	-	12	1091	c.946C>G	c.(946-948)Ccc>Gcc	p.P316A	CORO7_ENST00000423908.2_Missense_Mutation_p.P148A|CORO7_ENST00000539968.1_Missense_Mutation_p.P96A|CORO7_ENST00000537233.2_Missense_Mutation_p.P298A|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.P316A|CORO7_ENST00000574025.1_Missense_Mutation_p.P231A	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	316					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)	p.P316A(1)		breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GCCTGCCGGGGCACAAGGGCA	0.657																																						uc002cwh.3																			1	Substitution - Missense(1)		lung(1)		0						c.(946-948)CCC>GCC		coronin 7							31.0	26.0	28.0					16																	4414874		2196	4294	6490	SO:0001583	missense	79585					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction		g.chr16:4414874G>C	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.946C>G	16.37:g.4414874G>C	ENSP00000251166:p.Pro316Ala					CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.P316A|CORO7_uc002cwg.3_Missense_Mutation_p.P96A|CORO7_uc010uxh.1_Missense_Mutation_p.P298A|CORO7_uc010uxi.1_Missense_Mutation_p.P231A|CORO7_uc002cwi.1_Missense_Mutation_p.P96A|CORO7_uc010uxj.1_RNA|CORO7_uc010btp.1_Missense_Mutation_p.P96A	p.P316A	NM_024535	NP_078811	P57737	CORO7_HUMAN			12	1066	-			316					B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	c.946C>G	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229215	0.79688	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968;ENST00000423908	T;T;T	0.40476	1.03;1.03;1.03	5.31	5.31	0.75309	Domain of unknown function DUF1900 (1);	0.409870	0.18791	N	0.131056	T	0.71230	0.3315	M	0.87900	2.915	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	0.91635	0.999;0.998;0.999;0.998;0.999;0.999	T	0.76302	-0.3009	10	0.87932	D	0	-29.5775	18.5726	0.91142	0.0:0.0:1.0:0.0	.	231;298;96;96;316;297	P57737-2;B4DFD6;B3KSY4;B3KUH7;P57737;B4DKU9	.;.;.;.;CORO7_HUMAN;.	A	316;231;96;148	ENSP00000251166:P316A;ENSP00000446221:P96A;ENSP00000391530:P148A	ENSP00000251166:P316A	P	-	1	0	CORO7	4354875	1.000000	0.71417	0.963000	0.40424	0.356000	0.29392	9.418000	0.97395	2.481000	0.83766	0.455000	0.32223	CCC		PASS	0.657	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		5	11	5	11	---	---	---	---
TMEM186	25880	broad.mit.edu	37	16	8889886	8889886	+	Missense_Mutation	SNP	C	C	A	rs145887653	byFrequency	TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr16:8889886C>A	ENST00000333050.6	-	2	598	c.565G>T	c.(565-567)Gtc>Ttc	p.V189F	PMM2_ENST00000539622.1_5'Flank|TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000537352.1_5'Flank|PMM2_ENST00000569958.1_5'Flank|PMM2_ENST00000566983.1_Intron|PMM2_ENST00000268261.4_5'Flank	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	189						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.V189F(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						CGCAGGGTGACGTAGAAGGTC	0.547																																						uc002cze.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(565-567)GTC>TTC		transmembrane protein 186							180.0	147.0	158.0					16																	8889886		2197	4300	6497	SO:0001583	missense	25880					integral to membrane|mitochondrion		g.chr16:8889886C>A	BC015912	CCDS10535.1	16p13.2	2008-02-05	2007-02-08	2007-02-08	ENSG00000184857	ENSG00000184857			24530	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 51"""	C16orf51		11230166	Standard	NM_015421		Approved	DKFZP564K2062	uc002cze.3	Q96B77	OTTHUMG00000129696	ENST00000333050.6:c.565G>T	16.37:g.8889886C>A	ENSP00000331640:p.Val189Phe					PMM2_uc002czf.3_5'Flank|PMM2_uc010uyf.1_5'Flank|PMM2_uc010uyg.1_5'Flank|PMM2_uc010uyh.1_5'Flank|PMM2_uc010buj.2_5'Flank|PMM2_uc010uyi.1_5'Flank|PMM2_uc010uye.1_5'Flank	p.V189F	NM_015421	NP_056236	Q96B77	TM186_HUMAN			2	599	-			189					B2RAY0|Q9Y4T4	Missense_Mutation	SNP	ENST00000333050.6	37	c.565G>T	CCDS10535.1	.	.	.	.	.	.	.	.	.	.	C	5.365	0.252536	0.10185	.	.	ENSG00000184857	ENST00000333050	T	0.51325	0.71	5.28	3.07	0.35406	.	0.514317	0.15169	N	0.276777	T	0.14614	0.0353	N	0.01874	-0.695	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25641	-1.0126	10	0.02654	T	1	-18.3094	2.927	0.05787	0.2468:0.288:0.4652:0.0	.	189	Q96B77	TM186_HUMAN	F	189	ENSP00000331640:V189F	ENSP00000331640:V189F	V	-	1	0	TMEM186	8797387	1.000000	0.71417	0.981000	0.43875	0.199000	0.23934	3.785000	0.55424	1.229000	0.43630	-0.540000	0.04249	GTC		PASS	0.547	TMEM186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251903.1	NM_015421		70	140	70	140	---	---	---	---
USP7	7874	broad.mit.edu	37	16	8996252	8996252	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr16:8996252C>T	ENST00000344836.4	-	17	2125	c.1927G>A	c.(1927-1929)Gac>Aac	p.D643N	USP7_ENST00000381886.4_Missense_Mutation_p.D627N|USP7_ENST00000535863.1_Missense_Mutation_p.D544N	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	643	Interaction with ICP0/VMW110.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D643N(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TTATTGCCGTCGGCTTCATTA	0.413																																						uc002czl.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(3)	3						c.(1927-1929)GAC>AAC		ubiquitin specific peptidase 7							90.0	79.0	83.0					16																	8996252		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8996252C>T	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1927G>A	16.37:g.8996252C>T	ENSP00000343535:p.Asp643Asn					USP7_uc010uyk.1_Missense_Mutation_p.D544N|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.D544N|USP7_uc002czk.2_Missense_Mutation_p.D627N|USP7_uc010uyl.1_RNA	p.D643N	NM_003470	NP_003461	Q93009	UBP7_HUMAN			17	2126	-			643			Interaction with ICP0/VMW110.		A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.1927G>A	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903790	0.72754	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	T;T	0.08008	3.14;3.16	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.12646	0.0307	M	0.72118	2.19	0.80722	D	1	B;B	0.29432	0.244;0.244	B;B	0.17433	0.01;0.018	T	0.07868	-1.0750	10	0.22706	T	0.39	.	19.0576	0.93072	0.0:1.0:0.0:0.0	.	643;627	Q93009;B7Z815	UBP7_HUMAN;.	N	643;651;544;544	ENSP00000343535:D643N;ENSP00000443646:D544N	ENSP00000343535:D643N	D	-	1	0	USP7	8903753	1.000000	0.71417	0.957000	0.39632	0.984000	0.73092	7.726000	0.84824	2.503000	0.84419	0.555000	0.69702	GAC		PASS	0.413	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			6	67	6	67	---	---	---	---
PALB2	79728	broad.mit.edu	37	16	23641137	23641137	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr16:23641137C>T	ENST00000261584.4	-	5	2490	c.2338G>A	c.(2338-2340)Ggc>Agc	p.G780S		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	780	Required for interaction with POLH and POLH DNA synthesis stimulation.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G780S(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GCTGGGCTGCCTGAACTGTCG	0.512			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002dlx.1			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	F|N|Mis	partner and localizer of BRCA2			"""L, O, E"""		Wilms tumor|medulloblastoma|AML ,breast			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11						c.(2338-2340)GGC>AGC	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	partner and localizer of BRCA2							148.0	107.0	121.0					16																	23641137		2197	4300	6497	SO:0001583	missense	79728	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of			double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23641137C>T		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.2338G>A	16.37:g.23641137C>T	ENSP00000261584:p.Gly780Ser						p.G780S	NM_024675	NP_078951	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	5	2538	-			780					A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.2338G>A	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	C	3.909	-0.020472	0.07634	.	.	ENSG00000083093	ENST00000261584	T	0.14144	2.53	5.68	-11.4	0.00090	.	1.327280	0.04670	N	0.410501	T	0.02767	0.0083	N	0.00436	-1.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44143	-0.9347	10	0.19147	T	0.46	3.1398	10.5887	0.45298	0.0872:0.6052:0.1881:0.1194	.	780	Q86YC2	PALB2_HUMAN	S	780	ENSP00000261584:G780S	ENSP00000261584:G780S	G	-	1	0	PALB2	23548638	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.747000	0.00794	-2.274000	0.00680	-1.708000	0.00717	GGC		PASS	0.512	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		26	59	26	59	---	---	---	---
KIF22	3835	broad.mit.edu	37	16	29810585	29810585	+	Splice_Site	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr16:29810585G>C	ENST00000160827.4	+	6	800	c.760G>C	c.(760-762)Gtg>Ctg	p.V254L	KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000561482.1_Splice_Site_p.V186L|KIF22_ENST00000400751.5_Splice_Site_p.V186L|KIF22_ENST00000569382.2_Splice_Site_p.V186L|KIF22_ENST00000563263.1_3'UTR	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	254	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)	p.V254L(1)		endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						TTACCCCCAGGTGGACCAGCG	0.602																																						uc002dts.3																			1	Substitution - Missense(1)		lung(1)		0						c.(760-762)GTG>CTG		kinesin family member 22							42.0	34.0	37.0					16																	29810585		2197	4300	6497	SO:0001630	splice_region_variant	3835				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chr16:29810585G>C	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.760-1G>C	16.37:g.29810585G>C						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Missense_Mutation_p.V186L|KIF22_uc010vdw.1_Missense_Mutation_p.V186L|KIF22_uc010bzf.2_Missense_Mutation_p.V186L	p.V254L	NM_007317	NP_015556	Q14807	KIF22_HUMAN			6	784	+			254			Kinesin-motor.		B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	ENST00000160827.4	37	c.760G>C	CCDS10653.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.288308	0.59976	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	T;T	0.73047	-0.71;-0.71	5.71	5.71	0.89125	Kinesin, motor domain (5);	.	.	.	.	T	0.67183	0.2866	L	0.35249	1.045	0.80722	D	1	P;P	0.38565	0.637;0.488	P;B	0.48368	0.575;0.306	T	0.63690	-0.6580	8	.	.	.	.	10.7333	0.46109	0.0861:0.0:0.9139:0.0	.	186;254	B7Z265;Q14807	.;KIF22_HUMAN	L	254;186	ENSP00000160827:V254L;ENSP00000383562:V186L	.	V	+	1	0	KIF22	29718086	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.544000	0.36158	2.704000	0.92352	0.655000	0.94253	GTG		PASS	0.602	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2		Missense_Mutation	11	28	11	28	---	---	---	---
FAM57B	83723	broad.mit.edu	37	16	30038040	30038040	+	Missense_Mutation	SNP	C	C	A	rs556384188		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr16:30038040C>A	ENST00000380495.4	-	3	1065	c.334G>T	c.(334-336)Gcc>Tcc	p.A112S	FAM57B_ENST00000279389.4_Missense_Mutation_p.A62S|FAM57B_ENST00000564806.1_Missense_Mutation_p.A62S	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	112	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|negative regulation of fat cell differentiation (GO:0045599)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sphingosine N-acyltransferase activity (GO:0050291)	p.A112S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GGGGCTCTGGCCGCTCCGTCG	0.612																																						uc002dvt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(334-336)GCC>TCC		hypothetical protein LOC83723							73.0	59.0	64.0					16																	30038040		2197	4300	6497	SO:0001583	missense	83723					endoplasmic reticulum|integral to membrane		g.chr16:30038040C>A	AF370365	CCDS10667.2	16p11.2	2013-02-19			ENSG00000149926	ENSG00000149926			25295	protein-coding gene	gene with protein product		615175				11230166, 23275342	Standard	NM_031478		Approved	DKFZP434I2117	uc002dvt.3	Q71RH2	OTTHUMG00000132105	ENST00000380495.4:c.334G>T	16.37:g.30038040C>A	ENSP00000369863:p.Ala112Ser					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|FAM57B_uc002dvu.2_Missense_Mutation_p.A62S	p.A112S	NM_031478	NP_113666	Q71RH2	FA57B_HUMAN			3	672	-			112			TLC.		Q9H0J1	Missense_Mutation	SNP	ENST00000380495.4	37	c.334G>T	CCDS10667.2	.	.	.	.	.	.	.	.	.	.	C	4.855	0.158978	0.09236	.	.	ENSG00000149926	ENST00000380495	.	.	.	5.83	-1.79	0.07932	TRAM/LAG1/CLN8 homology domain (3);	1.282710	0.05328	N	0.527881	T	0.30324	0.0761	L	0.38175	1.15	0.09310	N	1	B;B	0.18610	0.029;0.0	B;B	0.21917	0.037;0.006	T	0.22765	-1.0207	9	0.18276	T	0.48	-15.6425	6.6453	0.22931	0.0:0.287:0.4086:0.3044	.	112;112	F1T0F5;Q71RH2	.;FA57B_HUMAN	S	112	.	ENSP00000369863:A112S	A	-	1	0	FAM57B	29945541	0.000000	0.05858	0.001000	0.08648	0.251000	0.25915	-0.704000	0.05058	-0.285000	0.09089	0.655000	0.94253	GCC		PASS	0.612	FAM57B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255142.2	NM_031478		14	25	14	25	---	---	---	---
ZNF646	9726	broad.mit.edu	37	16	31088519	31088519	+	Missense_Mutation	SNP	C	C	T	rs182307630		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr16:31088519C>T	ENST00000394979.2	+	1	1297	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	ZNF668_ENST00000300849.4_5'Flank|ZNF646_ENST00000300850.5_Missense_Mutation_p.R292W			O15015	ZN646_HUMAN	zinc finger protein 646	292					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.R292W(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGCCCAGTATCGGCCTTACCA	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		19960	0.0		0.001	False		,,,				2504	0.0					uc002eap.2																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(874-876)CGG>TGG		zinc finger protein 646							97.0	89.0	92.0					16																	31088519		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31088519C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.874C>T	16.37:g.31088519C>T	ENSP00000378429:p.Arg292Trp						p.R292W	NM_014699	NP_055514	O15015	ZN646_HUMAN			2	1163	+			292					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.874C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.34	3.365302	0.61513	.	.	ENSG00000167395	ENST00000300850;ENST00000394979;ENST00000439353	T;T	0.31769	1.48;1.48	5.34	4.3	0.51218	.	.	.	.	.	T	0.47395	0.1443	H	0.95780	3.72	0.33797	D	0.626199	B	0.31040	0.305	B	0.23716	0.048	T	0.67848	-0.5564	9	0.54805	T	0.06	-9.1564	15.6943	0.77481	0.1463:0.8537:0.0:0.0	.	292	O15015-2	.	W	292;292;57	ENSP00000300850:R292W;ENSP00000378429:R292W	ENSP00000300850:R292W	R	+	1	2	ZNF646	30996020	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	0.691000	0.25467	2.501000	0.84356	0.655000	0.94253	CGG		PASS	0.607	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		4	67	4	67	---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49670780	49670780	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr16:49670780C>A	ENST00000561648.1	-	4	2336	c.2283G>T	c.(2281-2283)aaG>aaT	p.K761N	ZNF423_ENST00000562520.1_Missense_Mutation_p.K701N|ZNF423_ENST00000562871.1_Missense_Mutation_p.K701N|ZNF423_ENST00000563137.2_Missense_Mutation_p.K701N|ZNF423_ENST00000262383.2_Missense_Mutation_p.K761N|ZNF423_ENST00000567169.1_Missense_Mutation_p.K644N|ZNF423_ENST00000535559.1_Missense_Mutation_p.K644N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	761					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K761N(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGTCAGCCTCCTTGCGGAAGT	0.597																																						uc002efs.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(2281-2283)AAG>AAT		zinc finger protein 423							126.0	110.0	115.0					16																	49670780		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49670780C>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2283G>T	16.37:g.49670780C>A	ENSP00000455426:p.Lys761Asn					ZNF423_uc010vgn.1_Missense_Mutation_p.K644N	p.K761N	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	2581	-		all_cancers(37;0.0155)	761			C2H2-type 18.		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.2283G>T	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	4.518	0.096033	0.08681	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.08807	3.05;3.08	4.81	3.86	0.44501	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.095283	0.64402	D	0.000001	T	0.03827	0.0108	N	0.04880	-0.145	0.42544	D	0.993084	B	0.06786	0.001	B	0.09377	0.004	T	0.43718	-0.9374	9	.	.	.	.	9.1842	0.37160	0.0:0.835:0.0:0.165	.	761	Q2M1K9	ZN423_HUMAN	N	761;644	ENSP00000262383:K761N;ENSP00000442321:K644N	.	K	-	3	2	ZNF423	48228281	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.376000	0.34306	1.036000	0.39998	0.561000	0.74099	AAG		PASS	0.597	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		41	41	41	41	---	---	---	---
HEATR3	55027	broad.mit.edu	37	16	50112783	50112783	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr16:50112783G>C	ENST00000299192.7	+	7	1086	c.895G>C	c.(895-897)Gaa>Caa	p.E299Q	HEATR3_ENST00000285767.4_Missense_Mutation_p.E213Q	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	299								p.E299Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAAAGAGGCTGAAACGCAAAG	0.368																																						uc002efw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(895-897)GAA>CAA		HEAT repeat containing 3							88.0	90.0	89.0					16																	50112783		2198	4300	6498	SO:0001583	missense	55027						binding	g.chr16:50112783G>C	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.895G>C	16.37:g.50112783G>C	ENSP00000299192:p.Glu299Gln					HEATR3_uc002efx.2_Missense_Mutation_p.E213Q	p.E299Q	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN			7	1057	+			299					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	c.895G>C	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210843	0.58343	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.33438	1.41;1.41	5.62	5.62	0.85841	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53449	0.1797	M	0.68317	2.08	0.51012	D	0.999902	D;D	0.71674	0.998;0.998	D;P	0.67725	0.953;0.863	T	0.33803	-0.9854	10	0.22109	T	0.4	.	20.022	0.97508	0.0:0.0:1.0:0.0	.	213;299	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	Q	213;299	ENSP00000285767:E213Q;ENSP00000299192:E299Q	ENSP00000285767:E213Q	E	+	1	0	HEATR3	48670284	1.000000	0.71417	0.948000	0.38648	0.378000	0.30076	7.458000	0.80787	2.806000	0.96561	0.551000	0.68910	GAA		PASS	0.368	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922		20	72	20	72	---	---	---	---
TOX3	27324	broad.mit.edu	37	16	52473751	52473751	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr16:52473751G>C	ENST00000219746.9	-	7	1401	c.1117C>G	c.(1117-1119)Cag>Gag	p.Q373E	TOX3_ENST00000407228.3_Missense_Mutation_p.Q368E	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	373					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)	p.Q373E(1)|p.Q368E(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TGGAGAGTCTGAGGTGATGCT	0.512																																						uc002egw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1117-1119)CAG>GAG		TOX high mobility group box family member 3							267.0	268.0	268.0					16																	52473751		2128	4248	6376	SO:0001583	missense	27324				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	g.chr16:52473751G>C	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.1117C>G	16.37:g.52473751G>C	ENSP00000219746:p.Gln373Glu					TOX3_uc010vgt.1_Missense_Mutation_p.Q368E|TOX3_uc010vgu.1_Missense_Mutation_p.Q373E	p.Q373E	NM_001080430	NP_001073899	O15405	TOX3_HUMAN			7	1288	-			373					B4DRD0|B5MCW4	Missense_Mutation	SNP	ENST00000219746.9	37	c.1117C>G	CCDS54009.1	.	.	.	.	.	.	.	.	.	.	G	9.277	1.047162	0.19827	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.10573	2.89;2.86	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.09862	0.0242	L	0.27053	0.805	0.58432	D	0.999999	B;B	0.27791	0.189;0.189	B;B	0.29785	0.107;0.107	T	0.15896	-1.0421	10	0.07990	T	0.79	.	19.9449	0.97179	0.0:0.0:1.0:0.0	.	368;373	B4DRD0;O15405	.;TOX3_HUMAN	E	373;368	ENSP00000219746:Q373E;ENSP00000385705:Q368E	ENSP00000219746:Q373E	Q	-	1	0	TOX3	51031252	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.230000	0.95299	2.696000	0.92011	0.655000	0.94253	CAG		PASS	0.512	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		101	204	101	204	---	---	---	---
CBFB	865	broad.mit.edu	37	16	67116119	67116119	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr16:67116119G>T	ENST00000290858.6	+	5	664	c.403G>T	c.(403-405)Gag>Tag	p.E135*	CBFB_ENST00000412916.2_Nonsense_Mutation_p.E135*|CBFB_ENST00000561924.2_Nonsense_Mutation_p.E35*	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	135					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.E135*(1)		breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		CTGACAGCAGGAGGATGCATT	0.373			T	MYH11	AML																																	uc002era.2				Dom	yes		16	16q22	865	T	"""core-binding factor, beta subunit"""			L	MYH11		AML		1	Substitution - Nonsense(1)		lung(1)	breast(2)	2						c.(403-405)GAG>TAG		core-binding factor, beta subunit isoform 2							61.0	56.0	57.0					16																	67116119		2200	4300	6500	SO:0001587	stop_gained	865				transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr16:67116119G>T	BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.403G>T	16.37:g.67116119G>T	ENSP00000290858:p.Glu135*					CBFB_uc002erb.2_Nonsense_Mutation_p.E135*|CBFB_uc010vja.1_Intron	p.E135*	NM_001755	NP_001746	Q13951	PEBB_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)	5	664	+		Ovarian(137;0.0563)	135					A8K347|Q13124|Q9HCT2	Nonsense_Mutation	SNP	ENST00000290858.6	37	c.403G>T	CCDS10827.1	.	.	.	.	.	.	.	.	.	.	G	37	6.578290	0.97680	.	.	ENSG00000067955	ENST00000290858;ENST00000412916	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.5541	17.9991	0.89193	0.0:0.0:1.0:0.0	.	.	.	.	X	135	.	ENSP00000290858:E135X	E	+	1	0	CBFB	65673620	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.613000	0.90913	2.599000	0.87857	0.573000	0.79308	GAG		PASS	0.373	CBFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268843.2	NM_001755		15	31	15	31	---	---	---	---
CBFB	865	broad.mit.edu	37	16	67116183	67116183	+	Missense_Mutation	SNP	G	G	C	rs367668600		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr16:67116183G>C	ENST00000290858.6	+	5	728	c.467G>C	c.(466-468)aGa>aCa	p.R156T	CBFB_ENST00000412916.2_Missense_Mutation_p.R156T|CBFB_ENST00000561924.2_Missense_Mutation_p.R56T	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	156					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.R156T(1)		breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		TTTGAAGATAGAGACAGGTCT	0.458			T	MYH11	AML																																	uc002era.2				Dom	yes		16	16q22	865	T	"""core-binding factor, beta subunit"""			L	MYH11		AML		1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(466-468)AGA>ACA		core-binding factor, beta subunit isoform 2							114.0	107.0	109.0					16																	67116183		2200	4300	6500	SO:0001583	missense	865				transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr16:67116183G>C	BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.467G>C	16.37:g.67116183G>C	ENSP00000290858:p.Arg156Thr					CBFB_uc002erb.2_Missense_Mutation_p.R156T|CBFB_uc010vja.1_Intron	p.R156T	NM_001755	NP_001746	Q13951	PEBB_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)	5	728	+		Ovarian(137;0.0563)	156					A8K347|Q13124|Q9HCT2	Missense_Mutation	SNP	ENST00000290858.6	37	c.467G>C	CCDS10827.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679109	0.47886	.	.	ENSG00000067955	ENST00000290858;ENST00000412916	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.74366	0.3707	L	0.47716	1.5	0.80722	D	1	D;D	0.62365	0.981;0.991	D;D	0.78314	0.962;0.991	T	0.72717	-0.4209	9	0.42905	T	0.14	-0.8222	18.0399	0.89316	0.0:0.0:1.0:0.0	.	156;156	Q13951-2;Q13951	.;PEBB_HUMAN	T	156	.	ENSP00000290858:R156T	R	+	2	0	CBFB	65673684	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.622000	0.90953	2.608000	0.88229	0.585000	0.79938	AGA		PASS	0.458	CBFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268843.2	NM_001755		23	73	23	73	---	---	---	---
VAC14	55697	broad.mit.edu	37	16	70820221	70820221	+	Missense_Mutation	SNP	T	T	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr16:70820221T>A	ENST00000261776.5	-	2	412	c.152A>T	c.(151-153)cAt>cTt	p.H51L		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	51					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)	p.H51L(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CTGGATCACATGCTTGATTTG	0.632																																						uc002ezm.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(151-153)CAT>CTT		Vac14 homolog							108.0	106.0	106.0					16																	70820221		2198	4300	6498	SO:0001583	missense	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70820221T>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.152A>T	16.37:g.70820221T>A	ENSP00000261776:p.His51Leu					VAC14_uc010cfw.2_Intron|VAC14_uc002ezn.2_5'UTR	p.H51L	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN			2	410	-		Ovarian(137;0.0699)	51					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	c.152A>T	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.675465	0.67928	.	.	ENSG00000103043	ENST00000261776	T	0.64438	-0.1	5.49	5.49	0.81192	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49423	0.1556	N	0.20530	0.585	0.80722	D	1	B	0.22276	0.067	B	0.22601	0.04	T	0.45116	-0.9283	10	0.42905	T	0.14	-12.8234	15.5895	0.76517	0.0:0.0:0.0:1.0	.	51	Q08AM6	VAC14_HUMAN	L	51	ENSP00000261776:H51L	ENSP00000261776:H51L	H	-	2	0	VAC14	69377722	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.986000	0.88173	2.085000	0.62840	0.528000	0.53228	CAT		PASS	0.632	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		39	81	39	81	---	---	---	---
C16orf46	123775	broad.mit.edu	37	16	81094912	81094912	+	Missense_Mutation	SNP	C	C	A	rs575984281		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr16:81094912C>A	ENST00000299578.5	-	4	1277	c.1042G>T	c.(1042-1044)Gtg>Ttg	p.V348L	RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000378611.4_Missense_Mutation_p.V348L|C16orf46_ENST00000444657.3_5'Flank	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	348						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V348L(2)		NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CGGGTGATCACAGGAGATCTT	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		19103	0.0		0.0	False		,,,				2504	0.001					uc002fgc.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1042-1044)GTG>TTG		chromosome 16 open reading frame 46 isoform 2							156.0	150.0	152.0					16																	81094912		2202	4300	6502	SO:0001583	missense	123775							g.chr16:81094912C>A	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.1042G>T	16.37:g.81094912C>A	ENSP00000299578:p.Val348Leu					C16orf46_uc010chf.2_Missense_Mutation_p.V348L|C16orf46_uc010vno.1_Missense_Mutation_p.V75L	p.V348L	NM_152337	NP_689550	Q6P387	CP046_HUMAN			4	1301	-			348					Q96MA7	Missense_Mutation	SNP	ENST00000299578.5	37	c.1042G>T	CCDS10932.1	.	.	.	.	.	.	.	.	.	.	C	5.845	0.340106	0.11069	.	.	ENSG00000166455	ENST00000378611;ENST00000444657;ENST00000299578	T;T	0.13901	2.55;2.55	4.93	-9.87	0.00470	.	1.923270	0.02564	N	0.097057	T	0.09555	0.0235	L	0.43152	1.355	0.09310	N	1	B;B	0.20780	0.048;0.007	B;B	0.16289	0.015;0.005	T	0.16012	-1.0417	10	0.12430	T	0.62	.	9.327	0.37999	0.1125:0.1685:0.0:0.719	.	348;348	Q6P387-2;Q6P387	.;CP046_HUMAN	L	348;75;348	ENSP00000367874:V348L;ENSP00000299578:V348L	ENSP00000299578:V348L	V	-	1	0	C16orf46	79652413	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.537000	0.06128	-1.788000	0.01266	-0.251000	0.11542	GTG		PASS	0.522	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		80	140	80	140	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81204638	81204638	+	RNA	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr16:81204638G>C	ENST00000527937.1	-	0	4165				PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.T940T(2)|p.T255T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCTCCAAGCCGGTGGTGACTG	0.592																																						uc002fgh.1																			3	Substitution - coding silent(3)		lung(3)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2818-2820)ACC>ACG		polycystin 1-like 2 isoform a							33.0	34.0	34.0					16																	81204638		2144	4267	6411			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81204638G>C	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81204638G>C						PKD1L2_uc002fgg.1_RNA|PKD1L2_uc002fgi.2_Silent_p.T255T|PKD1L2_uc002fgj.2_Silent_p.T940T	p.T940T	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			17	2820	-			940			REJ.|Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000527937.1	37	c.2820C>G		.	.	.	.	.	.	.	.	.	.	G	2.435	-0.330027	0.05314	.	.	ENSG00000166473	ENST00000526632	.	.	.	4.0	1.05	0.20165	.	.	.	.	.	T	0.24084	0.0583	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22836	-1.0205	4	.	.	.	-4.0812	4.1801	0.10370	0.1559:0.0:0.4974:0.3468	.	.	.	.	G	468	.	.	R	-	1	2	PKD1L2	79762139	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.336000	0.19823	0.210000	0.20664	0.549000	0.68633	CGG		PASS	0.592	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene	OTTHUMT00000387978.1			28	28	28	28	---	---	---	---
SLC38A8	146167	broad.mit.edu	37	16	84063148	84063148	+	Missense_Mutation	SNP	G	G	C	rs368496002		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr16:84063148G>C	ENST00000299709.3	-	5	640	c.641C>G	c.(640-642)tCc>tGc	p.S214C		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	214					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.S214C(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGAGGTCCAGGAGGCAGGGCT	0.502																																						uc002fhg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(640-642)TCC>TGC		solute carrier family 38, member 8							90.0	88.0	89.0					16																	84063148		2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84063148G>C		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.641C>G	16.37:g.84063148G>C	ENSP00000299709:p.Ser214Cys						p.S214C	NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN			5	641	-			214						Missense_Mutation	SNP	ENST00000299709.3	37	c.641C>G	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.519893	0.64634	.	.	ENSG00000166558	ENST00000299709	T	0.02631	4.22	4.97	4.97	0.65823	.	0.063358	0.64402	D	0.000002	T	0.10680	0.0261	M	0.73319	2.225	0.58432	D	0.999998	P	0.49862	0.929	P	0.52031	0.688	T	0.00605	-1.1648	10	0.72032	D	0.01	.	18.2257	0.89916	0.0:0.0:1.0:0.0	.	214	A6NNN8	S38A8_HUMAN	C	214	ENSP00000299709:S214C	ENSP00000299709:S214C	S	-	2	0	SLC38A8	82620649	1.000000	0.71417	0.993000	0.49108	0.878000	0.50629	6.843000	0.75384	2.480000	0.83734	0.643000	0.83706	TCC		PASS	0.502	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		11	54	11	54	---	---	---	---
ABR	29	broad.mit.edu	37	17	1028614	1028614	+	Silent	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr17:1028614G>T	ENST00000302538.5	-	2	296	c.150C>A	c.(148-150)atC>atA	p.I50I	ABR_ENST00000544583.2_Silent_p.I4I|ABR_ENST00000574437.1_Silent_p.I4I	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	50					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I50I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GCGACTCATCGATGTACGGCA	0.667																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	uc002fsd.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(148-150)ATC>ATA		active breakpoint cluster region-related							118.0	108.0	111.0					17																	1028614		2203	4300	6503	SO:0001819	synonymous_variant	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:1028614G>T	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.150C>A	17.37:g.1028614G>T						ABR_uc002fse.2_Silent_p.I4I|ABR_uc010cjq.1_Silent_p.I62I	p.I50I	NM_021962	NP_068781	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	2	260	-			50					B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Silent	SNP	ENST00000302538.5	37	c.150C>A	CCDS10999.1																																																																																				PASS	0.667	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			3	114	3	114	---	---	---	---
USP6	9098	broad.mit.edu	37	17	5073990	5073990	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr17:5073990G>A	ENST00000574788.1	+	36	5964	c.3734G>A	c.(3733-3735)cGa>cAa	p.R1245Q	USP6_ENST00000250066.6_Missense_Mutation_p.R1245Q|USP6_ENST00000304328.5_Missense_Mutation_p.R928Q|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1245	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)	p.R1245Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GCCTTGAGCCGAGGGCATATG	0.537			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	uc002gau.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts		1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						c.(3733-3735)CGA>CAA		ubiquitin specific protease 6							43.0	38.0	40.0					17																	5073990		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5073990G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.3734G>A	17.37:g.5073990G>A	ENSP00000460380:p.Arg1245Gln					USP6_uc002gav.1_Missense_Mutation_p.R1245Q|USP6_uc010ckz.1_Missense_Mutation_p.R928Q	p.R1245Q	NM_004505	NP_004496	P35125	UBP6_HUMAN			36	5964	+			1245					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.3734G>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	8.771	0.925910	0.18056	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.13657	2.98;2.57	2.35	2.35	0.29111	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.475816	0.24226	N	0.040388	T	0.06917	0.0176	N	0.22421	0.69	0.27887	N	0.939467	B;B	0.32573	0.055;0.376	B;B	0.25405	0.011;0.06	T	0.26573	-1.0099	10	0.25106	T	0.35	.	7.0774	0.25211	0.0:0.2849:0.7151:0.0	.	928;1245	P35125-2;P35125	.;UBP6_HUMAN	Q	1245;928	ENSP00000250066:R1245Q;ENSP00000305473:R928Q	ENSP00000250066:R1245Q	R	+	2	0	USP6	5014714	0.575000	0.26692	0.994000	0.49952	0.399000	0.30720	0.622000	0.24433	1.313000	0.45069	0.184000	0.17185	CGA		PASS	0.537	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		22	27	22	27	---	---	---	---
NLGN2	57555	broad.mit.edu	37	17	7319158	7319158	+	Missense_Mutation	SNP	A	A	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr17:7319158A>G	ENST00000302926.2	+	6	1439	c.1366A>G	c.(1366-1368)Act>Gct	p.T456A	NLGN2_ENST00000575301.1_Missense_Mutation_p.T456A	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	456					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|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)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)	p.T456A(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GGCGCTCTTTACTGACCACCA	0.577																																						uc002ggt.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1366-1368)ACT>GCT		neuroligin 2 precursor							59.0	57.0	58.0					17																	7319158		2203	4300	6503	SO:0001583	missense	57555				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	g.chr17:7319158A>G	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.1366A>G	17.37:g.7319158A>G	ENSP00000305288:p.Thr456Ala						p.T456A	NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN			6	1439	+		Prostate(122;0.157)	456			Extracellular (Potential).		Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	37	c.1366A>G	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	A	19.39	3.818702	0.71028	.	.	ENSG00000169992	ENST00000302926	T	0.60040	0.22	5.55	5.55	0.83447	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	M	0.71581	2.175	0.80722	D	1	P	0.44816	0.844	B	0.41946	0.371	T	0.55879	-0.8071	10	0.16896	T	0.51	.	13.6954	0.62575	1.0:0.0:0.0:0.0	.	456	Q8NFZ4	NLGN2_HUMAN	A	456	ENSP00000305288:T456A	ENSP00000305288:T456A	T	+	1	0	NLGN2	7259882	1.000000	0.71417	0.623000	0.29173	0.723000	0.41478	9.128000	0.94424	2.333000	0.79357	0.533000	0.62120	ACT		PASS	0.577	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		58	12	58	12	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	A	rs193920774		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr17:7577141C>A	ENST00000269305.4	-	8	986	c.797G>T	c.(796-798)gGa>gTa	p.G266V	TP53_ENST00000420246.2_Missense_Mutation_p.G266V|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.G266V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.G266V|TP53_ENST00000359597.4_Missense_Mutation_p.G266V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCTGTTCCGTCCCAGTAGATT	0.517		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		121	Substitution - Missense(95)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	p.G266E(45)|p.G266R(42)|p.G266V(32)|p.G266*(12)|p.0?(7)|p.G266fs*79(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266G(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(23)|oesophagus(10)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(9)|breast(9)|upper_aerodigestive_tract(8)|ovary(8)|urinary_tract(7)|pancreas(6)|skin(5)|central_nervous_system(4)|stomach(4)|bone(4)|liver(4)|endometrium(3)|vulva(1)|kidney(1)|thyroid(1)|cervix(1)|eye(1)|genital_tract(1)|biliary_tract(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(796-798)GGA>GTA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	44.0	46.0					17																	7577141		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577141C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.797G>T	17.37:g.7577141C>A	ENSP00000269305:p.Gly266Val	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.G266V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G134V|TP53_uc010cng.1_Missense_Mutation_p.G134V|TP53_uc002gii.1_Missense_Mutation_p.G134V|TP53_uc010cnh.1_Missense_Mutation_p.G266V|TP53_uc010cni.1_Missense_Mutation_p.G266V|TP53_uc002gij.2_Missense_Mutation_p.G266V	p.G266V	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	991	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	266		G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> A (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.797G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388215	0.82902	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	266;266;266;266;266;255;134	ENSP00000352610:G266V;ENSP00000269305:G266V;ENSP00000398846:G266V;ENSP00000391127:G266V;ENSP00000391478:G266V;ENSP00000425104:G134V	ENSP00000269305:G266V	G	-	2	0	TP53	7517866	1.000000	0.71417	0.996000	0.52242	0.744000	0.42396	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		PASS	0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	7	18	7	---	---	---	---
WRAP53	55135	broad.mit.edu	37	17	7592030	7592030	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr17:7592030C>G	ENST00000316024.5	+	1	2412	c.64C>G	c.(64-66)Cca>Gca	p.P22A	TP53_ENST00000420246.2_5'Flank|TP53_ENST00000455263.2_5'Flank|WRAP53_ENST00000457584.2_Missense_Mutation_p.P22A|WRAP53_ENST00000396463.2_Missense_Mutation_p.P22A|TP53_ENST00000445888.2_5'Flank|WRAP53_ENST00000534050.1_Missense_Mutation_p.P22A|WRAP53_ENST00000431639.2_Missense_Mutation_p.P22A|TP53_ENST00000269305.4_5'Flank|RP11-199F11.2_ENST00000571370.1_RNA			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	22	Pro-rich.				positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)	p.P22A(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GGACCCAGCTCCAGCCCATCC	0.587																																						uc010vuh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(64-66)CCA>GCA		WD repeat domain 79 isoform 2							65.0	71.0	69.0					17																	7592030		2203	4300	6503	SO:0001583	missense	55135				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding	g.chr17:7592030C>G	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"""WD repeat domain containing"""	25522	protein-coding gene	gene with protein product	"""telomerase cajal body protein 1"", ""WD-encoding RNA antisense to p53"""	612661	"""WD repeat domain 79"""	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.64C>G	17.37:g.7592030C>G	ENSP00000324203:p.Pro22Ala					WRAP53_uc010vui.1_Missense_Mutation_p.P22A|WRAP53_uc002gip.2_Missense_Mutation_p.P22A|WRAP53_uc002gir.2_Missense_Mutation_p.P22A|WRAP53_uc002giq.2_RNA|WRAP53_uc010cnl.2_Missense_Mutation_p.P22A|TP53_uc010cnh.1_5'Flank|TP53_uc010cni.1_5'Flank|TP53_uc002gim.2_5'Flank|TP53_uc002gij.2_5'Flank|TP53_uc002gin.2_5'Flank|TP53_uc002gio.2_5'Flank|TP53_uc010vug.1_5'Flank|TP53_uc010cnk.1_5'Flank	p.P22A	NM_001143990	NP_001137462	Q9BUR4	WAP53_HUMAN			2	219	+			22			Pro-rich.		B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Missense_Mutation	SNP	ENST00000316024.5	37	c.64C>G	CCDS11119.1	.	.	.	.	.	.	.	.	.	.	C	4.602	0.111940	0.08831	.	.	ENSG00000141499	ENST00000431639;ENST00000316024;ENST00000457584;ENST00000396463;ENST00000534050;ENST00000451908	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.73	4.85	-4.17	0.03857	.	0.653968	0.13583	N	0.377193	T	0.22704	0.0548	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15350	-1.0440	10	0.23302	T	0.38	1.8152	7.2826	0.26320	0.0:0.2681:0.4969:0.235	.	22;22	E9PMG4;Q9BUR4	.;WAP53_HUMAN	A	22	ENSP00000397219:P22A;ENSP00000324203:P22A;ENSP00000411061:P22A;ENSP00000379727:P22A;ENSP00000434999:P22A	ENSP00000324203:P22A	P	+	1	0	WRAP53	7532755	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.024000	0.01436	-0.788000	0.04504	-0.257000	0.10917	CCA		PASS	0.587	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259385.2	NM_018081		4	76	4	76	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10432298	10432298	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr17:10432298C>A	ENST00000245503.5	-	27	3837	c.3453G>T	c.(3451-3453)gaG>gaT	p.E1151D	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1151D	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1151					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.E1151D(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						TCTCGCTGATCTCCTCCAGCT	0.622																																						uc010coi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(3451-3453)GAG>GAT		myosin heavy chain IIa							68.0	78.0	75.0					17																	10432298		2202	4298	6500	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.chr17:10432298C>A		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.3453G>T	17.37:g.10432298C>A	ENSP00000245503:p.Glu1151Asp					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E1151D|MYH2_uc010coj.2_Intron	p.E1151D	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			27	3581	-			1151			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3453G>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131980	0.77662	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83335	-1.71;-1.71	5.09	5.09	0.68999	Myosin tail (1);	0.000000	0.39687	U	0.001290	D	0.88112	0.6349	L	0.52364	1.645	0.49687	D	0.999817	D	0.55172	0.97	D	0.64595	0.927	D	0.86075	0.1540	10	0.33940	T	0.23	.	18.6832	0.91554	0.0:1.0:0.0:0.0	.	1151	Q9UKX2	MYH2_HUMAN	D	1151	ENSP00000245503:E1151D;ENSP00000380367:E1151D	ENSP00000245503:E1151D	E	-	3	2	MYH2	10373023	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.497000	0.60367	2.660000	0.90430	0.591000	0.81541	GAG		PASS	0.622	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		96	18	96	18	---	---	---	---
ADPRM	56985	broad.mit.edu	37	17	10608831	10608831	+	Silent	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr17:10608831G>C	ENST00000379774.4	+	2	679	c.588G>C	c.(586-588)ctG>ctC	p.L196L	ADPRM_ENST00000609540.1_Silent_p.L196L	NM_020233.4	NP_064618.3	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	196							ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872)	p.L196L(1)|p.N197fs*1(1)									ATACGGAACTGAATAGTCCTC	0.383																																						uc002gmt.2																			2	Deletion - Frameshift(1)|Substitution - coding silent(1)		lung(1)|kidney(1)		0						c.(586-588)CTG>CTC		ADP-ribose/CDP-alcohol pyrophosphatase							79.0	78.0	78.0					17																	10608831		2203	4300	6503	SO:0001819	synonymous_variant	56985						ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding	g.chr17:10608831G>C	BC070155	CCDS11159.2	17p13.1	2012-07-20	2012-07-20	2012-07-20	ENSG00000170222	ENSG00000170222	3.6.1.13, 3.6.1.16, 3.6.1.53		30925	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 48"""	C17orf48		18352857	Standard	XM_005256738		Approved	MDS006	uc002gmt.3	Q3LIE5	OTTHUMG00000130366	ENST00000379774.4:c.588G>C	17.37:g.10608831G>C						C17orf48_uc002gmu.2_RNA|C17orf48_uc002gmv.2_RNA|C17orf48_uc010vvg.1_Silent_p.L196L	p.L196L	NM_020233	NP_064618	Q3LIE5	ADPRM_HUMAN			2	663	+			196					A8K9B4|D3DTS4|Q9BVD4|Q9NRU8	Silent	SNP	ENST00000379774.4	37	c.588G>C	CCDS11159.2																																																																																				PASS	0.383	ADPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252732.2	NM_020233		5	121	5	121	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11550450	11550450	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr17:11550450C>G	ENST00000262442.4	+	12	2100	c.2032C>G	c.(2032-2034)Ctt>Gtt	p.L678V	DNAH9_ENST00000454412.2_Missense_Mutation_p.L678V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	678	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L678V(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACAGTACAATCTTTCCCAACC	0.483																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(2032-2034)CTT>GTT		dynein, axonemal, heavy chain 9 isoform 2							180.0	161.0	167.0					17																	11550450		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11550450C>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2032C>G	17.37:g.11550450C>G	ENSP00000262442:p.Leu678Val						p.L678V	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	12	2100	+		Breast(5;0.0122)|all_epithelial(5;0.131)	678			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.2032C>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502247	0.85176	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.62941	-0.01;-0.01	5.24	5.24	0.73138	Dynein heavy chain, domain-1 (1);	0.083349	0.50627	D	0.000103	D	0.83211	0.5205	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86322	0.1693	10	0.87932	D	0	.	19.1769	0.93605	0.0:1.0:0.0:0.0	.	678	Q9NYC9	DYH9_HUMAN	V	678	ENSP00000262442:L678V;ENSP00000414874:L678V	ENSP00000262442:L678V	L	+	1	0	DNAH9	11491175	1.000000	0.71417	0.916000	0.36221	0.957000	0.61999	6.781000	0.75068	2.609000	0.88269	0.655000	0.94253	CTT		PASS	0.483	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		10	167	10	167	---	---	---	---
ULK2	9706	broad.mit.edu	37	17	19770651	19770651	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr17:19770651C>A	ENST00000395544.4	-	1	579	c.80G>T	c.(79-81)cGg>cTg	p.R27L	ULK2_ENST00000361658.2_Missense_Mutation_p.R27L	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	27	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R27L(1)		large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CTGGCGGTGCCGCCCCCGGAA	0.741																																						uc002gwm.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|stomach(1)	4						c.(79-81)CGG>CTG		unc-51-like kinase 2							12.0	12.0	12.0					17																	19770651		2182	4282	6464	SO:0001583	missense	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19770651C>A	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.80G>T	17.37:g.19770651C>A	ENSP00000378914:p.Arg27Leu					ULK2_uc002gwn.2_Missense_Mutation_p.R27L	p.R27L	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN			1	589	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		27			Protein kinase.		A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	37	c.80G>T	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	C	35	5.574745	0.96553	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.25414	1.8;1.8	4.57	4.57	0.56435	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.32376	0.0827	L	0.41356	1.27	0.58432	D	0.999998	P	0.40578	0.722	P	0.47075	0.536	T	0.15549	-1.0433	10	0.87932	D	0	-11.9848	16.3997	0.83635	0.0:1.0:0.0:0.0	.	27	Q8IYT8	ULK2_HUMAN	L	27	ENSP00000354877:R27L;ENSP00000378914:R27L	ENSP00000354877:R27L	R	-	2	0	ULK2	19711243	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.521000	0.73778	2.084000	0.62774	0.579000	0.79373	CGG		PASS	0.741	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		10	2	10	2	---	---	---	---
SDF2	6388	broad.mit.edu	37	17	26976155	26976155	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr17:26976155C>A	ENST00000247020.4	-	3	786	c.488G>T	c.(487-489)gGa>gTa	p.G163V	SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	163	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				protein glycosylation (GO:0006486)|protein O-linked mannosylation (GO:0035269)	extracellular space (GO:0005615)|membrane (GO:0016020)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)	p.G163V(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					ATATTGTTCTCCTGTGACAGA	0.512																																						uc002hbw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(487-489)GGA>GTA		stromal cell-derived factor 2 precursor							204.0	170.0	182.0					17																	26976155		2203	4300	6503	SO:0001583	missense	6388				protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity	g.chr17:26976155C>A	BC001406	CCDS11238.1	17q11.2	2004-02-16			ENSG00000132581	ENSG00000132581			10675	protein-coding gene	gene with protein product		602934				8918255	Standard	NR_045585		Approved		uc002hbw.3	Q99470	OTTHUMG00000132681	ENST00000247020.4:c.488G>T	17.37:g.26976155C>A	ENSP00000247020:p.Gly163Val					SDF2_uc002hbx.2_RNA	p.G163V	NM_006923	NP_008854	Q99470	SDF2_HUMAN			3	527	-	Lung NSC(42;0.00431)		163			MIR 3.		Q9BQ79	Missense_Mutation	SNP	ENST00000247020.4	37	c.488G>T	CCDS11238.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983449	0.93044	.	.	ENSG00000132581	ENST00000247020	D	0.86432	-2.12	5.64	5.64	0.86602	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	D	0.96059	0.8716	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96625	0.9462	10	0.72032	D	0.01	-14.7308	20.1418	0.98058	0.0:1.0:0.0:0.0	.	163	Q99470	SDF2_HUMAN	V	163	ENSP00000247020:G163V	ENSP00000247020:G163V	G	-	2	0	SDF2	24000282	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.435000	0.80391	2.831000	0.97527	0.644000	0.83932	GGA		PASS	0.512	SDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255965.2	NM_006923		14	116	14	116	---	---	---	---
RAB34	83871	broad.mit.edu	37	17	27042849	27042849	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr17:27042849C>G	ENST00000395245.3	-	4	909	c.283G>C	c.(283-285)Gag>Cag	p.E95Q	RAB34_ENST00000436730.3_Missense_Mutation_p.E95Q|RAB34_ENST00000301043.6_Missense_Mutation_p.E95Q|RAB34_ENST00000415040.2_Missense_Mutation_p.E73Q|RAB34_ENST00000395242.2_Missense_Mutation_p.E96Q|RAB34_ENST00000395243.3_Missense_Mutation_p.E95Q|RAB34_ENST00000450529.1_Missense_Mutation_p.E95Q|RAB34_ENST00000447716.1_Missense_Mutation_p.E152Q|RAB34_ENST00000453384.3_Missense_Mutation_p.E153Q	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	95					antigen processing and presentation (GO:0019882)|Golgi to plasma membrane protein transport (GO:0043001)|lysosome localization (GO:0032418)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|vesicle (GO:0031982)	GTP binding (GO:0005525)	p.E95Q(1)|p.E153Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					CCCAGCACCTCAAATCGTTCC	0.517																																					Pancreas(175;216 2049 29940 32498 41589)	uc002hce.2																			2	Substitution - Missense(2)		lung(2)		0						c.(283-285)GAG>CAG		Ras-related protein RAB34 isoform 1							198.0	191.0	194.0					17																	27042849		2203	4300	6503	SO:0001583	missense	83871				protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	g.chr17:27042849C>G	AF322067	CCDS11240.1, CCDS45636.1, CCDS54101.1, CCDS58536.1	17q11.2	2008-07-18			ENSG00000109113	ENSG00000109113		"""RAB, member RAS oncogene"""	16519	protein-coding gene	gene with protein product		610917				12446704	Standard	NM_031934		Approved	RAB39, RAH	uc010was.1	P0DI83	OTTHUMG00000132680	ENST00000395245.3:c.283G>C	17.37:g.27042849C>G	ENSP00000378666:p.Glu95Gln					RAB34_uc002hcg.2_Missense_Mutation_p.E95Q|RAB34_uc002hcf.2_Missense_Mutation_p.E96Q|RAB34_uc010was.1_Missense_Mutation_p.E152Q|RAB34_uc010wat.1_Missense_Mutation_p.E152Q|RAB34_uc002hch.2_Missense_Mutation_p.E95Q|RAB34_uc010wau.1_Missense_Mutation_p.E73Q|RAB34_uc010wav.1_Missense_Mutation_p.E153Q	p.E95Q	NM_031934	NP_114140	Q9BZG1	RAB34_HUMAN			4	907	-	Lung NSC(42;0.00431)		95					B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Missense_Mutation	SNP	ENST00000395245.3	37	c.283G>C	CCDS11240.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.07|15.07	2.724883|2.724883	0.48833|0.48833	.|.	.|.	ENSG00000109113|ENSG00000109113	ENST00000453384;ENST00000447716;ENST00000301043;ENST00000395243;ENST00000415040;ENST00000450529;ENST00000395242;ENST00000395245;ENST00000436730;ENST00000430132;ENST00000412625;ENST00000353676|ENST00000419712	T;T;T;T;T;T;T;T;T|.	0.80566|.	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39|.	5.68|5.68	5.68|5.68	0.88126|0.88126	Small GTP-binding protein domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.45357|0.45357	0.1338|0.1338	N|N	0.13352|0.13352	0.335|0.335	0.42572|.	D|.	0.993183|.	D;P;P;P;P;P;P|.	0.52996|.	0.957;0.916;0.866;0.916;0.885;0.89;0.916|.	P;P;P;P;P;P;P|.	0.51297|.	0.642;0.568;0.461;0.49;0.665;0.596;0.568|.	T|T	0.46652|0.46652	-0.9176|-0.9176	9|4	0.87932|.	D|.	0|.	-26.4313|-26.4313	17.2803|17.2803	0.87126|0.87126	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	153;73;95;118;118;96;95|.	E7ES60;E9PEJ9;Q9BZG1-2;C9JI96;B4DNC0;A8MYQ9;Q9BZG1|.	.;.;.;.;.;.;RAB34_HUMAN|.	Q|F	153;152;95;95;73;118;96;95;118;96;95;95|115	ENSP00000413156:E153Q;ENSP00000410403:E152Q;ENSP00000301043:E95Q;ENSP00000378664:E95Q;ENSP00000410279:E73Q;ENSP00000378663:E96Q;ENSP00000378666:E95Q;ENSP00000398706:E95Q;ENSP00000226259:E95Q|.	ENSP00000301043:E95Q|.	E|L	-|-	1|3	0|2	RAB34|RAB34	24066976|24066976	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	5.691000|5.691000	0.68249|0.68249	2.685000|2.685000	0.91497|0.91497	0.462000|0.462000	0.41574|0.41574	GAG|TTG		PASS	0.517	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345906.1	NM_031934		7	171	7	171	---	---	---	---
RPL23A	6147	broad.mit.edu	37	17	27047813	27047813	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr17:27047813G>A	ENST00000422514.2	+	2	727	c.114G>A	c.(112-114)aaG>aaA	p.K38K	SNORD42A_ENST00000459584.1_RNA|RAB34_ENST00000436730.3_5'Flank|RAB34_ENST00000301043.6_5'Flank|SNORD4A_ENST00000459174.1_RNA|RAB34_ENST00000415040.2_5'Flank|RAB34_ENST00000395245.3_5'Flank|SNORD42B_ENST00000458893.1_RNA|RAB34_ENST00000395242.2_5'Flank|RAB34_ENST00000450529.1_5'Flank|RPL23A_ENST00000394938.4_Silent_p.K76K|RAB34_ENST00000447716.1_5'Flank|RPL23A_ENST00000472628.1_5'UTR|RAB34_ENST00000453384.3_5'Flank|RPL23A_ENST00000496182.1_5'UTR|AC010761.8_ENST00000582718.1_RNA|SNORD4B_ENST00000459083.1_RNA	NM_000984.5	NP_000975.2	P62750	RL23A_HUMAN	ribosomal protein L23a	38					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.K38K(1)		endometrium(1)|lung(3)|ovary(1)	5	Lung NSC(42;0.00431)					ACAAAAAGAAGAAGATCCGCA	0.552											OREG0024282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002hci.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(112-114)AAG>AAA		ribosomal protein L23a							62.0	71.0	68.0					17																	27047813		2194	4273	6467	SO:0001819	synonymous_variant	6147				cell proliferation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	nucleotide binding|protein binding|rRNA binding|structural constituent of ribosome	g.chr17:27047813G>A	U43701	CCDS11241.1	17q11.2	2011-04-06			ENSG00000198242	ENSG00000198242		"""L ribosomal proteins"""	10317	protein-coding gene	gene with protein product		602326				9417910	Standard	NM_000984		Approved	L23A	uc002hci.3	P62750	OTTHUMG00000132684	ENST00000422514.2:c.114G>A	17.37:g.27047813G>A			OREG0024282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	791	RAB34_uc002hce.2_5'Flank|RAB34_uc002hcg.2_5'Flank|RAB34_uc002hcf.2_5'Flank|RAB34_uc010was.1_5'Flank|RAB34_uc010wat.1_5'Flank|RAB34_uc002hch.2_5'Flank|RAB34_uc010wau.1_5'Flank|RAB34_uc010wav.1_5'Flank|RPL23A_uc002hck.1_RNA|SNORD4A_uc002hcl.2_5'Flank|SNORD42A_uc002hcm.1_5'Flank|SNORD4B_uc002hcn.1_5'Flank	p.K38K	NM_000984	NP_000975	P62750	RL23A_HUMAN			2	138	+	Lung NSC(42;0.00431)		38					B2R5B2|P29316|P39024|Q92774	Silent	SNP	ENST00000422514.2	37	c.114G>A	CCDS11241.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.569772	0.28003	.	.	ENSG00000198242	ENST00000355731	.	.	.	5.83	4.86	0.63082	.	.	.	.	.	T	0.69753	0.3146	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68911	-0.5284	4	.	.	.	-18.4655	13.7649	0.62988	0.0733:0.0:0.9267:0.0	.	.	.	.	K	40	.	.	R	+	2	0	RPL23A	24071940	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.343000	0.72986	1.468000	0.48064	0.563000	0.77884	AGA		PASS	0.552	RPL23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255975.1	NM_000984		6	58	6	58	---	---	---	---
EFCAB5	374786	broad.mit.edu	37	17	28296329	28296329	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr17:28296329G>A	ENST00000394835.3	+	4	903	c.711G>A	c.(709-711)ttG>ttA	p.L237L	EFCAB5_ENST00000534836.2_Intron|EFCAB5_ENST00000536908.2_Silent_p.L181L|EFCAB5_ENST00000320856.5_Silent_p.L237L|EFCAB5_ENST00000378738.3_Silent_p.L237L|EFCAB5_ENST00000394832.2_Silent_p.L237L|EFCAB5_ENST00000541045.1_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	237			L -> V (in dbSNP:rs9897794). {ECO:0000269|PubMed:14702039}.				calcium ion binding (GO:0005509)	p.L237L(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACCAGAGGTTGATGAAAGAAG	0.363																																						uc002het.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(709-711)TTG>TTA		EF-hand calcium binding domain 5 isoform a							30.0	31.0	31.0					17																	28296329		1843	4082	5925	SO:0001819	synonymous_variant	374786						calcium ion binding	g.chr17:28296329G>A	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.711G>A	17.37:g.28296329G>A						EFCAB5_uc010wbi.1_Intron|EFCAB5_uc010wbj.1_Silent_p.L181L|EFCAB5_uc010wbk.1_Intron|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Silent_p.L116L|EFCAB5_uc010csf.2_Silent_p.L116L	p.L237L	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			4	903	+			237					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Silent	SNP	ENST00000394835.3	37	c.711G>A	CCDS11254.2																																																																																				PASS	0.363	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		9	23	9	23	---	---	---	---
ERBB2	2064	broad.mit.edu	37	17	37883158	37883158	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr17:37883158G>C	ENST00000269571.5	+	25	3220	c.3061G>C	c.(3061-3063)Gag>Cag	p.E1021Q	ERBB2_ENST00000541774.1_Missense_Mutation_p.E1006Q|ERBB2_ENST00000445658.2_Missense_Mutation_p.E745Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.E991Q|ERBB2_ENST00000406381.2_Missense_Mutation_p.E991Q|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584450.1_Missense_Mutation_p.E1021Q|MIEN1_ENST00000474210.1_5'Flank|ERBB2_ENST00000540147.1_Missense_Mutation_p.E991Q			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1021					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.E1021Q(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GGTGGATGCTGAGGAGTATCT	0.627		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		1	Substitution - Missense(1)		lung(1)	lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(3061-3063)GAG>CAG		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						108.0	111.0	110.0					17																	37883158		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37883158G>C	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3061G>C	17.37:g.37883158G>C	ENSP00000269571:p.Glu1021Gln	TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Missense_Mutation_p.E991Q|ERBB2_uc010cwa.2_Missense_Mutation_p.E1006Q|ERBB2_uc002hsp.2_Missense_Mutation_p.E824Q|ERBB2_uc010cwb.2_Missense_Mutation_p.E1021Q|ERBB2_uc010wek.1_Missense_Mutation_p.E745Q	p.E1021Q	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	25	3299	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	1021			Cytoplasmic (Potential).		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.3061G>C	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181287	0.57800	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.78481	-1.17;-1.18;-1.18;-1.18;-1.17	5.39	5.39	0.77823	Protein kinase-like domain (1);	.	.	.	.	D	0.85522	0.5716	M	0.78049	2.395	0.80722	D	1	D;D;D	0.61080	0.977;0.989;0.961	P;P;P	0.55508	0.756;0.777;0.756	D	0.85794	0.1369	9	0.44086	T	0.13	.	17.9167	0.88953	0.0:0.0:1.0:0.0	.	745;1006;1021	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	Q	991;1006;745;1021;991	ENSP00000385185:E991Q;ENSP00000446466:E1006Q;ENSP00000404047:E745Q;ENSP00000269571:E1021Q;ENSP00000443562:E991Q	ENSP00000269571:E1021Q	E	+	1	0	ERBB2	35136684	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.815000	0.99349	2.517000	0.84864	0.561000	0.74099	GAG		PASS	0.627	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			52	148	52	148	---	---	---	---
PSMD3	5709	broad.mit.edu	37	17	38142963	38142963	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr17:38142963G>C	ENST00000264639.4	+	3	721	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	PSMD3_ENST00000541736.1_Missense_Mutation_p.E45Q	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	183					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|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 cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.E183Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					GCGCTACAAAGAGGTATCCAG	0.522																																					Ovarian(186;531 2051 6385 19668 48409)	uc002htn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(547-549)GAG>CAG		proteasome 26S non-ATPase subunit 3							117.0	109.0	112.0					17																	38142963		2203	4300	6503	SO:0001583	missense	5709				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding	g.chr17:38142963G>C	D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"""Proteasome (prosome, macropain) subunits"""	9560	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 2"""	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.547G>C	17.37:g.38142963G>C	ENSP00000264639:p.Glu183Gln					PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Missense_Mutation_p.E84Q	p.E183Q	NM_002809	NP_002800	O43242	PSMD3_HUMAN			3	711	+	Colorectal(19;0.000442)		183					B3KMW9|B4DT72|Q96EI2|Q9BQA4	Missense_Mutation	SNP	ENST00000264639.4	37	c.547G>C	CCDS11356.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515236	0.64634	.	.	ENSG00000108344	ENST00000264639;ENST00000415039;ENST00000541736	T;T	0.79247	-1.25;-1.25	5.35	5.35	0.76521	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.76183	0.3952	L	0.58810	1.83	0.80722	D	1	B	0.29716	0.255	B	0.28991	0.097	T	0.74121	-0.3767	10	0.40728	T	0.16	-30.6533	18.687	0.91568	0.0:0.0:1.0:0.0	.	183	O43242	PSMD3_HUMAN	Q	183;170;45	ENSP00000264639:E183Q;ENSP00000442508:E45Q	ENSP00000264639:E183Q	E	+	1	0	PSMD3	35396489	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.492000	0.97957	2.495000	0.84180	0.462000	0.41574	GAG		PASS	0.522	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1	NM_002809		124	26	124	26	---	---	---	---
WIPF2	147179	broad.mit.edu	37	17	38421251	38421251	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr17:38421251G>C	ENST00000323571.4	+	5	1063	c.823G>C	c.(823-825)Gag>Cag	p.E275Q	WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000585043.1_Missense_Mutation_p.E275Q|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_Missense_Mutation_p.E275Q|WIPF2_ENST00000494757.1_3'UTR	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	275					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)		p.E275Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						GTCAGCCCCTGAGCTGCCACA	0.607										HNSCC(43;0.11)																												uc002hug.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						c.(823-825)GAG>CAG		WIRE protein							95.0	108.0	103.0					17																	38421251		2203	4300	6503	SO:0001583	missense	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38421251G>C	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.823G>C	17.37:g.38421251G>C	ENSP00000320924:p.Glu275Gln	HNSCC(43;0.11)				WIPF2_uc002huh.1_Missense_Mutation_p.E125Q|WIPF2_uc010cww.1_Missense_Mutation_p.E125Q|WIPF2_uc002hui.1_Missense_Mutation_p.E275Q|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Missense_Mutation_p.E275Q	p.E275Q	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN			5	1063	+			275					A8K0L3|Q658J8|Q71RE1|Q8TE44	Missense_Mutation	SNP	ENST00000323571.4	37	c.823G>C	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656531	0.47467	.	.	ENSG00000171475	ENST00000323571	T	0.31769	1.48	5.82	5.82	0.92795	.	0.104425	0.64402	D	0.000004	T	0.34221	0.0890	L	0.56769	1.78	0.80722	D	1	B	0.28082	0.2	B	0.24701	0.055	T	0.05053	-1.0909	10	0.28530	T	0.3	-13.8079	19.7529	0.96275	0.0:0.0:1.0:0.0	.	275	Q8TF74	WIPF2_HUMAN	Q	275	ENSP00000320924:E275Q	ENSP00000320924:E275Q	E	+	1	0	WIPF2	35674777	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	6.814000	0.75236	2.767000	0.95098	0.555000	0.69702	GAG		PASS	0.607	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		11	117	11	117	---	---	---	---
BRCA1	672	broad.mit.edu	37	17	41243518	41243518	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr17:41243518C>T	ENST00000357654.3	-	10	4148	c.4030G>A	c.(4030-4032)Gat>Aat	p.D1344N	BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.D1297N|BRCA1_ENST00000354071.3_Missense_Mutation_p.D1344N|BRCA1_ENST00000309486.4_Missense_Mutation_p.D1048N|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.D1344N|BRCA1_ENST00000471181.2_Missense_Mutation_p.D1344N	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1344					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D1344N(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTTTCTTCATCATCTGAAACC	0.428			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		1	Substitution - Missense(1)		lung(1)	ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52						c.(4030-4032)GAT>AAT	Homologous_recombination	breast cancer 1, early onset isoform 1							133.0	131.0	131.0					17																	41243518		2203	4300	6503	SO:0001583	missense	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41243518C>T	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.4030G>A	17.37:g.41243518C>T	ENSP00000350283:p.Asp1344Asn	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.D1273N|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.D1297N|BRCA1_uc002ict.2_Missense_Mutation_p.D1344N|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.D1344N|BRCA1_uc002ide.1_Missense_Mutation_p.D1175N|BRCA1_uc010cyy.1_Missense_Mutation_p.D1344N|BRCA1_uc010whs.1_Missense_Mutation_p.D1344N|BRCA1_uc010cyz.2_Missense_Mutation_p.D1297N|BRCA1_uc010cza.2_Missense_Mutation_p.D1318N|BRCA1_uc010wht.1_Missense_Mutation_p.D1048N	p.D1344N	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	4262	-		Breast(137;0.000717)	1344					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.4030G>A	CCDS11453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.06|13.06	2.125511|2.125511	0.37533|0.37533	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795|ENST00000461574	D;D;D;D;D;D|.	0.88201|.	-2.22;-2.33;-2.31;-2.12;-2.23;-2.35|.	5.31|5.31	2.18|2.18	0.27775|0.27775	.|.	0.216400|.	0.32655|.	N|.	0.005815|.	T|T	0.38054|0.38054	0.1026|0.1026	L|L	0.46157|0.46157	1.445|1.445	0.25682|0.25682	N|N	0.985781|0.985781	B;B;B;B;P;B|.	0.38922|.	0.221;0.221;0.221;0.221;0.651;0.328|.	B;B;B;B;B;B|.	0.35240|.	0.039;0.039;0.039;0.039;0.198;0.085|.	T|T	0.24012|0.24012	-1.0172|-1.0172	10|5	0.25106|.	T|.	0.35|.	.|.	6.7399|6.7399	0.23431|0.23431	0.0:0.6966:0.1451:0.1583|0.0:0.6966:0.1451:0.1583	.|.	1344;1303;1344;1344;1344;1344|.	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2|.	.;.;.;.;BRCA1_HUMAN;.|.	N|I	1344;1344;1344;1344;1048;1344;1297|108	ENSP00000350283:D1344N;ENSP00000326002:D1344N;ENSP00000246907:D1344N;ENSP00000310938:D1048N;ENSP00000418960:D1344N;ENSP00000418775:D1297N|.	ENSP00000310938:D1048N|.	D|M	-|-	1|3	0|0	BRCA1|BRCA1	38497044|38497044	0.985000|0.985000	0.35326|0.35326	0.987000|0.987000	0.45799|0.45799	0.854000|0.854000	0.48673|0.48673	0.940000|0.940000	0.28992|0.28992	0.801000|0.801000	0.34066|0.34066	0.655000|0.655000	0.94253|0.94253	GAT|ATG		PASS	0.428	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		6	173	6	173	---	---	---	---
BRCA1	672	broad.mit.edu	37	17	41244205	41244205	+	Missense_Mutation	SNP	C	C	G	rs397509058|rs273899705		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr17:41244205C>G	ENST00000357654.3	-	10	3461	c.3343G>C	c.(3343-3345)Gaa>Caa	p.E1115Q	BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.E1068Q|BRCA1_ENST00000354071.3_Missense_Mutation_p.E1115Q|BRCA1_ENST00000309486.4_Missense_Mutation_p.E819Q|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.E1115Q|BRCA1_ENST00000471181.2_Missense_Mutation_p.E1115Q	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1115					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E1115Q(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGAACTACTTCTTCATATTCT	0.363			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		1	Substitution - Missense(1)		lung(1)	ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52	GRCh37	CD032452	BRCA1	D		c.(3343-3345)GAA>CAA	Homologous_recombination	breast cancer 1, early onset isoform 1							107.0	111.0	110.0					17																	41244205		2203	4300	6503	SO:0001583	missense	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41244205C>G	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.3343G>C	17.37:g.41244205C>G	ENSP00000350283:p.Glu1115Gln	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.E1044Q|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.E1068Q|BRCA1_uc002ict.2_Missense_Mutation_p.E1115Q|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.E1115Q|BRCA1_uc002ide.1_Missense_Mutation_p.E946Q|BRCA1_uc010cyy.1_Missense_Mutation_p.E1115Q|BRCA1_uc010whs.1_Missense_Mutation_p.E1115Q|BRCA1_uc010cyz.2_Missense_Mutation_p.E1068Q|BRCA1_uc010cza.2_Missense_Mutation_p.E1089Q|BRCA1_uc010wht.1_Missense_Mutation_p.E819Q	p.E1115Q	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	3575	-		Breast(137;0.000717)	1115					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.3343G>C	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	7.646	0.681961	0.14907	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795	T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	5.17	3.07	0.35406	.	0.468576	0.17954	N	0.156411	D	0.85239	0.5651	M	0.87682	2.9	0.09310	N	1	P;P;B;P;D;P	0.62365	0.627;0.93;0.389;0.612;0.991;0.823	B;B;B;B;D;P	0.68353	0.198;0.289;0.124;0.222;0.957;0.513	T	0.74910	-0.3503	10	0.41790	T	0.15	.	10.4427	0.44474	0.0:0.8265:0.0:0.1735	.	1115;1074;1115;1115;1115;1115	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	Q	1115;1115;1115;1115;819;1115;1068	ENSP00000350283:E1115Q;ENSP00000326002:E1115Q;ENSP00000246907:E1115Q;ENSP00000310938:E819Q;ENSP00000418960:E1115Q;ENSP00000418775:E1068Q	ENSP00000310938:E819Q	E	-	1	0	BRCA1	38497731	0.000000	0.05858	0.017000	0.16124	0.017000	0.09413	0.241000	0.18065	1.420000	0.47138	0.557000	0.71058	GAA		PASS	0.363	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		9	177	9	177	---	---	---	---
BRCA1	672	broad.mit.edu	37	17	41244844	41244844	+	Missense_Mutation	SNP	C	C	G	rs80357899|rs397509001		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr17:41244844C>G	ENST00000357654.3	-	10	2822	c.2704G>C	c.(2704-2706)Gaa>Caa	p.E902Q	BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.E855Q|BRCA1_ENST00000354071.3_Missense_Mutation_p.E902Q|BRCA1_ENST00000309486.4_Missense_Mutation_p.E606Q|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.E902Q|BRCA1_ENST00000471181.2_Missense_Mutation_p.E902Q	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	902					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E902Q(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGTTCACATTCAAAAGTGACT	0.398			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		1	Substitution - Missense(1)		lung(1)	ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52						c.(2704-2706)GAA>CAA	Homologous_recombination	breast cancer 1, early onset isoform 1							111.0	110.0	110.0					17																	41244844		2203	4300	6503	SO:0001583	missense	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41244844C>G	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.2704G>C	17.37:g.41244844C>G	ENSP00000350283:p.Glu902Gln	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.E831Q|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.E855Q|BRCA1_uc002ict.2_Missense_Mutation_p.E902Q|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.E902Q|BRCA1_uc002ide.1_Missense_Mutation_p.E733Q|BRCA1_uc010cyy.1_Missense_Mutation_p.E902Q|BRCA1_uc010whs.1_Missense_Mutation_p.E902Q|BRCA1_uc010cyz.2_Missense_Mutation_p.E855Q|BRCA1_uc010cza.2_Missense_Mutation_p.E876Q|BRCA1_uc010wht.1_Missense_Mutation_p.E606Q	p.E902Q	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	2936	-		Breast(137;0.000717)	902					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.2704G>C	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939222	0.34189	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795	T;T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	4.85	0.561	0.17285	.	0.983616	0.08298	N	0.967440	D	0.85809	0.5783	M	0.77103	2.36	0.09310	N	1	B;B;P;D;P;P	0.53151	0.124;0.124;0.603;0.958;0.871;0.516	B;B;P;P;P;B	0.60541	0.089;0.089;0.457;0.876;0.588;0.373	T	0.70846	-0.4761	10	0.62326	D	0.03	.	4.0233	0.09675	0.0:0.5247:0.1751:0.3002	.	902;861;902;902;902;902	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	Q	902;902;902;902;606;902;855	ENSP00000350283:E902Q;ENSP00000326002:E902Q;ENSP00000246907:E902Q;ENSP00000310938:E606Q;ENSP00000418960:E902Q;ENSP00000418775:E855Q	ENSP00000310938:E606Q	E	-	1	0	BRCA1	38498370	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.018000	0.12568	-0.006000	0.14370	0.484000	0.47621	GAA		PASS	0.398	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		6	150	6	150	---	---	---	---
GJC1	10052	broad.mit.edu	37	17	42882559	42882560	+	Nonsense_Mutation	DNP	GC	GC	CT			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr17:42882559_42882560GC>CT	ENST00000426548.1	-	3	895_896	c.626_627GC>AG	c.(625-627)tGC>tAG	p.C209*	GJC1_ENST00000590758.1_Nonsense_Mutation_p.C209*|GJC1_ENST00000592524.1_Nonsense_Mutation_p.C209*|GJC1_ENST00000330514.4_Nonsense_Mutation_p.C209*	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	209					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)	p.C209W(1)|p.C209*(1)|p.C209Y(1)		NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				GAAGTCTGCTGCACACATAAAA	0.45																																						uc002ihj.2																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)		0						c.(625-627)TGC>TGG|c.(625-627)TGC>TAC		connexin 45																																				SO:0001587	stop_gained	10052				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		g.chr17:42882559G>C|g.chr17:42882560C>T	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.626_627delinsCT	17.37:g.42882559_42882560delinsCT	ENSP00000411528:p.Cys209*					GJC1_uc002ihk.2_Missense_Mutation_p.C209W|GJC1_uc002ihl.2_Missense_Mutation_p.C209W|GJC1_uc010czx.2_Missense_Mutation_p.C209W|GJC1_uc010czy.1_Missense_Mutation_p.C70W|GJC1_uc002ihk.2_Missense_Mutation_p.C209Y|GJC1_uc002ihl.2_Missense_Mutation_p.C209Y|GJC1_uc010czx.2_Missense_Mutation_p.C209Y|GJC1_uc010czy.1_Missense_Mutation_p.C70Y	p.C209W|p.C209Y	NM_005497	NP_005488	P36383	CXG1_HUMAN			2	1138|1137	-		Prostate(33;0.0959)	209			Extracellular (Potential).		B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	37	c.627C>G|c.626G>A	CCDS11487.1																																																																																				PASS	0.450	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497		153|155	31	153	31	---	---	---	---
ST6GALNAC1	55808	broad.mit.edu	37	17	74623625	74623625	+	Missense_Mutation	SNP	A	A	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr17:74623625A>G	ENST00000156626.7	-	3	1071	c.872T>C	c.(871-873)cTg>cCg	p.L291P	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	291					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.L291P(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CTGGAGCCACAGCGACTTGGA	0.557																																						uc002jsh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(871-873)CTG>CCG		sialyltransferase 7A							106.0	103.0	104.0					17																	74623625		2203	4300	6503	SO:0001583	missense	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74623625A>G	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.872T>C	17.37:g.74623625A>G	ENSP00000156626:p.Leu291Pro					ST6GALNAC1_uc002jsi.2_Missense_Mutation_p.L159P|ST6GALNAC1_uc002jsj.2_RNA	p.L291P	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN			3	1046	-			291			Lumenal (Potential).		Q6UW90|Q9NSC6	Missense_Mutation	SNP	ENST00000156626.7	37	c.872T>C	CCDS11748.1	.	.	.	.	.	.	.	.	.	.	A	6.763	0.509641	0.12883	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	T;T	0.20598	2.06;2.06	5.21	-7.39	0.01402	.	0.907200	0.09465	N	0.798442	T	0.04272	0.0118	N	0.02247	-0.625	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37009	-0.9724	10	0.07030	T	0.85	-3.2639	1.7496	0.02969	0.2982:0.0764:0.3259:0.2995	.	291	Q9NSC7	SIA7A_HUMAN	P	291	ENSP00000156626:L291P;ENSP00000351991:L291P	ENSP00000156626:L291P	L	-	2	0	ST6GALNAC1	72135220	0.000000	0.05858	0.000000	0.03702	0.946000	0.59487	-0.721000	0.04963	-0.739000	0.04809	-0.432000	0.05891	CTG		PASS	0.557	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		75	13	75	13	---	---	---	---
NPTX1	4884	broad.mit.edu	37	17	78449473	78449473	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr17:78449473C>G	ENST00000306773.4	-	2	647	c.490G>C	c.(490-492)Gat>Cat	p.D164H	NPTX1_ENST00000575212.1_5'UTR	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	164					axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.D164H(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			TGCAGCAGATCCTTGAGGCTG	0.652																																						uc002jyp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(490-492)GAT>CAT		neuronal pentraxin I precursor							63.0	56.0	58.0					17																	78449473		2203	4300	6503	SO:0001583	missense	4884				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding	g.chr17:78449473C>G	U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.490G>C	17.37:g.78449473C>G	ENSP00000307549:p.Asp164His						p.D164H	NM_002522	NP_002513	Q15818	NPTX1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)		2	648	-	all_neural(118;0.0538)		164					B3KXH3|Q5FWE6	Missense_Mutation	SNP	ENST00000306773.4	37	c.490G>C	CCDS32762.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777399	0.70107	.	.	ENSG00000171246	ENST00000306773	T	0.10573	2.86	3.7	3.7	0.42460	.	0.114842	0.56097	D	0.000025	T	0.31389	0.0795	M	0.70275	2.135	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.09818	-1.0657	10	0.62326	D	0.03	-15.5011	14.7467	0.69494	0.0:1.0:0.0:0.0	.	164	Q15818	NPTX1_HUMAN	H	164	ENSP00000307549:D164H	ENSP00000307549:D164H	D	-	1	0	NPTX1	76064068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.356000	0.59430	2.068000	0.61886	0.561000	0.74099	GAT		PASS	0.652	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1			4	35	4	35	---	---	---	---
OXLD1	339229	broad.mit.edu	37	17	79632239	79632239	+	Missense_Mutation	SNP	C	C	T	rs370129678		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr17:79632239C>T	ENST00000374741.3	-	2	446	c.436G>A	c.(436-438)Gga>Aga	p.G146R	PDE6G_ENST00000574777.1_5'Flank|PDE6G_ENST00000571224.1_5'Flank|OXLD1_ENST00000571503.1_3'UTR|OXLD1_ENST00000573786.1_5'UTR|CCDC137_ENST00000329214.8_5'Flank	NM_001039842.1	NP_001034931.1	Q5BKU9	OXLD1_HUMAN	oxidoreductase-like domain containing 1	146						mitochondrion (GO:0005739)		p.G146R(1)									GCTCAGCCTCCGCACCTGGTG	0.662																																						uc002kba.2																			1	Substitution - Missense(1)		lung(1)		0						c.(436-438)GGA>AGA		hypothetical protein LOC339229							39.0	39.0	39.0					17																	79632239		2203	4300	6503	SO:0001583	missense	339229							g.chr17:79632239C>T		CCDS32766.1	17q25.3	2012-07-20	2012-07-20	2012-07-20	ENSG00000204237	ENSG00000204237			27901	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 90"""	C17orf90			Standard	NM_001039842		Approved	MGC104712	uc002kba.3	Q5BKU9	OTTHUMG00000178063	ENST00000374741.3:c.436G>A	17.37:g.79632239C>T	ENSP00000363873:p.Gly146Arg					C17orf90_uc002kbb.2_3'UTR|CCDC137_uc002kbc.3_5'Flank|CCDC137_uc002kbd.2_5'Flank	p.G146R	NM_001039842	NP_001034931	Q5BKU9	CQ090_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		2	447	-	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		146					A6ND24	Missense_Mutation	SNP	ENST00000374741.3	37	c.436G>A	CCDS32766.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692243	0.30052	.	.	ENSG00000204237	ENST00000374741	.	.	.	4.65	-0.488	0.12056	.	0.823089	0.10013	N	0.726989	T	0.32406	0.0828	L	0.51422	1.61	0.09310	N	1	B	0.21688	0.059	B	0.12156	0.007	T	0.35699	-0.9778	9	0.87932	D	0	-7.6468	4.4361	0.11550	0.0:0.4064:0.1721:0.4215	.	146	Q5BKU9	CQ090_HUMAN	R	146	.	ENSP00000363873:G146R	G	-	1	0	C17orf90	77242644	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.037000	0.13840	0.058000	0.16222	0.655000	0.94253	GGA		PASS	0.662	OXLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440380.1	NM_001039842		42	3	42	3	---	---	---	---
NAPG	8774	broad.mit.edu	37	18	10532793	10532793	+	Splice_Site	SNP	G	G	A	rs367979785		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr18:10532793G>A	ENST00000322897.6	+	3	278		c.e3+1		NAPG_ENST00000542979.1_Splice_Site	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma						intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)		p.?(1)		large_intestine(2)|lung(2)	4						ATAATAGGGCGTATCTTTTTC	0.328																																						uc002kon.2																			1	Unknown(1)		lung(1)		0						c.e3+1		N-ethylmaleimide-sensitive factor attachment		G		0,3596		0,0,1798	26.0	28.0	27.0			5.9	1.0	18		27	1,8127		0,1,4063	no	splice-5	NAPG	NM_003826.2		0,1,5861	AA,AG,GG		0.0123,0.0,0.0085			10532793	1,11723	1798	4064	5862	SO:0001630	splice_region_variant	8774				cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding	g.chr18:10532793G>A	U78107	CCDS45827.1	18p11.21	2013-02-28			ENSG00000134265	ENSG00000134265			7642	protein-coding gene	gene with protein product	"""gamma SNAP"""	603216				9269766	Standard	NM_003826		Approved		uc002kon.3	Q99747	OTTHUMG00000179119	ENST00000322897.6:c.209+1G>A	18.37:g.10532793G>A						NAPG_uc010wzr.1_Splice_Site|NAPG_uc002koo.2_Intron	p.A70_splice	NM_003826	NP_003817	Q99747	SNAG_HUMAN			3	436	+								B4DFC9|Q9BUV1	Splice_Site	SNP	ENST00000322897.6	37	c.209_splice	CCDS45827.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740352	0.89573	0.0	1.23E-4	ENSG00000134265	ENST00000322897	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3214	0.98679	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NAPG	10522793	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.267000	0.95665	2.804000	0.96469	0.655000	0.94253	.		PASS	0.328	NAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444873.1	NM_003826	Intron	9	11	9	11	---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21330896	21330896	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr18:21330896G>C	ENST00000313654.9	+	5	940	c.699G>C	c.(697-699)ttG>ttC	p.L233F	LAMA3_ENST00000399516.3_Missense_Mutation_p.L233F	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	233	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.L233F(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TGGTGTCCTTGATAAACGGTC	0.398																																						uc002kuq.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(697-699)TTG>TTC		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						126.0	123.0	124.0					18																	21330896		1863	4091	5954	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21330896G>C	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.699G>C	18.37:g.21330896G>C	ENSP00000324532:p.Leu233Phe					LAMA3_uc010dlv.1_Missense_Mutation_p.L233F|LAMA3_uc002kur.2_Missense_Mutation_p.L233F	p.L233F	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			5	785	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		233			Laminin N-terminal.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.699G>C	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679835	0.68042	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.77098	-1.07;-1.07	5.64	3.84	0.44239	Laminin, N-terminal (3);	.	.	.	.	D	0.87489	0.6190	M	0.86097	2.795	0.80722	D	1	D;D;P	0.89917	1.0;0.991;0.946	D;D;P	0.91635	0.999;0.915;0.818	D	0.88372	0.2995	9	0.87932	D	0	.	10.0414	0.42160	0.2089:0.0:0.7911:0.0	.	233;233;233	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	F	233	ENSP00000324532:L233F;ENSP00000382432:L233F	ENSP00000324532:L233F	L	+	3	2	LAMA3	19584894	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.553000	0.36255	1.372000	0.46190	0.655000	0.94253	TTG		PASS	0.398	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		5	202	5	202	---	---	---	---
DSC1	1823	broad.mit.edu	37	18	28725645	28725645	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr18:28725645G>A	ENST00000257198.5	-	7	1129	c.868C>T	c.(868-870)Cat>Tat	p.H290Y	DSC1_ENST00000257197.3_Missense_Mutation_p.H290Y|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	290	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H290Y(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TGCTTTGGATGATCTGGGATT	0.408																																						uc002kwn.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(868-870)CAT>TAT		desmocollin 1 isoform Dsc1a preproprotein							204.0	202.0	203.0					18																	28725645		2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28725645G>A	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.868C>T	18.37:g.28725645G>A	ENSP00000257198:p.His290Tyr					DSC1_uc002kwm.2_Missense_Mutation_p.H290Y	p.H290Y	NM_024421	NP_077739	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		7	1130	-			290			Extracellular (Potential).|Cadherin 2.		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.868C>T	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284192	0.40394	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.61158	0.13;0.13	5.32	-2.29	0.06805	Cadherin (4);Cadherin-like (1);	0.980175	0.08318	N	0.964381	T	0.46171	0.1379	L	0.27053	0.805	0.09310	N	1	P;P	0.39157	0.662;0.662	P;B	0.45377	0.478;0.377	T	0.42716	-0.9435	10	0.14656	T	0.56	.	10.2455	0.43339	0.0666:0.0:0.3722:0.5612	.	290;290	Q08554;Q9HB00	DSC1_HUMAN;.	Y	290	ENSP00000257197:H290Y;ENSP00000257198:H290Y	ENSP00000257197:H290Y	H	-	1	0	DSC1	26979643	0.142000	0.22610	0.002000	0.10522	0.888000	0.51559	0.576000	0.23744	-0.072000	0.12864	0.484000	0.47621	CAT		PASS	0.408	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		5	269	5	269	---	---	---	---
DSG4	147409	broad.mit.edu	37	18	28992992	28992992	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr18:28992992G>T	ENST00000308128.4	+	16	2692	c.2557G>T	c.(2557-2559)Gaa>Taa	p.E853*	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Nonsense_Mutation_p.E872*|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	853					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.E853*(1)|p.E872*(1)		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)			CACAGAAATTGAACCATTTCC	0.403																																						uc002kwq.2																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(5)|ovary(3)	8						c.(2557-2559)GAA>TAA		desmoglein 4 isoform 2 preproprotein							153.0	143.0	146.0					18																	28992992		2203	4300	6503	SO:0001587	stop_gained	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28992992G>T	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.2557G>T	18.37:g.28992992G>T	ENSP00000311859:p.Glu853*					DSG4_uc002kwr.2_Nonsense_Mutation_p.E872*	p.E853*	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		16	2692	+			853			Cytoplasmic (Potential).		A2RUI1|Q6Y9L9|Q8IXV4	Nonsense_Mutation	SNP	ENST00000308128.4	37	c.2557G>T	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	G	40	8.233924	0.98719	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	.	.	.	5.64	5.64	0.86602	.	0.000000	0.35320	N	0.003299	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7026	0.96062	0.0:0.0:1.0:0.0	.	.	.	.	X	853;872	.	ENSP00000311859:E853X	E	+	1	0	DSG4	27246990	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	5.122000	0.64697	2.650000	0.89964	0.650000	0.86243	GAA		PASS	0.403	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		166	116	166	116	---	---	---	---
DSG3	1830	broad.mit.edu	37	18	29049058	29049058	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr18:29049058C>G	ENST00000257189.4	+	12	1726	c.1643C>G	c.(1642-1644)tCg>tGg	p.S548W		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	548					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S548W(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACAGCTACCTCGGCCCTCCTC	0.458																																						uc002kws.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9						c.(1642-1644)TCG>TGG		desmoglein 3 preproprotein							127.0	126.0	127.0					18																	29049058		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29049058C>G	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1643C>G	18.37:g.29049058C>G	ENSP00000257189:p.Ser548Trp						p.S548W	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		12	1752	+			548			Extracellular (Potential).		A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.1643C>G	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.125942	0.37533	.	.	ENSG00000134757	ENST00000257189	T	0.62232	0.04	5.85	5.85	0.93711	.	0.170156	0.28082	N	0.016679	T	0.76709	0.4025	M	0.66939	2.045	0.22754	N	0.998778	D	0.89917	1.0	D	0.87578	0.998	T	0.70256	-0.4922	10	0.72032	D	0.01	.	13.2954	0.60294	0.0:0.8414:0.1586:0.0	.	548	P32926	DSG3_HUMAN	W	548	ENSP00000257189:S548W	ENSP00000257189:S548W	S	+	2	0	DSG3	27303056	0.228000	0.23718	0.235000	0.24058	0.272000	0.26649	3.082000	0.50128	2.767000	0.95098	0.655000	0.94253	TCG		PASS	0.458	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		4	307	4	307	---	---	---	---
MYO5B	4645	broad.mit.edu	37	18	47581668	47581668	+	Missense_Mutation	SNP	C	C	A	rs559605297		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr18:47581668C>A	ENST00000285039.7	-	2	407	c.108G>T	c.(106-108)aaG>aaT	p.K36N		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	36					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.K36N(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCTGTAGGCTCTTGTCTCCTT	0.557																																						uc002leb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(106-108)AAG>AAT		myosin VB							111.0	102.0	105.0					18																	47581668		1853	4097	5950	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47581668C>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.108G>T	18.37:g.47581668C>A	ENSP00000285039:p.Lys36Asn					MYO5B_uc002lec.1_Missense_Mutation_p.K35N	p.K36N	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	2	396	-			36			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.108G>T	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845292	0.32606	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	T	0.48201	0.82	5.94	3.16	0.36331	.	0.408066	0.27595	N	0.018677	T	0.34571	0.0902	L	0.41356	1.27	0.45634	D	0.998566	B;B	0.14438	0.01;0.004	B;B	0.11329	0.006;0.004	T	0.17319	-1.0373	10	0.36615	T	0.2	.	7.1895	0.25818	0.0:0.6878:0.0:0.3122	.	35;36	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	N	36;35	ENSP00000285039:K36N	ENSP00000285039:K36N	K	-	3	2	MYO5B	45835666	0.019000	0.18553	0.763000	0.31416	0.767000	0.43475	0.330000	0.19715	1.513000	0.48852	0.557000	0.71058	AAG		PASS	0.557	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			74	50	74	50	---	---	---	---
FECH	2235	broad.mit.edu	37	18	55221509	55221509	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr18:55221509G>C	ENST00000262093.5	-	9	1211	c.1060C>G	c.(1060-1062)Caa>Gaa	p.Q354E	FECH_ENST00000382873.3_Missense_Mutation_p.Q360E	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	354					cellular response to dexamethasone stimulus (GO:0071549)|cholesterol metabolic process (GO:0008203)|detection of UV (GO:0009589)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|iron ion homeostasis (GO:0055072)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|regulation of gene expression (GO:0010468)|regulation of hemoglobin biosynthetic process (GO:0046984)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insecticide (GO:0017085)|response to lead ion (GO:0010288)|response to light stimulus (GO:0009416)|response to methylmercury (GO:0051597)|response to platinum ion (GO:0070541)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle assembly (GO:0034379)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferrochelatase activity (GO:0004325)|ferrous iron binding (GO:0008198)|heme binding (GO:0020037)|iron-responsive element binding (GO:0030350)	p.Q360E(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				GCTAAAACTTGAGAGTACTCG	0.413																																						uc002lgq.3																			1	Substitution - Missense(1)	p.L354L(1)	lung(1)	central_nervous_system(1)	1						c.(1060-1062)CAA>GAA		ferrochelatase isoform b precursor							237.0	232.0	234.0					18																	55221509		2203	4300	6503	SO:0001583	missense	2235				generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding	g.chr18:55221509G>C	D00726	CCDS11964.1, CCDS32836.1	18q21.2-q21.3	2010-05-11	2010-05-11		ENSG00000066926	ENSG00000066926	4.99.1.1		3647	protein-coding gene	gene with protein product	"""protoporphyria"""	612386	"""ferrochelatase (protoporphyria)"""			1838349	Standard	NM_001012515		Approved		uc002lgp.4	P22830	OTTHUMG00000132740	ENST00000262093.5:c.1060C>G	18.37:g.55221509G>C	ENSP00000262093:p.Gln354Glu					FECH_uc002lgp.3_Missense_Mutation_p.Q360E|FECH_uc002lgr.3_Missense_Mutation_p.Q212E	p.Q354E	NM_000140	NP_000131	P22830	HEMH_HUMAN			9	1177	-		Colorectal(73;0.227)	354					A8KA72|Q8IXN1|Q8NAN0	Missense_Mutation	SNP	ENST00000262093.5	37	c.1060C>G	CCDS11964.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899127	0.33535	.	.	ENSG00000066926	ENST00000262093;ENST00000382873	D;D	0.96491	-4.03;-4.03	6.17	4.34	0.51931	.	0.143065	0.64402	D	0.000004	D	0.85915	0.5808	N	0.01146	-0.985	0.49798	D	0.999823	B;B	0.16603	0.017;0.018	B;B	0.12156	0.007;0.006	T	0.80939	-0.1158	10	0.02654	T	1	-9.413	15.2972	0.73919	0.0:0.0:0.744:0.256	.	354;360	P22830;P22830-2	HEMH_HUMAN;.	E	354;360	ENSP00000262093:Q354E;ENSP00000372326:Q360E	ENSP00000262093:Q354E	Q	-	1	0	FECH	53372507	1.000000	0.71417	0.075000	0.20258	0.611000	0.37282	6.157000	0.71846	0.872000	0.35775	-0.182000	0.12963	CAA		PASS	0.413	FECH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256098.1			15	615	15	615	---	---	---	---
CBLN2	147381	broad.mit.edu	37	18	70205928	70205928	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr18:70205928C>G	ENST00000269503.4	-	4	1210	c.437G>C	c.(436-438)aGc>aCc	p.S146T	CBLN2_ENST00000581073.1_Missense_Mutation_p.S32T|CBLN2_ENST00000585159.1_Missense_Mutation_p.S146T|CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000584764.1_Missense_Mutation_p.S30T	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	146	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)		p.S146T(1)		endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CACGTGGAAGCTGAAGCTATA	0.398																																						uc002lku.2																			1	Substitution - Missense(1)		lung(1)		0						c.(436-438)AGC>ACC		cerebellin 2 precursor							123.0	116.0	119.0					18																	70205928		2203	4300	6503	SO:0001583	missense	147381					integral to membrane		g.chr18:70205928C>G	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.437G>C	18.37:g.70205928C>G	ENSP00000269503:p.Ser146Thr					CBLN2_uc002lkv.2_Missense_Mutation_p.S146T	p.S146T	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN			3	672	-		Esophageal squamous(42;0.131)	146			C1q.		Q53Z56	Missense_Mutation	SNP	ENST00000269503.4	37	c.437G>C	CCDS11999.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939144	0.52972	.	.	ENSG00000141668	ENST00000269503	T	0.75477	-0.94	5.51	5.51	0.81932	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	T	0.70544	0.3236	L	0.41906	1.305	0.80722	D	1	P	0.40681	0.727	P	0.45660	0.489	T	0.65405	-0.6176	10	0.02654	T	1	-33.7694	19.7945	0.96474	0.0:1.0:0.0:0.0	.	146	Q8IUK8	CBLN2_HUMAN	T	146	ENSP00000269503:S146T	ENSP00000269503:S146T	S	-	2	0	CBLN2	68356908	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.884000	0.63135	2.746000	0.94184	0.591000	0.81541	AGC		PASS	0.398	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511		145	149	145	149	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74622035	74622035	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr18:74622035G>T	ENST00000253159.8	+	15	2755	c.2557G>T	c.(2557-2559)Gct>Tct	p.A853S	ZNF236_ENST00000320610.9_Missense_Mutation_p.A855S	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	853					cellular response to glucose stimulus (GO:0071333)|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.A853S(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TGGGTTTGTGGCTCCACAGGA	0.517																																						uc002lmi.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(2557-2559)GCT>TCT		zinc finger protein 236							102.0	97.0	99.0					18																	74622035		1852	4094	5946	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74622035G>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2557G>T	18.37:g.74622035G>T	ENSP00000253159:p.Ala853Ser					ZNF236_uc002lmj.2_RNA	p.A853S	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	15	2755	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	853					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.2557G>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	9.388	1.074693	0.20227	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.10668	2.85;3.01	5.2	3.19	0.36642	.	0.254661	0.37219	N	0.002194	T	0.07279	0.0184	L	0.40543	1.245	0.31788	N	0.630092	B	0.20368	0.044	B	0.19148	0.024	T	0.27226	-1.0080	10	0.11794	T	0.64	.	5.1105	0.14806	0.4736:0.0:0.5264:0.0	.	853	Q9UL36	ZN236_HUMAN	S	853	ENSP00000253159:A853S;ENSP00000444524:A853S	ENSP00000253159:A853S	A	+	1	0	ZNF236	72751023	1.000000	0.71417	0.049000	0.19019	0.968000	0.65278	4.610000	0.61155	0.616000	0.30141	0.563000	0.77884	GCT		PASS	0.517	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			115	125	115	125	---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76753675	76753675	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr18:76753675G>A	ENST00000537592.2	+	2	1684	c.1684G>A	c.(1684-1686)Gag>Aag	p.E562K	SALL3_ENST00000536229.3_Missense_Mutation_p.E429K|SALL3_ENST00000575389.2_Missense_Mutation_p.E562K	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	562					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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.E562K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGCCTCCAGCGAGTGCGCCTC	0.741																																						uc002lmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1684-1686)GAG>AAG		sal-like 3							6.0	7.0	7.0					18																	76753675		2048	4059	6107	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753675G>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1684G>A	18.37:g.76753675G>A	ENSP00000441823:p.Glu562Lys					SALL3_uc010dra.2_Missense_Mutation_p.E169K	p.E562K	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	1684	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	562					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.1684G>A	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425484	0.43020	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.09538	2.97	5.2	4.26	0.50523	.	0.000000	0.56097	D	0.000021	T	0.13200	0.0320	M	0.78223	2.4	0.80722	D	1	P;P	0.36438	0.531;0.553	B;B	0.25140	0.056;0.058	T	0.09796	-1.0658	10	0.22706	T	0.39	-31.4758	15.5441	0.76081	0.0:0.1381:0.8619:0.0	.	294;562	F5GXY4;Q9BXA9	.;SALL3_HUMAN	K	562;562;294	ENSP00000441823:E562K	ENSP00000299466:E562K	E	+	1	0	SALL3	74854663	1.000000	0.71417	0.997000	0.53966	0.868000	0.49771	6.617000	0.74210	2.584000	0.87258	0.563000	0.77884	GAG		PASS	0.741	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		3	10	3	10	---	---	---	---
PARD6G	84552	broad.mit.edu	37	18	77960632	77960632	+	Missense_Mutation	SNP	T	T	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr18:77960632T>C	ENST00000353265.3	-	2	453	c.256A>G	c.(256-258)Agt>Ggt	p.S86G	PARD6G_ENST00000470488.2_Missense_Mutation_p.S86G|AC139100.3_ENST00000588950.1_RNA	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	86	OPR.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.S86G(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		GGATTTGCACTAGAAACCGCC	0.463																																						uc002lny.2																			1	Substitution - Missense(1)		lung(1)		0						c.(256-258)AGT>GGT		PAR-6 gamma protein							88.0	84.0	85.0					18																	77960632		2203	4300	6503	SO:0001583	missense	84552				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding	g.chr18:77960632T>C		CCDS12022.1	18q23	2013-08-28	2013-08-28		ENSG00000178184	ENSG00000178184			16076	protein-coding gene	gene with protein product		608976	"""par-6 (partitioning defective 6, C.elegans) homolog gamma"", ""par-6 partitioning defective 6 homolog gamma (C. elegans)"""			11260256	Standard	NM_032510		Approved	PAR-6G, PAR6gamma	uc002lny.3	Q9BYG4	OTTHUMG00000132922	ENST00000353265.3:c.256A>G	18.37:g.77960632T>C	ENSP00000343144:p.Ser86Gly					PARD6G_uc010xfp.1_Missense_Mutation_p.S86G	p.S86G	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)	2	422	-		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)	86			OPR.		A8QM57	Missense_Mutation	SNP	ENST00000353265.3	37	c.256A>G	CCDS12022.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.526355	0.64860	.	.	ENSG00000178184	ENST00000353265	T	0.22945	1.93	5.43	5.43	0.79202	Phox/Bem1p (2);	0.045484	0.85682	D	0.000000	T	0.44582	0.1300	M	0.73962	2.25	0.46260	D	0.998954	P;P	0.47484	0.896;0.755	P;P	0.54431	0.492;0.752	T	0.35126	-0.9801	9	.	.	.	-27.5458	14.5927	0.68378	0.0:0.0:0.0:1.0	.	86;86	A8QM57;Q9BYG4	.;PAR6G_HUMAN	G	86	ENSP00000343144:S86G	.	S	-	1	0	PARD6G	76061623	0.707000	0.27866	0.874000	0.34290	0.411000	0.31082	5.027000	0.64109	2.282000	0.76494	0.533000	0.62120	AGT		PASS	0.463	PARD6G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256435.2	NM_032510		72	112	72	112	---	---	---	---
MKNK2	2872	broad.mit.edu	37	19	2041127	2041127	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:2041127G>C	ENST00000591601.1	-	11	1057	c.1022C>G	c.(1021-1023)gCc>gGc	p.A341G	MKNK2_ENST00000588014.1_Missense_Mutation_p.A85G|MKNK2_ENST00000250896.3_Missense_Mutation_p.A341G|MKNK2_ENST00000591588.1_Missense_Mutation_p.A85G|MKNK2_ENST00000591142.1_Missense_Mutation_p.A85G|MKNK2_ENST00000309340.7_Missense_Mutation_p.A341G|MKNK2_ENST00000541165.1_Missense_Mutation_p.A210G			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	341	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.A341G(2)		breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGTCTTTGGCAGCGCAGGA	0.607																																						uc002lus.2																			2	Substitution - Missense(2)		lung(2)	lung(1)|breast(1)	2						c.(1021-1023)GCC>GGC		MAP kinase-interacting serine/threonine kinase 2							186.0	142.0	157.0					19																	2041127		2203	4300	6503	SO:0001583	missense	2872				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr19:2041127G>C	AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"""Putative map kinase interacting kinase"""	605069	"""G protein-coupled receptor kinase 7"""	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.1022C>G	19.37:g.2041127G>C	ENSP00000467811:p.Ala341Gly					MKNK2_uc002luq.1_Missense_Mutation_p.A85G|MKNK2_uc010xgu.1_Missense_Mutation_p.A180G|MKNK2_uc010xgv.1_Missense_Mutation_p.A210G|MKNK2_uc002lur.2_Missense_Mutation_p.A341G|MKNK2_uc002lut.1_Missense_Mutation_p.A85G	p.A341G	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1267	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	341			Protein kinase.		Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Missense_Mutation	SNP	ENST00000591601.1	37	c.1022C>G	CCDS12080.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.505451	0.64410	.	.	ENSG00000099875	ENST00000309340;ENST00000250896;ENST00000541165;ENST00000545627	T;T;T	0.67698	-0.28;-0.28;-0.28	3.94	3.94	0.45596	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80819	0.4696	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.84115	0.0403	10	0.87932	D	0	-8.8179	15.1499	0.72689	0.0:0.0:1.0:0.0	.	146;341;341;243	Q59GN5;Q9HBH9;Q9HBH9-2;Q9NT28	.;MKNK2_HUMAN;.;.	G	341;341;210;281	ENSP00000309485:A341G;ENSP00000250896:A341G;ENSP00000438904:A210G	ENSP00000250896:A341G	A	-	2	0	MKNK2	1992127	1.000000	0.71417	0.985000	0.45067	0.151000	0.21798	9.343000	0.97047	2.046000	0.60703	0.555000	0.69702	GCC		PASS	0.607	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	NM_199054		4	170	4	170	---	---	---	---
ZNF554	115196	broad.mit.edu	37	19	2834362	2834362	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:2834362G>C	ENST00000317243.5	+	5	1327	c.1129G>C	c.(1129-1131)Gag>Cag	p.E377Q		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	377					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.E377Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATACTGGAGAGAAGCCCTA	0.552																																						uc002lwm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1129-1131)GAG>CAG		zinc finger protein 554							42.0	47.0	45.0					19																	2834362		2180	4290	6470	SO:0001583	missense	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2834362G>C	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"""Zinc fingers, C2H2-type"", ""-"""	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.1129G>C	19.37:g.2834362G>C	ENSP00000321132:p.Glu377Gln					ZNF554_uc002lwl.2_Missense_Mutation_p.E326Q	p.E377Q	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1327	+		Hepatocellular(1079;0.137)	377					Q8NAT3|Q9BWN3	Missense_Mutation	SNP	ENST00000317243.5	37	c.1129G>C	CCDS42462.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.689795	0.68271	.	.	ENSG00000172006	ENST00000317243	T	0.25912	1.77	2.76	2.76	0.32466	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40909	0.1136	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.34079	-0.9843	9	0.87932	D	0	.	11.2941	0.49267	0.0:0.0:1.0:0.0	.	377	Q86TJ5	ZN554_HUMAN	Q	377	ENSP00000321132:E377Q	ENSP00000321132:E377Q	E	+	1	0	ZNF554	2785362	1.000000	0.71417	0.997000	0.53966	0.821000	0.46438	6.232000	0.72313	1.560000	0.49568	0.573000	0.79308	GAG		PASS	0.552	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		6	117	6	117	---	---	---	---
TMIGD2	126259	broad.mit.edu	37	19	4298232	4298232	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:4298232C>T	ENST00000301272.2	-	2	202	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000595645.1_Missense_Mutation_p.E53K|TMIGD2_ENST00000600114.1_Intron	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	53	Ig-like.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.E53K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGAGCCGTTCCCAGGCTGTG	0.657																																						uc002lzx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(157-159)GAA>AAA		transmembrane and immunoglobulin domain							40.0	36.0	37.0					19																	4298232		2203	4300	6503	SO:0001583	missense	126259					integral to membrane		g.chr19:4298232C>T	BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.157G>A	19.37:g.4298232C>T	ENSP00000301272:p.Glu53Lys					TMIGD2_uc010dtv.1_Missense_Mutation_p.E53K	p.E53K	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	2	203	-			53			Extracellular (Potential).|Ig-like.		Q6UW59	Missense_Mutation	SNP	ENST00000301272.2	37	c.157G>A	CCDS12126.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487701	0.64074	.	.	ENSG00000167664	ENST00000301272	T	0.12672	2.66	3.99	2.93	0.34026	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.22513	0.0543	L	0.29908	0.895	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.69307	0.937;0.963	T	0.06320	-1.0833	9	0.87932	D	0	.	9.3621	0.38201	0.0:0.7809:0.2191:0.0	.	53;53	Q96BF3-2;Q96BF3	.;TMIG2_HUMAN	K	53	ENSP00000301272:E53K	ENSP00000301272:E53K	E	-	1	0	TMIGD2	4249232	0.543000	0.26434	0.065000	0.19835	0.185000	0.23345	2.169000	0.42434	0.878000	0.35920	0.484000	0.47621	GAA		PASS	0.657	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	NM_144615		4	69	4	69	---	---	---	---
DPP9	91039	broad.mit.edu	37	19	4704166	4704166	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:4704166C>A	ENST00000598800.1	-	7	995	c.490G>T	c.(490-492)Gac>Tac	p.D164Y	DPP9_ENST00000597849.1_Missense_Mutation_p.D193Y|DPP9_ENST00000594671.1_Missense_Mutation_p.D164Y|DPP9_ENST00000262960.9_Missense_Mutation_p.D193Y			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	164						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)	p.D272Y(1)		cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		TTGCCGCCGTCGCGGCAGTGG	0.672																																						uc002mba.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(577-579)GAC>TAC		dipeptidylpeptidase 9							38.0	47.0	44.0					19																	4704166		2033	4185	6218	SO:0001583	missense	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4704166C>A	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.490G>T	19.37:g.4704166C>A	ENSP00000469603:p.Asp164Tyr					DPP9_uc002mbb.2_Missense_Mutation_p.D193Y|DPP9_uc002mbc.2_Missense_Mutation_p.D193Y	p.D193Y	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	6	835	-		Hepatocellular(1079;0.137)	164					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37	c.577G>T		.	.	.	.	.	.	.	.	.	.	C	13.38	2.219236	0.39201	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.30714	1.52	4.5	3.46	0.39613	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.050653	0.85682	D	0.000000	T	0.50956	0.1646	M	0.85197	2.74	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76575	0.985;0.988	T	0.62167	-0.6911	10	0.02654	T	1	-24.2895	11.8086	0.52169	0.0:0.914:0.0:0.086	.	164;193	Q86TI2;Q1ZZB8	DPP9_HUMAN;.	Y	272;134;193	ENSP00000262960:D193Y	ENSP00000262960:D193Y	D	-	1	0	DPP9	4655166	1.000000	0.71417	0.013000	0.15412	0.001000	0.01503	7.473000	0.81007	1.115000	0.41800	-0.291000	0.09656	GAC		PASS	0.672	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			9	19	9	19	---	---	---	---
C3	718	broad.mit.edu	37	19	6696668	6696668	+	Silent	SNP	C	C	T	rs149209011		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:6696668C>T	ENST00000245907.6	-	22	2891	c.2799G>A	c.(2797-2799)ccG>ccA	p.P933P		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	933					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.P933P(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TGATTCCTTCCGGCTACGCAG	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17449	0.0		0.0	False		,,,				2504	0.0					uc002mfm.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)|pancreas(1)	5						c.(2797-2799)CCG>CCA		complement component 3 precursor		C		4,4402	9.9+/-24.2	0,4,2199	141.0	135.0	137.0		2799	-11.5	0.0	19	dbSNP_134	137	0,8600		0,0,4300	no	coding-synonymous	C3	NM_000064.2		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		933/1664	6696668	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6696668C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2799G>A	19.37:g.6696668C>T							p.P933P	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	22	2861	-			933					A7E236	Silent	SNP	ENST00000245907.6	37	c.2799G>A	CCDS32883.1																																																																																				PASS	0.577	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		5	253	5	253	---	---	---	---
XAB2	56949	broad.mit.edu	37	19	7685290	7685290	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:7685290G>A	ENST00000358368.4	-	16	2174	c.2137C>T	c.(2137-2139)Cgg>Tgg	p.R713W	XAB2_ENST00000534844.1_Missense_Mutation_p.R710W	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	713					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R710W(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TTGCCATGCCGGACCTCAAAG	0.637								Direct reversal of damage;Nucleotide excision repair (NER)																														uc002mgx.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|breast(1)|skin(1)	4						c.(2137-2139)CGG>TGG	Direct_reversal_of_damage|NER	XPA binding protein 2							92.0	81.0	85.0					19																	7685290		2203	4300	6503	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7685290G>A	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.2137C>T	19.37:g.7685290G>A	ENSP00000351137:p.Arg713Trp						p.R713W	NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN			16	2163	-			713			HAT 14.		Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.2137C>T	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963859	0.53507	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.03689	3.84;3.84	4.7	3.65	0.41850	.	0.167176	0.39985	N	0.001215	T	0.16257	0.0391	M	0.84683	2.71	0.58432	D	0.999999	D	0.76494	0.999	P	0.60949	0.881	T	0.00724	-1.1593	10	0.87932	D	0	-19.4714	11.6676	0.51383	0.0888:0.0:0.9112:0.0	.	713	Q9HCS7	SYF1_HUMAN	W	713;710	ENSP00000351137:R713W;ENSP00000438225:R710W	ENSP00000351137:R713W	R	-	1	2	XAB2	7591290	1.000000	0.71417	0.783000	0.31826	0.232000	0.25224	7.434000	0.80377	0.960000	0.38005	0.305000	0.20034	CGG		PASS	0.637	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		76	45	76	45	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9020767	9020767	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:9020767G>A	ENST00000397910.4	-	20	37538	c.37335C>T	c.(37333-37335)ctC>ctT	p.L12445L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12447	SEA 3. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L12445L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTCTCACCTGAGAGAGGTCA	0.547																																						uc002mkp.2																			1	Substitution - coding silent(1)		lung(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(37333-37335)CTC>CTT		mucin 16							144.0	124.0	130.0					19																	9020767		1978	4161	6139	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9020767G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37335C>T	19.37:g.9020767G>A							p.L12445L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			20	37539	-			12447			Extracellular (Potential).|SEA 3.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.37335C>T	CCDS54212.1																																																																																				PASS	0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	102	8	102	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9020769	9020769	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:9020769G>A	ENST00000397910.4	-	20	37536	c.37333C>T	c.(37333-37335)Ctc>Ttc	p.L12445F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12447	SEA 3. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L12445F(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTCACCTGAGAGAGGTCAGT	0.537																																						uc002mkp.2																			1	Substitution - Missense(1)		lung(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(37333-37335)CTC>TTC		mucin 16							147.0	127.0	134.0					19																	9020769		1992	4166	6158	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9020769G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37333C>T	19.37:g.9020769G>A	ENSP00000381008:p.Leu12445Phe						p.L12445F	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			20	37537	-			12447			Extracellular (Potential).|SEA 3.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.37333C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	9.763	1.170516	0.21621	.	.	ENSG00000181143	ENST00000397910	T	0.38240	1.15	3.19	3.19	0.36642	.	.	.	.	.	T	0.57066	0.2028	M	0.75777	2.31	.	.	.	D	0.89917	1.0	D	0.87578	0.998	T	0.69895	-0.5021	8	0.87932	D	0	.	10.5428	0.45043	0.0:0.0:1.0:0.0	.	12445	B5ME49	.	F	12445	ENSP00000381008:L12445F	ENSP00000381008:L12445F	L	-	1	0	MUC16	8881769	0.863000	0.29885	0.386000	0.26170	0.022000	0.10575	1.068000	0.30629	1.696000	0.51158	0.455000	0.32223	CTC		PASS	0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	104	8	104	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9066654	9066654	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:9066654G>A	ENST00000397910.4	-	3	20995	c.20792C>T	c.(20791-20793)tCa>tTa	p.S6931L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6933	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S6931L(2)|p.S2564L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACAGACATTGATGTGGAAAC	0.458																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(20791-20793)TCA>TTA		mucin 16							278.0	258.0	264.0					19																	9066654		1995	4174	6169	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9066654G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20792C>T	19.37:g.9066654G>A	ENSP00000381008:p.Ser6931Leu						p.S6931L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	20996	-			6933			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.20792C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.159	0.585356	0.13749	.	.	ENSG00000181143	ENST00000397910	T	0.48836	0.8	2.74	1.69	0.24217	.	.	.	.	.	T	0.33904	0.0879	N	0.25647	0.755	.	.	.	P	0.35481	0.504	B	0.38755	0.281	T	0.43343	-0.9397	8	0.87932	D	0	.	5.4659	0.16642	0.1619:0.0:0.8381:0.0	.	6931	B5ME49	.	L	6931	ENSP00000381008:S6931L	ENSP00000381008:S6931L	S	-	2	0	MUC16	8927654	0.220000	0.23631	0.001000	0.08648	0.005000	0.04900	2.268000	0.43338	0.705000	0.31890	0.400000	0.26472	TCA		PASS	0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		128	331	128	331	---	---	---	---
ZNF846	162993	broad.mit.edu	37	19	9868197	9868197	+	Missense_Mutation	SNP	G	G	A	rs530751586	byFrequency	TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:9868197G>A	ENST00000397902.2	-	6	1969	c.1556C>T	c.(1555-1557)tCa>tTa	p.S519L	ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000588267.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	519					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.S519L(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						AGCAAGTGCTGAAGATTGAGT	0.368													N|||	13	0.00259585	0.0	0.0	5008	,	,		20171	0.0		0.0	False		,,,				2504	0.0133					uc002mmb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1555-1557)TCA>TTA		zinc finger protein 846							148.0	156.0	153.0					19																	9868197		2058	4238	6296	SO:0001583	missense	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9868197G>A	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.1556C>T	19.37:g.9868197G>A	ENSP00000380999:p.Ser519Leu					ZNF846_uc010xky.1_Intron|ZNF846_uc010xkz.1_Intron|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_Missense_Mutation_p.S390L	p.S519L	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN			6	2087	-			519			C2H2-type 14; degenerate.		A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	c.1556C>T	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	17.20	3.328764	0.60743	.	.	ENSG00000196605	ENST00000397902	T	0.07908	3.15	1.74	0.592	0.17471	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07458	0.0188	M	0.64080	1.96	0.09310	N	1	P	0.39551	0.678	B	0.33799	0.17	T	0.29579	-1.0007	9	0.51188	T	0.08	.	2.2248	0.03981	0.1875:0.0:0.5014:0.3111	.	519	Q147U1	ZN846_HUMAN	L	519	ENSP00000380999:S519L	ENSP00000380999:S519L	S	-	2	0	ZNF846	9729197	0.000000	0.05858	0.001000	0.08648	0.917000	0.54804	0.184000	0.16939	0.262000	0.21774	0.456000	0.33151	TCA		PASS	0.368	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		18	263	18	263	---	---	---	---
ZNF823	55552	broad.mit.edu	37	19	11833621	11833621	+	Missense_Mutation	SNP	G	G	A	rs375817352		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:11833621G>A	ENST00000341191.6	-	4	881	c.728C>T	c.(727-729)aCg>aTg	p.T243M	ZNF823_ENST00000545749.1_Missense_Mutation_p.T61M	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	243					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.T243M(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TTTCTCTCCCGTGTGGATTCT	0.418										HNSCC(68;0.2)																												uc002msm.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(727-729)ACG>ATG		ZFP-36 for a zinc finger protein		G	MET/THR	1,4399	2.1+/-5.4	0,1,2199	104.0	110.0	108.0		728	0.6	0.0	19		108	0,8594		0,0,4297	no	missense	ZNF823	NM_001080493.2	81	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	243/611	11833621	1,12993	2200	4297	6497	SO:0001583	missense	55552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11833621G>A	X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.728C>T	19.37:g.11833621G>A	ENSP00000340683:p.Thr243Met	HNSCC(68;0.2)				ZNF823_uc010xmd.1_Missense_Mutation_p.T61M|ZNF823_uc010dyi.1_Missense_Mutation_p.T199M	p.T243M	NM_001080493	NP_001073962	P16415	ZN823_HUMAN			4	854	-			243					A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP	ENST00000341191.6	37	c.728C>T	CCDS45981.1	.	.	.	.	.	.	.	.	.	.	g	16.44	3.124076	0.56613	2.27E-4	0.0	ENSG00000197933	ENST00000545749;ENST00000341191;ENST00000431998	T;T;T	0.26373	1.74;1.74;1.74	0.632	0.632	0.17705	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49592	0.1566	M	0.83223	2.63	0.28194	N	0.927611	D	0.89917	1.0	D	0.91635	0.999	T	0.36114	-0.9761	9	0.87932	D	0	.	8.7993	0.34898	0.0:0.0:1.0:0.0	.	243	P16415	ZN823_HUMAN	M	61;243;199	ENSP00000440162:T61M;ENSP00000340683:T243M;ENSP00000410654:T199M	ENSP00000340683:T243M	T	-	2	0	ZNF823	11694621	0.849000	0.29639	0.033000	0.17914	0.750000	0.42670	1.503000	0.35715	0.618000	0.30179	0.298000	0.19748	ACG		PASS	0.418	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		11	177	11	177	---	---	---	---
ZNF441	126068	broad.mit.edu	37	19	11892259	11892259	+	Silent	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:11892259C>T	ENST00000357901.4	+	4	1722	c.1620C>T	c.(1618-1620)ttC>ttT	p.F540F	ZNF441_ENST00000454339.2_Silent_p.F473F	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	540					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.F473F(1)|p.F540F(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGAAAGGCTTCAGGTCTTCCA	0.423																																						uc010dyj.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1618-1620)TTC>TTT		zinc finger protein 441							49.0	50.0	50.0					19																	11892259		2203	4300	6503	SO:0001819	synonymous_variant	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11892259C>T	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1620C>T	19.37:g.11892259C>T						ZNF441_uc002msn.3_Silent_p.F496F	p.F540F	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN			4	1814	+			540			C2H2-type 14.			Silent	SNP	ENST00000357901.4	37	c.1620C>T	CCDS12266.2																																																																																				PASS	0.423	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		59	38	59	38	---	---	---	---
ZNF564	163050	broad.mit.edu	37	19	12639413	12639413	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:12639413C>G	ENST00000339282.7	-	2	297	c.101G>C	c.(100-102)cGg>cCg	p.R34P	CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	34	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.R34P(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AAAGGTTTCCCGCATCACATC	0.438																																						uc002mty.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(100-102)CGG>CCG		zinc finger protein 564							107.0	111.0	109.0					19																	12639413		2201	4299	6500	SO:0001583	missense	163050				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12639413C>G	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.101G>C	19.37:g.12639413C>G	ENSP00000340004:p.Arg34Pro					ZNF709_uc002mtx.3_Intron	p.R34P	NM_144976	NP_659413	Q8TBZ8	ZN564_HUMAN			2	311	-			34			KRAB.		B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	c.101G>C	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.233744	0.22626	.	.	ENSG00000249709	ENST00000339282	T	0.01887	4.58	1.99	-3.98	0.04082	Krueppel-associated box (4);	.	.	.	.	T	0.04452	0.0122	L	0.39514	1.22	0.22330	N	0.999195	D	0.59767	0.986	P	0.61800	0.894	T	0.09378	-1.0677	9	0.56958	D	0.05	.	5.1955	0.15233	0.1772:0.5958:0.0:0.227	.	34	Q8TBZ8	ZN564_HUMAN	P	34	ENSP00000340004:R34P	ENSP00000340004:R34P	R	-	2	0	ZNF564	12500413	0.002000	0.14202	0.535000	0.28026	0.760000	0.43138	-1.218000	0.02976	-1.538000	0.01734	-0.417000	0.06048	CGG		PASS	0.438	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		72	106	72	106	---	---	---	---
NOTCH3	4854	broad.mit.edu	37	19	15281270	15281270	+	Silent	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:15281270G>C	ENST00000263388.2	-	27	5061	c.4986C>G	c.(4984-4986)gtC>gtG	p.V1662V		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1662					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.V1662V(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGGCCACCATGACACCCAGGA	0.662																																						uc002nan.2																			2	Substitution - coding silent(2)		lung(2)	lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21						c.(4984-4986)GTC>GTG		Notch homolog 3 precursor							35.0	41.0	39.0					19																	15281270		2202	4295	6497	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15281270G>C	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.4986C>G	19.37:g.15281270G>C							p.V1662V	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		27	5062	-			1662			Helical; (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.4986C>G	CCDS12326.1																																																																																				PASS	0.662	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		13	43	13	43	---	---	---	---
MVB12A	93343	broad.mit.edu	37	19	17531169	17531169	+	Silent	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:17531169C>T	ENST00000317040.7	+	2	1193	c.138C>T	c.(136-138)ttC>ttT	p.F46F	MVB12A_ENST00000528515.1_Silent_p.F46F|CTD-2521M24.6_ENST00000593957.1_RNA|MVB12A_ENST00000543795.1_Silent_p.F46F|MVB12A_ENST00000392702.2_Silent_p.F46F|CTD-2521M24.8_ENST00000597028.1_RNA|MVB12A_ENST00000529939.1_Silent_p.F46F			Q96EY5	MB12A_HUMAN	multivesicular body subunit 12A	46	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				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.F46F(1)									GCAAGAGCTTCGCGCAGAAAT	0.647																																						uc002ngo.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(136-138)TTC>TTT		family with sequence similarity 125, member A							70.0	75.0	73.0					19																	17531169		2203	4300	6503	SO:0001819	synonymous_variant	93343				protein transport	late endosome membrane|microtubule organizing center|nucleus	SH3 domain binding	g.chr19:17531169C>T	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.138C>T	19.37:g.17531169C>T						FAM125A_uc002ngn.1_Silent_p.F46F|FAM125A_uc002ngp.1_5'UTR|FAM125A_uc002ngq.1_5'Flank	p.F46F	NM_138401	NP_612410	Q96EY5	F125A_HUMAN			2	171	+			46			MABP.		Q96I18	Silent	SNP	ENST00000317040.7	37	c.138C>T	CCDS12359.1																																																																																				PASS	0.647	MVB12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388723.2	NM_138401		7	73	7	73	---	---	---	---
SUGP1	57794	broad.mit.edu	37	19	19413072	19413072	+	Splice_Site	SNP	A	A	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:19413072A>T	ENST00000247001.5	-	7	1235		c.e7+1		SUGP1_ENST00000585763.1_Intron	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						GGCCCCCCTTACCTGAATGCC	0.617																																						uc002nmh.2																			1	Unknown(1)		lung(1)		0						c.e7+1		splicing factor 4							169.0	142.0	151.0					19																	19413072		2203	4300	6503	SO:0001630	splice_region_variant	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19413072A>T	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.887+1T>A	19.37:g.19413072A>T						SF4_uc002nmf.2_Intron|SF4_uc002nmg.2_Splice_Site|SF4_uc002nmi.2_Splice_Site_p.S86_splice|SF4_uc002nmj.2_Splice_Site_p.S86_splice|SF4_uc010xqr.1_Splice_Site|SF4_uc010xqs.1_Splice_Site	p.S296_splice	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN			7	889	-								O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Splice_Site	SNP	ENST00000247001.5	37	c.887_splice	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.965955	0.74131	.	.	ENSG00000105705	ENST00000247001	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.582	0.61909	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SUGP1	19274072	1.000000	0.71417	0.935000	0.37517	0.743000	0.42351	9.124000	0.94394	1.904000	0.55121	0.460000	0.39030	.		PASS	0.617	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164	Intron	66	172	66	172	---	---	---	---
ATP13A1	57130	broad.mit.edu	37	19	19766937	19766937	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:19766937C>A	ENST00000357324.6	-	8	1165	c.1139G>T	c.(1138-1140)cGg>cTg	p.R380L	ATP13A1_ENST00000496082.1_5'Flank|ATP13A1_ENST00000291503.5_Missense_Mutation_p.R262L	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	380						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.R380L(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GACGTGCAGCCGGGAATCAGC	0.642																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	uc002nnh.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|central_nervous_system(1)	6						c.(1138-1140)CGG>CTG		ATPase type 13A1							94.0	92.0	93.0					19																	19766937		2203	4300	6503	SO:0001583	missense	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19766937C>A	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.1139G>T	19.37:g.19766937C>A	ENSP00000349877:p.Arg380Leu					ATP13A1_uc002nnf.3_5'Flank|ATP13A1_uc002nng.2_Missense_Mutation_p.R262L	p.R380L	NM_020410	NP_065143	Q9HD20	AT131_HUMAN			8	1167	-			380			Extracellular (Potential).		B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	c.1139G>T	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792666	0.31685	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	D;D	0.87809	-2.3;-2.3	4.47	3.39	0.38822	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.125508	0.53938	D	0.000053	T	0.78534	0.4298	L	0.52759	1.655	0.58432	D	0.999991	B;P	0.39809	0.142;0.689	B;B	0.30316	0.069;0.114	T	0.76531	-0.2925	10	0.66056	D	0.02	-25.106	6.2602	0.20895	0.0:0.7058:0.1916:0.1026	.	380;262	Q9HD20;Q9HD20-2	AT131_HUMAN;.	L	262;380	ENSP00000291503:R262L;ENSP00000349877:R380L	ENSP00000291503:R262L	R	-	2	0	ATP13A1	19627937	1.000000	0.71417	0.970000	0.41538	0.087000	0.18053	5.595000	0.67563	0.946000	0.37632	0.491000	0.48974	CGG		PASS	0.642	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		36	102	36	102	---	---	---	---
ZNF682	91120	broad.mit.edu	37	19	20133841	20133841	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:20133841C>A	ENST00000397165.2	-	3	358	c.198G>T	c.(196-198)aaG>aaT	p.K66N	ZNF682_ENST00000358523.5_Missense_Mutation_p.K34N|ZNF682_ENST00000397162.1_Missense_Mutation_p.K34N|ZNF682_ENST00000596019.1_Missense_Mutation_p.K66N|ZNF682_ENST00000593468.1_Missense_Mutation_p.K66N|ZNF682_ENST00000595736.1_Intron|ZNF682_ENST00000597972.1_Missense_Mutation_p.K72N	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	66	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.K66N(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TCTCATGTCTCTTCACATTCC	0.443																																						uc002noq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(196-198)AAG>AAT		zinc finger protein 682 isoform 1							154.0	161.0	159.0					19																	20133841		2107	4256	6363	SO:0001583	missense	91120				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20133841C>A	AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"""Zinc fingers, C2H2-type"", ""-"""	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.198G>T	19.37:g.20133841C>A	ENSP00000380351:p.Lys66Asn					ZNF682_uc002noo.2_Missense_Mutation_p.K34N|ZNF682_uc002nop.2_Missense_Mutation_p.K34N|ZNF682_uc010eck.2_Intron	p.K66N	NM_033196	NP_149973	O95780	ZN682_HUMAN			3	321	-			66			KRAB.		B3KU64|E9PFJ5|Q96JV9	Missense_Mutation	SNP	ENST00000397165.2	37	c.198G>T	CCDS42533.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921643	0.33908	.	.	ENSG00000197124	ENST00000397165;ENST00000397162;ENST00000358523	T;T;T	0.05996	3.45;3.36;3.36	0.898	-0.35	0.12606	Krueppel-associated box (1);	.	.	.	.	T	0.07458	0.0188	N	0.21142	0.635	0.09310	N	1	D	0.64830	0.994	P	0.56343	0.796	T	0.31752	-0.9932	9	0.59425	D	0.04	.	2.6962	0.05135	0.0:0.5546:0.0:0.4454	.	66	O95780	ZN682_HUMAN	N	66;34;34	ENSP00000380351:K66N;ENSP00000380348:K34N;ENSP00000351324:K34N	ENSP00000351324:K34N	K	-	3	2	ZNF682	19994841	0.041000	0.20044	0.261000	0.24466	0.265000	0.26407	-0.090000	0.11163	0.284000	0.22305	0.289000	0.19496	AAG		PASS	0.443	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462888.1	NM_033196		8	213	8	213	---	---	---	---
ZNF43	7594	broad.mit.edu	37	19	21990638	21990638	+	Missense_Mutation	SNP	T	T	G	rs145094878	byFrequency	TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:21990638T>G	ENST00000354959.4	-	4	2370	c.2201A>C	c.(2200-2202)tAc>tCc	p.Y734S	ZNF43_ENST00000598381.1_Missense_Mutation_p.Y728S|ZNF43_ENST00000594012.1_Missense_Mutation_p.Y728S|ZNF43_ENST00000595461.1_Missense_Mutation_p.Y728S	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	734					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.Y734S(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTCACATTTGTAGGGTTGCTC	0.353																																						uc002nqj.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(2200-2202)TAC>TCC		zinc finger protein 43							61.0	66.0	64.0					19																	21990638		2202	4299	6501	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21990638T>G	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.2201A>C	19.37:g.21990638T>G	ENSP00000347045:p.Tyr734Ser					ZNF43_uc010ecv.2_Missense_Mutation_p.Y728S|ZNF43_uc002nql.2_Missense_Mutation_p.Y728S|ZNF43_uc002nqm.2_Missense_Mutation_p.Y728S|ZNF43_uc002nqk.2_Missense_Mutation_p.Y664S	p.Y734S	NM_003423	NP_003414	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	4	2331	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	734			C2H2-type 21.		A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.2201A>C	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	T	6.553	0.470258	0.12461	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.25579	1.79	1.76	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44074	0.1276	M	0.71920	2.185	0.23784	N	0.996856	D	0.89917	1.0	D	0.85130	0.997	T	0.14671	-1.0464	9	0.87932	D	0	.	4.8818	0.13683	0.2725:0.0:0.0:0.7275	.	734	P17038	ZNF43_HUMAN	S	733;734	ENSP00000347045:Y734S	ENSP00000347045:Y734S	Y	-	2	0	ZNF43	21782478	0.000000	0.05858	0.006000	0.13384	0.077000	0.17291	0.471000	0.22100	0.808000	0.34231	0.254000	0.18369	TAC		PASS	0.353	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		69	93	69	93	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22363501	22363501	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:22363501C>T	ENST00000397121.2	-	3	1335	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	340					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.E340K(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CCGCATTCTTCACATTTGTAG	0.418																																						uc002nqs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1018-1020)GAA>AAA		zinc finger protein 676							76.0	83.0	80.0					19																	22363501		2180	4282	6462	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363501C>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1018G>A	19.37:g.22363501C>T	ENSP00000380310:p.Glu340Lys						p.E340K	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1336	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	340			C2H2-type 7.		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1018G>A	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	5.560	0.288269	0.10513	.	.	ENSG00000196109	ENST00000397121	T	0.07216	3.21	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05731	0.0150	L	0.41824	1.3	0.09310	N	1	B	0.25105	0.118	B	0.27796	0.083	T	0.45041	-0.9288	9	0.20046	T	0.44	.	2.5586	0.04766	0.4635:0.293:0.2435:0.0	.	340	Q8N7Q3	ZN676_HUMAN	K	340	ENSP00000380310:E340K	ENSP00000380310:E340K	E	-	1	0	ZNF676	22155341	0.000000	0.05858	0.018000	0.16275	0.018000	0.09664	-3.867000	0.00346	0.192000	0.20272	0.195000	0.17529	GAA		PASS	0.418	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		6	307	6	307	---	---	---	---
C19orf12	83636	broad.mit.edu	37	19	30199261	30199261	+	Silent	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:30199261C>T	ENST00000392278.2	-	2	219	c.93G>A	c.(91-93)aaG>aaA	p.K31K	C19orf12_ENST00000392275.1_Intron|C19orf12_ENST00000592153.1_Silent_p.K20K|C19orf12_ENST00000392276.1_Intron|C19orf12_ENST00000323670.9_Silent_p.K20K	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	31					cell death (GO:0008219)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.K31K(1)				Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			CCGCCTTCATCTTCCTCTCCC	0.617																																						uc002nsk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(58-60)AAG>AAA		hypothetical protein LOC83636 isoform 2							70.0	72.0	71.0					19																	30199261		1954	4150	6104	SO:0001819	synonymous_variant	83636					integral to membrane		g.chr19:30199261C>T	AK057185	CCDS12418.2, CCDS42542.1, CCDS59373.1, CCDS74325.1	19q13.11	2013-07-24			ENSG00000131943	ENSG00000131943			25443	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 4"""	614297	"""spastic paraplegia 43 (autosomal recessive)"""	SPG43		21981780, 23857908	Standard	NM_031448		Approved	MGC10922, DKFZP762D096, NBIA4	uc002nsj.3	Q9NSK7	OTTHUMG00000149838	ENST00000392278.2:c.93G>A	19.37:g.30199261C>T						C19orf12_uc002nsj.2_Silent_p.K31K|C19orf12_uc002nsl.2_Intron|C19orf12_uc002nsm.2_RNA	p.K20K	NM_031448	NP_113636	Q9NSK7	CS012_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)		2	491	-	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		20					B3KQ16|Q0D2Q0|Q6P4C5|Q9BSL7	Silent	SNP	ENST00000392278.2	37	c.60G>A	CCDS42542.1																																																																																				PASS	0.617	C19orf12-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313509.2	NM_031448		12	201	12	201	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30936591	30936591	+	Missense_Mutation	SNP	G	G	T	rs535991582		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:30936591G>T	ENST00000355537.3	+	2	2269	c.2122G>T	c.(2122-2124)Ggg>Tgg	p.G708W		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	708					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.G708W(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTCCCAGACCGGGAGTGCCCA	0.677																																						uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(2122-2124)GGG>TGG		zinc finger protein 536							17.0	20.0	19.0					19																	30936591		2173	4242	6415	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936591G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2122G>T	19.37:g.30936591G>T	ENSP00000347730:p.Gly708Trp					ZNF536_uc010edd.1_Missense_Mutation_p.G708W	p.G708W	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	2260	+	Esophageal squamous(110;0.0834)		708					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2122G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494287	0.64186	.	.	ENSG00000198597	ENST00000355537	T	0.11712	2.75	5.78	5.78	0.91487	.	0.049908	0.85682	D	0.000000	T	0.23611	0.0571	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01688	-1.1295	10	0.59425	D	0.04	-32.0018	20.0119	0.97458	0.0:0.0:1.0:0.0	.	708;708	A7E228;O15090	.;ZN536_HUMAN	W	708	ENSP00000347730:G708W	ENSP00000347730:G708W	G	+	1	0	ZNF536	35628431	1.000000	0.71417	0.930000	0.37139	0.875000	0.50365	9.378000	0.97191	2.706000	0.92434	0.655000	0.94253	GGG		PASS	0.677	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		18	22	18	22	---	---	---	---
ZNF181	339318	broad.mit.edu	37	19	35231986	35231986	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:35231986G>C	ENST00000492450.1	+	4	789	c.700G>C	c.(700-702)Gag>Cag	p.E234Q	ZNF181_ENST00000459757.2_Missense_Mutation_p.E233Q|ZNF181_ENST00000392232.3_Missense_Mutation_p.E278Q			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	234					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.E170Q(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTGTAATAGAGAGAAAATCTA	0.428																																						uc002nvu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(700-702)GAG>CAG		zinc finger protein 181 isoform 1							105.0	118.0	114.0					19																	35231986		2190	4296	6486	SO:0001583	missense	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35231986G>C	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.700G>C	19.37:g.35231986G>C	ENSP00000420727:p.Glu234Gln					ZNF181_uc010xsa.1_Missense_Mutation_p.E233Q|ZNF181_uc010xsb.1_Missense_Mutation_p.E233Q|ZNF181_uc010xsc.1_Missense_Mutation_p.E169Q	p.E234Q	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1163	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		234					B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	c.700G>C	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	G	6.259	0.415848	0.11870	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	T;T;T	0.07567	3.18;3.18;3.18	2.89	2.89	0.33648	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16727	0.0402	M	0.83692	2.655	0.26889	N	0.967366	P;B	0.48764	0.915;0.016	B;B	0.44133	0.442;0.008	T	0.10359	-1.0633	9	0.87932	D	0	.	11.9919	0.53180	0.0:0.0:1.0:0.0	.	233;234	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	Q	278;233;234;233	ENSP00000376065:E278Q;ENSP00000420727:E234Q;ENSP00000419435:E233Q	ENSP00000376065:E278Q	E	+	1	0	ZNF181	39923826	1.000000	0.71417	0.947000	0.38551	0.038000	0.13279	4.080000	0.57620	1.922000	0.55676	0.491000	0.48974	GAG		PASS	0.428	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		21	480	21	480	---	---	---	---
ZNF420	147923	broad.mit.edu	37	19	37619207	37619207	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:37619207G>C	ENST00000337995.3	+	5	1529	c.1314G>C	c.(1312-1314)caG>caC	p.Q438H	ZNF420_ENST00000304239.7_Missense_Mutation_p.Q438H|ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q438H(1)		breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACGACACCAGAGGATTCATA	0.418																																						uc002ofl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1312-1314)CAG>CAC		zinc finger protein 420							69.0	68.0	69.0					19																	37619207		2203	4300	6503	SO:0001583	missense	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37619207G>C	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1314G>C	19.37:g.37619207G>C	ENSP00000338770:p.Gln438His						p.Q438H	NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1529	+			438			C2H2-type 11.		B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	c.1314G>C	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.182213	0.38511	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	T;T	0.36520	1.25;1.25	4.03	-1.94	0.07571	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46229	0.1382	L	0.46947	1.48	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.38714	-0.9648	9	0.49607	T	0.09	.	9.3285	0.38008	0.4966:0.0:0.5034:0.0	.	438	Q8TAQ5	ZN420_HUMAN	H	438	ENSP00000306102:Q438H;ENSP00000338770:Q438H	ENSP00000306102:Q438H	Q	+	3	2	ZNF420	42311047	0.000000	0.05858	0.928000	0.36995	0.984000	0.73092	-1.546000	0.02188	-0.470000	0.06901	-0.218000	0.12543	CAG		PASS	0.418	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		35	133	35	133	---	---	---	---
ZNF420	147923	broad.mit.edu	37	19	37619795	37619795	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:37619795G>C	ENST00000337995.3	+	5	2117	c.1902G>C	c.(1900-1902)caG>caC	p.Q634H	ZNF420_ENST00000304239.7_Intron|ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000586540.1_3'UTR	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	634					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q634H(1)		breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCGGCATCAGAGAATTCATA	0.418																																						uc002ofl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1900-1902)CAG>CAC		zinc finger protein 420							67.0	66.0	66.0					19																	37619795		2203	4299	6502	SO:0001583	missense	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37619795G>C	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1902G>C	19.37:g.37619795G>C	ENSP00000338770:p.Gln634His						p.Q634H	NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	2117	+			634			C2H2-type 18.		B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	c.1902G>C	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	G	6.619	0.482553	0.12581	.	.	ENSG00000197050	ENST00000337995	T	0.07567	3.18	4.46	-1.57	0.08506	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09423	0.0232	M	0.78223	2.4	0.39979	D	0.974894	B	0.12630	0.006	B	0.11329	0.006	T	0.09729	-1.0661	8	.	.	.	.	4.835	0.13460	0.5306:0.0:0.3124:0.157	.	634	Q8TAQ5	ZN420_HUMAN	H	634	ENSP00000338770:Q634H	.	Q	+	3	2	ZNF420	42311635	0.000000	0.05858	0.054000	0.19295	0.888000	0.51559	0.550000	0.23345	-0.338000	0.08413	0.655000	0.94253	CAG		PASS	0.418	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		33	144	33	144	---	---	---	---
SIPA1L3	23094	broad.mit.edu	37	19	38652941	38652941	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:38652941G>A	ENST00000222345.6	+	14	4219	c.3710G>A	c.(3709-3711)gGa>gAa	p.G1237E		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1237					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.G1237E(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCATAGCCGGAAGCAGCGGG	0.612																																						uc002ohk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3709-3711)GGA>GAA		signal-induced proliferation-associated 1 like							90.0	78.0	82.0					19																	38652941		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38652941G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3710G>A	19.37:g.38652941G>A	ENSP00000222345:p.Gly1237Glu						p.G1237E	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		14	4219	+			1237					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.3710G>A	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604501	0.46423	.	.	ENSG00000105738	ENST00000222345	T	0.40476	1.03	4.74	1.19	0.21007	.	0.135991	0.48286	D	0.000194	T	0.42562	0.1208	L	0.40543	1.245	0.32627	N	0.522493	D	0.76494	0.999	D	0.66847	0.947	T	0.48736	-0.9009	10	0.02654	T	1	-6.5943	9.0402	0.36314	0.0813:0.4196:0.4991:0.0	.	1237	O60292	SI1L3_HUMAN	E	1237	ENSP00000222345:G1237E	ENSP00000222345:G1237E	G	+	2	0	SIPA1L3	43344781	1.000000	0.71417	0.150000	0.22450	0.689000	0.40095	2.342000	0.43992	0.415000	0.25817	0.563000	0.77884	GGA		PASS	0.612	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		10	81	10	81	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38990398	38990398	+	Missense_Mutation	SNP	T	T	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:38990398T>A	ENST00000359596.3	+	44	7151	c.7151T>A	c.(7150-7152)aTc>aAc	p.I2384N	RYR1_ENST00000355481.4_Missense_Mutation_p.I2384N|RYR1_ENST00000360985.3_Missense_Mutation_p.I2384N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2384	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.I2384N(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GAAGAGGCCATCCGCATCTCC	0.692																																						uc002oit.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(7150-7152)ATC>AAC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						28.0	26.0	27.0					19																	38990398		2202	4295	6497	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38990398T>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7151T>A	19.37:g.38990398T>A	ENSP00000352608:p.Ile2384Asn					RYR1_uc002oiu.2_Missense_Mutation_p.I2384N|RYR1_uc002oiv.1_5'UTR	p.I2384N	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		44	7281	+	all_cancers(60;7.91e-06)		2384			Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.7151T>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.139246	0.56936	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98531	-4.98;-4.98;-4.98	3.95	3.95	0.45737	.	0.000000	0.64402	U	0.000002	D	0.98083	0.9368	L	0.49126	1.545	0.50467	D	0.999879	D;D	0.69078	0.997;0.995	D;D	0.80764	0.994;0.986	D	0.97451	1.0028	10	0.33940	T	0.23	.	12.6924	0.56982	0.0:0.0:0.0:1.0	.	2384;2384	P21817-2;P21817	.;RYR1_HUMAN	N	2384	ENSP00000352608:I2384N;ENSP00000347667:I2384N;ENSP00000354254:I2384N	ENSP00000347667:I2384N	I	+	2	0	RYR1	43682238	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.754000	0.85163	1.659000	0.50751	0.241000	0.17934	ATC		PASS	0.692	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			20	15	20	15	---	---	---	---
ARHGAP35	2909	broad.mit.edu	37	19	47422551	47422551	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:47422551G>T	ENST00000404338.3	+	1	619	c.619G>T	c.(619-621)Gag>Tag	p.E207*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	207					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.E207*(2)									CGAAGGTGTTGAGCGGTACAT	0.443																																						uc010ekv.2																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(1)	1						c.(619-621)GAG>TAG		glucocorticoid receptor DNA binding factor 1							107.0	102.0	104.0					19																	47422551		1919	4127	6046	SO:0001587	stop_gained	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47422551G>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.619G>T	19.37:g.47422551G>T	ENSP00000385720:p.Glu207*						p.E207*	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	619	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	207					A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	ENST00000404338.3	37	c.619G>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	36	5.945493	0.97134	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-35.8427	18.6661	0.91491	0.0:0.0:1.0:0.0	.	.	.	.	X	207	.	ENSP00000324820:E207X	E	+	1	0	ARHGAP35	52114391	1.000000	0.71417	0.964000	0.40570	0.990000	0.78478	9.869000	0.99810	2.711000	0.92665	0.655000	0.94253	GAG		PASS	0.443	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		73	7	73	7	---	---	---	---
ARHGAP35	2909	broad.mit.edu	37	19	47422564	47422564	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:47422564G>C	ENST00000404338.3	+	1	632	c.632G>C	c.(631-633)aGa>aCa	p.R211T		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	211					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.R211T(2)									CGGTACATTAGAGATGCACAT	0.448																																						uc010ekv.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(631-633)AGA>ACA		glucocorticoid receptor DNA binding factor 1							107.0	102.0	104.0					19																	47422564		1915	4128	6043	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47422564G>C	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.632G>C	19.37:g.47422564G>C	ENSP00000385720:p.Arg211Thr						p.R211T	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	632	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	211					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.632G>C	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289169	0.59976	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.76060	-0.99	5.87	5.87	0.94306	.	0.051890	0.64402	D	0.000001	T	0.73613	0.3609	N	0.21617	0.685	0.52501	D	0.999955	P	0.50369	0.934	P	0.51453	0.67	T	0.76854	-0.2805	10	0.87932	D	0	-20.3131	18.9906	0.92789	0.0:0.0:1.0:0.0	.	211	Q9NRY4-2	.	T	211	ENSP00000385720:R211T	ENSP00000324820:R211T	R	+	2	0	ARHGAP35	52114404	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.295000	0.78780	2.780000	0.95670	0.655000	0.94253	AGA		PASS	0.448	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		83	6	83	6	---	---	---	---
CRX	1406	broad.mit.edu	37	19	48339523	48339523	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:48339523G>A	ENST00000221996.7	+	3	330	c.124G>A	c.(124-126)Gag>Aag	p.E42K	CRX_ENST00000539067.1_Missense_Mutation_p.E42K|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	42			E -> K (found in a patient with LCA7). {ECO:0000269|PubMed:21602930}.		circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E42K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		GCAGCGGCGGGAGCGCACCAC	0.652																																					Pancreas(57;461 1196 22201 40716 47188)	uc002phq.3																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(124-126)GAG>AAG		cone-rod homeobox protein							55.0	64.0	61.0					19																	48339523		2203	4300	6503	SO:0001583	missense	1406				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48339523G>A	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.124G>A	19.37:g.48339523G>A	ENSP00000221996:p.Glu42Lys					CRX_uc010elm.1_RNA	p.E42K	NM_000554	NP_000545	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	3	328	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	42			Homeobox.		Q0QD45	Missense_Mutation	SNP	ENST00000221996.7	37	c.124G>A	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331921	0.60853	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.95518	-3.73;-3.73	3.67	3.67	0.42095	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.94437	0.8210	N	0.12961	0.28	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.94904	0.8059	10	0.62326	D	0.03	-14.4374	12.8982	0.58111	0.0:0.0:1.0:0.0	.	42	O43186	CRX_HUMAN	K	42	ENSP00000221996:E42K;ENSP00000445565:E42K	ENSP00000221996:E42K	E	+	1	0	CRX	53031335	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	4.902000	0.63266	1.883000	0.54544	0.205000	0.17691	GAG		PASS	0.652	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554		22	113	22	113	---	---	---	---
CABP5	56344	broad.mit.edu	37	19	48537475	48537475	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:48537475C>G	ENST00000293255.2	-	5	623	c.493G>C	c.(493-495)Gaa>Caa	p.E165Q		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	165	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)	p.E165Q(1)		endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		ATGTCACCTTCAAAGTCAACT	0.597																																						uc002phu.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(493-495)GAA>CAA		calcium binding protein 5							48.0	39.0	42.0					19																	48537475		2203	4300	6503	SO:0001583	missense	56344				signal transduction	cytoplasm	calcium ion binding	g.chr19:48537475C>G	AF169159	CCDS12709.1	19q13.33	2014-08-12			ENSG00000105507	ENSG00000105507		"""EF-hand domain containing"""	13714	protein-coding gene	gene with protein product		607315	"""calcium binding protein 3"""	CABP3		10625670	Standard	NM_019855		Approved	CaBP3	uc002phu.2	Q9NP86	OTTHUMG00000183139	ENST00000293255.2:c.493G>C	19.37:g.48537475C>G	ENSP00000293255:p.Glu165Gln						p.E165Q	NM_019855	NP_062829	Q9NP86	CABP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)	5	618	-		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	165			EF-hand 4.|3 (Potential).		A0AUY4	Missense_Mutation	SNP	ENST00000293255.2	37	c.493G>C	CCDS12709.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414947	0.83449	.	.	ENSG00000105507	ENST00000293255	T	0.74106	-0.81	5.01	5.01	0.66863	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78020	0.4218	L	0.49256	1.55	0.58432	D	0.999996	P	0.52463	0.953	P	0.52159	0.691	T	0.80917	-0.1168	10	0.87932	D	0	.	16.1949	0.82021	0.0:1.0:0.0:0.0	.	165	Q9NP86	CABP5_HUMAN	Q	165	ENSP00000293255:E165Q	ENSP00000293255:E165Q	E	-	1	0	CABP5	53229287	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	7.063000	0.76714	2.509000	0.84616	0.561000	0.74099	GAA		PASS	0.597	CABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465212.1	NM_019855		5	78	5	78	---	---	---	---
KLK3	354	broad.mit.edu	37	19	51361393	51361393	+	Silent	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:51361393C>G	ENST00000326003.2	+	3	356	c.315C>G	c.(313-315)ctC>ctG	p.L105L	KLK3_ENST00000595952.1_Intron|KLK3_ENST00000593997.1_Silent_p.L105L|KLK3_ENST00000360617.3_Silent_p.L105L|KLK3_ENST00000597483.1_Intron	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	105	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.L105L(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		ATATGAGCCTCCTGAAGAATC	0.572																																					Colon(185;1767 2023 13025 30120 37630)	uc002pts.1																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						c.(313-315)CTC>CTG		prostate specific antigen isoform 3							93.0	76.0	82.0					19																	51361393		2203	4300	6503	SO:0001819	synonymous_variant	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51361393C>G	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.315C>G	19.37:g.51361393C>G						KLK3_uc010ycj.1_Silent_p.L105L|KLK3_uc002ptr.1_Intron|KLK3_uc010eof.1_Intron	p.L105L	NM_001030047	NP_001025218	P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	3	356	+		all_neural(266;0.057)	105			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Silent	SNP	ENST00000326003.2	37	c.315C>G	CCDS12807.1																																																																																				PASS	0.572	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		24	51	24	51	---	---	---	---
SIGLEC14	100049587	broad.mit.edu	37	19	52147258	52147258	+	Silent	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:52147258C>A	ENST00000360844.6	-	5	827	c.786G>T	c.(784-786)gtG>gtT	p.V262V	SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	262	Ig-like C2-type 2.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.V255V(1)|p.V262V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		CCTGGATGGGCACCGACATGC	0.607																																						uc002pxf.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(784-786)GTG>GTT		sialic acid binding Ig-like lectin 14 precursor							26.0	31.0	29.0					19																	52147258		1929	4091	6020	SO:0001819	synonymous_variant	100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52147258C>A	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.786G>T	19.37:g.52147258C>A							p.V262V	NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	5	906	-		all_neural(266;0.0299)	262			Extracellular (Potential).|Ig-like C2-type 2.		Q6UXG0	Silent	SNP	ENST00000360844.6	37	c.786G>T	CCDS42604.1																																																																																				PASS	0.607	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		22	40	22	40	---	---	---	---
ZNF577	84765	broad.mit.edu	37	19	52376027	52376027	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:52376027C>G	ENST00000301399.5	-	7	1581	c.1216G>C	c.(1216-1218)Gag>Cag	p.E406Q	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000420592.1_Missense_Mutation_p.E347Q|ZNF577_ENST00000451628.2_Missense_Mutation_p.E347Q	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	406					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.E399Q(1)		breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GTCTTTTGCTCTTGTATGAGT	0.443																																						uc010yde.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1216-1218)GAG>CAG		zinc finger protein 577 isoform a							99.0	104.0	102.0					19																	52376027		2203	4300	6503	SO:0001583	missense	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52376027C>G	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.1216G>C	19.37:g.52376027C>G	ENSP00000301399:p.Glu406Gln					ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Missense_Mutation_p.E347Q|ZNF577_uc002pxv.2_Missense_Mutation_p.E399Q|ZNF577_uc002pxw.2_Missense_Mutation_p.E340Q	p.E406Q	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	7	1607	-		all_neural(266;0.0602)	406					A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	c.1216G>C	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	14.25	2.480666	0.44044	.	.	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.06687	3.28;3.33;3.33;3.27	3.06	0.819	0.18785	.	.	.	.	.	T	0.08582	0.0213	L	0.52573	1.65	0.09310	N	1	P;P	0.43701	0.718;0.815	B;B	0.39935	0.126;0.314	T	0.22452	-1.0216	9	0.87932	D	0	.	6.7002	0.23221	0.0:0.7586:0.0:0.2414	.	406;347	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	Q	406;347;347;406	ENSP00000301399:E406Q;ENSP00000413476:E347Q;ENSP00000389652:E347Q;ENSP00000404509:E406Q	ENSP00000301399:E406Q	E	-	1	0	ZNF577	57067839	0.091000	0.21658	0.000000	0.03702	0.000000	0.00434	2.593000	0.46180	0.135000	0.18707	-0.150000	0.13652	GAG		PASS	0.443	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		9	350	9	350	---	---	---	---
ZNF614	80110	broad.mit.edu	37	19	52519616	52519616	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:52519616C>T	ENST00000270649.6	-	5	1779	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	412					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.R412H(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AACGAGAGTGCGTTTGACAGT	0.423																																						uc002pyj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5						c.(1234-1236)CGC>CAC		zinc finger protein 614							175.0	169.0	171.0					19																	52519616		2203	4300	6503	SO:0001583	missense	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52519616C>T	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.1235G>A	19.37:g.52519616C>T	ENSP00000270649:p.Arg412His					ZNF614_uc002pyi.3_Intron|ZNF614_uc010epj.2_Missense_Mutation_p.R115H	p.R412H	NM_025040	NP_079316	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1637	-		all_neural(266;0.0505)	412			C2H2-type 7.		Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	c.1235G>A	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.470603	0.26423	.	.	ENSG00000142556	ENST00000270649	T	0.10099	2.91	3.38	-4.33	0.03677	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06962	0.0177	L	0.31157	0.91	0.09310	N	1	D	0.61697	0.99	B	0.41299	0.353	T	0.31696	-0.9934	9	0.59425	D	0.04	.	7.912	0.29796	0.0:0.3291:0.4774:0.1935	.	412	Q8N883	ZN614_HUMAN	H	412	ENSP00000270649:R412H	ENSP00000270649:R412H	R	-	2	0	ZNF614	57211428	0.000000	0.05858	0.000000	0.03702	0.959000	0.62525	-1.354000	0.02614	-0.482000	0.06782	0.563000	0.77884	CGC		PASS	0.423	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		82	549	82	549	---	---	---	---
ZNF836	162962	broad.mit.edu	37	19	52659761	52659761	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:52659761C>T	ENST00000322146.8	-	5	1696	c.1175G>A	c.(1174-1176)gGa>gAa	p.G392E	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.G392E	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	392					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.G392E(2)		endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AAAGGACTTTCCACATATGTT	0.398																																						uc010ydi.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1174-1176)GGA>GAA		zinc finger protein 836							94.0	99.0	97.0					19																	52659761		2186	4294	6480	SO:0001583	missense	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52659761C>T	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1175G>A	19.37:g.52659761C>T	ENSP00000325038:p.Gly392Glu					ZNF836_uc010ydj.1_Missense_Mutation_p.G392E	p.G392E	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN			5	1549	-			392			C2H2-type 7.			Missense_Mutation	SNP	ENST00000322146.8	37	c.1175G>A	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	c	12.66	2.005599	0.35415	.	.	ENSG00000196267	ENST00000322146	T	0.58210	0.35	1.89	-0.613	0.11594	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.60612	0.2282	M	0.69463	2.115	0.18873	N	0.999984	D	0.64830	0.994	D	0.65233	0.933	T	0.49263	-0.8958	9	0.45353	T	0.12	.	3.5077	0.07696	0.0:0.5095:0.2148:0.2757	.	392	Q6ZNA1	ZN836_HUMAN	E	392	ENSP00000325038:G392E	ENSP00000325038:G392E	G	-	2	0	ZNF836	57351573	0.093000	0.21703	0.000000	0.03702	0.229000	0.25112	0.456000	0.21859	-0.221000	0.09973	-0.702000	0.03669	GGA		PASS	0.398	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		5	147	5	147	---	---	---	---
ZNF28	7576	broad.mit.edu	37	19	53303166	53303166	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:53303166G>A	ENST00000457749.2	-	4	2051	c.1932C>T	c.(1930-1932)ttC>ttT	p.F644F	ZNF28_ENST00000360272.4_Silent_p.F591F|ZNF28_ENST00000438150.2_Silent_p.F591F|ZNF28_ENST00000414252.2_Silent_p.F591F	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	644					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.F591F(2)|p.F644F(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ACATCTGACTGAAGGTCTTGC	0.433																																						uc002qad.2																			3	Substitution - coding silent(3)		lung(3)	skin(1)	1						c.(1930-1932)TTC>TTT		zinc finger protein 28							194.0	183.0	187.0					19																	53303166		2203	4300	6503	SO:0001819	synonymous_variant	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303166G>A	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1932C>T	19.37:g.53303166G>A						ZNF28_uc002qac.2_Silent_p.F591F|ZNF28_uc010eqe.2_Silent_p.F590F	p.F644F	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	4	2052	-			644			C2H2-type 16.		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Silent	SNP	ENST00000457749.2	37	c.1932C>T	CCDS33093.2																																																																																				PASS	0.433	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		19	600	19	600	---	---	---	---
ZNF816	125893	broad.mit.edu	37	19	53454623	53454623	+	Silent	SNP	C	C	T	rs529254404	byFrequency	TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:53454623C>T	ENST00000357666.4	-	5	705	c.405G>A	c.(403-405)ttG>ttA	p.L135L	ZNF816_ENST00000391786.2_3'UTR|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Silent_p.L135L	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	135					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.L135F(1)|p.L135L(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TACTACCAGTCAACTTTTTGA	0.413													t|||	2	0.000399361	0.0015	0.0	5008	,	,		18776	0.0		0.0	False		,,,				2504	0.0					uc002qal.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(403-405)TTG>TTA		zinc finger protein 816A							167.0	172.0	171.0					19																	53454623		2203	4300	6503	SO:0001819	synonymous_variant	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53454623C>T	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.405G>A	19.37:g.53454623C>T						ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Silent_p.L119L	p.L135L	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN		GBM - Glioblastoma multiforme(134;0.0313)	5	706	-			135					A8K7H5|Q3KR39|Q659B3	Silent	SNP	ENST00000357666.4	37	c.405G>A	CCDS33096.1																																																																																				PASS	0.413	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		29	682	29	682	---	---	---	---
ZNF415	55786	broad.mit.edu	37	19	53612472	53612472	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:53612472C>T	ENST00000500065.4	-	4	1159	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.E263K|ZNF415_ENST00000455735.2_Missense_Mutation_p.E324K|ZNF415_ENST00000448501.1_Missense_Mutation_p.E324K|ZNF415_ENST00000421033.1_Missense_Mutation_p.E288K|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.E46K|ZNF415_ENST00000243643.4_Missense_Mutation_p.E276K	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E276K(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CTGTCACATTCATTACATTTG	0.408																																						uc002qax.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(970-972)GAA>AAA		RecName: Full=Zinc finger protein 415;							95.0	84.0	88.0					19																	53612472		2203	4300	6503	SO:0001583	missense	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53612472C>T	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.826G>A	19.37:g.53612472C>T	ENSP00000439435:p.Glu276Lys					ZNF415_uc002qat.2_Missense_Mutation_p.E288K|ZNF415_uc002qaw.2_Missense_Mutation_p.E276K|ZNF415_uc010yds.1_Missense_Mutation_p.E276K|ZNF415_uc010ydt.1_Missense_Mutation_p.E276K|ZNF415_uc002qau.2_Missense_Mutation_p.E263K|ZNF415_uc002qav.2_Missense_Mutation_p.E288K|ZNF415_uc002qba.2_Missense_Mutation_p.E46K|ZNF415_uc002qay.2_Missense_Mutation_p.E263K|ZNF415_uc002qaz.2_Missense_Mutation_p.E324K	p.E324K	NR_028343		Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	1319	-			324			C2H2-type 3.		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	c.970G>A	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646153	0.67358	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;3.2	2.78	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27765	0.0683	L	0.35288	1.05	0.09310	N	1	P;P;P;D;P;P	0.59767	0.683;0.827;0.845;0.986;0.886;0.555	B;P;B;D;B;B	0.70227	0.121;0.668;0.386;0.968;0.402;0.223	T	0.09122	-1.0689	9	0.66056	D	0.02	.	10.8581	0.46810	0.0:0.8061:0.1939:0.0	.	276;324;324;276;263;288	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	K	276;276;324;288;324;263	ENSP00000243643:E276K;ENSP00000439435:E276K;ENSP00000396492:E324K;ENSP00000395055:E288K;ENSP00000388787:E324K;ENSP00000414601:E263K	ENSP00000243643:E276K	E	-	1	0	ZNF415	58304284	0.000000	0.05858	0.003000	0.11579	0.568000	0.35870	-1.326000	0.02685	1.569000	0.49696	0.491000	0.48974	GAA		PASS	0.408	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		6	200	6	200	---	---	---	---
ZNF765	91661	broad.mit.edu	37	19	53911332	53911332	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:53911332C>T	ENST00000396408.3	+	4	641	c.524C>T	c.(523-525)tCa>tTa	p.S175L	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	175					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.S175L(1)		endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TCCTTGGTTTCAACAGCCCAA	0.368																																						uc010ydx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(523-525)TCA>TTA		zinc finger protein 765							81.0	82.0	82.0					19																	53911332		2199	4299	6498	SO:0001583	missense	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53911332C>T	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.524C>T	19.37:g.53911332C>T	ENSP00000379689:p.Ser175Leu					ZNF765_uc002qbm.2_Missense_Mutation_p.S175L|ZNF765_uc002qbn.2_Intron	p.S175L	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	6	851	+			175					A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	c.524C>T	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534243	0.27475	.	.	ENSG00000196417	ENST00000396408;ENST00000505866	T;T	0.07688	3.17;3.57	0.588	-0.822	0.10819	.	.	.	.	.	T	0.05777	0.0151	L	0.28776	0.89	0.09310	N	1	B	0.23854	0.092	B	0.30105	0.111	T	0.45877	-0.9231	8	.	.	.	.	3.9397	0.09321	0.0:0.4311:0.0:0.5689	.	175	Q7L2R6	ZN765_HUMAN	L	175;122	ENSP00000379689:S175L;ENSP00000421579:S122L	.	S	+	2	0	ZNF765	58603144	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.917000	0.04025	-0.343000	0.08351	0.174000	0.16983	TCA		PASS	0.368	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		10	236	10	236	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54664048	54664048	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:54664048G>C	ENST00000376591.4	-	15	2265	c.2134C>G	c.(2134-2136)Ctt>Gtt	p.L712V	TMC4_ENST00000416963.1_Missense_Mutation_p.L294V|TMC4_ENST00000301187.4_Missense_Mutation_p.L706V|LENG1_ENST00000222224.3_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	712					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L706V(1)|p.L294V(1)		breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGGGGTCAAAGAGCCGGTTTG	0.582																																						uc010erf.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(2134-2136)CTT>GTT		transmembrane channel-like 4 isoform 1							83.0	93.0	90.0					19																	54664048		2203	4300	6503	SO:0001583	missense	147798					integral to membrane		g.chr19:54664048G>C	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.2134C>G	19.37:g.54664048G>C	ENSP00000365776:p.Leu712Val					LENG1_uc002qdm.2_5'Flank|TMC4_uc002qdn.2_Missense_Mutation_p.L426V|TMC4_uc002qdo.2_Missense_Mutation_p.L706V	p.L712V	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN			15	2266	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		712			Cytoplasmic (Potential).		Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	c.2134C>G	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.744268	0.30865	.	.	ENSG00000167608	ENST00000301187;ENST00000416963;ENST00000376591	T;T;T	0.73152	-0.69;-0.72;-0.68	4.42	1.07	0.20283	.	0.735969	0.12206	N	0.489807	T	0.44850	0.1313	N	0.08118	0	0.09310	N	1	P;P;B	0.40534	0.598;0.72;0.419	B;B;B	0.35353	0.099;0.201;0.201	T	0.33879	-0.9851	10	0.62326	D	0.03	-0.7634	6.4415	0.21853	0.314:0.0:0.686:0.0	.	712;706;294	Q7Z404;Q7Z404-1;Q7Z404-3	TMC4_HUMAN;.;.	V	706;294;712	ENSP00000301187:L706V;ENSP00000405023:L294V;ENSP00000365776:L712V	ENSP00000301187:L706V	L	-	1	0	TMC4	59355860	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.351000	0.20096	0.230000	0.21059	-0.143000	0.13931	CTT		PASS	0.582	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			38	304	38	304	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55143120	55143120	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:55143120G>A	ENST00000396331.1	+	5	597	c.240G>A	c.(238-240)aaG>aaA	p.K80K	LILRB1_ENST00000324602.7_Silent_p.K80K|LILRB1_ENST00000396317.1_Silent_p.K80K|LILRB1_ENST00000448689.1_Silent_p.K80K|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000418536.2_Silent_p.K80K|LILRB1_ENST00000396315.1_Silent_p.K80K|LILRB1_ENST00000396327.3_Silent_p.K80K|LILRB1_ENST00000427581.2_Silent_p.K116K|LILRB1_ENST00000396332.4_Silent_p.K80K|LILRB1_ENST00000396321.2_Silent_p.K80K|LILRB1_ENST00000434867.2_Silent_p.K80K	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	80	Ig-like C2-type 1.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.K80K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TTGTGAAGAAGGGCCAGTTCC	0.562										HNSCC(37;0.09)																												uc002qgj.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(238-240)AAG>AAA		leukocyte immunoglobulin-like receptor,							179.0	167.0	171.0					19																	55143120		2203	4300	6503	SO:0001819	synonymous_variant	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143120G>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.240G>A	19.37:g.55143120G>A		HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Silent_p.K80K|LILRB1_uc002qgk.2_Silent_p.K80K|LILRB1_uc002qgm.2_Silent_p.K80K|LILRB1_uc010erq.2_Silent_p.K80K|LILRB1_uc010err.2_RNA	p.K80K	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	5	580	+			80			Ig-like C2-type 1.|Extracellular (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	c.240G>A	CCDS42617.1																																																																																				PASS	0.562	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			143	139	143	139	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57326411	57326411	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:57326411G>T	ENST00000326441.9	-	10	3762	c.3399C>A	c.(3397-3399)tgC>tgA	p.C1133*	PEG3_ENST00000593695.1_Nonsense_Mutation_p.C1007*|PEG3_ENST00000423103.2_Nonsense_Mutation_p.C1133*|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Nonsense_Mutation_p.C1009*|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1133					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.C1133*(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGTCAACCAGGCACTTCCTGC	0.478																																						uc002qnu.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(3397-3399)TGC>TGA		paternally expressed 3 isoform 1							163.0	147.0	152.0					19																	57326411		2203	4300	6503	SO:0001587	stop_gained	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326411G>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3399C>A	19.37:g.57326411G>T	ENSP00000326581:p.Cys1133*					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Nonsense_Mutation_p.C1104*|PEG3_uc002qnv.2_Nonsense_Mutation_p.C1133*|PEG3_uc002qnw.2_Nonsense_Mutation_p.C1009*|PEG3_uc002qnx.2_Nonsense_Mutation_p.C1007*|PEG3_uc010etr.2_Nonsense_Mutation_p.C1133*	p.C1133*	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	3750	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1133					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Nonsense_Mutation	SNP	ENST00000326441.9	37	c.3399C>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	40	8.490132	0.98834	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	.	.	.	4.11	-7.88	0.01178	.	0.956016	0.08647	N	0.914623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-3.0198	9.8527	0.41066	0.7042:0.0:0.1847:0.1111	.	.	.	.	X	1133	.	ENSP00000326581:C1133X	C	-	3	2	ZIM2	62018223	0.000000	0.05858	0.000000	0.03702	0.985000	0.73830	-4.038000	0.00308	-1.612000	0.01579	0.655000	0.94253	TGC		PASS	0.478	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			202	206	202	206	---	---	---	---
USP29	57663	broad.mit.edu	37	19	57640100	57640100	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:57640100G>C	ENST00000254181.4	+	4	511	c.57G>C	c.(55-57)atG>atC	p.M19I	USP29_ENST00000598197.1_Missense_Mutation_p.M19I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	19					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.M19I(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGACTGGGATGACTAAGCTGA	0.348																																						uc002qny.2																			1	Substitution - Missense(1)		lung(1)	lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(55-57)ATG>ATC		ubiquitin specific peptidase 29							49.0	49.0	49.0					19																	57640100		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640100G>C		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.57G>C	19.37:g.57640100G>C	ENSP00000254181:p.Met19Ile						p.M19I	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	413	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	19						Missense_Mutation	SNP	ENST00000254181.4	37	c.57G>C	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	0.291	-0.979957	0.02197	.	.	ENSG00000131864	ENST00000254181	T	0.42513	0.97	2.64	-3.07	0.05363	.	1.413470	0.05237	U	0.511371	T	0.18676	0.0448	N	0.17082	0.46	0.09310	N	1	B	0.23377	0.084	B	0.17722	0.019	T	0.16958	-1.0385	10	0.02654	T	1	2.5103	3.1025	0.06330	0.5154:0.0:0.2585:0.2261	.	19	Q9HBJ7	UBP29_HUMAN	I	19	ENSP00000254181:M19I	ENSP00000254181:M19I	M	+	3	0	USP29	62331912	0.005000	0.15991	0.000000	0.03702	0.296000	0.27459	-0.541000	0.06099	-0.685000	0.05177	0.591000	0.81541	ATG		PASS	0.348	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			64	83	64	83	---	---	---	---
ZNF547	284306	broad.mit.edu	37	19	57883207	57883207	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr19:57883207C>G	ENST00000282282.3	+	3	232	c.82C>G	c.(82-84)Ctc>Gtc	p.L28V	AC003002.4_ENST00000597658.1_Missense_Mutation_p.L28V	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	28	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L28V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGGGGGCATCTCGATGAGGC	0.498																																						uc002qol.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(82-84)CTC>GTC		zinc finger protein 547							359.0	329.0	339.0					19																	57883207		2203	4300	6503	SO:0001583	missense	284306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57883207C>G	AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"""Zinc fingers, C2H2-type"", ""-"""	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.82C>G	19.37:g.57883207C>G	ENSP00000282282:p.Leu28Val					ZNF547_uc010ygx.1_Missense_Mutation_p.L28V	p.L28V	NM_173631	NP_775902	Q8IVP9	ZN547_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	275	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	28			KRAB.		A8K5Z9|Q96NC4	Missense_Mutation	SNP	ENST00000282282.3	37	c.82C>G	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461213	0.43736	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.18657	2.2	2.01	2.01	0.26516	Krueppel-associated box (4);	.	.	.	.	T	0.58949	0.2158	H	0.98682	4.3	0.09310	N	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.995	T	0.50048	-0.8873	9	0.87932	D	0	.	7.5401	0.27733	0.0:1.0:0.0:0.0	.	28;28	Q8IVP9-2;Q8IVP9	.;ZN547_HUMAN	V	28	ENSP00000282282:L28V	ENSP00000282282:L28V	L	+	1	0	ZNF547	62575019	0.692000	0.27719	0.171000	0.22900	0.967000	0.64934	1.833000	0.39161	1.438000	0.47492	0.561000	0.74099	CTC		PASS	0.498	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631		31	729	31	729	---	---	---	---
TMC2	117532	broad.mit.edu	37	20	2618178	2618178	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr20:2618178C>T	ENST00000358864.1	+	19	2459	c.2444C>T	c.(2443-2445)tCa>tTa	p.S815L		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	815					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.S815L(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GCCAGAGATTCAGAGGACACA	0.458																																						uc002wgf.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2443-2445)TCA>TTA		transmembrane cochlear-expressed protein 2							142.0	134.0	136.0					20																	2618178		2203	4300	6503	SO:0001583	missense	117532					integral to membrane		g.chr20:2618178C>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2444C>T	20.37:g.2618178C>T	ENSP00000351732:p.Ser815Leu					TMC2_uc002wgg.1_Missense_Mutation_p.S799L	p.S815L	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN			19	2459	+			815			Cytoplasmic (Potential).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.2444C>T	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654333	0.29425	.	.	ENSG00000149488	ENST00000358864	T	0.62941	-0.01	4.88	4.88	0.63580	.	0.100781	0.41500	D	0.000875	T	0.44095	0.1277	N	0.19112	0.55	0.30430	N	0.777273	B	0.02656	0.0	B	0.04013	0.001	T	0.24190	-1.0167	10	0.09590	T	0.72	-6.2545	14.3198	0.66479	0.0:1.0:0.0:0.0	.	815	Q8TDI7	TMC2_HUMAN	L	815	ENSP00000351732:S815L	ENSP00000351732:S815L	S	+	2	0	TMC2	2566178	0.669000	0.27502	0.997000	0.53966	0.739000	0.42172	1.256000	0.32921	2.672000	0.90937	0.551000	0.68910	TCA		PASS	0.458	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			9	136	9	136	---	---	---	---
SLC4A11	83959	broad.mit.edu	37	20	3211589	3211589	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr20:3211589G>A	ENST00000380056.3	-	9	1253	c.1206C>T	c.(1204-1206)gaC>gaT	p.D402D	SLC4A11_ENST00000488544.1_5'Flank|SLC4A11_ENST00000380059.3_Silent_p.D429D|SLC4A11_ENST00000539553.2_Silent_p.D386D	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	402	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)	p.D429D(1)|p.D402D(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CGATGGCCCCGTCTGTGTTCT	0.662																																					NSCLC(190;922 2139 10266 10292 38692)	uc002wig.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1204-1206)GAC>GAT		solute carrier family 4 member 11							109.0	103.0	105.0					20																	3211589		2203	4300	6503	SO:0001819	synonymous_variant	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3211589G>A	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1206C>T	20.37:g.3211589G>A						SLC4A11_uc010zqe.1_Silent_p.D429D|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Silent_p.D386D	p.D402D	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN			9	1254	-			402			Membrane (bicarbonate transporter).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	c.1206C>T	CCDS13052.1																																																																																				PASS	0.662	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			74	74	74	74	---	---	---	---
MCM8	84515	broad.mit.edu	37	20	5966673	5966673	+	Nonsense_Mutation	SNP	C	C	T	rs140773345		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr20:5966673C>T	ENST00000378896.3	+	16	2436	c.2059C>T	c.(2059-2061)Cga>Tga	p.R687*	MCM8_ENST00000378883.1_Nonsense_Mutation_p.R640*|MCM8_ENST00000378886.2_Nonsense_Mutation_p.R727*|MCM8_ENST00000265187.4_Nonsense_Mutation_p.R671*	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	687					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R687*(1)|p.R671*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						AGAAGCTGCTCGAGTTCTTCA	0.468																																						uc002wmi.2																			2	Substitution - Nonsense(2)		lung(2)	skin(1)	1						c.(2059-2061)CGA>TGA		minichromosome maintenance complex component 8		C	stop/ARG,stop/ARG	2,4404	4.2+/-10.8	0,2,2201	119.0	109.0	113.0		2059,2011	5.7	1.0	20	dbSNP_134	113	0,8600		0,0,4300	no	stop-gained,stop-gained	MCM8	NM_032485.4,NM_182802.1	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	687/841,671/825	5966673	2,13004	2203	4300	6503	SO:0001587	stop_gained	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5966673C>T	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.2059C>T	20.37:g.5966673C>T	ENSP00000368174:p.Arg687*					MCM8_uc002wmj.2_Nonsense_Mutation_p.R671*|MCM8_uc002wmk.2_Nonsense_Mutation_p.R727*|MCM8_uc002wml.2_Nonsense_Mutation_p.R687*|MCM8_uc010gbp.2_Nonsense_Mutation_p.R640*|MCM8_uc002wmm.2_Nonsense_Mutation_p.R225*	p.R687*	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN			16	2436	+			687					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Nonsense_Mutation	SNP	ENST00000378896.3	37	c.2059C>T	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	C	42	9.538896	0.99199	4.54E-4	0.0	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	.	.	.	5.65	5.65	0.86999	.	0.054667	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-7.1168	20.0965	0.97849	0.0:1.0:0.0:0.0	.	.	.	.	X	687;640;727;671	.	ENSP00000265187:R671X	R	+	1	2	MCM8	5914673	0.998000	0.40836	0.985000	0.45067	0.711000	0.40976	3.769000	0.55303	2.824000	0.97209	0.655000	0.94253	CGA		PASS	0.468	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		9	263	9	263	---	---	---	---
PAK7	57144	broad.mit.edu	37	20	9520232	9520232	+	Silent	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr20:9520232C>T	ENST00000378429.3	-	11	2583	c.2037G>A	c.(2035-2037)ttG>ttA	p.L679L	PAK7_ENST00000378423.1_Silent_p.L679L|PAK7_ENST00000353224.5_Silent_p.L679L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	679	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L679L(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TCACCAACATCAAGTCTAGGA	0.502																																						uc002wnl.2																			1	Substitution - coding silent(1)		lung(1)	lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(2035-2037)TTG>TTA		p21-activated kinase 7							181.0	172.0	175.0					20																	9520232		2203	4300	6503	SO:0001819	synonymous_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9520232C>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.2037G>A	20.37:g.9520232C>T						PAK7_uc002wnk.2_Silent_p.L679L|PAK7_uc002wnj.2_Silent_p.L679L|PAK7_uc010gby.1_Silent_p.L592L	p.L679L	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		11	2582	-			679			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	c.2037G>A	CCDS13107.1																																																																																				PASS	0.502	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			71	443	71	443	---	---	---	---
PAK7	57144	broad.mit.edu	37	20	9546564	9546564	+	Silent	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr20:9546564C>T	ENST00000378429.3	-	6	2004	c.1458G>A	c.(1456-1458)caG>caA	p.Q486Q	PAK7_ENST00000378423.1_Silent_p.Q486Q|PAK7_ENST00000353224.5_Silent_p.Q486Q	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	486	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q486Q(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GTTCTCGTCTCTGTTGCTTCC	0.438																																						uc002wnl.2																			1	Substitution - coding silent(1)		lung(1)	lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(1456-1458)CAG>CAA		p21-activated kinase 7							266.0	248.0	254.0					20																	9546564		2203	4300	6503	SO:0001819	synonymous_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9546564C>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1458G>A	20.37:g.9546564C>T						PAK7_uc002wnk.2_Silent_p.Q486Q|PAK7_uc002wnj.2_Silent_p.Q486Q|PAK7_uc010gby.1_Silent_p.Q486Q	p.Q486Q	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	2003	-			486			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	c.1458G>A	CCDS13107.1																																																																																				PASS	0.438	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			11	641	11	641	---	---	---	---
SPTLC3	55304	broad.mit.edu	37	20	13107262	13107262	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr20:13107262C>T	ENST00000399002.2	+	9	1451	c.1177C>T	c.(1177-1179)Cac>Tac	p.H393Y	SPTLC3_ENST00000378194.4_Silent_p.F319F	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	393					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.H393Y(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						TTTACGGGTTCACTCGCATAG	0.438																																						uc002wod.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1177-1179)CAC>TAC		serine palmitoyltransferase, long chain base	Pyridoxal Phosphate(DB00114)						285.0	262.0	269.0					20																	13107262		1904	4119	6023	SO:0001583	missense	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13107262C>T	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1177C>T	20.37:g.13107262C>T	ENSP00000381968:p.His393Tyr						p.H393Y	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN			9	1466	+			393					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.1177C>T	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	C	5.212	0.224633	0.09916	.	.	ENSG00000172296	ENST00000399002	D	0.90324	-2.65	6.17	3.13	0.36017	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.319959	0.41097	D	0.000958	T	0.80059	0.4554	N	0.17248	0.465	0.80722	D	1	B	0.17038	0.02	B	0.21151	0.033	T	0.66791	-0.5834	10	0.10377	T	0.69	-9.4066	9.9131	0.41417	0.272:0.6633:0.0:0.0647	.	393	Q9NUV7	SPTC3_HUMAN	Y	393	ENSP00000381968:H393Y	ENSP00000381968:H393Y	H	+	1	0	SPTLC3	13055262	0.946000	0.32159	0.373000	0.26003	0.644000	0.38419	2.151000	0.42263	0.427000	0.26145	-0.136000	0.14681	CAC		PASS	0.438	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		12	707	12	707	---	---	---	---
MACROD2	140733	broad.mit.edu	37	20	16025218	16025218	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr20:16025218G>A	ENST00000310348.4	+	17	1234	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	MACROD2_ENST00000378058.3_Missense_Mutation_p.E177K|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000407045.3_Missense_Mutation_p.E63K|MACROD2_ENST00000402914.1_Missense_Mutation_p.E177K			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	412					brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.E177K(1)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GGTGACAGTTGAAATGAATAG	0.333																																						uc002wou.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1234-1236)GAA>AAA		MACRO domain containing 2 isoform 1							65.0	63.0	64.0					20																	16025218		2203	4300	6503	SO:0001583	missense	140733							g.chr20:16025218G>A	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.1234G>A	20.37:g.16025218G>A	ENSP00000309809:p.Glu412Lys					MACROD2_uc002wot.2_Intron|MACROD2_uc002woz.2_Missense_Mutation_p.E177K|MACROD2_uc002wpb.2_Intron|MACROD2_uc002wpd.2_Missense_Mutation_p.E63K	p.E412K	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN			17	1498	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	412					A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.1234G>A	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153263	0.57259	.	.	ENSG00000172264	ENST00000310348;ENST00000402914;ENST00000378058;ENST00000407045	T;T;T	0.53857	2.17;0.6;0.6	5.8	5.8	0.92144	.	.	.	.	.	T	0.69006	0.3063	.	.	.	0.30223	N	0.796611	D;P	0.63046	0.992;0.805	P;B	0.59357	0.856;0.211	T	0.69075	-0.5241	8	0.72032	D	0.01	.	17.2146	0.86939	0.0:0.0:1.0:0.0	.	63;412	A1Z1Q3-6;A1Z1Q3	.;MACD2_HUMAN	K	412;177;177;63	ENSP00000309809:E412K;ENSP00000385290:E177K;ENSP00000367297:E177K	ENSP00000309809:E412K	E	+	1	0	MACROD2	15973218	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	4.203000	0.58453	2.741000	0.93983	0.650000	0.86243	GAA		PASS	0.333	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		6	127	6	127	---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31019263	31019263	+	Silent	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr20:31019263C>T	ENST00000375687.4	+	9	1282	c.858C>T	c.(856-858)ttC>ttT	p.F286F	ASXL1_ENST00000306058.5_Silent_p.F281F	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	286	Interaction with KDM1A. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.F286F(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGCTCCTCTTCCTCCTGCCTG	0.512			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2				Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(856-858)TTC>TTT		additional sex combs like 1 isoform 1							144.0	142.0	143.0					20																	31019263		2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31019263C>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.858C>T	20.37:g.31019263C>T						ASXL1_uc010geb.2_Silent_p.F177F	p.F286F	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			8	1284	+			286			LXXLL motif.		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.858C>T	CCDS13201.1																																																																																				PASS	0.512	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		96	311	96	311	---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31022586	31022586	+	Silent	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr20:31022586C>T	ENST00000375687.4	+	13	2495	c.2071C>T	c.(2071-2073)Cta>Tta	p.L691L	ASXL1_ENST00000306058.5_Silent_p.L686L	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	691					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.L691L(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TACGTCAGATCTACAGCGAAC	0.607			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2				Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(2071-2073)CTA>TTA		additional sex combs like 1 isoform 1							49.0	43.0	45.0					20																	31022586		2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022586C>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2071C>T	20.37:g.31022586C>T						ASXL1_uc010geb.2_Silent_p.L582L	p.L691L	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			12	2497	+			691					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.2071C>T	CCDS13201.1																																																																																				PASS	0.607	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		9	73	9	73	---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31023203	31023203	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr20:31023203G>A	ENST00000375687.4	+	13	3112	c.2688G>A	c.(2686-2688)ttG>ttA	p.L896L	ASXL1_ENST00000306058.5_Silent_p.L891L	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	896					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.L896L(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						ACAGTTCTTTGCATTGGATAC	0.463			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2				Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(2686-2688)TTG>TTA		additional sex combs like 1 isoform 1							105.0	104.0	104.0					20																	31023203		2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31023203G>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2688G>A	20.37:g.31023203G>A						ASXL1_uc010geb.2_Silent_p.L787L	p.L896L	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			12	3114	+			896					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.2688G>A	CCDS13201.1																																																																																				PASS	0.463	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		8	397	8	397	---	---	---	---
PXMP4	11264	broad.mit.edu	37	20	32298406	32298406	+	Silent	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr20:32298406G>A	ENST00000409299.3	-	3	422	c.330C>T	c.(328-330)ctC>ctT	p.L110L	PXMP4_ENST00000217398.3_Missense_Mutation_p.S117L|PXMP4_ENST00000344022.3_Intron	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	110						integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)		p.L110L(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						GGATACCCCCGAGGAAGGCCG	0.557																																						uc002wzv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(328-330)CTC>CTT		peroxisomal membrane protein 4 isoform a							133.0	121.0	125.0					20																	32298406		2203	4300	6503	SO:0001819	synonymous_variant	11264					integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity	g.chr20:32298406G>A	AF072864	CCDS13225.1, CCDS13226.1	20q11.22	2008-07-02	2002-08-29		ENSG00000101417	ENSG00000101417			15920	protein-coding gene	gene with protein product	"""24 kDa peroxisomal intrinsic membrane protein"""		"""peroxisomal membrane protein 4 (24kD)"""			10366717	Standard	NM_183397		Approved	PMP24	uc002wzv.3	Q9Y6I8	OTTHUMG00000032273	ENST00000409299.3:c.330C>T	20.37:g.32298406G>A						PXMP4_uc002wzw.2_Intron|PXMP4_uc010zuh.1_Missense_Mutation_p.S117L	p.L110L	NM_007238	NP_009169	Q9Y6I8	PXMP4_HUMAN			3	453	-			110			Helical; (Potential).		A2A2I7|Q9H0T4	Silent	SNP	ENST00000409299.3	37	c.330C>T	CCDS13225.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.163027	0.00318	.	.	ENSG00000101417	ENST00000217398	.	.	.	5.22	-3.43	0.04810	.	.	.	.	.	T	0.25717	0.0626	.	.	.	0.24949	N	0.9918	B	0.17667	0.023	B	0.09377	0.004	T	0.22034	-1.0228	7	0.87932	D	0	-13.4969	3.4441	0.07474	0.5013:0.1096:0.2775:0.1115	.	117	B4DWH1	.	L	117	.	ENSP00000217398:S117L	S	-	2	0	PXMP4	31762067	0.002000	0.14202	0.010000	0.14722	0.005000	0.04900	-1.153000	0.03169	-1.011000	0.03391	-2.913000	0.00091	TCG		PASS	0.557	PXMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078739.2	NM_007238		37	241	37	241	---	---	---	---
NFS1	9054	broad.mit.edu	37	20	34260741	34260741	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr20:34260741C>G	ENST00000374092.4	-	12	1316	c.1246G>C	c.(1246-1248)Gag>Cag	p.E416Q	NFS1_ENST00000374085.1_Missense_Mutation_p.E356Q|NFS1_ENST00000397425.1_Missense_Mutation_p.E356Q|NFS1_ENST00000541387.1_Missense_Mutation_p.E365Q|NFS1_ENST00000540053.1_Missense_Mutation_p.E214Q|NFS1_ENST00000498084.1_5'UTR|RP1-309K20.6_ENST00000541176.2_Missense_Mutation_p.Q75H	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	416					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.E416Q(1)		central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	ACTTCCTCCTCTGTAGTGAAG	0.458																																						uc002xdw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1246-1248)GAG>CAG		NFS1 nitrogen fixation 1 precursor	L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						98.0	81.0	86.0					20																	34260741		2203	4300	6503	SO:0001583	missense	9054				cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr20:34260741C>G	AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"""nitrogen fixation 1 (S. cerevisiae, homolog)"", ""NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"""			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.1246G>C	20.37:g.34260741C>G	ENSP00000363205:p.Glu416Gln					CPNE1_uc002xdn.1_RNA|CPNE1_uc002xdo.1_RNA|CPNE1_uc002xdp.1_RNA|NFS1_uc002xdt.1_Missense_Mutation_p.E356Q|NFS1_uc002xdu.1_Missense_Mutation_p.E356Q|NFS1_uc002xdv.1_RNA|NFS1_uc010zvk.1_Missense_Mutation_p.E214Q|NFS1_uc010zvl.1_Missense_Mutation_p.E365Q	p.E416Q	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0886)		12	1310	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		416					B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Missense_Mutation	SNP	ENST00000374092.4	37	c.1246G>C	CCDS13262.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645064	0.67358	.	.	ENSG00000244005	ENST00000374092;ENST00000374085;ENST00000397425;ENST00000540053;ENST00000541387	D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21	5.37	5.37	0.77165	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.094304	0.64402	D	0.000001	D	0.88698	0.6507	M	0.74389	2.26	0.80722	D	1	B;B	0.25955	0.138;0.016	B;B	0.31101	0.124;0.022	D	0.86499	0.1802	10	0.59425	D	0.04	-10.9735	19.3071	0.94167	0.0:1.0:0.0:0.0	.	365;416	F5GYK5;Q9Y697	.;NFS1_HUMAN	Q	416;356;356;214;365	ENSP00000363205:E416Q;ENSP00000363198:E356Q;ENSP00000380570:E356Q;ENSP00000438594:E214Q;ENSP00000440897:E365Q	ENSP00000363198:E356Q	E	-	1	0	NFS1	33724155	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.586000	0.67503	2.793000	0.96121	0.563000	0.77884	GAG		PASS	0.458	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078936.4	NM_021100		9	219	9	219	---	---	---	---
PPP1R16B	26051	broad.mit.edu	37	20	37546855	37546855	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr20:37546855G>A	ENST00000299824.1	+	11	1439	c.1250G>A	c.(1249-1251)cGa>cAa	p.R417Q	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.R375Q	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	417					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.R417Q(1)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AAGATCCCACGAGGTGAACTG	0.572																																						uc002xje.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3						c.(1249-1251)CGA>CAA		protein phosphatase 1 regulatory inhibitor							147.0	149.0	148.0					20																	37546855		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37546855G>A	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1250G>A	20.37:g.37546855G>A	ENSP00000299824:p.Arg417Gln					PPP1R16B_uc010ggc.2_Missense_Mutation_p.R375Q	p.R417Q	NM_015568	NP_056383	Q96T49	PP16B_HUMAN			11	1439	+		Myeloproliferative disorder(115;0.00878)	417					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.1250G>A	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.938|9.938	1.216691|1.216691	0.22373|0.22373	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000438192|ENST00000299824;ENST00000373331	.|T;T	.|0.69175	.|-0.2;-0.38	5.44|5.44	3.36|3.36	0.38483|0.38483	.|.	.|0.318910	.|0.30428	.|N	.|0.009650	T|T	0.33177|0.33177	0.0854|0.0854	N|N	0.03608|0.03608	-0.345|-0.345	0.24481|0.24481	N|N	0.994348|0.994348	.|B;B	.|0.09022	.|0.001;0.002	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.12344|0.12344	-1.0551|-1.0551	5|10	.|0.11794	.|T	.|0.64	.|.	3.1805|3.1805	0.06583|0.06583	0.252:0.0:0.4804:0.2676|0.252:0.0:0.4804:0.2676	.|.	.|375;417	.|E9PFS8;Q96T49	.|.;PP16B_HUMAN	K|Q	318|417;375	.|ENSP00000299824:R417Q;ENSP00000362428:R375Q	.|ENSP00000299824:R417Q	E|R	+|+	1|2	0|0	PPP1R16B|PPP1R16B	36980269|36980269	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.951000|0.951000	0.60555|0.60555	2.209000|2.209000	0.42806|0.42806	1.301000|1.301000	0.44836|0.44836	0.655000|0.655000	0.94253|0.94253	GAG|CGA		PASS	0.572	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		11	261	11	261	---	---	---	---
L3MBTL1	26013	broad.mit.edu	37	20	42169587	42169587	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr20:42169587G>C	ENST00000427442.2	+	22	2501	c.2342G>C	c.(2341-2343)aGa>aCa	p.R781T	L3MBTL1_ENST00000444063.1_3'UTR|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.R713T|L3MBTL1_ENST00000373134.1_3'UTR|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.R781T			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	0					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R781T(1)		breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						AGAATAGTCAGAGTGACCCAT	0.572																																						uc010zwh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2341-2343)AGA>ACA		l(3)mbt-like isoform I							76.0	69.0	71.0					20																	42169587		2203	4300	6503	SO:0001583	missense	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42169587G>C	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.2342G>C	20.37:g.42169587G>C	ENSP00000402107:p.Arg781Thr					L3MBTL_uc002xkl.2_Missense_Mutation_p.R713T|L3MBTL_uc002xkm.2_3'UTR|L3MBTL_uc010ggl.2_3'UTR|L3MBTL_uc002xkn.1_Intron|L3MBTL_uc002xko.2_3'UTR|L3MBTL_uc002xkp.2_Missense_Mutation_p.R101T|SGK2_uc002xkq.1_Intron	p.R781T	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		22	2388	+		Myeloproliferative disorder(115;0.00452)	Error:Variant_position_missing_in_Q9Y468_after_alignment					B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	c.2342G>C	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	G	3.231	-0.157504	0.06544	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135	T;T;T	0.18810	2.2;2.2;2.19	3.5	-4.89	0.03103	.	.	.	.	.	T	0.11367	0.0277	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.29397	-1.0013	9	0.38643	T	0.18	.	7.3132	0.26485	0.0:0.4626:0.3429:0.1944	.	781;101;713	Q9Y468-5;Q6ZWF5;Q9Y468-1	.;.;.	T	781;781;713	ENSP00000402107:R781T;ENSP00000398516:R781T;ENSP00000362227:R713T	ENSP00000362227:R713T	R	+	2	0	L3MBTL1	41603001	0.000000	0.05858	0.001000	0.08648	0.143000	0.21401	-1.111000	0.03303	-1.116000	0.02969	0.557000	0.71058	AGA		PASS	0.572	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		4	37	4	37	---	---	---	---
MATN4	8785	broad.mit.edu	37	20	43927019	43927019	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr20:43927019G>T	ENST00000372754.1	-	7	1348	c.1340C>A	c.(1339-1341)gCc>gAc	p.A447D	MATN4_ENST00000537548.1_Missense_Mutation_p.A406D|MATN4_ENST00000372756.1_Missense_Mutation_p.A406D|MATN4_ENST00000342716.4_Missense_Mutation_p.A406D|MATN4_ENST00000372751.4_Missense_Mutation_p.A257D|MATN4_ENST00000353917.5_Missense_Mutation_p.A324D|MATN4_ENST00000360607.6_Missense_Mutation_p.A365D			O95460	MATN4_HUMAN	matrilin 4	447	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)		p.A406D(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CTTCACCTCGGCTGCGGTGCC	0.677																																						uc002xnn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1216-1218)GCC>GAC		matrilin 4 isoform 1 precursor							49.0	45.0	46.0					20																	43927019		2203	4300	6503	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43927019G>T	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1340C>A	20.37:g.43927019G>T	ENSP00000361840:p.Ala447Asp					MATN4_uc002xno.2_Missense_Mutation_p.A365D|MATN4_uc002xnp.2_Missense_Mutation_p.A324D|MATN4_uc010zwr.1_Missense_Mutation_p.A354D|MATN4_uc002xnr.1_Missense_Mutation_p.A406D	p.A406D	NM_003833	NP_003824	O95460	MATN4_HUMAN			7	1404	-		Myeloproliferative disorder(115;0.0122)	447			VWFA 2.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.1217C>A		.	.	.	.	.	.	.	.	.	.	G	10.23	1.292981	0.23564	.	.	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	T;T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.34	4.3	0.51218	.	0.162462	0.29113	N	0.013113	T	0.60025	0.2237	N	0.16602	0.42	0.21020	N	0.99981	B;B;B	0.11235	0.004;0.002;0.001	B;B;B	0.20577	0.03;0.004;0.003	T	0.33085	-0.9882	10	0.08381	T	0.77	.	12.586	0.56419	0.0:0.0:0.7369:0.2631	.	324;365;406	A6NNA4;O95460-4;O95460-2	.;.;.	D	257;447;406;324;365;406;406;447;257	ENSP00000361839:A257D;ENSP00000361840:A447D;ENSP00000361842:A406D;ENSP00000243983:A324D;ENSP00000353819:A365D;ENSP00000343164:A406D;ENSP00000440328:A406D;ENSP00000361837:A257D	ENSP00000255132:A447D	A	-	2	0	MATN4	43360433	0.800000	0.28916	0.381000	0.26106	0.935000	0.57460	2.620000	0.46410	2.499000	0.84300	0.644000	0.83932	GCC		PASS	0.677	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			12	27	12	27	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57769516	57769516	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr20:57769516C>G	ENST00000371030.2	+	1	3442	c.3442C>G	c.(3442-3444)Cca>Gca	p.P1148A		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1148							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.P1148A(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCAGGCTGGCCAGAGCTGGC	0.677																																						uc002yan.2																			1	Substitution - Missense(1)		lung(1)	skin(13)|ovary(1)	14						c.(3442-3444)CCA>GCA		zinc finger protein 831							38.0	44.0	42.0					20																	57769516		1986	4162	6148	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769516C>G	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3442C>G	20.37:g.57769516C>G	ENSP00000360069:p.Pro1148Ala						p.P1148A	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	3442	+	all_lung(29;0.0085)		1148					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.3442C>G	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.189094	0.57909	.	.	ENSG00000124203	ENST00000371030	T	0.05996	3.36	4.75	2.81	0.32909	.	0.695406	0.13614	N	0.374899	T	0.09379	0.0231	L	0.32530	0.975	0.09310	N	1	D	0.56287	0.975	P	0.51945	0.685	T	0.20706	-1.0267	10	0.72032	D	0.01	-3.3443	8.0463	0.30551	0.0:0.8099:0.0:0.1901	.	1148	Q5JPB2	ZN831_HUMAN	A	1148	ENSP00000360069:P1148A	ENSP00000360069:P1148A	P	+	1	0	ZNF831	57202911	0.013000	0.17824	0.047000	0.18901	0.248000	0.25809	2.113000	0.41902	0.545000	0.28902	0.609000	0.83330	CCA		PASS	0.677	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		65	21	65	21	---	---	---	---
NPBWR2	2832	broad.mit.edu	37	20	62737588	62737588	+	Silent	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr20:62737588C>G	ENST00000369768.1	-	1	936	c.597G>C	c.(595-597)ctG>ctC	p.L199L		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	199					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)	p.L199L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					ACGGGAAGCTCAGCCCACAGC	0.622																																						uc011abt.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(595-597)CTG>CTC		neuropeptides B/W receptor 2							49.0	44.0	46.0					20																	62737588		2201	4294	6495	SO:0001819	synonymous_variant	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62737588C>G	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.597G>C	20.37:g.62737588C>G							p.L199L	NM_005286	NP_005277	P48146	NPBW2_HUMAN			1	597	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		199			Extracellular (Potential).		Q6NWQ6|Q9H4K3	Silent	SNP	ENST00000369768.1	37	c.597G>C	CCDS13557.1																																																																																				PASS	0.622	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		10	34	10	34	---	---	---	---
MIR99AHG	388815	broad.mit.edu	37	21	17912228	17912228	+	lincRNA	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr21:17912228G>C	ENST00000458468.1	+	0	579				MIR99A_ENST00000384906.1_RNA|MIRLET7C_ENST00000362160.1_RNA	NR_027790.1																						GCTTTCCTTGGAGCACACTTG	0.438																																						hsa-let-7c|MI0000064																			0					0															170.0	149.0	155.0					21																	17912228		1568	3582	5150			406885							g.chr21:17912228G>C																													21.37:g.17912228G>C						C21orf34_uc002ykb.2_Intron|C21orf34_uc010glc.2_Intron|C21orf34_uc002ykc.2_Intron|uc002yke.2_RNA										+									RNA	SNP	ENST00000458468.1	37	c.81G>C																																																																																					PASS	0.438	LINC00478-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000158029.1			31	99	31	99	---	---	---	---
TMPRSS15	5651	broad.mit.edu	37	21	19653497	19653497	+	Missense_Mutation	SNP	A	A	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr21:19653497A>T	ENST00000284885.3	-	22	2561	c.2528T>A	c.(2527-2529)cTg>cAg	p.L843Q		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	843	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.L843Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTTCATATGCAGGCCTAGGAT	0.403																																						uc002ykw.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(2527-2529)CTG>CAG		enterokinase precursor							187.0	177.0	180.0					21																	19653497		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19653497A>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2528T>A	21.37:g.19653497A>T	ENSP00000284885:p.Leu843Gln						p.L843Q	NM_002772	NP_002763	P98073	ENTK_HUMAN			22	2559	-			843			Extracellular (Potential).|Peptidase S1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.2528T>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.019685	0.54576	.	.	ENSG00000154646	ENST00000284885	D	0.87966	-2.32	5.66	5.66	0.87406	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.160446	0.41823	D	0.000807	D	0.88742	0.6519	L	0.27975	0.815	0.40343	D	0.979056	D	0.76494	0.999	D	0.75484	0.986	D	0.88275	0.2932	9	.	.	.	.	15.1244	0.72472	1.0:0.0:0.0:0.0	.	843	P98073	ENTK_HUMAN	Q	843	ENSP00000284885:L843Q	.	L	-	2	0	TMPRSS15	18575368	1.000000	0.71417	0.996000	0.52242	0.264000	0.26372	7.156000	0.77453	2.168000	0.68352	0.397000	0.26171	CTG		PASS	0.403	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		116	216	116	216	---	---	---	---
HLCS	3141	broad.mit.edu	37	21	38309032	38309032	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr21:38309032G>A	ENST00000399120.1	-	5	1943	c.713C>T	c.(712-714)tCt>tTt	p.S238F	HLCS_ENST00000336648.4_Missense_Mutation_p.S238F	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	238					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)	p.S238F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CCCTCCCTGAGAAAGATAGGC	0.532																																						uc010gnb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|kidney(1)|liver(1)	5						c.(712-714)TCT>TTT		holocarboxylase synthetase	Biotin(DB00121)						72.0	74.0	73.0					21																	38309032		2203	4300	6503	SO:0001583	missense	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38309032G>A		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.713C>T	21.37:g.38309032G>A	ENSP00000382071:p.Ser238Phe					HLCS_uc002yvs.2_Missense_Mutation_p.S238F|HLCS_uc010gnc.1_Missense_Mutation_p.S385F	p.S238F	NM_000411	NP_000402	P50747	BPL1_HUMAN			4	1914	-		Myeloproliferative disorder(46;0.0422)	238					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.713C>T	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437430	0.62955	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.98329	-4.87;-4.87	5.91	3.99	0.46301	.	0.410373	0.31323	N	0.007857	D	0.97726	0.9254	M	0.76574	2.34	0.47037	D	0.999298	D;D	0.56287	0.975;0.969	P;P	0.50231	0.59;0.635	D	0.96765	0.9564	10	0.34782	T	0.22	.	12.519	0.56048	0.0:0.1273:0.7403:0.1324	.	238;238	B2RAH1;P50747	.;BPL1_HUMAN	F	238	ENSP00000382071:S238F;ENSP00000338387:S238F	ENSP00000338387:S238F	S	-	2	0	HLCS	37230902	0.979000	0.34478	0.658000	0.29665	0.987000	0.75469	3.079000	0.50104	1.489000	0.48450	0.655000	0.94253	TCT		PASS	0.532	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			5	70	5	70	---	---	---	---
PEX26	55670	broad.mit.edu	37	22	18562701	18562701	+	Missense_Mutation	SNP	C	C	T	rs62641228		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr22:18562701C>T	ENST00000329627.7	+	3	498	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	XXbac-B476C20.9_ENST00000607927.1_RNA|PEX26_ENST00000399744.3_Missense_Mutation_p.R98W|XXbac-B476C20.9_ENST00000426483.1_RNA|PEX26_ENST00000428061.2_Missense_Mutation_p.R98W	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	98			R -> W (in PBD7B; neonatal adrenoleukodystrophy; affects the interaction with PEX6). {ECO:0000269|PubMed:12717447, ECO:0000269|PubMed:12851857}.		protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)	integral component of peroxisomal membrane (GO:0005779)|peroxisome (GO:0005777)	ATPase binding (GO:0051117)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.R98W(1)		breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AGAAATGGATCGGTGGCAAGA	0.517																																						uc002znp.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1	GRCh37	CM032027	PEX26	M	rs62641228	c.(292-294)CGG>TGG		peroxisome biogenesis factor 26		C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	159.0	139.0	146.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	292,292,292	5.5	1.0	22	dbSNP_129	146	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	PEX26	NM_001127649.2,NM_001199319.1,NM_017929.5	101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	98/306,98/257,98/306	18562701	1,13005	2203	4300	6503	SO:0001583	missense	55670				protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding	g.chr22:18562701C>T	AB089678	CCDS13750.1, CCDS56221.1	22q11.21	2008-08-26	2008-08-26		ENSG00000215193	ENSG00000215193			22965	protein-coding gene	gene with protein product		608666	"""peroxisome biogenesis factor 26"""			12717447, 12851857	Standard	NM_017929		Approved	FLJ20695	uc002znp.4	Q7Z412	OTTHUMG00000149970	ENST00000329627.7:c.292C>T	22.37:g.18562701C>T	ENSP00000331106:p.Arg98Trp					TUBA8_uc002znr.2_5'UTR|PEX26_uc002znq.3_Missense_Mutation_p.R98W|uc002zns.2_5'Flank|PEX26_uc002znt.2_Missense_Mutation_p.R98W	p.R98W	NM_017929	NP_060399	Q7Z412	PEX26_HUMAN			3	501	+			98		R -> W (in NALD; affects the interaction with PEX6).	Cytoplasmic (Potential).		F6UBB5|Q7Z413|Q7Z414|Q7Z415|Q7Z416|Q96B12|Q9NWQ0|Q9NXU0	Missense_Mutation	SNP	ENST00000329627.7	37	c.292C>T	CCDS13750.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812586	0.90707	0.0	1.16E-4	ENSG00000215193	ENST00000329627;ENST00000399744;ENST00000428061;ENST00000399746	D;D;D	0.94793	-3.52;-3.52;-3.52	5.46	5.46	0.80206	.	0.207499	0.33057	U	0.005321	D	0.97114	0.9057	M	0.78637	2.42	0.47698	A	0.999494	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97461	1.0034	9	0.87932	D	0	-20.661	16.8283	0.85937	0.0:1.0:0.0:0.0	rs62641228	98;98	F6UBB5;Q7Z412	.;PEX26_HUMAN	W	98	ENSP00000331106:R98W;ENSP00000382648:R98W;ENSP00000412441:R98W	ENSP00000331106:R98W	R	+	1	2	PEX26	16942701	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.630000	0.74272	2.724000	0.93272	0.491000	0.48974	CGG		PASS	0.517	PEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314644.3	NM_017929		9	164	9	164	---	---	---	---
SPECC1L	23384	broad.mit.edu	37	22	24765209	24765209	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr22:24765209C>T	ENST00000314328.9	+	14	3293	c.3008C>T	c.(3007-3009)tCa>tTa	p.S1003L	SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|SPECC1L_ENST00000541492.1_Missense_Mutation_p.S1003L|SPECC1L_ENST00000437398.1_Missense_Mutation_p.S1003L	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	1003					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)		p.S1003L(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GACCCTCTCTCAGCATTGGCC	0.378																																						uc002zzw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3007-3009)TCA>TTA		cytospin A							110.0	102.0	105.0					22																	24765209		2203	4300	6503	SO:0001583	missense	23384				cell cycle|cell division			g.chr22:24765209C>T	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.3008C>T	22.37:g.24765209C>T	ENSP00000325785:p.Ser1003Leu					CYTSA_uc002zzv.3_Missense_Mutation_p.S1003L|CYTSA_uc011ajq.1_Missense_Mutation_p.S1003L	p.S1003L	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN			14	3315	+			1003					B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	37	c.3008C>T	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901884	0.72754	.	.	ENSG00000100014	ENST00000437398;ENST00000314328;ENST00000541492	T;T;T	0.62105	0.05;0.05;3.07	5.56	5.56	0.83823	.	0.073744	0.56097	D	0.000022	T	0.52306	0.1726	L	0.27053	0.805	0.54753	D	0.999988	B;P	0.40000	0.336;0.698	B;B	0.36567	0.228;0.114	T	0.59364	-0.7468	10	0.72032	D	0.01	-10.3951	18.5081	0.90905	0.0:1.0:0.0:0.0	.	1003;1003	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	L	1003	ENSP00000393363:S1003L;ENSP00000325785:S1003L;ENSP00000439633:S1003L	ENSP00000325785:S1003L	S	+	2	0	SPECC1L	23095209	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	7.177000	0.77650	2.607000	0.88179	0.563000	0.77884	TCA		PASS	0.378	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		20	92	20	92	---	---	---	---
SF3A1	10291	broad.mit.edu	37	22	30730595	30730595	+	Silent	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr22:30730595C>T	ENST00000215793.8	-	16	2524	c.2370G>A	c.(2368-2370)ggG>ggA	p.G790G	SF3A1_ENST00000439242.1_Silent_p.G725G	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	790	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G790G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						ACTTCTTCCTCCCGCCTCTCT	0.562																																						uc003ahl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(2368-2370)GGG>GGA		splicing factor 3a, subunit 1, 120kDa isoform 1							146.0	129.0	135.0					22																	30730595		2203	4300	6503	SO:0001819	synonymous_variant	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30730595C>T	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.2370G>A	22.37:g.30730595C>T							p.G790G	NM_005877	NP_005868	Q15459	SF3A1_HUMAN			16	2502	-			790			Ubiquitin-like.		E9PAW1	Silent	SNP	ENST00000215793.8	37	c.2370G>A	CCDS13875.1																																																																																				PASS	0.562	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		5	193	5	193	---	---	---	---
MAFF	23764	broad.mit.edu	37	22	38609893	38609893	+	Silent	SNP	A	A	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr22:38609893A>G	ENST00000338483.2	+	2	395	c.33A>G	c.(31-33)ctA>ctG	p.L11L	MAFF_ENST00000538999.1_Intron|MAFF_ENST00000538320.1_Silent_p.L11L|MAFF_ENST00000407965.1_Silent_p.L11L|MAFF_ENST00000426621.2_Silent_p.L11L			Q9ULX9	MAFF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F	11					blood coagulation (GO:0007596)|in utero embryonic development (GO:0001701)|parturition (GO:0007567)|regulation of epidermal cell differentiation (GO:0045604)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L11L(1)		lung(2)|skin(1)	3	Melanoma(58;0.045)					GCAAAGCTCTAAAGGTGAGGA	0.547																																						uc011anp.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(31-33)CTA>CTG		transcription factor MAFF isoform a							120.0	98.0	105.0					22																	38609893		2203	4300	6503	SO:0001819	synonymous_variant	23764				blood coagulation|parturition|transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:38609893A>G	AJ010857	CCDS13968.1, CCDS54528.1	22q13.1	2013-07-09	2013-07-09		ENSG00000185022	ENSG00000185022			6780	protein-coding gene	gene with protein product		604877				10591208	Standard	NM_012323		Approved	hMafF	uc011anr.2	Q9ULX9	OTTHUMG00000151163	ENST00000338483.2:c.33A>G	22.37:g.38609893A>G						MAFF_uc003avc.2_Silent_p.L11L|MAFF_uc011anq.1_Intron|MAFF_uc011anr.1_Silent_p.L11L|MAFF_uc003avd.2_Missense_Mutation_p.K61E	p.L11L	NM_001161572	NP_001155044	Q9ULX9	MAFF_HUMAN			2	371	+	Melanoma(58;0.045)		11					B4DV49|Q9Y525	Silent	SNP	ENST00000338483.2	37	c.33A>G	CCDS13968.1																																																																																				PASS	0.547	MAFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321624.1	NM_001161572		44	65	44	65	---	---	---	---
TOMM22	56993	broad.mit.edu	37	22	39078929	39078929	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr22:39078929C>G	ENST00000216034.4	+	3	313	c.282C>G	c.(280-282)atC>atG	p.I94M	RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000412067.1_RNA|RP3-508I15.9_ENST00000444381.1_RNA	NM_020243.4	NP_064628.1	Q9NS69	TOM22_HUMAN	translocase of outer mitochondrial membrane 22 homolog (yeast)	94	TMD; necessary for mitochondrion outer membrane localization and integration in the TOM complex. {ECO:0000250}.				cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)	p.I94M(1)		large_intestine(1)|lung(2)	3	Melanoma(58;0.04)					CCTTTATGATCCTGGTTCTTC	0.522																																						uc003awe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(280-282)ATC>ATG		mitochondrial import receptor Tom22							162.0	145.0	151.0					22																	39078929		2203	4300	6503	SO:0001583	missense	56993				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity|receptor activity	g.chr22:39078929C>G	AB040119	CCDS13975.1	22q12-q13	2010-07-29			ENSG00000100216	ENSG00000100216			18002	protein-coding gene	gene with protein product		607046				10982837, 10900208	Standard	NM_020243		Approved	TOM22	uc003awe.3	Q9NS69	OTTHUMG00000150991	ENST00000216034.4:c.282C>G	22.37:g.39078929C>G	ENSP00000216034:p.Ile94Met					uc003awd.2_5'Flank	p.I94M	NM_020243	NP_064628	Q9NS69	TOM22_HUMAN			3	312	+	Melanoma(58;0.04)		94			TMD; necessary for mitochondrion outer membrane localization and integration in the TOM complex (By similarity).|Helical; (Potential).			Missense_Mutation	SNP	ENST00000216034.4	37	c.282C>G	CCDS13975.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318735	0.60524	.	.	ENSG00000100216	ENST00000216034	.	.	.	5.36	2.15	0.27550	.	0.000000	0.85682	D	0.000000	T	0.65933	0.2739	M	0.84511	2.7	0.58432	D	0.999999	P	0.48503	0.911	P	0.49752	0.621	T	0.67185	-0.5734	9	0.87932	D	0	-20.6165	8.5242	0.33296	0.0:0.6034:0.0:0.3966	.	94	Q9NS69	TOM22_HUMAN	M	94	.	ENSP00000216034:I94M	I	+	3	3	TOMM22	37408875	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	0.723000	0.25939	0.258000	0.21686	-0.251000	0.11542	ATC		PASS	0.522	TOMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320842.1			55	327	55	327	---	---	---	---
XRCC6	2547	broad.mit.edu	37	22	42042981	42042981	+	Silent	SNP	A	A	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr22:42042981A>C	ENST00000359308.4	+	6	1510	c.855A>C	c.(853-855)ccA>ccC	p.P285P	XRCC6_ENST00000402580.3_Silent_p.P244P|XRCC6_ENST00000360079.3_Silent_p.P285P|XRCC6_ENST00000405878.1_Silent_p.P285P|Y_RNA_ENST00000363462.1_RNA|XRCC6_ENST00000428575.2_Silent_p.P152P|XRCC6_ENST00000405506.1_Silent_p.P235P			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	285	Ku.				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)	p.P285P(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						AGCCTCCTCCAATAAAGCTCT	0.438								Non-homologous end-joining																														uc003bao.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|lung(1)|kidney(1)	5						c.(853-855)CCA>CCC	Direct_reversal_of_damage|NHEJ	ATP-dependent DNA helicase II, 70 kDa subunit							125.0	136.0	133.0					22																	42042981		2203	4300	6503	SO:0001819	synonymous_variant	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42042981A>C	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.855A>C	22.37:g.42042981A>C						XRCC6_uc003bap.1_Silent_p.P244P|XRCC6_uc011apc.1_Silent_p.P235P|XRCC6_uc003baq.1_Silent_p.P285P|XRCC6_uc003bar.1_Silent_p.P285P|XRCC6_uc003bas.1_Silent_p.P235P	p.P285P	NM_001469	NP_001460	P12956	XRCC6_HUMAN			7	925	+			285			Ku.		B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Silent	SNP	ENST00000359308.4	37	c.855A>C	CCDS14021.1																																																																																				PASS	0.438	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		142	237	142	237	---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	43933266	43933266	+	Missense_Mutation	SNP	C	C	A	rs369802355		TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr22:43933266C>A	ENST00000262726.7	-	29	4292	c.4039G>T	c.(4039-4041)Gat>Tat	p.D1347Y	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.D1195Y|EFCAB6-AS1_ENST00000431327.3_RNA	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1347	Interaction with PARK7.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.D1347Y(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCCAGGAAATCGGAGGCGTTG	0.577																																						uc003bdy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(4039-4041)GAT>TAT		CAP-binding protein complex interacting protein							142.0	140.0	141.0					22																	43933266		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43933266C>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.4039G>T	22.37:g.43933266C>A	ENSP00000262726:p.Asp1347Tyr					EFCAB6_uc003bdz.1_Missense_Mutation_p.D1195Y|EFCAB6_uc010gzi.1_Missense_Mutation_p.D1195Y	p.D1347Y	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			29	4254	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1347			Interaction with PARK7.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.4039G>T	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371392	0.61624	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.09723	2.95;2.95	4.71	4.71	0.59529	EF-hand-like domain (1);	0.409870	0.24076	N	0.041779	T	0.18299	0.0439	L	0.29908	0.895	0.80722	D	1	D	0.55385	0.971	P	0.56788	0.806	T	0.01305	-1.1390	10	0.66056	D	0.02	-9.5676	15.4299	0.75084	0.0:1.0:0.0:0.0	.	1347	Q5THR3	EFCB6_HUMAN	Y	1195;1347	ENSP00000379533:D1195Y;ENSP00000262726:D1347Y	ENSP00000262726:D1347Y	D	-	1	0	EFCAB6	42264599	0.935000	0.31712	0.570000	0.28473	0.223000	0.24884	3.019000	0.49635	2.155000	0.67459	0.655000	0.94253	GAT		PASS	0.577	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		110	120	110	120	---	---	---	---
GRAMD4	23151	broad.mit.edu	37	22	47059980	47059980	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr22:47059980G>A	ENST00000406902.1	+	8	896	c.683G>A	c.(682-684)tGg>tAg	p.W228*	GRAMD4_ENST00000361034.3_Nonsense_Mutation_p.W228*			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	228					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.W228*(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		TTATCCGACTGGTACTCCGTC	0.592																																						uc003bhx.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(682-684)TGG>TAG		death-inducing-protein							207.0	155.0	173.0					22																	47059980		2203	4300	6503	SO:0001587	stop_gained	23151				apoptosis	integral to membrane|mitochondrial membrane		g.chr22:47059980G>A		CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.683G>A	22.37:g.47059980G>A	ENSP00000385689:p.Trp228*					GRAMD4_uc010had.2_Nonsense_Mutation_p.W167*	p.W228*	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)	7	722	+		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)	228					A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Nonsense_Mutation	SNP	ENST00000406902.1	37	c.683G>A	CCDS33672.1	.	.	.	.	.	.	.	.	.	.	G	36	5.836402	0.97009	.	.	ENSG00000075240	ENST00000406902;ENST00000361034	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.0989	15.9154	0.79512	0.0:0.0:1.0:0.0	.	.	.	.	X	228	.	ENSP00000354313:W228X	W	+	2	0	GRAMD4	45438644	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.155000	0.77445	2.430000	0.82344	0.555000	0.69702	TGG		PASS	0.592	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317969.1	NM_015124		7	164	7	164	---	---	---	---
KLHDC7B	113730	broad.mit.edu	37	22	50987715	50987715	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr22:50987715G>A	ENST00000395676.2	+	1	1254	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	374								p.E275K(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGCTCCAACGAGGTCTTCTG	0.662																																						uc003bmi.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1120-1122)GAG>AAG		kelch domain containing 7B							40.0	44.0	43.0					22																	50987715		2191	4276	6467	SO:0001583	missense	113730							g.chr22:50987715G>A	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1120G>A	22.37:g.50987715G>A	ENSP00000379034:p.Glu374Lys						p.E374K	NM_138433	NP_612442	Q96G42	KLD7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	1	1254	+		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	374			Kelch 2.			Missense_Mutation	SNP	ENST00000395676.2	37	c.1120G>A	CCDS14097.2	.	.	.	.	.	.	.	.	.	.	G	10.40	1.338912	0.24253	.	.	ENSG00000130487	ENST00000395676	T	0.75050	-0.9	5.35	-0.35	0.12606	Kelch-type beta propeller (1);	0.792718	0.10579	N	0.658107	T	0.49541	0.1563	N	0.11651	0.15	0.09310	N	1	B	0.13145	0.007	B	0.19148	0.024	T	0.31888	-0.9927	10	0.09338	T	0.73	.	8.343	0.32254	0.1249:0.5698:0.3053:0.0	.	374	Q96G42	KLD7B_HUMAN	K	374	ENSP00000379034:E374K	ENSP00000379034:E374K	E	+	1	0	KLHDC7B	49334581	0.001000	0.12720	0.194000	0.23346	0.956000	0.61745	0.499000	0.22546	0.066000	0.16515	0.491000	0.48974	GAG		PASS	0.662	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	NM_138433		7	119	7	119	---	---	---	---
SH3KBP1	30011	broad.mit.edu	37	X	19713856	19713856	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:19713856C>T	ENST00000397821.3	-	5	684	c.394G>A	c.(394-396)Gag>Aag	p.E132K	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.E132K|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.E95K	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	132	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.E132K(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CATCCTTCCTCTACCTGCAGA	0.473																																						uc004czm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(394-396)GAG>AAG		SH3-domain kinase binding protein 1 isoform a							107.0	89.0	95.0					X																	19713856		2203	4300	6503	SO:0001583	missense	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19713856C>T	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.394G>A	X.37:g.19713856C>T	ENSP00000380921:p.Glu132Lys					SH3KBP1_uc004czl.2_Missense_Mutation_p.E95K	p.E132K	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN			5	710	-			132			SH3 2.		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	c.394G>A	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	C	34	5.382642	0.95967	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000397804;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234;ENST00000431164	T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44	6.08	6.08	0.98989	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.58595	0.2133	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.995	T	0.59695	-0.7406	10	0.87932	D	0	-20.0447	19.5097	0.95137	0.0:1.0:0.0:0.0	.	132;95	Q96B97;Q5JPT5	SH3K1_HUMAN;.	K	73;132;40;95;68;132;79;40	ENSP00000380921:E132K;ENSP00000369020:E95K;ENSP00000369049:E68K;ENSP00000369019:E132K;ENSP00000388766:E79K;ENSP00000409292:E40K	ENSP00000369019:E132K	E	-	1	0	SH3KBP1	19623777	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.214000	0.77958	2.562000	0.86427	0.600000	0.82982	GAG		PASS	0.473	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		10	350	10	350	---	---	---	---
SH3KBP1	30011	broad.mit.edu	37	X	19764486	19764486	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:19764486C>A	ENST00000397821.3	-	3	526	c.236G>T	c.(235-237)aGt>aTt	p.S79I	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.S79I|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.S42I	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	79					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.S79I(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						AGAGTTTCCACTGGGCACTTC	0.428																																						uc004czm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(235-237)AGT>ATT		SH3-domain kinase binding protein 1 isoform a							136.0	130.0	132.0					X																	19764486		2203	4300	6503	SO:0001583	missense	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19764486C>A	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.236G>T	X.37:g.19764486C>A	ENSP00000380921:p.Ser79Ile					SH3KBP1_uc004czl.2_Missense_Mutation_p.S42I	p.S79I	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN			3	552	-			79					B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	c.236G>T	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506588	0.44558	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234	T;T;T;T;T	0.52057	1.34;1.43;1.26;0.99;0.68	5.84	4.87	0.63330	.	1.600950	0.02938	N	0.140097	T	0.39064	0.1064	L	0.36672	1.1	0.80722	D	1	P;B	0.34780	0.468;0.077	B;B	0.29942	0.109;0.034	T	0.56408	-0.7984	10	0.87932	D	0	-0.4256	4.5438	0.12071	0.0:0.752:0.0:0.248	.	79;42	Q96B97;Q5JPT5	SH3K1_HUMAN;.	I	20;79;42;15;79;26	ENSP00000380921:S79I;ENSP00000369020:S42I;ENSP00000369049:S15I;ENSP00000369019:S79I;ENSP00000388766:S26I	ENSP00000369019:S79I	S	-	2	0	SH3KBP1	19674407	1.000000	0.71417	0.993000	0.49108	0.874000	0.50279	2.099000	0.41767	2.449000	0.82847	0.600000	0.82982	AGT		PASS	0.428	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		439	172	439	172	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21608737	21608737	+	Splice_Site	SNP	A	A	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:21608737A>C	ENST00000379510.3	+	14	1692	c.1656A>C	c.(1654-1656)aaA>aaC	p.K552N	CNKSR2_ENST00000543067.1_Splice_Site_p.K503N|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000279451.4_Splice_Site_p.K552N|CNKSR2_ENST00000425654.2_Splice_Site_p.K522N	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	552					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.K552N(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AGAAAAACAAAGGTAAGAAAA	0.403																																						uc004czx.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)	2						c.(1654-1656)AAA>AAC		connector enhancer of kinase suppressor of Ras							121.0	101.0	108.0					X																	21608737		2203	4300	6503	SO:0001630	splice_region_variant	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21608737A>C	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.1657+1A>C	X.37:g.21608737A>C						CNKSR2_uc004czw.2_Missense_Mutation_p.K552N|CNKSR2_uc011mjn.1_Missense_Mutation_p.K503N|CNKSR2_uc011mjo.1_Missense_Mutation_p.K522N|CNKSR2_uc004czy.2_Missense_Mutation_p.K144N	p.K552N	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			14	1692	+			552					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.1656A>C	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.633995	0.87660	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	5.48	5.48	0.80851	.	0.090663	0.85682	D	0.000000	T	0.30916	0.0780	L	0.58101	1.795	0.58432	D	0.999999	D;P;D;D	0.71674	0.992;0.839;0.998;0.996	P;B;P;P	0.61800	0.849;0.347;0.893;0.894	T	0.02167	-1.1202	10	0.72032	D	0.01	-11.7698	14.4398	0.67309	1.0:0.0:0.0:0.0	.	522;503;144;552	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	N	522;503;552;552	ENSP00000397906:K522N;ENSP00000444633:K503N;ENSP00000279451:K552N;ENSP00000368824:K552N	ENSP00000279451:K552N	K	+	3	2	CNKSR2	21518658	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.114000	0.89570	1.938000	0.56188	0.437000	0.28790	AAA		PASS	0.403	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927	Missense_Mutation	67	26	67	26	---	---	---	---
MBTPS2	51360	broad.mit.edu	37	X	21896174	21896174	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:21896174G>C	ENST00000379484.5	+	8	1084	c.985G>C	c.(985-987)Gat>Cat	p.D329H		NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	329	Cys-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.D329H(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CAAACGACTAGATGGTTCAAC	0.323																																						uc004dae.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(985-987)GAT>CAT		membrane-bound transcription factor peptidase,							81.0	75.0	77.0					X																	21896174		2203	4300	6503	SO:0001583	missense	51360				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	g.chrX:21896174G>C	AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.985G>C	X.37:g.21896174G>C	ENSP00000368798:p.Asp329His					MBTPS2_uc010nfr.2_Intron	p.D329H	NM_015884	NP_056968	O43462	MBTP2_HUMAN			8	1182	+			329			Cys-rich.|Lumenal (Probable).		Q9UM70|Q9UMD3	Missense_Mutation	SNP	ENST00000379484.5	37	c.985G>C	CCDS14201.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473740	0.63737	.	.	ENSG00000012174	ENST00000379484	D	0.94046	-3.34	5.33	5.33	0.75918	Peptidase M50 (1);	0.000000	0.85682	D	0.000000	D	0.94863	0.8340	M	0.72479	2.2	0.80722	D	1	P	0.45634	0.863	P	0.50570	0.644	D	0.94853	0.8015	10	0.52906	T	0.07	-25.8449	18.1626	0.89714	0.0:0.0:1.0:0.0	.	329	O43462	MBTP2_HUMAN	H	329	ENSP00000368798:D329H	ENSP00000368798:D329H	D	+	1	0	MBTPS2	21806095	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.963000	0.87922	2.482000	0.83794	0.508000	0.49915	GAT		PASS	0.323	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1			10	299	10	299	---	---	---	---
MBTPS2	51360	broad.mit.edu	37	X	21896718	21896718	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:21896718C>T	ENST00000379484.5	+	9	1268	c.1169C>T	c.(1168-1170)tCt>tTt	p.S390F		NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	390					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.S390F(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						ATAATACCTTCTTTGGAAACT	0.388																																						uc004dae.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1168-1170)TCT>TTT		membrane-bound transcription factor peptidase,							127.0	123.0	125.0					X																	21896718		2203	4300	6503	SO:0001583	missense	51360				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	g.chrX:21896718C>T	AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.1169C>T	X.37:g.21896718C>T	ENSP00000368798:p.Ser390Phe					MBTPS2_uc010nfr.2_5'UTR	p.S390F	NM_015884	NP_056968	O43462	MBTP2_HUMAN			9	1366	+			390			Lumenal (Probable).		Q9UM70|Q9UMD3	Missense_Mutation	SNP	ENST00000379484.5	37	c.1169C>T	CCDS14201.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150719	0.78001	.	.	ENSG00000012174	ENST00000379484	D	0.94000	-3.33	5.56	5.56	0.83823	Peptidase M50 (1);	0.217067	0.49916	D	0.000137	D	0.94624	0.8267	M	0.74258	2.255	0.80722	D	1	P	0.38335	0.627	P	0.45998	0.5	D	0.93495	0.6839	10	0.31617	T	0.26	-8.4095	18.611	0.91285	0.0:1.0:0.0:0.0	.	390	O43462	MBTP2_HUMAN	F	390	ENSP00000368798:S390F	ENSP00000368798:S390F	S	+	2	0	MBTPS2	21806639	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.495000	0.73665	2.338000	0.79540	0.600000	0.82982	TCT		PASS	0.388	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1			177	355	177	355	---	---	---	---
SMS	6611	broad.mit.edu	37	X	21995302	21995302	+	Missense_Mutation	SNP	A	A	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:21995302A>T	ENST00000404933.2	+	5	705	c.453A>T	c.(451-453)aaA>aaT	p.K151N	SMS_ENST00000478094.1_3'UTR|SMS_ENST00000415881.2_Missense_Mutation_p.K55N|SMS_ENST00000379404.1_Missense_Mutation_p.K98N	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	151	PABS. {ECO:0000255|PROSITE- ProRule:PRU00354}.				cellular nitrogen compound metabolic process (GO:0034641)|methionine metabolic process (GO:0006555)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	spermidine synthase activity (GO:0004766)|spermine synthase activity (GO:0016768)	p.K151N(1)|p.K55N(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	AAAATATAAAAATTCTACACT	0.443																																						uc004dag.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(451-453)AAA>AAT		spermine synthase	Spermine(DB00127)						75.0	77.0	76.0					X																	21995302		2203	4300	6503	SO:0001583	missense	6611				methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity	g.chrX:21995302A>T	AD001528	CCDS14203.1, CCDS59161.1	Xp22.1	2014-05-16			ENSG00000102172	ENSG00000102172			11123	protein-coding gene	gene with protein product		300105	"""Snyder-Robinson X-linked mental retardation syndrome"""	SRS		7546290, 9299240, 14508504	Standard	NM_004595		Approved	SPMSY, SpS, MRSR	uc004dag.4	P52788	OTTHUMG00000021239	ENST00000404933.2:c.453A>T	X.37:g.21995302A>T	ENSP00000385746:p.Lys151Asn					SMS_uc011mjq.1_Missense_Mutation_p.K55N|SMS_uc004daf.1_Missense_Mutation_p.K98N|SMS_uc010nfs.2_5'Flank|SMS_uc010nft.2_5'Flank	p.K151N	NM_004595	NP_004586	P52788	SPSY_HUMAN			5	554	+			151					A6NHA7|A6NI34|B2R9M0|O00544|Q9UQS1	Missense_Mutation	SNP	ENST00000404933.2	37	c.453A>T	CCDS14203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.05|16.05	3.013628|3.013628	0.54468|0.54468	.|.	.|.	ENSG00000102172|ENSG00000102172	ENST00000404933;ENST00000379404;ENST00000415881|ENST00000457085	T;T;T|.	0.77229|.	-1.08;-1.08;-1.08|.	5.73|5.73	3.4|3.4	0.38934|0.38934	.|.	0.083950|.	0.85682|.	D|.	0.000000|.	T|T	0.64951|0.64951	0.2645|0.2645	M|M	0.69823|0.69823	2.125|2.125	0.48040|0.48040	D|D	0.999571|0.999571	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.77004|.	0.981;0.989|.	T|T	0.64892|0.64892	-0.6300|-0.6300	10|5	0.30854|.	T|.	0.27|.	-0.5063|-0.5063	9.6319|9.6319	0.39785|0.39785	0.8677:0.0:0.1323:0.0|0.8677:0.0:0.1323:0.0	.|.	151;98|.	P52788;P52788-2|.	SPSY_HUMAN;.|.	N|Y	151;98;55|243	ENSP00000385746:K151N;ENSP00000368714:K98N;ENSP00000388906:K55N|.	ENSP00000368714:K98N|.	K|N	+|+	3|1	2|0	SMS|SMS	21905223|21905223	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.320000|0.320000	0.28249|0.28249	1.595000|1.595000	0.36708|0.36708	1.921000|1.921000	0.55644|0.55644	0.486000|0.486000	0.48141|0.48141	AAA|AAT		PASS	0.443	SMS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056032.1	NM_004595		15	349	15	349	---	---	---	---
IL1RAPL1	11141	broad.mit.edu	37	X	29972810	29972810	+	Splice_Site	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:29972810G>T	ENST00000378993.1	+	10	2045		c.e10+1		IL1RAPL1_ENST00000302196.4_Splice_Site	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1						calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.?(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CCAACTGGAAGTAAGTTAATG	0.328																																						uc004dby.2																			2	Unknown(2)		lung(2)	ovary(3)|lung(1)|pancreas(1)	5						c.e10+1		interleukin 1 receptor accessory protein-like 1							65.0	62.0	63.0					X																	29972810		2202	4300	6502	SO:0001630	splice_region_variant	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29972810G>T	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1372+1G>T	X.37:g.29972810G>T							p.T458_splice	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			10	1880	+								A0AVG4|Q9UJ53	Splice_Site	SNP	ENST00000378993.1	37	c.1372_splice	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.639335	0.87760	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2241	0.89911	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL1RAPL1	29882731	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.328000	0.79073	0.594000	0.82650	.		PASS	0.328	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271	Intron	68	170	68	170	---	---	---	---
NR0B1	190	broad.mit.edu	37	X	30326750	30326750	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:30326750C>A	ENST00000378970.4	-	1	965	c.731G>T	c.(730-732)cGg>cTg	p.R244L	NR0B1_ENST00000378963.1_5'Flank|NR0B1_ENST00000453287.1_Missense_Mutation_p.R244L	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	244	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|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)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.R244L(1)		central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CGCCACCGGCCGCAGCGCACC	0.672											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dcf.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(730-732)CGG>CTG		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						11.0	10.0	10.0					X																	30326750		2152	4183	6335	SO:0001583	missense	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30326750C>A	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.731G>T	X.37:g.30326750C>A	ENSP00000368253:p.Arg244Leu		OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	816		p.R244L	NM_000475	NP_000466	P51843	NR0B1_HUMAN			1	746	-			244			4; truncated.|4 X 67 AA tandem repeats.		Q96F69	Missense_Mutation	SNP	ENST00000378970.4	37	c.731G>T	CCDS14223.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806956	0.31961	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.98822	-5.16;-5.16	4.47	2.7	0.31948	Nuclear hormone receptor, ligand-binding (2);	0.193281	0.42821	D	0.000650	D	0.97942	0.9323	L	0.49126	1.545	0.34095	D	0.661143	D	0.64830	0.994	P	0.59825	0.864	D	0.98440	1.0586	10	0.72032	D	0.01	-28.3825	7.6093	0.28120	0.0:0.7297:0.0:0.2703	.	244	P51843	NR0B1_HUMAN	L	244	ENSP00000368253:R244L;ENSP00000396403:R244L	ENSP00000368253:R244L	R	-	2	0	NR0B1	30236671	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.844000	0.27654	0.458000	0.26988	0.513000	0.50165	CGG		PASS	0.672	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		28	12	28	12	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50130570	50130570	+	RNA	SNP	T	T	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:50130570T>C	ENST00000376025.2	-	0	2159							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.I496M(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCACAGACACTATTGCAGTGT	0.388																																						uc010njr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(2098-2100)ATA>ATG		diacylglycerol kinase kappa							97.0	80.0	85.0					X																	50130570		1863	4096	5959			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50130570T>C	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50130570T>C							p.I700M	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			14	2160	-	Ovarian(276;0.236)		700					B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37	c.2100A>G																																																																																					PASS	0.388	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		13	43	13	43	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53587154	53587154	+	Silent	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:53587154C>A	ENST00000342160.3	-	55	8188	c.7731G>T	c.(7729-7731)ctG>ctT	p.L2577L	HUWE1_ENST00000262854.6_Silent_p.L2577L|MIRLET7F2_ENST00000385277.1_RNA			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2577					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.L2577L(1)|p.L2440L(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTCACCTCTGCAGTATAAGAG	0.498																																						uc004dsp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(7729-7731)CTG>CTT		HECT, UBA and WWE domain containing 1							49.0	33.0	39.0					X																	53587154		2193	4271	6464	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53587154C>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7731G>T	X.37:g.53587154C>A						HUWE1_uc004dsn.2_Silent_p.L1401L|uc004dss.2_5'Flank|MIRLET7F2_hsa-let-7f-2|MI0000068_5'Flank	p.L2577L	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			56	8133	-			2577					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.7731G>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	6.878	0.531441	0.13127	.	.	ENSG00000086758	ENST00000427052	.	.	.	5.6	-5.34	0.02705	.	.	.	.	.	T	0.38453	0.1041	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38134	-0.9675	4	.	.	.	.	2.9301	0.05796	0.3712:0.251:0.2911:0.0867	.	.	.	.	S	1611	.	.	A	-	1	0	HUWE1	53603879	0.276000	0.24211	0.921000	0.36526	0.987000	0.75469	-0.350000	0.07721	-0.970000	0.03569	-0.185000	0.12909	GCA		PASS	0.498	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		6	13	6	13	---	---	---	---
FGD1	2245	broad.mit.edu	37	X	54482795	54482795	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:54482795C>T	ENST00000375135.3	-	10	2433	c.1700G>A	c.(1699-1701)cGa>cAa	p.R567Q		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	567					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.R567Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTTATGCATTCGCTCCTGGCA	0.547																																						uc004dtg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1699-1701)CGA>CAA		faciogenital dysplasia protein							62.0	45.0	51.0					X																	54482795		2203	4300	6503	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54482795C>T	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.1700G>A	X.37:g.54482795C>T	ENSP00000364277:p.Arg567Gln					FGD1_uc011moi.1_Missense_Mutation_p.R325Q	p.R567Q	NM_004463	NP_004454	P98174	FGD1_HUMAN			10	2434	-			567					Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.1700G>A	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682186	0.47991	.	.	ENSG00000102302	ENST00000375135	T	0.68331	-0.32	4.37	4.37	0.52481	Dbl homology (DH) domain (1);	0.000000	0.41097	D	0.000941	T	0.52092	0.1713	L	0.34521	1.04	0.33368	D	0.573214	P;B	0.38922	0.651;0.32	B;B	0.28232	0.087;0.056	T	0.70019	-0.4987	10	0.62326	D	0.03	-3.7447	15.1389	0.72595	0.0:1.0:0.0:0.0	.	325;567	B4DS99;P98174	.;FGD1_HUMAN	Q	567	ENSP00000364277:R567Q	ENSP00000364277:R567Q	R	-	2	0	FGD1	54499520	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.979000	0.40608	2.166000	0.68216	0.513000	0.50165	CGA		PASS	0.547	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		31	64	31	64	---	---	---	---
ARHGEF9	23229	broad.mit.edu	37	X	62944454	62944454	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:62944454C>A	ENST00000253401.6	-	2	947	c.147G>T	c.(145-147)caG>caT	p.Q49H	ARHGEF9_ENST00000374878.1_Missense_Mutation_p.Q47H|ARHGEF9_ENST00000374870.4_Intron|ARHGEF9_ENST00000437457.2_Intron|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.Q28H	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	49	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q49H(1)|p.Q47H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CATCGTCGATCTGGCCCCACC	0.537																																						uc004dvl.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8						c.(145-147)CAG>CAT		Cdc42 guanine exchange factor 9							153.0	97.0	116.0					X																	62944454		2203	4300	6503	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62944454C>A	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.147G>T	X.37:g.62944454C>A	ENSP00000253401:p.Gln49His					ARHGEF9_uc004dvj.1_Intron|ARHGEF9_uc004dvk.1_5'UTR|ARHGEF9_uc011mos.1_Missense_Mutation_p.Q28H|ARHGEF9_uc004dvm.1_Missense_Mutation_p.Q28H|ARHGEF9_uc011mot.1_Intron|ARHGEF9_uc004dvn.2_Missense_Mutation_p.Q56H	p.Q49H	NM_015185	NP_056000	O43307	ARHG9_HUMAN			2	986	-			49			SH3.		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.147G>T	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535350	0.64972	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000374872	T;T;T	0.50277	0.75;0.75;0.75	5.55	3.78	0.43462	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.64402	D	0.000001	T	0.50188	0.1601	L	0.28458	0.855	0.80722	D	1	D;D	0.57571	0.98;0.98	P;P	0.60236	0.871;0.871	T	0.48031	-0.9070	10	0.62326	D	0.03	.	10.0879	0.42430	0.0:0.8313:0.0:0.1687	.	47;49	B1AMR4;O43307	.;ARHG9_HUMAN	H	49;47;28	ENSP00000253401:Q49H;ENSP00000364012:Q47H;ENSP00000364006:Q28H	ENSP00000253401:Q49H	Q	-	3	2	ARHGEF9	62861179	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.465000	0.45075	0.513000	0.28278	0.550000	0.68814	CAG		PASS	0.537	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			54	36	54	36	---	---	---	---
MSN	4478	broad.mit.edu	37	X	64949369	64949369	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:64949369G>C	ENST00000360270.5	+	4	434	c.262G>C	c.(262-264)Gat>Cat	p.D88H		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	88	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)	p.D88H(1)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						CTACCCTGAGGATGTGTCCGA	0.502			T	ALK	ALCL																																	uc004dwf.2				Dom	yes		X	Xq11.2-q12	4478	T	moesin			L	ALK		ALCL	MSN/ALK(6)	1	Substitution - Missense(1)	p.D88A(1)	lung(1)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						c.(262-264)GAT>CAT		moesin							120.0	98.0	106.0					X																	64949369		2203	4300	6503	SO:0001583	missense	4478				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	g.chrX:64949369G>C	M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.262G>C	X.37:g.64949369G>C	ENSP00000353408:p.Asp88His						p.D88H	NM_002444	NP_002435	P26038	MOES_HUMAN			4	460	+			88			FERM.			Missense_Mutation	SNP	ENST00000360270.5	37	c.262G>C	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890887	0.91889	.	.	ENSG00000147065	ENST00000360270	D	0.84873	-1.91	5.99	5.99	0.97316	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94932	0.8361	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96070	0.9045	10	0.87932	D	0	.	17.811	0.88616	0.0:0.0:1.0:0.0	.	88	P26038	MOES_HUMAN	H	88	ENSP00000353408:D88H	ENSP00000353408:D88H	D	+	1	0	MSN	64866094	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.760000	0.98935	2.536000	0.85505	0.600000	0.82982	GAT		PASS	0.502	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		132	109	132	109	---	---	---	---
VSIG4	11326	broad.mit.edu	37	X	65252493	65252493	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:65252493G>A	ENST00000374737.4	-	3	619	c.511C>T	c.(511-513)Cct>Tct	p.P171S	VSIG4_ENST00000412866.2_Intron|VSIG4_ENST00000455586.2_Missense_Mutation_p.P171S	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	171	Ig-like 2.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.P171S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGATGGGAGGAGAACCCCGA	0.502																																						uc004dwh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(511-513)CCT>TCT		V-set and immunoglobulin domain containing 4							131.0	113.0	119.0					X																	65252493		2203	4300	6503	SO:0001583	missense	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65252493G>A	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.511C>T	X.37:g.65252493G>A	ENSP00000363869:p.Pro171Ser					VSIG4_uc004dwi.2_Intron|VSIG4_uc010nkq.1_Missense_Mutation_p.P171S|VSIG4_uc004dwj.2_Missense_Mutation_p.P171S|VSIG4_uc011moy.1_Intron|VSIG4_uc004dwk.2_Missense_Mutation_p.P171S|VSIG4_uc004dwl.2_Missense_Mutation_p.P67S	p.P171S	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN			3	638	-			171			Ig-like 2.|Extracellular (Potential).		Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	c.511C>T	CCDS14383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.48|13.48	2.249157|2.249157	0.39797|0.39797	.|.	.|.	ENSG00000155659|ENSG00000155659	ENST00000374737;ENST00000455586;ENST00000423830|ENST00000427538	T;T;T|T	0.03920|0.03124	3.76;3.76;3.76|4.04	3.91|3.91	3.91|3.91	0.45181|0.45181	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.125818|.	0.36066|.	N|.	0.002801|.	T|T	0.18045|0.18045	0.0433|0.0433	M|M	0.93978|0.93978	3.48|3.48	0.30126|0.30126	N|N	0.805266|0.805266	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.999;0.998;0.998|.	T|T	0.03852|0.03852	-1.0998|-1.0998	10|7	0.62326|0.33940	D|T	0.03|0.23	-7.6869|-7.6869	10.7649|10.7649	0.46288|0.46288	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	171;94;161;171|.	Q9Y279-2;C9JTJ4;C9JH67;Q9Y279|.	.;.;.;VSIG4_HUMAN|.	S|F	171;171;94|97	ENSP00000363869:P171S;ENSP00000411581:P171S;ENSP00000414594:P94S|ENSP00000393108:S97F	ENSP00000363869:P171S|ENSP00000393108:S97F	P|S	-|-	1|2	0|0	VSIG4|VSIG4	65169218|65169218	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.636000|0.636000	0.38137|0.38137	3.595000|3.595000	0.54016|0.54016	1.551000|1.551000	0.49450|0.49450	0.506000|0.506000	0.49869|0.49869	CCT|TCC		PASS	0.502	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		4	99	4	99	---	---	---	---
FAM155B	27112	broad.mit.edu	37	X	68725502	68725502	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:68725502C>A	ENST00000252338.4	+	1	419	c.377C>A	c.(376-378)cCc>cAc	p.P126H	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	126						integral component of membrane (GO:0016021)		p.P126H(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						AAAGCCGCCCCCGCCGCCGGC	0.726																																						uc004dxk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(376-378)CCC>CAC		transmembrane protein 28							7.0	9.0	8.0					X																	68725502		1802	3851	5653	SO:0001583	missense	27112					integral to membrane		g.chrX:68725502C>A	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"""transmembrane protein 28"", ""chromosome X open reading frame 63"""	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.377C>A	X.37:g.68725502C>A	ENSP00000252338:p.Pro126His						p.P126H	NM_015686	NP_056501	O75949	F155B_HUMAN			1	425	+			126					B1ALV6|B9EGK1|D3DVU1	Missense_Mutation	SNP	ENST00000252338.4	37	c.377C>A	CCDS35317.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235810	0.39498	.	.	ENSG00000130054	ENST00000252338	T	0.59772	0.24	4.2	4.2	0.49525	.	0.290426	0.26414	N	0.024501	T	0.43122	0.1233	N	0.19112	0.55	0.32444	N	0.546301	P	0.42123	0.771	B	0.39617	0.305	T	0.60444	-0.7262	10	0.66056	D	0.02	-1.166	13.1019	0.59224	0.0:1.0:0.0:0.0	.	126	O75949-2	.	H	126	ENSP00000252338:P126H	ENSP00000252338:P126H	P	+	2	0	FAM155B	68642227	.	.	0.983000	0.44433	0.874000	0.50279	.	.	1.947000	0.56498	0.279000	0.19357	CCC		PASS	0.726	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686		3	14	3	14	---	---	---	---
IGBP1	3476	broad.mit.edu	37	X	69353813	69353813	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:69353813G>A	ENST00000342206.6	+	1	515	c.16G>A	c.(16-18)Gag>Aag	p.E6K	IGBP1_ENST00000356413.4_Missense_Mutation_p.E6K			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	6					B cell activation (GO:0042113)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dephosphorylation (GO:0035306)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microtubule-based movement (GO:0060632)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	protein phosphatase type 2A regulator activity (GO:0008601)	p.E6K(1)		kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						TGCTGAGGACGAGTTACAGCT	0.552											OREG0019849	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(167;1189 1558 6576 8216 30387 37980 41450)	uc004dxv.2																			1	Substitution - Missense(1)	p.E6V(1)	lung(1)	kidney(1)|pancreas(1)	2						c.(16-18)GAG>AAG		immunoglobulin binding protein 1							24.0	22.0	23.0					X																	69353813		2203	4300	6503	SO:0001583	missense	3476				B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity	g.chrX:69353813G>A	Y08915	CCDS14396.1	Xq13.1-q13.3	2008-02-05			ENSG00000089289	ENSG00000089289			5461	protein-coding gene	gene with protein product	"""alpha 4"""	300139		IBP1		9441740	Standard	NM_001551		Approved		uc004dxw.3	P78318	OTTHUMG00000021767	ENST00000342206.6:c.16G>A	X.37:g.69353813G>A	ENSP00000363661:p.Glu6Lys		OREG0019849	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1114	IGBP1_uc004dxw.2_Missense_Mutation_p.E6K	p.E6K	NM_001551	NP_001542	P78318	IGBP1_HUMAN			1	515	+			6					Q8TAB2	Missense_Mutation	SNP	ENST00000342206.6	37	c.16G>A	CCDS14396.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.697251	0.30142	.	.	ENSG00000089289	ENST00000342206;ENST00000356413	T;T	0.50001	0.76;0.76	4.75	3.88	0.44766	.	0.662170	0.15988	N	0.234960	T	0.39517	0.1081	L	0.45137	1.4	0.09310	N	0.999999	B	0.18310	0.027	B	0.14578	0.011	T	0.33954	-0.9848	10	0.56958	D	0.05	.	9.8058	0.40792	0.104:0.0:0.896:0.0	.	6	P78318	IGBP1_HUMAN	K	6	ENSP00000363661:E6K;ENSP00000348784:E6K	ENSP00000363661:E6K	E	+	1	0	IGBP1	69270538	0.020000	0.18652	0.202000	0.23494	0.254000	0.26022	1.695000	0.37763	1.113000	0.41760	0.600000	0.82982	GAG		PASS	0.552	IGBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057052.1			3	39	3	39	---	---	---	---
TEX11	56159	broad.mit.edu	37	X	69871348	69871348	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:69871348G>A	ENST00000395889.2	-	18	1635	c.1480C>T	c.(1480-1482)Caa>Taa	p.Q494*	TEX11_ENST00000374333.2_Nonsense_Mutation_p.Q479*|TEX11_ENST00000344304.3_Nonsense_Mutation_p.Q494*|TEX11_ENST00000374320.2_Nonsense_Mutation_p.Q169*	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	494					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.Q479*(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					ATATAAAATTGAGTGAAAACG	0.343																																						uc004dyl.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|breast(1)|skin(1)	5						c.(1480-1482)CAA>TAA		testis expressed sequence 11 isoform 1							47.0	45.0	45.0					X																	69871348		2202	4300	6502	SO:0001587	stop_gained	56159						protein binding	g.chrX:69871348G>A	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1480C>T	X.37:g.69871348G>A	ENSP00000379226:p.Gln494*					TEX11_uc004dyk.2_Nonsense_Mutation_p.Q169*|TEX11_uc004dym.2_Nonsense_Mutation_p.Q479*	p.Q494*	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN			18	1642	-	Renal(35;0.156)		494					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Nonsense_Mutation	SNP	ENST00000395889.2	37	c.1480C>T	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	G	33	5.249730	0.95305	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	.	.	.	2.98	2.98	0.34508	.	0.161373	0.41605	D	0.000852	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0212	8.7125	0.34393	0.0:0.0:1.0:0.0	.	.	.	.	X	479;494;169;494	.	.	Q	-	1	0	TEX11	69788073	0.998000	0.40836	0.917000	0.36280	0.268000	0.26511	3.088000	0.50175	1.476000	0.48215	0.513000	0.50165	CAA		PASS	0.343	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			6	107	6	107	---	---	---	---
ARMCX5	64860	broad.mit.edu	37	X	101857187	101857187	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:101857187G>A	ENST00000604957.1	+	1	2740	c.118G>A	c.(118-120)Gct>Act	p.A40T	ARMCX5_ENST00000537008.1_Missense_Mutation_p.A40T|ARMCX5_ENST00000541409.1_Missense_Mutation_p.A40T|ARMCX5_ENST00000246174.2_Missense_Mutation_p.A40T|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000372742.1_Missense_Mutation_p.A40T|ARMCX5_ENST00000536530.1_Missense_Mutation_p.A40T|RP4-769N13.7_ENST00000602441.1_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	40								p.A40T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						CGAGGCAGTGGCTGAGGCAGA	0.542																																						uc004ejg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(118-120)GCT>ACT		armadillo repeat containing, X-linked 5							93.0	76.0	82.0					X																	101857187		2203	4300	6503	SO:0001583	missense	64860						binding	g.chrX:101857187G>A		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.118G>A	X.37:g.101857187G>A	ENSP00000474720:p.Ala40Thr					ARMCX5_uc004ejh.2_Missense_Mutation_p.A40T	p.A40T	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN			6	999	+			40					B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	c.118G>A	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897218	0.33535	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	3.8	2.02	0.26589	.	0.688431	0.12160	N	0.494102	T	0.13543	0.0328	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.23013	-1.0200	10	0.45353	T	0.12	0.4709	5.2477	0.15506	0.3872:0.0:0.6128:0.0	.	40	Q6P1M9	ARMX5_HUMAN	T	40	ENSP00000246174:A40T;ENSP00000439001:A40T;ENSP00000446385:A40T;ENSP00000445851:A40T;ENSP00000361827:A40T	ENSP00000246174:A40T	A	+	1	0	ARMCX5	101743843	0.393000	0.25237	0.001000	0.08648	0.888000	0.51559	0.180000	0.16860	0.410000	0.25675	0.600000	0.82982	GCT		PASS	0.542	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		47	19	47	19	---	---	---	---
GPRASP1	9737	broad.mit.edu	37	X	101912007	101912007	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:101912007C>T	ENST00000361600.5	+	5	3967	c.3166C>T	c.(3166-3168)Cca>Tca	p.P1056S	GPRASP1_ENST00000537097.1_Missense_Mutation_p.P1056S|GPRASP1_ENST00000444152.1_Missense_Mutation_p.P1056S|GPRASP1_ENST00000415986.1_Missense_Mutation_p.P1056S|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1056	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.P1056S(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CAAGCCTGGTCCATGGGGTAG	0.522																																						uc004ejj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(3166-3168)CCA>TCA		G protein-coupled receptor associated sorting							128.0	124.0	125.0					X																	101912007		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101912007C>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3166C>T	X.37:g.101912007C>T	ENSP00000355146:p.Pro1056Ser					GPRASP1_uc004eji.3_Missense_Mutation_p.P1056S|GPRASP1_uc010nod.2_Missense_Mutation_p.P1056S	p.P1056S	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN			5	3967	+			1056			OPRD1-binding.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.3166C>T	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	C	9.831	1.188511	0.21954	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	2.84	2.84	0.33178	.	.	.	.	.	T	0.26882	0.0658	L	0.59436	1.845	0.09310	N	1	D	0.89917	1.0	D	0.69307	0.963	T	0.06643	-1.0815	9	0.24483	T	0.36	-2.6045	8.3575	0.32340	0.0:1.0:0.0:0.0	.	1056	Q5JY77	GASP1_HUMAN	S	1056	ENSP00000393691:P1056S;ENSP00000409420:P1056S;ENSP00000355146:P1056S;ENSP00000445683:P1056S	ENSP00000355146:P1056S	P	+	1	0	GPRASP1	101798663	0.585000	0.26774	0.090000	0.20809	0.886000	0.51366	1.038000	0.30254	1.693000	0.51124	0.284000	0.19432	CCA		PASS	0.522	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		79	336	79	336	---	---	---	---
IL1RAPL2	26280	broad.mit.edu	37	X	104984616	104984616	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:104984616C>A	ENST00000372582.1	+	8	1736	c.980C>A	c.(979-981)gCg>gAg	p.A327E	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.A327E	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	327	Ig-like C2-type 3.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.A327V(1)|p.A327E(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCTGACCTGGCGAATTATACC	0.388																																						uc004elz.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	breast(2)|ovary(1)	3						c.(979-981)GCG>GAG		interleukin 1 receptor accessory protein-like 2							72.0	66.0	68.0					X																	104984616		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104984616C>A	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.980C>A	X.37:g.104984616C>A	ENSP00000361663:p.Ala327Glu						p.A327E	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			8	1736	+			327			Ig-like C2-type 3.|Extracellular (Potential).		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.980C>A	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.542792	0.65198	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.77750	-1.12;-1.12	5.88	5.88	0.94601	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.71500	0.3347	L	0.36672	1.1	0.80722	D	1	P	0.48834	0.916	P	0.48704	0.587	T	0.68773	-0.5320	10	0.05721	T	0.95	.	13.6688	0.62412	0.0:0.8499:0.1501:0.0	.	327	Q9NP60	IRPL2_HUMAN	E	327	ENSP00000361663:A327E;ENSP00000344976:A327E	ENSP00000344976:A327E	A	+	2	0	IL1RAPL2	104871272	1.000000	0.71417	0.981000	0.43875	0.988000	0.76386	5.509000	0.67012	2.474000	0.83562	0.600000	0.82982	GCG		PASS	0.388	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		60	52	60	52	---	---	---	---
MUM1L1	139221	broad.mit.edu	37	X	105450780	105450780	+	Missense_Mutation	SNP	A	A	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:105450780A>C	ENST00000357175.2	+	4	2004	c.1355A>C	c.(1354-1356)cAa>cCa	p.Q452P	MUM1L1_ENST00000337685.2_Missense_Mutation_p.Q452P|MUM1L1_ENST00000372552.1_Missense_Mutation_p.Q452P	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	452	PWWP.					extracellular vesicular exosome (GO:0070062)		p.Q452P(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAAGAGAAACAAATGCTAGTG	0.353																																						uc004emf.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1354-1356)CAA>CCA		melanoma associated antigen (mutated) 1-like 1							73.0	66.0	68.0					X																	105450780		1825	4076	5901	SO:0001583	missense	139221							g.chrX:105450780A>C	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1355A>C	X.37:g.105450780A>C	ENSP00000349699:p.Gln452Pro					MUM1L1_uc004emg.1_Missense_Mutation_p.Q452P	p.Q452P	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN			4	2004	+			452			PWWP.		D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	c.1355A>C	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	A	10.75	1.437642	0.25900	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.71817	-0.6;-0.6;-0.6	4.31	4.31	0.51392	.	0.129000	0.35151	N	0.003401	T	0.75910	0.3914	L	0.58101	1.795	0.36737	D	0.882006	D	0.53885	0.963	P	0.58454	0.839	T	0.81215	-0.1034	10	0.72032	D	0.01	-16.3922	8.8406	0.35140	1.0:0.0:0.0:0.0	.	452	Q5H9M0	MUML1_HUMAN	P	452	ENSP00000349699:Q452P;ENSP00000338641:Q452P;ENSP00000361632:Q452P	ENSP00000338641:Q452P	Q	+	2	0	MUM1L1	105337436	0.137000	0.22531	0.911000	0.35937	0.231000	0.25187	2.240000	0.43088	1.908000	0.55244	0.430000	0.28490	CAA		PASS	0.353	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		33	108	33	108	---	---	---	---
LONRF3	79836	broad.mit.edu	37	X	118109537	118109537	+	Missense_Mutation	SNP	A	A	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:118109537A>T	ENST00000371628.3	+	1	825	c.794A>T	c.(793-795)aAg>aTg	p.K265M	LONRF3_ENST00000304778.7_Missense_Mutation_p.K265M|LONRF3_ENST00000422289.2_5'Flank	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	265							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.K265M(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GCACTGCTCAAGTACAACGAG	0.667																																						uc004eqw.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(793-795)AAG>ATG		LON peptidase N-terminal domain and ring finger							18.0	13.0	14.0					X																	118109537		2167	4235	6402	SO:0001583	missense	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118109537A>T	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.794A>T	X.37:g.118109537A>T	ENSP00000360690:p.Lys265Met					LONRF3_uc004eqx.2_Missense_Mutation_p.K265M|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_5'Flank	p.K265M	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN			1	825	+			265			TPR 2.		Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	c.794A>T	CCDS35374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.51|17.51	3.407940|3.407940	0.62399|0.62399	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628|ENST00000439603	T;T;T|.	0.59906|.	0.23;0.23;0.23|.	4.4|4.4	4.4|4.4	0.53042|0.53042	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55146|0.55146	0.1902|0.1902	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	P;P|.	0.51933|.	0.915;0.949|.	P;P|.	0.52031|.	0.491;0.688|.	T|T	0.52756|0.52756	-0.8533|-0.8533	10|5	0.56958|.	D|.	0.05|.	-16.8129|-16.8129	7.2115|7.2115	0.25937|0.25937	0.8987:0.0:0.1013:0.0|0.8987:0.0:0.1013:0.0	.|.	265;265|.	Q496Y0-2;Q496Y0|.	.;LONF3_HUMAN|.	M|H	265|71	ENSP00000360691:K265M;ENSP00000307732:K265M;ENSP00000360690:K265M|.	ENSP00000307732:K265M|.	K|Q	+|+	2|3	0|2	LONRF3|LONRF3	117993565|117993565	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	5.599000|5.599000	0.67592|0.67592	1.744000|1.744000	0.51775|0.51775	0.486000|0.486000	0.48141|0.48141	AAG|CAA		PASS	0.667	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		7	4	7	4	---	---	---	---
KIAA1210	57481	broad.mit.edu	37	X	118243104	118243104	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:118243104C>T	ENST00000402510.2	-	5	711	c.712G>A	c.(712-714)Gag>Aag	p.E238K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	238								p.E98K(1)|p.E238K(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTTTCAGGCTCAGGACCCAAC	0.488																																						uc004era.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(712-714)GAG>AAG		hypothetical protein LOC57481							85.0	74.0	78.0					X																	118243104		1943	4136	6079	SO:0001583	missense	57481							g.chrX:118243104C>T	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.712G>A	X.37:g.118243104C>T	ENSP00000384670:p.Glu238Lys						p.E238K	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			5	712	-			238					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.712G>A	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956999	0.34565	.	.	ENSG00000250423;ENSG00000241087	ENST00000402510;ENST00000420240	T	0.12774	2.65	5.49	3.71	0.42584	.	.	.	.	.	T	0.10121	0.0248	N	0.14661	0.345	0.09310	N	1	P	0.39157	0.662	B	0.43301	0.415	T	0.22417	-1.0217	9	0.41790	T	0.15	.	7.2652	0.26226	0.0:0.7404:0.1655:0.0941	.	238	Q9ULL0	K1210_HUMAN	K	238;74	ENSP00000384670:E238K	ENSP00000396164:E74K	E	-	1	0	RP13-347D8.5;RP13-347D8.6	118127132	0.039000	0.19947	0.021000	0.16686	0.025000	0.11179	0.732000	0.26072	0.598000	0.29829	0.600000	0.82982	GAG		PASS	0.488	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		5	45	5	45	---	---	---	---
SLC25A5	292	broad.mit.edu	37	X	118604025	118604025	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:118604025G>C	ENST00000317881.8	+	2	629	c.513G>C	c.(511-513)aaG>aaC	p.K171N	SLC25A5-AS1_ENST00000446986.1_RNA|SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	171					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)	p.K171N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	ATGGGATTAAGGGCCTGTACC	0.502																																						uc004erh.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(511-513)AAG>AAC		adenine nucleotide translocator 2	Clodronate(DB00720)						134.0	142.0	139.0					X																	118604025		2203	4297	6500	SO:0001583	missense	292				chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding	g.chrX:118604025G>C	BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"""Solute carriers"""	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.513G>C	X.37:g.118604025G>C	ENSP00000360671:p.Lys171Asn					LOC100303728_uc004ere.1_5'Flank|LOC100303728_uc004erg.1_5'Flank	p.K171N	NM_001152	NP_001143	P05141	ADT2_HUMAN			2	629	+			171			Solcar 2.		B2RCV1|O43350	Missense_Mutation	SNP	ENST00000317881.8	37	c.513G>C	CCDS14578.1	.	.	.	.	.	.	.	.	.	.	g	10.11	1.260843	0.23051	.	.	ENSG00000005022	ENST00000317881	T	0.79247	-1.25	4.34	1.57	0.23409	Mitochondrial carrier domain (2);	0.312147	0.39020	N	0.001496	T	0.74253	0.3692	M	0.78344	2.41	0.41381	D	0.987556	B	0.25609	0.13	B	0.28916	0.096	T	0.64457	-0.6403	10	0.27785	T	0.31	.	8.71	0.34378	0.2673:0.0:0.7327:0.0	.	171	P05141	ADT2_HUMAN	N	171	ENSP00000360671:K171N	ENSP00000360671:K171N	K	+	3	2	SLC25A5	118488053	0.998000	0.40836	0.808000	0.32385	0.990000	0.78478	2.634000	0.46528	0.070000	0.16634	0.525000	0.51046	AAG		PASS	0.502	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058952.2	NM_001152		276	222	276	222	---	---	---	---
UPF3B	65109	broad.mit.edu	37	X	118985785	118985785	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:118985785G>A	ENST00000276201.2	-	2	277	c.208C>T	c.(208-210)Cat>Tat	p.H70Y	UPF3B_ENST00000345865.2_Missense_Mutation_p.H70Y	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	70	Necessary for interaction with UPF2.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.H70Y(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						GGTTGAAGATGTTCCTGAAGC	0.328																																						uc004erz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(208-210)CAT>TAT		UPF3 regulator of nonsense transcripts homolog B							53.0	54.0	54.0					X																	118985785		2203	4300	6503	SO:0001583	missense	65109				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:118985785G>A	AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.208C>T	X.37:g.118985785G>A	ENSP00000276201:p.His70Tyr					UPF3B_uc004esa.1_Missense_Mutation_p.H70Y	p.H70Y	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN			2	285	-			70			Necessary for interaction with UPF2.		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	ENST00000276201.2	37	c.208C>T	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331711	0.60853	.	.	ENSG00000125351	ENST00000276201;ENST00000345865;ENST00000439808	T;T	0.62941	-0.01;-0.01	4.85	4.85	0.62838	Regulator of nonsense-mediated decay, UPF3 (1);Nucleotide-binding, alpha-beta plait (1);	0.049211	0.85682	D	0.000000	T	0.70413	0.3221	L	0.43757	1.38	0.51482	D	0.999923	D;D	0.63880	0.978;0.993	P;D	0.63381	0.736;0.914	T	0.74121	-0.3767	10	0.87932	D	0	.	14.48	0.67576	0.0:0.0:1.0:0.0	.	70;70	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	Y	70	ENSP00000276201:H70Y;ENSP00000245418:H70Y	ENSP00000276201:H70Y	H	-	1	0	UPF3B	118869813	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.132000	0.94455	1.995000	0.58328	0.600000	0.82982	CAT		PASS	0.328	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			14	49	14	49	---	---	---	---
RNF113A	7737	broad.mit.edu	37	X	119004853	119004853	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:119004853C>T	ENST00000371442.2	-	1	938	c.724G>A	c.(724-726)Ggt>Agt	p.G242S	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	242							zinc ion binding (GO:0008270)	p.G242S(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						TCATAGACACCATAGCGACCC	0.488																																						uc004esb.2																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(724-726)GGT>AGT		ring finger protein 113A							124.0	114.0	117.0					X																	119004853		2203	4300	6503	SO:0001583	missense	7737						nucleic acid binding|zinc ion binding	g.chrX:119004853C>T	X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"""RING-type (C3HC4) zinc fingers"""	12974	protein-coding gene	gene with protein product			"""zinc finger protein 183 (RING finger, C3HC4 type)"""	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.724G>A	X.37:g.119004853C>T	ENSP00000360497:p.Gly242Ser					NDUFA1_uc004esc.3_5'Flank	p.G242S	NM_006978	NP_008909	O15541	R113A_HUMAN			1	939	-			242					B2RBR7	Missense_Mutation	SNP	ENST00000371442.2	37	c.724G>A	CCDS14589.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990987	0.74703	.	.	ENSG00000125352	ENST00000371442	T	0.33654	1.4	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.55986	0.1955	M	0.64404	1.975	0.80722	D	1	D	0.76494	0.999	D	0.64776	0.929	T	0.54009	-0.8357	10	0.45353	T	0.12	-26.6324	16.2625	0.82553	0.0:1.0:0.0:0.0	.	242	O15541	R113A_HUMAN	S	242	ENSP00000360497:G242S	ENSP00000360497:G242S	G	-	1	0	RNF113A	118888881	1.000000	0.71417	0.978000	0.43139	0.971000	0.66376	7.493000	0.81493	2.445000	0.82738	0.600000	0.82982	GGT		PASS	0.488	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058071.1	NM_006978		13	258	13	258	---	---	---	---
ATP1B4	23439	broad.mit.edu	37	X	119509334	119509334	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:119509334C>A	ENST00000218008.3	+	5	727	c.670C>A	c.(670-672)Cgc>Agc	p.R224S	ATP1B4_ENST00000361319.3_Missense_Mutation_p.R220S|ATP1B4_ENST00000539306.1_Missense_Mutation_p.R181S	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	224					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)	p.R220S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CCAATTTAAGCGCTCCTTCCT	0.483																																						uc004esr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(670-672)CGC>AGC		ATPase, (Na+)/K+ transporting, beta 4							162.0	142.0	149.0					X																	119509334		2203	4300	6503	SO:0001583	missense	23439				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119509334C>A	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.670C>A	X.37:g.119509334C>A	ENSP00000218008:p.Arg224Ser					ATP1B4_uc004esq.2_Missense_Mutation_p.R220S|ATP1B4_uc011mtx.1_Missense_Mutation_p.R189S|ATP1B4_uc011mty.1_Missense_Mutation_p.R181S	p.R224S	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN			5	754	+			224			Perinuclear space (Potential).		Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	c.670C>A	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837916	0.50951	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.32023	1.47;1.47;1.47	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.58004	0.2092	M	0.85373	2.75	0.80722	D	1	D;P;D;D	0.89917	1.0;0.951;1.0;1.0	D;P;D;D	0.91635	0.999;0.862;0.999;0.999	T	0.59209	-0.7497	10	0.14252	T	0.57	-12.0358	16.8493	0.85989	0.0:1.0:0.0:0.0	.	181;189;224;220	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	S	224;220;181	ENSP00000218008:R224S;ENSP00000355346:R220S;ENSP00000443334:R181S	ENSP00000218008:R224S	R	+	1	0	ATP1B4	119393362	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	4.725000	0.61979	2.183000	0.69458	0.600000	0.82982	CGC		PASS	0.483	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		174	107	174	107	---	---	---	---
GLUD2	2747	broad.mit.edu	37	X	120183012	120183012	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:120183012G>A	ENST00000328078.1	+	1	1551	c.1474G>A	c.(1474-1476)Gag>Aag	p.E492K		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	492					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)	p.E492K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						ACCCACGGCAGAGTTCCAAGA	0.453																																						uc004eto.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1474-1476)GAG>AAG		glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						157.0	126.0	137.0					X																	120183012		2203	4300	6503	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120183012G>A	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1474G>A	X.37:g.120183012G>A	ENSP00000327589:p.Glu492Lys						p.E492K	NM_012084	NP_036216	P49448	DHE4_HUMAN			1	1551	+			492					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.1474G>A	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	G	4.977	0.181392	0.09495	.	.	ENSG00000182890	ENST00000328078	D	0.96300	-3.97	2.16	1.25	0.21368	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.101965	0.64402	D	0.000003	D	0.91888	0.7432	L	0.45581	1.43	0.46701	D	0.999164	B	0.20052	0.041	B	0.09377	0.004	D	0.84184	0.0441	10	0.35671	T	0.21	.	6.2929	0.21069	0.174:0.0:0.826:0.0	.	492	P49448	DHE4_HUMAN	K	492	ENSP00000327589:E492K	ENSP00000327589:E492K	E	+	1	0	GLUD2	120010693	1.000000	0.71417	0.060000	0.19600	0.094000	0.18550	6.189000	0.72051	0.197000	0.20387	0.413000	0.27773	GAG		PASS	0.453	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		11	215	11	215	---	---	---	---
THOC2	57187	broad.mit.edu	37	X	122840735	122840735	+	Silent	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:122840735C>T	ENST00000245838.8	-	3	226	c.195G>A	c.(193-195)caG>caA	p.Q65Q	THOC2_ENST00000355725.4_Silent_p.Q65Q	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	65					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.Q65Q(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CATTAGATGCCTGTTCATGCT	0.299																																						uc004etu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(193-195)CAG>CAA		THO complex 2							70.0	55.0	59.0					X																	122840735		1802	4035	5837	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:122840735C>T	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.195G>A	X.37:g.122840735C>T						THOC2_uc011muh.1_5'UTR|THOC2_uc011mui.1_5'UTR	p.Q65Q	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			3	227	-			65					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	ENST00000245838.8	37	c.195G>A	CCDS43988.1																																																																																				PASS	0.299	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			24	31	24	31	---	---	---	---
STAG2	10735	broad.mit.edu	37	X	123224561	123224561	+	Silent	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:123224561C>T	ENST00000371160.1	+	31	3704	c.3414C>T	c.(3412-3414)ttC>ttT	p.F1138F	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.F1138F|STAG2_ENST00000371157.3_Silent_p.F1138F|STAG2_ENST00000371145.3_Silent_p.F1138F|STAG2_ENST00000371144.3_Silent_p.F1138F|STAG2_ENST00000354548.5_Silent_p.F1069F	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1138					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.F1138F(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AGGATAGCTTCATGAGTGTTT	0.383																																						uc004etz.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(1)	5						c.(3412-3414)TTC>TTT		stromal antigen 2 isoform b							206.0	154.0	172.0					X																	123224561		2203	4300	6503	SO:0001819	synonymous_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123224561C>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.3414C>T	X.37:g.123224561C>T						STAG2_uc004eua.2_Silent_p.F1138F|STAG2_uc004eub.2_Silent_p.F1138F|STAG2_uc004euc.2_Silent_p.F1138F|STAG2_uc004eud.2_Silent_p.F1138F|STAG2_uc004eue.2_Silent_p.F1138F	p.F1138F	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			30	3753	+			1138					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Silent	SNP	ENST00000371160.1	37	c.3414C>T	CCDS14607.1																																																																																				PASS	0.383	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		7	201	7	201	---	---	---	---
IGSF1	3547	broad.mit.edu	37	X	130416701	130416701	+	Silent	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:130416701G>T	ENST00000361420.3	-	7	1042	c.963C>A	c.(961-963)ccC>ccA	p.P321P	IGSF1_ENST00000370903.3_Silent_p.P321P|IGSF1_ENST00000370910.1_Silent_p.P312P|IGSF1_ENST00000370904.1_Silent_p.P312P			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	321	Ig-like C2-type 4.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.P321P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCCAGGTCTTGGGGAAAGTGT	0.507																																						uc004ewd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)	5						c.(961-963)CCC>CCA		immunoglobulin superfamily, member 1 isoform 1							65.0	61.0	62.0					X																	130416701		2203	4300	6503	SO:0001819	synonymous_variant	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130416701G>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.963C>A	X.37:g.130416701G>T						IGSF1_uc004ewe.3_Silent_p.P310P|IGSF1_uc004ewf.2_Silent_p.P301P	p.P321P	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			7	1201	-			321			Ig-like C2-type 4.|Extracellular (Potential).		B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	ENST00000361420.3	37	c.963C>A	CCDS14629.1																																																																																				PASS	0.507	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			67	75	67	75	---	---	---	---
GPC3	2719	broad.mit.edu	37	X	132834024	132834024	+	Silent	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:132834024G>T	ENST00000370818.3	-	4	1510	c.1065C>A	c.(1063-1065)cgC>cgA	p.R355R	GPC3_ENST00000543339.1_Silent_p.R301R|GPC3_ENST00000394299.2_Silent_p.R378R	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	355					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)	p.R355R(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					ATCTATATTGGCGTTGTTGAG	0.323			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													uc004exe.1			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	T|D|Mis|N|F|S	glypican 3			O		Wilms tumour			1	Substitution - coding silent(1)		lung(1)	lung(2)|prostate(1)|breast(1)|skin(1)	5						c.(1063-1065)CGC>CGA		glypican 3 isoform 2 precursor							88.0	84.0	85.0					X																	132834024		2203	4298	6501	SO:0001819	synonymous_variant	2719	Simpson-Golabi-Behmel_syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:132834024G>T	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.1065C>A	X.37:g.132834024G>T						GPC3_uc004exd.1_Silent_p.R227R|GPC3_uc010nrn.1_Silent_p.R378R|GPC3_uc011mvh.1_Silent_p.R339R|GPC3_uc010nro.1_Silent_p.R301R|GPC3_uc010nrp.1_Silent_p.R227R	p.R355R	NM_004484	NP_004475	P51654	GPC3_HUMAN			4	1255	-	Acute lymphoblastic leukemia(192;0.000127)		355					C9JLE3|G3V1R0|Q2L880|Q2L882	Silent	SNP	ENST00000370818.3	37	c.1065C>A	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	G	8.540	0.872964	0.17322	.	.	ENSG00000147257	ENST00000406757	.	.	.	5.3	2.37	0.29283	.	.	.	.	.	T	0.46249	0.1383	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27806	-1.0063	4	.	.	.	.	3.6022	0.08028	0.1116:0.4656:0.2932:0.1296	.	.	.	.	D	85	.	.	A	-	2	0	GPC3	132661690	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	0.527000	0.22987	0.404000	0.25506	0.436000	0.28706	GCC		PASS	0.323	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		132	216	132	216	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135428578	135428578	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:135428578G>C	ENST00000394143.1	+	6	3004	c.2713G>C	c.(2713-2715)Gag>Cag	p.E905Q	GPR112_ENST00000412101.1_Missense_Mutation_p.E700Q|GPR112_ENST00000394141.1_Missense_Mutation_p.E700Q|GPR112_ENST00000287534.4_Missense_Mutation_p.E842Q|GPR112_ENST00000370652.1_Missense_Mutation_p.E905Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	905					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E905Q(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGCAACAACTGAGGTGAGAGA	0.378																																						uc004ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(2713-2715)GAG>CAG		G-protein coupled receptor 112							101.0	98.0	99.0					X																	135428578		2203	4298	6501	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135428578G>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2713G>C	X.37:g.135428578G>C	ENSP00000377699:p.Glu905Gln					GPR112_uc010nsb.1_Missense_Mutation_p.E700Q|GPR112_uc010nsc.1_Missense_Mutation_p.E672Q	p.E905Q	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	3004	+	Acute lymphoblastic leukemia(192;0.000127)		905			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.2713G>C	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	3.919	-0.018465	0.07681	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.41758	1.03;1.03;0.99;1.1;0.99	2.44	1.57	0.23409	.	.	.	.	.	T	0.40743	0.1129	N	0.19112	0.55	0.09310	N	1	D;D;D	0.67145	0.996;0.987;0.98	D;P;P	0.64237	0.923;0.841;0.611	T	0.15122	-1.0448	9	0.56958	D	0.05	.	4.8354	0.13462	0.1841:0.0:0.8159:0.0	.	842;700;905	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	Q	905;905;700;842;700	ENSP00000377699:E905Q;ENSP00000359686:E905Q;ENSP00000416526:E700Q;ENSP00000287534:E842Q;ENSP00000377697:E700Q	ENSP00000287534:E842Q	E	+	1	0	GPR112	135256244	0.058000	0.20735	0.039000	0.18376	0.385000	0.30292	0.517000	0.22832	0.476000	0.27440	0.284000	0.19432	GAG		PASS	0.378	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			22	467	22	467	---	---	---	---
RBMX	27316	broad.mit.edu	37	X	135956578	135956578	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:135956578G>T	ENST00000320676.7	-	9	1053	c.899C>A	c.(898-900)cCc>cAc	p.P300H	RBMX_ENST00000496459.2_5'Flank|RBMX_ENST00000565438.1_Missense_Mutation_p.P172H|RBMX_ENST00000570135.1_Missense_Mutation_p.P165H|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000562646.1_3'UTR	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	300					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P300H(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					AGATGGCGGGGGCCCTCGTGT	0.463																																						uc004fae.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(898-900)CCC>CAC		RNA binding motif protein, X-linked isoform 1							88.0	83.0	85.0					X																	135956578		2203	4300	6503	SO:0001583	missense	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135956578G>T		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.899C>A	X.37:g.135956578G>T	ENSP00000359645:p.Pro300His					RBMX_uc004fac.1_5'Flank|RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_3'UTR|RBMX_uc011mwg.1_Missense_Mutation_p.P261H|RBMX_uc004faf.1_Missense_Mutation_p.P161H|RBMX_uc010nsf.1_Missense_Mutation_p.P261H|RBMX_uc004fag.1_Missense_Mutation_p.P172H	p.P300H	NM_002139	NP_002130	P38159	HNRPG_HUMAN			9	1109	-	Acute lymphoblastic leukemia(192;0.000127)		300					B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	c.899C>A	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	17.75	3.467396	0.63625	.	.	ENSG00000147274	ENST00000320676;ENST00000449161	T	0.78481	-1.18	5.4	5.4	0.78164	.	0.000000	0.85682	U	0.000000	T	0.76608	0.4011	L	0.58101	1.795	0.80722	D	1	B	0.22414	0.069	B	0.19148	0.024	T	0.74556	-0.3626	10	0.72032	D	0.01	.	18.4308	0.90624	0.0:0.0:1.0:0.0	.	300	P38159	HNRPG_HUMAN	H	300;287	ENSP00000359645:P300H	ENSP00000359645:P300H	P	-	2	0	RBMX	135784244	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.764000	0.85297	2.380000	0.81148	0.600000	0.82982	CCC		PASS	0.463	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		96	187	96	187	---	---	---	---
RBMX	27316	broad.mit.edu	37	X	135961272	135961272	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:135961272C>T	ENST00000320676.7	-	3	274	c.120G>A	c.(118-120)atG>atA	p.M40I	RBMX_ENST00000565438.1_Intron|RBMX_ENST00000570135.1_5'UTR|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000431446.3_Missense_Mutation_p.M40I|RBMX_ENST00000562646.1_Missense_Mutation_p.M40I	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	40	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.M40I(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CACGGTCTTTCATCAAGAGTA	0.378																																						uc004fae.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(118-120)ATG>ATA		RNA binding motif protein, X-linked isoform 1							124.0	113.0	116.0					X																	135961272		2203	4300	6503	SO:0001583	missense	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135961272C>T		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.120G>A	X.37:g.135961272C>T	ENSP00000359645:p.Met40Ile					RBMX_uc011mwf.1_Missense_Mutation_p.M40I|RBMX_uc004fad.1_Missense_Mutation_p.M40I|RBMX_uc011mwg.1_Missense_Mutation_p.M1I|RBMX_uc004faf.1_5'UTR|RBMX_uc010nsf.1_Missense_Mutation_p.M1I|RBMX_uc004fag.1_Intron	p.M40I	NM_002139	NP_002130	P38159	HNRPG_HUMAN			3	330	-	Acute lymphoblastic leukemia(192;0.000127)		40			RRM.		B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	c.120G>A	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	15.25	2.778306	0.49786	.	.	ENSG00000147274	ENST00000431446;ENST00000320676;ENST00000449161	D;D	0.88975	-2.45;-2.45	4.41	4.41	0.53225	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	T	0.78407	0.4278	N	0.16066	0.365	0.80722	D	1	B;B;B	0.30634	0.049;0.009;0.288	B;B;B	0.25759	0.038;0.03;0.063	T	0.75391	-0.3334	10	0.12766	T	0.61	.	16.4297	0.83837	0.0:1.0:0.0:0.0	.	40;40;40	B4E3U4;P38159;Q8N8Y7	.;HNRPG_HUMAN;.	I	40	ENSP00000411989:M40I;ENSP00000359645:M40I	ENSP00000359645:M40I	M	-	3	0	RBMX	135788938	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.762000	0.85270	1.783000	0.52377	0.502000	0.49764	ATG		PASS	0.378	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		71	354	71	354	---	---	---	---
MCF2	4168	broad.mit.edu	37	X	138670585	138670585	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:138670585C>G	ENST00000370576.4	-	21	2592	c.2383G>C	c.(2383-2385)Gat>Cat	p.D795H	MCF2_ENST00000519895.1_Missense_Mutation_p.D871H|MCF2_ENST00000370578.4_Missense_Mutation_p.D940H|MCF2_ENST00000536274.1_Missense_Mutation_p.D756H|MCF2_ENST00000338585.6_Missense_Mutation_p.D811H|MCF2_ENST00000414978.1_Missense_Mutation_p.D855H|MCF2_ENST00000520602.1_Missense_Mutation_p.D855H|MCF2_ENST00000370573.4_Missense_Mutation_p.D795H	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	795	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D795H(2)|p.D871H(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					ATCTTCACATCTACATTAGAA	0.338																																						uc004fau.2																			3	Substitution - Missense(3)		lung(3)	lung(1)|pleura(1)	2						c.(2383-2385)GAT>CAT		MCF.2 cell line derived transforming sequence							56.0	53.0	54.0					X																	138670585		2202	4295	6497	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138670585C>G		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2383G>C	X.37:g.138670585C>G	ENSP00000359608:p.Asp795His					MCF2_uc004fav.2_Missense_Mutation_p.D811H|MCF2_uc011mwl.1_Missense_Mutation_p.D772H|MCF2_uc010nsh.1_Missense_Mutation_p.D795H|MCF2_uc011mwm.1_Missense_Mutation_p.D756H|MCF2_uc011mwn.1_Missense_Mutation_p.D940H|MCF2_uc004faw.2_Missense_Mutation_p.D855H|MCF2_uc011mwo.1_Missense_Mutation_p.D871H	p.D795H	NM_005369	NP_005360	P10911	MCF2_HUMAN			21	2677	-	Acute lymphoblastic leukemia(192;0.000127)		795			PH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.2383G>C	CCDS14667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.51|16.51	3.143036|3.143036	0.57044|0.57044	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585|ENST00000437564	T;T;T;T;T;T;T;T;T|.	0.11821|.	2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.355790|.	0.35151|.	N|.	0.003420|.	T|T	0.79112|0.79112	0.4391|0.4391	M|M	0.85373|0.85373	2.75|2.75	0.46376|0.46376	D|D	0.999011|0.999011	D;D;D;D;D;D;D;D|.	0.89917|.	0.996;1.0;0.993;0.996;0.993;0.999;1.0;0.996|.	P;D;P;P;D;D;D;P|.	0.74674|.	0.897;0.945;0.881;0.897;0.919;0.928;0.984;0.897|.	T|T	0.81284|0.81284	-0.1002|-0.1002	10|5	0.87932|.	D|.	0|.	.|.	15.463|15.463	0.75373|0.75373	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	871;940;756;795;795;940;811;795|.	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911|.	.;.;.;.;.;.;.;MCF2_HUMAN|.	H|T	855;795;756;940;855;398;871;795;811|298	ENSP00000427745:D855H;ENSP00000359608:D795H;ENSP00000438155:D756H;ENSP00000359610:D940H;ENSP00000397055:D855H;ENSP00000405848:D398H;ENSP00000430276:D871H;ENSP00000359605:D795H;ENSP00000342204:D811H|.	ENSP00000342204:D811H|.	D|R	-|-	1|2	0|0	MCF2|MCF2	138498251|138498251	1.000000|1.000000	0.71417|0.71417	0.925000|0.925000	0.36789|0.36789	0.339000|0.339000	0.28857|0.28857	4.730000|4.730000	0.62015|0.62015	2.494000|2.494000	0.84150|0.84150	0.600000|0.600000	0.82982|0.82982	GAT|AGA		PASS	0.338	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		19	87	19	87	---	---	---	---
ATP11C	286410	broad.mit.edu	37	X	138869371	138869371	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:138869371C>A	ENST00000327569.3	-	15	1660	c.1562G>T	c.(1561-1563)gGa>gTa	p.G521V	ATP11C_ENST00000359686.2_Missense_Mutation_p.G521V|ATP11C_ENST00000370543.1_Missense_Mutation_p.G521V|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Missense_Mutation_p.G521V|ATP11C_ENST00000370557.1_Missense_Mutation_p.G518V	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	521					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G521V(2)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TCTCATATATCCATTTCGATT	0.284																																						uc004faz.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(3)	8						c.(1561-1563)GGA>GTA		ATPase, class VI, type 11C isoform a							112.0	90.0	97.0					X																	138869371		2201	4299	6500	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138869371C>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1562G>T	X.37:g.138869371C>A	ENSP00000332756:p.Gly521Val					ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.G521V	p.G521V	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			15	1661	-	Acute lymphoblastic leukemia(192;0.000127)		521			Cytoplasmic (Potential).		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.1562G>T	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675253	0.29783	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	5.76	3.97	0.46021	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.373017	0.30850	N	0.008743	T	0.60392	0.2265	M	0.62209	1.925	0.45806	D	0.998683	P;P	0.36412	0.552;0.464	B;B	0.39027	0.189;0.288	T	0.61426	-0.7065	10	0.41790	T	0.15	.	5.6977	0.17865	0.0:0.677:0.0:0.323	.	521;521	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	V	518;521;521;521;521	ENSP00000359588:G518V;ENSP00000355165:G521V;ENSP00000332756:G521V;ENSP00000359574:G521V;ENSP00000352715:G521V	ENSP00000332756:G521V	G	-	2	0	ATP11C	138697037	0.981000	0.34729	0.932000	0.37286	0.860000	0.49131	1.825000	0.39081	2.422000	0.82143	0.594000	0.82650	GGA		PASS	0.284	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		4	115	4	115	---	---	---	---
CDR1	1038	broad.mit.edu	37	X	139866206	139866206	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:139866206G>A	ENST00000370532.2	-	1	517	c.326C>T	c.(325-327)cCg>cTg	p.P109L		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	109	23 X 6 AA approximate repeats.							p.P109L(1)|p.P109Q(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CAAAAAATCCGGGTCTTCCAG	0.448																																						uc004fbg.1																			2	Substitution - Missense(2)		lung(2)		0						c.(325-327)CCG>CTG		cerebellar degeneration-related protein 1,							71.0	76.0	74.0					X																	139866206		2203	4300	6503	SO:0001583	missense	1038							g.chrX:139866206G>A		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.326C>T	X.37:g.139866206G>A	ENSP00000359563:p.Pro109Leu					uc004fbf.1_RNA	p.P109L	NM_004065	NP_004056	P51861	CDR1_HUMAN			1	518	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	109			18.|23 X 6 AA approximate repeats.		Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	37	c.326C>T	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	A	0.200	-1.045247	0.01997	.	.	ENSG00000184258	ENST00000370532	T	0.28069	1.63	4.2	-8.39	0.00969	.	.	.	.	.	T	0.07683	0.0193	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28839	-1.0031	8	.	.	.	.	4.3927	0.11348	0.2723:0.0:0.2604:0.4673	.	109	P51861	CDR1_HUMAN	L	109	ENSP00000359563:P109L	.	P	-	2	0	CDR1	139693872	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.021000	0.00642	-1.281000	0.02399	-2.531000	0.00182	CCG		PASS	0.448	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		108	236	108	236	---	---	---	---
FMR1NB	158521	broad.mit.edu	37	X	147106426	147106426	+	Missense_Mutation	SNP	T	T	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:147106426T>C	ENST00000370467.3	+	5	748	c.674T>C	c.(673-675)gTa>gCa	p.V225A		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	225						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)		p.V225A(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					AACAGAGTTGTAACGGGTTTG	0.413																																						uc004fcm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(673-675)GTA>GCA		fragile X mental retardation 1 neighbor							139.0	122.0	128.0					X																	147106426		2203	4300	6503	SO:0001583	missense	158521					integral to membrane		g.chrX:147106426T>C		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.674T>C	X.37:g.147106426T>C	ENSP00000359498:p.Val225Ala						p.V225A	NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN			5	748	+	Acute lymphoblastic leukemia(192;6.56e-05)		225			Cytoplasmic (Potential).		D3DWT3	Missense_Mutation	SNP	ENST00000370467.3	37	c.674T>C	CCDS14683.1	.	.	.	.	.	.	.	.	.	.	T	12.80	2.047884	0.36085	.	.	ENSG00000176988	ENST00000370467	T	0.29397	1.57	3.79	-1.83	0.07833	.	0.567222	0.13250	N	0.402147	T	0.11965	0.0291	N	0.08118	0	0.09310	N	1	B	0.28998	0.23	B	0.30782	0.12	T	0.18777	-1.0326	10	0.66056	D	0.02	-0.8111	0.5519	0.00664	0.3422:0.1129:0.1802:0.3647	.	225	Q8N0W7	FMR1N_HUMAN	A	225	ENSP00000359498:V225A	ENSP00000359498:V225A	V	+	2	0	FMR1NB	146914118	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.530000	0.23036	-0.474000	0.06862	-1.580000	0.00857	GTA		PASS	0.413	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		131	102	131	102	---	---	---	---
MAGEA11	4110	broad.mit.edu	37	X	148796226	148796226	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:148796226C>G	ENST00000355220.5	+	3	284	c.182C>G	c.(181-183)cCa>cGa	p.P61R	MAGEA11_ENST00000333104.4_Missense_Mutation_p.P32R	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	61						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P61R(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CAGGATCTGCCAAGAGTCCAG	0.547																																						uc004fdq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(181-183)CCA>CGA		melanoma antigen family A, 11 isoform a							43.0	40.0	41.0					X																	148796226		2202	4300	6502	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148796226C>G		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.182C>G	X.37:g.148796226C>G	ENSP00000347358:p.Pro61Arg					HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.P32R	p.P61R	NM_005366	NP_005357	P43364	MAGAB_HUMAN			3	284	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		61					Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.182C>G	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	9.297	1.052024	0.19827	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.03772	3.81;4.23;4.16	1.09	-1.32	0.09201	.	.	.	.	.	T	0.04679	0.0127	N	0.14661	0.345	0.09310	N	1	D;D	0.65815	0.995;0.992	P;P	0.55011	0.766;0.588	T	0.30937	-0.9961	9	0.54805	T	0.06	.	1.6552	0.02780	0.3307:0.4033:0.0:0.2659	.	32;61	G5E962;P43364	.;MAGAB_HUMAN	R	32;32;61	ENSP00000391496:P32R;ENSP00000328177:P32R;ENSP00000347358:P61R	ENSP00000328177:P32R	P	+	2	0	MAGEA11	148578179	0.000000	0.05858	0.001000	0.08648	0.094000	0.18550	0.184000	0.16939	-0.599000	0.05798	0.284000	0.19432	CCA		PASS	0.547	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		14	53	14	53	---	---	---	---
CD99L2	83692	broad.mit.edu	37	X	149999760	149999760	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:149999760C>T	ENST00000370377.3	-	2	191	c.74G>A	c.(73-75)gGg>gAg	p.G25E	CD99L2_ENST00000320893.6_Missense_Mutation_p.G25E|CD99L2_ENST00000437787.2_Missense_Mutation_p.G25E|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_Missense_Mutation_p.G25E|CD99L2_ENST00000466436.1_Missense_Mutation_p.G25E	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	25					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G25E(2)		endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATCAAAGTCCCCAGATCCtaa	0.294																																						uc004fel.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(1)	3						c.(73-75)GGG>GAG		CD99 antigen-like 2 isoform E3'-E4'-E3-E4							72.0	69.0	70.0					X																	149999760		2203	4300	6503	SO:0001583	missense	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149999760C>T	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.74G>A	X.37:g.149999760C>T	ENSP00000359403:p.Gly25Glu					CD99L2_uc004fem.2_Missense_Mutation_p.G25E|CD99L2_uc004fen.2_Missense_Mutation_p.G25E|CD99L2_uc004feo.2_RNA|CD99L2_uc011myb.1_Missense_Mutation_p.G25E	p.G25E	NM_031462	NP_113650	Q8TCZ2	C99L2_HUMAN			2	192	-	Acute lymphoblastic leukemia(192;6.56e-05)		25					A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Missense_Mutation	SNP	ENST00000370377.3	37	c.74G>A	CCDS35427.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022622	0.35701	.	.	ENSG00000102181	ENST00000370377;ENST00000438086;ENST00000355149;ENST00000437787;ENST00000466436;ENST00000320893	T	0.25579	1.79	4.28	3.4	0.38934	.	1.070160	0.07546	N	0.914720	T	0.49047	0.1534	M	0.66939	2.045	0.09310	N	0.999992	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.80764	0.994;0.977;0.977;0.949	T	0.19418	-1.0306	9	.	.	.	-8.8843	9.735	0.40382	0.0:0.7928:0.2072:0.0	.	25;25;25;25	E9PD27;Q8TCZ2-3;Q8TCZ2-2;Q8TCZ2	.;.;.;C99L2_HUMAN	E	25	ENSP00000394858:G25E	.	G	-	2	0	CD99L2	149750418	0.257000	0.24022	0.066000	0.19879	0.478000	0.33099	1.823000	0.39062	0.891000	0.36235	0.600000	0.82982	GGG		PASS	0.294	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		50	161	50	161	---	---	---	---
PNMA5	114824	broad.mit.edu	37	X	152158903	152158903	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:152158903C>T	ENST00000439251.1	-	2	1678	c.1240G>A	c.(1240-1242)Gct>Act	p.A414T	PNMA5_ENST00000535214.1_Missense_Mutation_p.A414T|PNMA5_ENST00000452693.1_Missense_Mutation_p.A414T|PNMA5_ENST00000361887.5_Missense_Mutation_p.A414T	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	414					positive regulation of apoptotic process (GO:0043065)			p.A414T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTTTTCAGCCTTGGGATAC	0.612																																						uc010ntw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1240-1242)GCT>ACT		paraneoplastic antigen like 5							123.0	102.0	109.0					X																	152158903		2203	4300	6503	SO:0001583	missense	114824				apoptosis			g.chrX:152158903C>T	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.1240G>A	X.37:g.152158903C>T	ENSP00000388850:p.Ala414Thr					PNMA5_uc004fha.3_Missense_Mutation_p.A414T|PNMA5_uc010ntx.2_Missense_Mutation_p.A414T|PNMA5_uc004fgy.3_Missense_Mutation_p.A414T	p.A414T	NM_001103151	NP_001096621	Q96PV4	PNMA5_HUMAN			3	1579	-	Acute lymphoblastic leukemia(192;6.56e-05)		414					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	c.1240G>A	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	c	7.745	0.702131	0.15172	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.08720	3.06;3.06;3.06;3.06	2.21	-2.07	0.07276	.	.	.	.	.	T	0.04272	0.0118	N	0.24115	0.695	0.09310	N	1	B	0.24920	0.114	B	0.17098	0.017	T	0.43491	-0.9388	9	0.23891	T	0.37	-5.8275	3.3998	0.07319	0.0:0.3361:0.2121:0.4518	.	414	Q96PV4	PNMA5_HUMAN	T	414	ENSP00000354834:A414T;ENSP00000445775:A414T;ENSP00000388850:A414T;ENSP00000392342:A414T	ENSP00000354834:A414T	A	-	1	0	PNMA5	151909559	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.115000	0.10741	-0.797000	0.04450	0.287000	0.19450	GCT		PASS	0.612	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		7	257	7	257	---	---	---	---
ZNF275	10838	broad.mit.edu	37	X	152613051	152613051	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:152613051G>A	ENST00000421401.3	+	4	1085	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	ZNF275_ENST00000440091.1_Missense_Mutation_p.R333Q|ZNF275_ENST00000370249.2_Missense_Mutation_p.R250Q|ZNF275_ENST00000370251.3_Missense_Mutation_p.R303Q			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	303					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.R250Q(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGCTCTTCCGAAGGAGCTCG	0.682																																						uc004fhg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(907-909)CGA>CAA		SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275;							16.0	18.0	18.0					X																	152613051		2194	4289	6483	SO:0001583	missense	10838					intracellular	nucleic acid binding|zinc ion binding	g.chrX:152613051G>A	BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"""Zinc fingers, C2H2-type"", ""-"""	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.908G>A	X.37:g.152613051G>A	ENSP00000398977:p.Arg303Gln					ZNF275_uc011mym.1_Missense_Mutation_p.R303Q|ZNF275_uc011myn.1_Missense_Mutation_p.R240Q	p.R303Q			A6NFS0	A6NFS0_HUMAN			4	1085	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		303					A6NE92	Missense_Mutation	SNP	ENST00000421401.3	37	c.908G>A		.	.	.	.	.	.	.	.	.	.	G	14.00	2.403988	0.42613	.	.	ENSG00000063587	ENST00000370251;ENST00000421401;ENST00000440091;ENST00000370249	T;T;T;T	0.53640	0.61;3.66;3.66;3.66	4.49	4.49	0.54785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37857	N	0.001907	T	0.51126	0.1656	L	0.33137	0.985	0.09310	N	0.999997	D;D	0.76494	0.985;0.999	B;P	0.61275	0.44;0.886	T	0.41070	-0.9529	10	0.62326	D	0.03	-31.7267	9.741	0.40418	0.0:0.2057:0.7943:0.0	.	303;303	Q9NSD4;A6NFS0	ZN275_HUMAN;.	Q	303;303;333;250	ENSP00000359271:R303Q;ENSP00000398977:R303Q;ENSP00000411097:R333Q;ENSP00000359269:R250Q	ENSP00000359269:R250Q	R	+	2	0	ZNF275	152266245	0.000000	0.05858	0.927000	0.36925	0.265000	0.26407	-0.343000	0.07791	2.218000	0.71995	0.436000	0.28706	CGA		PASS	0.682	ZNF275-201	KNOWN	basic	protein_coding	protein_coding		NM_001080485		6	15	6	15	---	---	---	---
PLXNB3	5365	broad.mit.edu	37	X	153043732	153043732	+	Missense_Mutation	SNP	A	A	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:153043732A>C	ENST00000361971.5	+	33	5540	c.5426A>C	c.(5425-5427)aAa>aCa	p.K1809T	PLXNB3_ENST00000538776.1_Missense_Mutation_p.K1462T|SRPK3_ENST00000370100.1_5'Flank|SRPK3_ENST00000370108.3_5'Flank|SRPK3_ENST00000370101.3_5'Flank|PLXNB3_ENST00000485980.1_3'UTR|PLXNB3_ENST00000538966.1_Missense_Mutation_p.K1832T|SRPK3_ENST00000393786.3_5'Flank|SRPK3_ENST00000370104.1_5'Flank|SRPK3_ENST00000489426.1_5'UTR	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1809					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.K1809T(1)		central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTGAACAAACTGCTCTAC	0.652																																						uc004fii.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(5425-5427)AAA>ACA		plexin B3 isoform 1							58.0	54.0	56.0					X																	153043732		2201	4300	6501	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153043732A>C	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.5426A>C	X.37:g.153043732A>C	ENSP00000355378:p.Lys1809Thr					PLXNB3_uc010nuk.2_Missense_Mutation_p.K1832T|PLXNB3_uc011mzd.1_Missense_Mutation_p.K1448T|SRPK3_uc004fik.2_5'UTR|SRPK3_uc010nul.2_5'Flank|SRPK3_uc004fin.2_5'Flank|SRPK3_uc004fil.2_5'Flank|SRPK3_uc004fim.2_5'Flank	p.K1809T	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN			33	5600	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1809			Cytoplasmic (Potential).		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.5426A>C	CCDS14729.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.6|26.6	4.753530|4.753530	0.89753|0.89753	.|.	.|.	ENSG00000198753|ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776|ENST00000448847	T;T;T|.	0.18657|.	2.2;2.2;2.2|.	5.16|5.16	5.16|5.16	0.70880|0.70880	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84732|0.84732	0.5537|0.5537	M|M	0.93763|0.93763	3.455|3.455	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.88654|0.88654	0.3184|0.3184	10|5	0.87932|.	D|.	0|.	.|.	13.2021|13.2021	0.59774|0.59774	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1462;1832;1809|.	B7Z3H9;F5H773;Q9ULL4|.	.;.;PLXB3_HUMAN|.	T|H	1832;1809;1462|168	ENSP00000442736:K1832T;ENSP00000355378:K1809T;ENSP00000445569:K1462T|.	ENSP00000355378:K1809T|.	K|N	+|+	2|1	0|0	PLXNB3|PLXNB3	152696926|152696926	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.870000|0.870000	0.49936|0.49936	7.255000|7.255000	0.78338|0.78338	1.828000|1.828000	0.53243|0.53243	0.430000|0.430000	0.28490|0.28490	AAA|AAC		PASS	0.652	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			27	74	27	74	---	---	---	---
IDH3G	3421	broad.mit.edu	37	X	153053286	153053286	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:153053286C>G	ENST00000217901.5	-	7	728	c.532G>C	c.(532-534)Gag>Cag	p.E178Q	IDH3G_ENST00000427365.2_Missense_Mutation_p.E120Q|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000370093.1_Missense_Mutation_p.E178Q|IDH3G_ENST00000370092.3_Missense_Mutation_p.E178Q	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	178					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.E178Q(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCTCATGCTCCAGGCTGCTG	0.592																																						uc004fip.2																			1	Substitution - Missense(1)		lung(1)		0						c.(532-534)GAG>CAG		isocitrate dehydrogenase 3 (NAD+) gamma isoform	NADH(DB00157)						113.0	95.0	101.0					X																	153053286		2203	4300	6503	SO:0001583	missense	3421				carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chrX:153053286C>G		CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.532G>C	X.37:g.153053286C>G	ENSP00000217901:p.Glu178Gln					IDH3G_uc004fio.2_Missense_Mutation_p.E120Q|IDH3G_uc004fiq.2_Missense_Mutation_p.E178Q|IDH3G_uc010num.2_Missense_Mutation_p.E120Q|IDH3G_uc004fir.2_Missense_Mutation_p.E120Q|IDH3G_uc004fit.1_Missense_Mutation_p.E178Q|IDH3G_uc004fis.2_Missense_Mutation_p.E120Q|IDH3G_uc004fiu.2_5'Flank	p.E178Q	NM_004135	NP_004126	P51553	IDH3G_HUMAN			7	718	-	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		178					E9PDD5|Q9BUU5	Missense_Mutation	SNP	ENST00000217901.5	37	c.532G>C	CCDS14730.1	.	.	.	.	.	.	.	.	.	.	C	32	5.143501	0.94603	.	.	ENSG00000067829	ENST00000370092;ENST00000217901;ENST00000370093;ENST00000427365;ENST00000393771;ENST00000444450;ENST00000444338	T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.54	5.59	5.59	0.84812	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.84986	0.5594	H	0.97635	4.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	D	0.90483	0.4461	10	0.87932	D	0	.	17.2614	0.87071	0.0:1.0:0.0:0.0	.	178;178	E9PDD5;P51553	.;IDH3G_HUMAN	Q	178;178;178;120;74;155;118	ENSP00000359110:E178Q;ENSP00000217901:E178Q;ENSP00000359111:E178Q;ENSP00000408529:E120Q;ENSP00000401862:E155Q;ENSP00000402747:E118Q	ENSP00000217901:E178Q	E	-	1	0	IDH3G	152706480	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.689000	0.84165	2.343000	0.79666	0.529000	0.55759	GAG		PASS	0.592	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061084.27			8	287	8	287	---	---	---	---
FUNDC2	65991	broad.mit.edu	37	X	154280053	154280053	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:154280053G>C	ENST00000369498.3	+	4	723	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	157						mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.E157Q(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GATACCTACTGAGGTCAGGAG	0.463																																						uc004fmw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(469-471)GAG>CAG		FUN14 domain containing 2							112.0	79.0	90.0					X																	154280053		2203	4300	6503	SO:0001583	missense	65991					mitochondrion		g.chrX:154280053G>C	AF267862	CCDS14763.1	Xq28	2010-03-12			ENSG00000165775	ENSG00000165775			24925	protein-coding gene	gene with protein product						12477932	Standard	NM_023934		Approved	HCBP6, DC44	uc004fmw.3	Q9BWH2	OTTHUMG00000013504	ENST00000369498.3:c.469G>C	X.37:g.154280053G>C	ENSP00000358510:p.Glu157Gln						p.E157Q	NM_023934	NP_076423	Q9BWH2	FUND2_HUMAN			4	619	+	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		157					B2R7W5|D3DWY5|Q8NHX8|Q9H2I6	Missense_Mutation	SNP	ENST00000369498.3	37	c.469G>C	CCDS14763.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546467	0.45383	.	.	ENSG00000165775	ENST00000369498	.	.	.	5.14	5.14	0.70334	.	0.144581	0.45126	U	0.000396	T	0.59390	0.2190	L	0.57536	1.79	0.36504	D	0.869177	B	0.22080	0.064	B	0.25614	0.062	T	0.64067	-0.6494	9	0.44086	T	0.13	.	13.2452	0.60020	0.0:0.0:1.0:0.0	.	157	Q9BWH2	FUND2_HUMAN	Q	157	.	ENSP00000358510:E157Q	E	+	1	0	FUNDC2	153933247	1.000000	0.71417	0.888000	0.34837	0.632000	0.37999	5.602000	0.67612	2.277000	0.76020	0.422000	0.28245	GAG		PASS	0.463	FUNDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037641.3	NM_023934		3	126	3	126	---	---	---	---
RAB39B	116442	broad.mit.edu	37	X	154493444	154493444	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chrX:154493444C>A	ENST00000369454.3	-	1	430	c.130G>T	c.(130-132)Gat>Tat	p.D44Y		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	44					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)	p.D44Y(1)		breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GAGAAAAAATCCACCCCCACG	0.597																																						uc004fne.2																			1	Substitution - Missense(1)		lung(1)		0						c.(130-132)GAT>TAT		RAB39B, member RAS oncogene family							81.0	75.0	77.0					X																	154493444		2203	4300	6503	SO:0001583	missense	116442				protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	g.chrX:154493444C>A	AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"""RAB, member RAS oncogene"""	16499	protein-coding gene	gene with protein product		300774	"""mental retardation, X-linked 72"""	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.130G>T	X.37:g.154493444C>A	ENSP00000358466:p.Asp44Tyr						p.D44Y	NM_171998	NP_741995	Q96DA2	RB39B_HUMAN			1	409	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		44			Effector region (By similarity).		Q5JT79|Q8NEX3	Missense_Mutation	SNP	ENST00000369454.3	37	c.130G>T	CCDS14766.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543211	0.86022	.	.	ENSG00000155961	ENST00000369454	D	0.84070	-1.8	4.76	4.76	0.60689	Small GTP-binding protein domain (1);	0.136432	0.47455	D	0.000222	D	0.93628	0.7965	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95482	0.8561	10	0.87932	D	0	.	14.5259	0.67887	0.0:1.0:0.0:0.0	.	44	Q96DA2	RB39B_HUMAN	Y	44	ENSP00000358466:D44Y	ENSP00000358466:D44Y	D	-	1	0	RAB39B	154146638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.706000	0.84615	2.096000	0.63516	0.600000	0.82982	GAT		PASS	0.597	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058792.1	NM_171998		69	144	69	144	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179477935	179477935	+	Frame_Shift_Del	DEL	C	C	-			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr2:179477935delC	ENST00000591111.1	-	214	44902	c.44678delG	c.(44677-44679)ggafs	p.G14893fs	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.G7594fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.G7469fs|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.G7661fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.G13966fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.G16534fs|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14893	Fibronectin type-III 7. {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)			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)			GCTTGGTTTTCCAGGTCCAGC	0.338																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(41896-41898)GGAfs		titin isoform N2-A							90.0	85.0	86.0					2																	179477935		1827	4078	5905	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179477935delC	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.44678delG	2.37:g.179477935delC	ENSP00000465570:p.Gly14893fs					uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.G7661fs|TTN_uc010zfi.1_Frame_Shift_Del_p.G7594fs|TTN_uc010zfj.1_Frame_Shift_Del_p.G7469fs	p.G13966fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		213	42121	-			14893					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	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.41897delG																																																																																						0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		45	53	45	53	---	---	---	---
PCDHGA8	9708	broad.mit.edu	37	5	140774072	140774072	+	Frame_Shift_Del	DEL	C	C	-			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr5:140774072delC	ENST00000398604.2	+	1	1692	c.1692delC	c.(1690-1692)tacfs	p.Y564fs	PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	564					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATCCTGTACCCCGCCCTCC	0.657																																						uc003lkd.1																			0					0						c.(1690-1692)TACfs		protocadherin gamma subfamily A, 8 isoform 1							95.0	110.0	105.0					5																	140774072		2203	4300	6503	SO:0001589	frameshift_variant	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140774072delC	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1692delC	5.37:g.140774072delC	ENSP00000381605:p.Tyr564fs					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_uc003lkb.3_Frame_Shift_Del_p.Y564fs	p.Y564fs	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2590	+			564			Extracellular (Potential).		A7MCZ4|O15039	Frame_Shift_Del	DEL	ENST00000398604.2	37	c.1692delC	CCDS47291.1																																																																																					0.657	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		42	140	42	140	---	---	---	---
SPDYE7P	441251	broad.mit.edu	37	7	72334758	72334758	+	IGR	DEL	G	G	-			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr7:72334758delG								RN7SL625P (22453 upstream) : POM121 (15177 downstream)																							CCTGGCCCTCGGGTTCATGCA	0.542																																						uc010lal.1																			0					0								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.							49.0	55.0	53.0					7																	72334758		692	1591	2283	SO:0001628	intergenic_variant	441251							g.chr7:72334758delG																													7.37:g.72334758delG								NR_003666						1		-									RNA	DEL		37	c.4898delC																																																																																				0		0.542									101	144	101	144	---	---	---	---
PCIF1	63935	broad.mit.edu	37	20	44576331	44576331	+	Frame_Shift_Del	DEL	G	G	-			TCGA-34-2600-01A-01D-1522-08	TCGA-34-2600-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	167e0f4e-e7d3-4942-885a-cf06419bbe6d	2eceada6-384b-4388-adad-1307037333a1	g.chr20:44576331delG	ENST00000372409.3	+	17	2416	c.2052delG	c.(2050-2052)tcgfs	p.S684fs	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	684	Poly-Ser.				negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CGTCCTCCTCGGAGGCCAAGG	0.672																																						uc002xqs.2																			0				skin(1)	1						c.(2050-2052)TCGfs		phosphorylated CTD interacting factor 1							30.0	33.0	32.0					20																	44576331		2202	4297	6499	SO:0001589	frameshift_variant	63935					nucleus		g.chr20:44576331delG	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.2052delG	20.37:g.44576331delG	ENSP00000361486:p.Ser684fs					PCIF1_uc002xqt.2_3'UTR|PCIF1_uc002xqu.2_Frame_Shift_Del_p.S153fs	p.S684fs	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN			17	2366	+			684			Poly-Ser.|Nuclear localization signal (Potential).		E1P5P1|Q54AB9|Q9NT85	Frame_Shift_Del	DEL	ENST00000372409.3	37	c.2052delG	CCDS13388.1																																																																																					0.672	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104		17	59	17	59	---	---	---	---
