#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
ORC1	4998	broad.mit.edu	37	1	52859253	52859253	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:52859253C>T	ENST00000371568.3	-	6	1162	c.944G>A	c.(943-945)cGc>cAc	p.R315H	ORC1_ENST00000371566.1_Missense_Mutation_p.R315H	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	315					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R315H(1)		breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAGGATTATGCGATGTTCAGG	0.468																																						uc001ctt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(943-945)CGC>CAC		origin recognition complex, subunit 1							210.0	190.0	197.0					1																	52859253		2203	4300	6503	SO:0001583	missense	4998				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	g.chr1:52859253C>T		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.944G>A	1.37:g.52859253C>T	ENSP00000360623:p.Arg315His					ORC1L_uc010oni.1_Missense_Mutation_p.R315H|ORC1L_uc001ctu.2_Missense_Mutation_p.R315H|ORC1L_uc009vzd.2_Missense_Mutation_p.R69H	p.R315H	NM_004153	NP_004144	Q13415	ORC1_HUMAN			6	1163	-			315					D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	c.944G>A	CCDS566.1	.	.	.	.	.	.	.	.	.	.	C	9.988	1.230125	0.22542	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.42131	0.98;0.98	4.12	-4.68	0.03309	.	2.624730	0.00644	N	0.000533	T	0.19525	0.0469	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17440	-1.0369	10	0.42905	T	0.14	6.0687	5.953	0.19257	0.0:0.4234:0.3045:0.2721	.	315;315	B7Z8H0;Q13415	.;ORC1_HUMAN	H	315	ENSP00000360623:R315H;ENSP00000360621:R315H	ENSP00000360621:R315H	R	-	2	0	ORC1	52631841	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.800000	0.04555	-0.945000	0.03681	-0.302000	0.09304	CGC		PASS	0.468	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		4	237	4	237	---	---	---	---
FAM159A	348378	broad.mit.edu	37	1	53099337	53099337	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:53099337T>A	ENST00000517870.1	+	1	322	c.172T>A	c.(172-174)Tgg>Agg	p.W58R	FAM159A_ENST00000401050.3_3'UTR	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	58						integral component of membrane (GO:0016021)		p.W58R(1)		endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						CAGCTACATGTGGTGGCTCAG	0.662																																						uc001cuf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(172-174)TGG>AGG		hypothetical protein LOC348378							53.0	56.0	55.0					1																	53099337		2115	4229	6344	SO:0001583	missense	348378					integral to membrane		g.chr1:53099337T>A		CCDS41336.1	1p32.3	2008-08-08			ENSG00000182183	ENSG00000182183			28757	protein-coding gene	gene with protein product						12477932	Standard	NM_001042693		Approved	MGC52498	uc001cuf.3	Q6UWV7	OTTHUMG00000008330	ENST00000517870.1:c.172T>A	1.37:g.53099337T>A	ENSP00000429726:p.Trp58Arg					FAM159A_uc001cug.1_RNA|FAM159A_uc001cuh.2_RNA	p.W58R	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN			1	272	+			58			Helical; (Potential).		Q6ZRG4	Missense_Mutation	SNP	ENST00000517870.1	37	c.172T>A	CCDS41336.1	.	.	.	.	.	.	.	.	.	.	T	19.21	3.783539	0.70222	.	.	ENSG00000182183	ENST00000517870	.	.	.	4.03	4.03	0.46877	.	0.000000	0.64402	U	0.000018	T	0.75332	0.3835	L	0.61218	1.895	0.45403	D	0.998384	D	0.76494	0.999	D	0.87578	0.998	T	0.78516	-0.2174	9	0.87932	D	0	.	13.2919	0.60276	0.0:0.0:0.0:1.0	.	58	Q6UWV7	F159A_HUMAN	R	58	.	ENSP00000429726:W58R	W	+	1	0	FAM159A	52871925	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.869000	0.69613	1.589000	0.49982	0.379000	0.24179	TGG		PASS	0.662	FAM159A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022934.2	NM_001042693		41	110	41	110	---	---	---	---
ROR1	4919	broad.mit.edu	37	1	64643305	64643305	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:64643305G>A	ENST00000371079.1	+	9	1956	c.1581G>A	c.(1579-1581)atG>atA	p.M527I	ROR1_ENST00000545203.1_5'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	527	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.M527I(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CCTCCCTAATGGCAGAACTGC	0.488																																						uc001dbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						c.(1579-1581)ATG>ATA		receptor tyrosine kinase-like orphan receptor 1							218.0	211.0	214.0					1																	64643305		2203	4300	6503	SO:0001583	missense	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64643305G>A	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.1581G>A	1.37:g.64643305G>A	ENSP00000360120:p.Met527Ile					uc001dbm.2_5'Flank	p.M527I	NM_005012	NP_005003	Q01973	ROR1_HUMAN			9	1980	+			527			Cytoplasmic (Potential).|Protein kinase.		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	c.1581G>A	CCDS626.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263477	0.23136	.	.	ENSG00000185483	ENST00000371079;ENST00000544776	D	0.85773	-2.03	5.88	4.96	0.65561	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000075	T	0.69762	0.3147	L	0.41027	1.25	0.80722	D	1	B	0.12630	0.006	B	0.15052	0.012	T	0.66988	-0.5784	10	0.30078	T	0.28	.	14.8825	0.70545	0.0688:0.0:0.9312:0.0	.	527	Q01973	ROR1_HUMAN	I	527;530	ENSP00000360120:M527I	ENSP00000360120:M527I	M	+	3	0	ROR1	64415893	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	8.027000	0.88791	1.477000	0.48234	0.655000	0.94253	ATG		PASS	0.488	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		360	196	360	196	---	---	---	---
SLC44A5	204962	broad.mit.edu	37	1	75679476	75679476	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:75679476C>A	ENST00000370855.5	-	22	1989	c.1876G>T	c.(1876-1878)Gtt>Ttt	p.V626F	SLC44A5_ENST00000370859.3_Missense_Mutation_p.V626F|SLC44A5_ENST00000535611.1_Missense_Mutation_p.V496F	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	626					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V626F(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AAGGCCAGAACACCTACATTG	0.353																																						uc001dgu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1876-1878)GTT>TTT		solute carrier family 44, member 5 isoform A							81.0	78.0	79.0					1																	75679476		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75679476C>A	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1876G>T	1.37:g.75679476C>A	ENSP00000359892:p.Val626Phe					SLC44A5_uc001dgt.2_Missense_Mutation_p.V626F|SLC44A5_uc001dgs.2_Missense_Mutation_p.V584F|SLC44A5_uc001dgr.2_Missense_Mutation_p.V584F|SLC44A5_uc010oqz.1_Missense_Mutation_p.V665F|SLC44A5_uc010ora.1_Missense_Mutation_p.V620F|SLC44A5_uc010orb.1_Missense_Mutation_p.V496F	p.V626F	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN			22	2020	-			626			Helical; (Potential).		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.1876G>T	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944614	0.34283	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.25250	1.81;1.81;1.81	5.26	-5.02	0.02982	.	0.459588	0.24143	N	0.041159	T	0.13243	0.0321	L	0.46819	1.47	0.53005	D	0.999961	P;P;P;P;P	0.51933	0.607;0.607;0.767;0.949;0.553	P;P;P;P;B	0.59643	0.481;0.481;0.562;0.861;0.349	T	0.29427	-1.0012	10	0.23891	T	0.37	-0.0292	3.3337	0.07093	0.0984:0.4627:0.096:0.343	.	620;665;626;626;665	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	F	626;665;626;496;619	ENSP00000359896:V626F;ENSP00000359892:V626F;ENSP00000443090:V496F	ENSP00000359892:V626F	V	-	1	0	SLC44A5	75452064	0.001000	0.12720	0.010000	0.14722	0.086000	0.17979	-0.704000	0.05058	-1.295000	0.02357	0.585000	0.79938	GTT		PASS	0.353	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		45	36	45	36	---	---	---	---
MSH4	4438	broad.mit.edu	37	1	76363642	76363642	+	Silent	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:76363642C>T	ENST00000263187.3	+	18	2510	c.2406C>T	c.(2404-2406)gcC>gcT	p.A802A		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	802					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.A802A(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ATATTGATGCCCTGTATCCTA	0.308								Mismatch excision repair (MMR)																														uc001dhd.1																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)	5						c.(2404-2406)GCC>GCT	MMR	mutS homolog 4							97.0	93.0	94.0					1																	76363642		2203	4295	6498	SO:0001819	synonymous_variant	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76363642C>T	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.2406C>T	1.37:g.76363642C>T							p.A802A	NM_002440	NP_002431	O15457	MSH4_HUMAN			18	2447	+			802					Q5T4U6|Q8NEB3|Q9UNP8	Silent	SNP	ENST00000263187.3	37	c.2406C>T	CCDS670.1																																																																																				PASS	0.308	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		33	16	33	16	---	---	---	---
CLCA2	9635	broad.mit.edu	37	1	86921073	86921073	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:86921073G>A	ENST00000370565.4	+	14	2857	c.2695G>A	c.(2695-2697)Gat>Aat	p.D899N		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	899					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)	p.D899N(1)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ACCTGCCAGAGATTATCTTAT	0.398																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	uc001dlr.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(2695-2697)GAT>AAT		chloride channel accessory 2 precursor							160.0	171.0	168.0					1																	86921073		2203	4300	6503	SO:0001583	missense	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86921073G>A		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2695G>A	1.37:g.86921073G>A	ENSP00000359596:p.Asp899Asn						p.D899N	NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	14	2857	+		Lung NSC(277;0.238)	899			Extracellular (Potential).		A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	c.2695G>A	CCDS708.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.253546	0.22965	.	.	ENSG00000137975	ENST00000370565	T	0.02890	4.12	5.62	4.7	0.59300	.	0.592925	0.17897	N	0.158317	T	0.01092	0.0036	L	0.55481	1.735	0.39001	D	0.959346	B	0.21753	0.06	B	0.18263	0.021	T	0.44205	-0.9343	10	0.09843	T	0.71	-29.0026	5.7137	0.17948	0.2661:0.0:0.7339:0.0	.	899	Q9UQC9	CLCA2_HUMAN	N	899	ENSP00000359596:D899N	ENSP00000359596:D899N	D	+	1	0	CLCA2	86693661	0.996000	0.38824	0.998000	0.56505	0.105000	0.19272	2.264000	0.43302	2.660000	0.90430	0.591000	0.81541	GAT		PASS	0.398	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		47	335	47	335	---	---	---	---
CLCA4	22802	broad.mit.edu	37	1	87025691	87025691	+	Nonsense_Mutation	SNP	T	T	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:87025691T>G	ENST00000370563.3	+	2	278	c.236T>G	c.(235-237)tTa>tGa	p.L79*	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	79	Metalloprotease domain. {ECO:0000250|UniProtKB:A8K7I4}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)	p.L79*(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GTATCTATATTAATTCCTGAG	0.294																																						uc009wcs.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(235-237)TTA>TGA		chloride channel accessory 4							57.0	55.0	56.0					1																	87025691		1791	4052	5843	SO:0001587	stop_gained	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87025691T>G	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.236T>G	1.37:g.87025691T>G	ENSP00000359594:p.Leu79*					CLCA4_uc009wct.2_Translation_Start_Site|CLCA4_uc009wcu.2_Translation_Start_Site	p.L79*	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	2	280	+		Lung NSC(277;0.238)	79					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Nonsense_Mutation	SNP	ENST00000370563.3	37	c.236T>G	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.804680	0.90623	.	.	ENSG00000016602	ENST00000370563	.	.	.	5.96	4.81	0.61882	.	0.326887	0.26234	N	0.025549	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.4935	12.091	0.53726	0.129:0.0:0.0:0.871	.	.	.	.	X	79	.	ENSP00000359594:L79X	L	+	2	0	CLCA4	86798279	1.000000	0.71417	0.992000	0.48379	0.719000	0.41307	5.718000	0.68455	1.043000	0.40175	0.533000	0.62120	TTA		PASS	0.294	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		14	70	14	70	---	---	---	---
RPL5	6125	broad.mit.edu	37	1	93301883	93301883	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:93301883C>T	ENST00000370321.3	+	5	551	c.461C>T	c.(460-462)aCc>aTc	p.T154I	SNORA66_ENST00000515986.1_RNA|SNORD21_ENST00000383953.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	154					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)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.T154I(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GCCAGAACTACCACTGGCAAT	0.498																																						uc001doz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(460-462)ACC>ATC		ribosomal protein L5							89.0	94.0	93.0					1																	93301883		2203	4298	6501	SO:0001583	missense	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93301883C>T	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.461C>T	1.37:g.93301883C>T	ENSP00000359345:p.Thr154Ile					FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_Missense_Mutation_p.T104I|RPL5_uc001dpd.2_5'UTR|SNORD21_uc001dpe.2_5'Flank	p.T154I	NM_000969	NP_000960	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	5	539	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	154					Q32LZ3|Q53HH6|Q9H3F4	Missense_Mutation	SNP	ENST00000370321.3	37	c.461C>T	CCDS741.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903303	0.72754	.	.	ENSG00000122406	ENST00000432788;ENST00000370321;ENST00000315741	T	0.65178	-0.14	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.68393	0.2996	M	0.91972	3.26	0.80722	D	1	B	0.32717	0.381	B	0.39152	0.292	T	0.76759	-0.2841	10	0.87932	D	0	.	18.0014	0.89198	0.0:1.0:0.0:0.0	.	154	P46777	RL5_HUMAN	I	104;154;104	ENSP00000359345:T154I	ENSP00000359338:T104I	T	+	2	0	RPL5	93074471	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	7.637000	0.83313	2.219000	0.72066	0.460000	0.39030	ACC		PASS	0.498	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969		58	110	58	110	---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94461693	94461693	+	Missense_Mutation	SNP	C	C	G	rs281865407		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:94461693C>G	ENST00000370225.3	-	49	6874	c.6788G>C	c.(6787-6789)cGa>cCa	p.R2263P	ABCA4_ENST00000535881.1_Missense_Mutation_p.R382P|ABCA4_ENST00000536513.1_Missense_Mutation_p.R533P	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2263			R -> L (in STGD1).		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.R2263P(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCCAGCAGCTCGAGGGTGCAG	0.527																																						uc001dqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12	GRCh37	CM015096	ABCA4	M		c.(6787-6789)CGA>CCA		ATP-binding cassette, sub-family A member 4							70.0	68.0	69.0					1																	94461693		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94461693C>G	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6788G>C	1.37:g.94461693C>G	ENSP00000359245:p.Arg2263Pro						p.R2263P	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	49	6892	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	2263		R -> L (in STGD1).	Cytoplasmic.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.6788G>C	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.376555	0.61735	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	D;D;D	0.91464	-2.85;-2.29;-2.41	5.76	5.76	0.90799	.	0.609086	0.15985	N	0.235104	D	0.93278	0.7858	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	D	0.90450	0.4438	10	0.27785	T	0.31	.	19.9721	0.97287	0.0:1.0:0.0:0.0	.	2263	P78363	ABCA4_HUMAN	P	1055;2263;533;382	ENSP00000359245:R2263P;ENSP00000439707:R533P;ENSP00000443203:R382P	ENSP00000359245:R2263P	R	-	2	0	ABCA4	94234281	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	3.527000	0.53517	2.724000	0.93272	0.462000	0.41574	CGA		PASS	0.527	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		12	34	12	34	---	---	---	---
LAMTOR5	10542	broad.mit.edu	37	1	110950301	110950301	+	5'UTR	SNP	C	C	A	rs140594819		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:110950301C>A	ENST00000602318.1	-	0	29				LAMTOR5-AS1_ENST00000610148.1_RNA|LAMTOR5-AS1_ENST00000608499.1_RNA|LAMTOR5-AS1_ENST00000457535.1_RNA|LAMTOR5-AS1_ENST00000590826.1_RNA|LAMTOR5-AS1_ENST00000587691.1_RNA|LAMTOR5_ENST00000602858.1_5'Flank|LAMTOR5-AS1_ENST00000598454.1_RNA|LAMTOR5_ENST00000256644.4_Missense_Mutation_p.C63F|LAMTOR5-AS1_ENST00000609244.1_RNA|LAMTOR5-AS1_ENST00000608486.1_RNA|LAMTOR5_ENST00000474861.2_5'Flank|LAMTOR5-AS1_ENST00000608253.1_RNA|LAMTOR5-AS1_ENST00000608067.1_RNA|LAMTOR5-AS1_ENST00000608602.1_RNA|LAMTOR5_ENST00000483260.1_5'Flank|LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000609709.1_RNA|LAMTOR5-AS1_ENST00000609512.1_RNA			O43504	LTOR5_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5						cellular response to amino acid stimulus (GO:0071230)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)|response to virus (GO:0009615)|viral genome replication (GO:0019079)	cytosol (GO:0005829)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)		p.C63F(1)									TTCTCCACCACAGGCCTCAGT	0.602																																						uc001dzr.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|pancreas(1)	3						c.(187-189)TGT>TTT		hepatitis B virus x-interacting protein							86.0	72.0	76.0					1																	110950301		2203	4300	6503	SO:0001623	5_prime_UTR_variant	10542				anti-apoptosis|negative regulation of caspase activity|response to virus|viral genome replication	cytosol	protein binding	g.chr1:110950301C>A	AF029890	CCDS824.1	1p12	2012-09-24	2012-09-24	2012-09-24	ENSG00000134248	ENSG00000134248			17955	protein-coding gene	gene with protein product	"""HBx-interacting protein"", ""hepatitis B virus x-interacting protein (9.6kD)"""	608521	"""hepatitis B virus x interacting protein"""	HBXIP		9499022, 22980980	Standard	NM_006402		Approved	XIP, MGC71071	uc001dzr.3	O43504	OTTHUMG00000011568	ENST00000602318.1:c.-59G>T	1.37:g.110950301C>A							p.C63F	NM_006402	NP_006393	O43504	HBXIP_HUMAN		Lung(183;0.0237)|all cancers(265;0.0675)|Epithelial(280;0.0732)|Colorectal(144;0.102)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	246	-		all_cancers(81;4.08e-06)|all_epithelial(167;4.38e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	Error:Variant_position_missing_in_O43504_after_alignment					Q6IBD8	Missense_Mutation	SNP	ENST00000602318.1	37	c.188G>T		.	.	.	.	.	.	.	.	.	.	C	10.19	1.281325	0.23392	.	.	ENSG00000134248	ENST00000256644	.	.	.	4.55	1.54	0.23209	.	2.159240	0.02615	N	0.102572	T	0.21550	0.0519	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.44267	-0.9339	5	.	.	.	3.2079	13.7676	0.63004	0.0:0.5542:0.4458:0.0	.	.	.	.	F	63	.	.	C	-	2	0	HBXIP	110751824	0.002000	0.14202	0.000000	0.03702	0.051000	0.14879	1.471000	0.35365	0.364000	0.24374	0.563000	0.77884	TGT		PASS	0.602	LAMTOR5-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467909.1	NM_006402		75	12	75	12	---	---	---	---
S100A10	6281	broad.mit.edu	37	1	151955756	151955756	+	Silent	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:151955756C>T	ENST00000368811.3	-	3	836	c.177G>A	c.(175-177)ctG>ctA	p.L59L	S100A10_ENST00000478574.1_5'UTR|S100A10_ENST00000368809.1_Silent_p.L59L	NM_002966.2	NP_002957.1	P60903	S10AA_HUMAN	S100 calcium binding protein A10	59					cellular response to acid chemical (GO:0071229)|establishment of protein localization to plasma membrane (GO:0090002)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|positive regulation of binding (GO:0051099)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein heterotetramerization (GO:0051290)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)	p.L59L(1)		breast(1)|kidney(1)|lung(2)|ovary(2)	6	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TACACTGGTCCAGGTCCTTCA	0.428																																						uc001ezl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(175-177)CTG>CTA		S100 calcium binding protein A10							128.0	129.0	129.0					1																	151955756		2203	4300	6503	SO:0001819	synonymous_variant	6281				signal transduction		calcium ion binding|receptor binding	g.chr1:151955756C>T	BC015973	CCDS1008.1	1q21	2012-04-04	2006-09-11		ENSG00000197747	ENSG00000197747		"""S100 calcium binding proteins"""	10487	protein-coding gene	gene with protein product	"""annexin II tetramer (AIIt) p11 subunit"""	114085	"""S100 calcium-binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11))"", ""S100 calcium binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11))"""	ANX2LG, CAL1L		8276421	Standard	NM_002966		Approved	P11, 42C, CLP11	uc001ezl.3	P60903	OTTHUMG00000013068	ENST00000368811.3:c.177G>A	1.37:g.151955756C>T							p.L59L	NM_002966	NP_002957	P60903	S10AA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	685	-	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		59					A8K4V8|P08206|Q5T1C5	Silent	SNP	ENST00000368811.3	37	c.177G>A	CCDS1008.1																																																																																				PASS	0.428	S100A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036673.1	NM_002966		45	73	45	73	---	---	---	---
FCRL3	115352	broad.mit.edu	37	1	157666083	157666083	+	Silent	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:157666083C>A	ENST00000368184.3	-	7	1170	c.879G>T	c.(877-879)cgG>cgT	p.R293R	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.R293R|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	293	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R293R(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CTCCGGTGGGCCGGATCTCTA	0.522																																						uc001frb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(877-879)CGG>CGT		Fc receptor-like 3 precursor							92.0	88.0	89.0					1																	157666083		2203	4300	6503	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157666083C>A	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.879G>T	1.37:g.157666083C>A						FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.R293R|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Silent_p.R19R|FCRL3_uc001frc.1_Silent_p.R293R	p.R293R	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN			7	1171	-	all_hematologic(112;0.0378)		293			Ig-like C2-type 4.|Extracellular (Potential).		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.879G>T	CCDS1167.1																																																																																				PASS	0.522	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		72	76	72	76	---	---	---	---
SLAMF6	114836	broad.mit.edu	37	1	160465888	160465888	+	Silent	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:160465888G>T	ENST00000368057.3	-	2	405	c.345C>A	c.(343-345)acC>acA	p.T115T	SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368059.3_Silent_p.T115T			Q96DU3	SLAF6_HUMAN	SLAM family member 6	115	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.T115T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GCTTTGCAGAGGTCTTTGTGG	0.428																																						uc001fwe.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(343-345)ACC>ACA		activating NK receptor precursor							151.0	145.0	147.0					1																	160465888		2203	4300	6503	SO:0001819	synonymous_variant	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160465888G>T	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.345C>A	1.37:g.160465888G>T						SLAMF6_uc001fwd.1_Silent_p.T115T|SLAMF6_uc010pjh.1_Silent_p.T66T|SLAMF6_uc010pji.1_Intron|SLAMF6_uc010pjj.1_Intron|SLAMF6_uc009wtm.1_Silent_p.T66T	p.T115T	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		2	405	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		115			Extracellular (Potential).		A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Silent	SNP	ENST00000368057.3	37	c.345C>A	CCDS53394.1																																																																																				PASS	0.428	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		42	77	42	77	---	---	---	---
C1orf112	55732	broad.mit.edu	37	1	169775194	169775194	+	Silent	SNP	T	T	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:169775194T>C	ENST00000286031.6	+	7	1228	c.528T>C	c.(526-528)caT>caC	p.H176H	C1orf112_ENST00000359326.4_Silent_p.H176H|C1orf112_ENST00000456684.1_Silent_p.H234H|C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000413811.2_Silent_p.H147H	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	176								p.H176H(1)		breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTATGGACCATGCATTTCATG	0.299																																						uc001ggp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(526-528)CAT>CAC		hypothetical protein LOC55732							104.0	95.0	98.0					1																	169775194		2203	4295	6498	SO:0001819	synonymous_variant	55732							g.chr1:169775194T>C	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.528T>C	1.37:g.169775194T>C						C1orf112_uc001ggj.2_RNA|C1orf112_uc001ggq.2_Silent_p.H176H|C1orf112_uc009wvt.2_5'UTR|C1orf112_uc010plu.1_Silent_p.H147H|C1orf112_uc009wvu.1_Silent_p.H147H|C1orf112_uc001ggr.2_Silent_p.H41H|C1orf112_uc010plv.1_Silent_p.H118H	p.H176H	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN			8	838	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		176					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Silent	SNP	ENST00000286031.6	37	c.528T>C	CCDS1285.1																																																																																				PASS	0.299	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		4	9	4	9	---	---	---	---
KIFAP3	22920	broad.mit.edu	37	1	170024518	170024518	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:170024518T>C	ENST00000361580.2	-	2	319	c.92A>G	c.(91-93)tAt>tGt	p.Y31C	KIFAP3_ENST00000367765.1_5'UTR|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000538366.1_5'UTR|KIFAP3_ENST00000367767.1_Intron	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	31					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)	p.Y31C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCCACTTCATAGTGAACAAT	0.338																																						uc001ggv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(91-93)TAT>TGT		kinesin-associated protein 3							103.0	99.0	100.0					1																	170024518		2203	4300	6503	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:170024518T>C	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.92A>G	1.37:g.170024518T>C	ENSP00000354560:p.Tyr31Cys					KIFAP3_uc010ply.1_5'UTR|KIFAP3_uc001ggw.1_Intron	p.Y31C	NM_014970	NP_055785	Q92845	KIFA3_HUMAN			2	363	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		31					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.92A>G	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.073908	0.76415	.	.	ENSG00000075945	ENST00000361580	T	0.58940	0.3	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.72087	0.3417	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76429	-0.2962	9	.	.	.	-16.7782	14.7214	0.69308	0.0:0.0:0.0:1.0	.	31	Q92845	KIFA3_HUMAN	C	31	ENSP00000354560:Y31C	.	Y	-	2	0	KIFAP3	168291142	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.606000	0.82863	1.962000	0.57031	0.482000	0.46254	TAT		PASS	0.338	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		14	18	14	18	---	---	---	---
FMO2	2327	broad.mit.edu	37	1	171154984	171154984	+	Splice_Site	SNP	A	A	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:171154984A>T	ENST00000209929.7	+	2	290	c.132A>T	c.(130-132)aaA>aaT	p.K44N	FMO2_ENST00000441535.1_Splice_Site_p.K44N|FMO2_ENST00000529935.1_Intron			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	44					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.K44N(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGAGGTTCAAAGTAAGTGAGA	0.418																																						uc001ghk.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(130-132)AAA>AAT		flavin containing monooxygenase 2							222.0	217.0	219.0					1																	171154984		2203	4300	6503	SO:0001630	splice_region_variant	2327				drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171154984A>T	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.132+1A>T	1.37:g.171154984A>T						FMO2_uc010pmd.1_Intron	p.K44N	NM_001460	NP_001451	Q99518	FMO2_HUMAN			2	249	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		44					Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	c.132A>T	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.116393	0.56505	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.54479	0.57;0.57	5.53	1.84	0.25277	.	0.044485	0.85682	D	0.000000	T	0.15349	0.0370	N	0.16862	0.45	0.45139	D	0.998151	B	0.18741	0.03	B	0.21708	0.036	T	0.04693	-1.0933	10	0.37606	T	0.19	-16.2668	5.5232	0.16943	0.7249:0.0:0.1475:0.1277	.	44	Q99518	FMO2_HUMAN	N	44	ENSP00000209929:K44N;ENSP00000405905:K44N	ENSP00000209929:K44N	K	+	3	2	FMO2	169421608	0.999000	0.42202	1.000000	0.80357	0.964000	0.63967	0.648000	0.24828	0.366000	0.24427	0.459000	0.35465	AAA		PASS	0.418	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460	Missense_Mutation	9	228	9	228	---	---	---	---
FMO1	2326	broad.mit.edu	37	1	171251339	171251339	+	Silent	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:171251339C>A	ENST00000354841.4	+	6	1181	c.1050C>A	c.(1048-1050)gcC>gcA	p.A350A	FMO1_ENST00000367750.3_Silent_p.A350A|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Silent_p.A287A	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	350					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.A350A(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	ATGGCCAGGCCTCACTGTACA	0.463																																						uc009wvz.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1048-1050)GCC>GCA		flavin containing monooxygenase 1							156.0	135.0	142.0					1																	171251339		2203	4300	6503	SO:0001819	synonymous_variant	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171251339C>A	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.1050C>A	1.37:g.171251339C>A						FMO1_uc010pme.1_Silent_p.A287A|FMO1_uc001ghl.2_Silent_p.A350A|FMO1_uc001ghm.2_Silent_p.A350A|FMO1_uc001ghn.2_Silent_p.A350A	p.A350A	NM_002021	NP_002012	Q01740	FMO1_HUMAN			7	1186	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		350					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Silent	SNP	ENST00000354841.4	37	c.1050C>A	CCDS1294.1																																																																																				PASS	0.463	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		62	59	62	59	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176838084	176838084	+	Silent	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:176838084C>A	ENST00000367654.3	-	22	3778	c.3567G>T	c.(3565-3567)ctG>ctT	p.L1189L	ASTN1_ENST00000361833.2_Silent_p.L1181L|ASTN1_ENST00000424564.2_Silent_p.L1181L|ASTN1_ENST00000367657.3_Silent_p.L1181L	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1189					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.L1181L(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AACCCAGATCCAGGAGGGTGT	0.502																																						uc001glc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(3541-3543)CTG>CTT		astrotactin isoform 1							164.0	150.0	155.0					1																	176838084		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176838084C>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3567G>T	1.37:g.176838084C>A						ASTN1_uc001glb.1_Silent_p.L1181L|ASTN1_uc001gld.1_Silent_p.L1181L	p.L1181L	NM_004319	NP_004310	O14525	ASTN1_HUMAN			22	3755	-			1189					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.3543G>T																																																																																					PASS	0.502	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		32	38	32	38	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186276446	186276446	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:186276446C>G	ENST00000445192.2	+	7	1640	c.1595C>G	c.(1594-1596)aCc>aGc	p.T532S	PRG4_ENST00000367486.3_Missense_Mutation_p.T489S|PRG4_ENST00000367483.4_Missense_Mutation_p.T491S|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T439S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	532	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T532S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TCTGCACCCACCACTACCAAG	0.642																																						uc001gru.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1594-1596)ACC>AGC		proteoglycan 4 isoform A							137.0	121.0	126.0					1																	186276446		2203	4298	6501	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276446C>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1595C>G	1.37:g.186276446C>G	ENSP00000399679:p.Thr532Ser					PRG4_uc001grt.3_Missense_Mutation_p.T491S|PRG4_uc009wyl.2_Missense_Mutation_p.T439S|PRG4_uc009wym.2_Missense_Mutation_p.T398S|PRG4_uc010poo.1_Intron	p.T532S	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	1646	+			532			59 X 8 AA repeats of K-X-P-X-P-T-T-X.|24; approximate.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1595C>G	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	c	5.154	0.214091	0.09810	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.04275	3.7;3.84;3.66;3.82	2.82	-0.477	0.12097	.	.	.	.	.	T	0.04092	0.0114	L	0.34521	1.04	0.09310	N	1	P;P;P;P	0.40834	0.73;0.73;0.61;0.73	B;B;B;B	0.38020	0.263;0.205;0.101;0.263	T	0.43294	-0.9400	8	.	.	.	.	9.2719	0.37677	0.0:0.7245:0.0:0.2755	.	398;439;532;491	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	S	489;398;491;439;532	ENSP00000356456:T489S;ENSP00000356453:T491S;ENSP00000356455:T439S;ENSP00000399679:T532S	.	T	+	2	0	PRG4	184543069	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.558000	0.23469	-0.158000	0.11040	0.000000	0.15137	ACC		PASS	0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		73	91	73	91	---	---	---	---
CFHR2	3080	broad.mit.edu	37	1	196918750	196918750	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:196918750A>G	ENST00000367415.5	+	2	324	c.224A>G	c.(223-225)gAa>gGa	p.E75G	CFHR2_ENST00000496448.1_Intron|CFHR2_ENST00000367421.3_Missense_Mutation_p.E75G|CFHR2_ENST00000476712.2_Missense_Mutation_p.E75G	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	75	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)		p.E75G(1)		large_intestine(2)|ovary(1)|skin(3)	6						TGCGCAGAAGAAGGATGGTCA	0.403																																						uc001gtq.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(223-225)GAA>GGA		H factor (complement)-like 3 precursor							103.0	88.0	93.0					1																	196918750		2203	4300	6503	SO:0001583	missense	3080					extracellular region		g.chr1:196918750A>G	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.224A>G	1.37:g.196918750A>G	ENSP00000356385:p.Glu75Gly					CFHR2_uc001gtr.1_Intron	p.E75G	NM_005666	NP_005657	P36980	FHR2_HUMAN			2	301	+			75			Sushi 1.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	37	c.224A>G	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	8.742	0.919231	0.17982	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.55413	0.52;0.52	3.33	-0.506	0.11989	Complement control module (2);Sushi/SCR/CCP (2);	1.117960	0.07073	N	0.835836	T	0.29256	0.0728	N	0.19112	0.55	0.09310	N	1	B	0.22541	0.071	B	0.27170	0.077	T	0.24333	-1.0163	10	0.02654	T	1	.	2.9002	0.05703	0.4768:0.2425:0.2807:0.0	.	75	P36980	FHR2_HUMAN	G	75	ENSP00000356391:E75G;ENSP00000356385:E75G	ENSP00000356385:E75G	E	+	2	0	CFHR2	195185373	0.000000	0.05858	0.018000	0.16275	0.037000	0.13140	-0.503000	0.06383	0.019000	0.15079	0.416000	0.27883	GAA		PASS	0.403	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		11	14	11	14	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201009495	201009495	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:201009495C>A	ENST00000362061.3	-	43	5460	c.5234G>T	c.(5233-5235)aGg>aTg	p.R1745M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R1726M|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1745					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R1745M(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGACTCCACCCTGGGGCACTG	0.552																																						uc001gvv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(5233-5235)AGG>ATG		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						27.0	27.0	27.0					1																	201009495		2203	4299	6502	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201009495C>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.5234G>T	1.37:g.201009495C>A	ENSP00000355192:p.Arg1745Met						p.R1745M	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			43	5461	-			1745			Cytoplasmic (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.5234G>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	9.264	1.043883	0.19748	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96232	-3.95;-3.88	4.34	0.259	0.15583	.	30.375700	0.00166	N	0.000000	D	0.90714	0.7086	N	0.08118	0	0.09310	N	1	B	0.20164	0.042	B	0.24541	0.054	D	0.83588	0.0121	10	0.41790	T	0.15	.	6.3606	0.21427	0.0:0.5572:0.0:0.4428	.	1745	Q13698	CAC1S_HUMAN	M	1745;1726	ENSP00000355192:R1745M;ENSP00000356307:R1726M	ENSP00000355192:R1745M	R	-	2	0	CACNA1S	199276118	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	0.051000	0.14141	0.003000	0.14656	-0.503000	0.04515	AGG		PASS	0.552	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		15	13	15	13	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215956148	215956148	+	Missense_Mutation	SNP	G	G	T	rs397517966		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:215956148G>T	ENST00000307340.3	-	53	10903	c.10517C>A	c.(10516-10518)aCg>aAg	p.T3506K	USH2A_ENST00000366943.2_Missense_Mutation_p.T3506K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3506	Fibronectin type-III 20. {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.T3506K(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)		TTTGGTCCACGTAGGGGGACT	0.408										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.(10516-10518)ACG>AAG		usherin isoform B							104.0	97.0	100.0					1																	215956148		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.chr1:215956148G>T	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.10517C>A	1.37:g.215956148G>T	ENSP00000305941:p.Thr3506Lys	HNSCC(13;0.011)					p.T3506K	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	53	10904	-			3506			Extracellular (Potential).|Fibronectin type-III 20.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10517C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	g	0.006	-2.069685	0.00382	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53857	0.6;0.6	5.22	-5.31	0.02730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.584840	0.14023	U	0.346694	T	0.19886	0.0478	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33266	-0.9875	10	0.06099	T	0.92	.	1.4323	0.02336	0.1635:0.2147:0.3266:0.2952	.	3506	O75445	USH2A_HUMAN	K	3506	ENSP00000305941:T3506K;ENSP00000355910:T3506K	ENSP00000305941:T3506K	T	-	2	0	USH2A	214022771	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-1.543000	0.02194	-0.894000	0.03925	-2.130000	0.00343	ACG		PASS	0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		16	33	16	33	---	---	---	---
HHIPL2	79802	broad.mit.edu	37	1	222713639	222713639	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:222713639G>C	ENST00000343410.6	-	4	1221	c.1163C>G	c.(1162-1164)gCa>gGa	p.A388G		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	388					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.A388G(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		ATGTGAGCCTGCCCTGTTCAC	0.522																																						uc001hnh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1162-1164)GCA>GGA		HHIP-like 2 precursor							68.0	64.0	66.0					1																	222713639		2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222713639G>C	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1163C>G	1.37:g.222713639G>C	ENSP00000342118:p.Ala388Gly						p.A388G	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	4	1221	-			388					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.1163C>G	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	G	2.237	-0.374662	0.05034	.	.	ENSG00000143512	ENST00000343410	T	0.11169	2.8	4.95	1.72	0.24424	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.297644	0.33813	N	0.004539	T	0.07413	0.0187	N	0.25890	0.77	0.09310	N	1	B	0.26975	0.165	B	0.28385	0.089	T	0.36114	-0.9761	10	0.24483	T	0.36	-7.0741	10.2772	0.43517	0.0885:0.4134:0.498:0.0	.	388	Q6UWX4	HIPL2_HUMAN	G	388	ENSP00000342118:A388G	ENSP00000342118:A388G	A	-	2	0	HHIPL2	220780262	0.000000	0.05858	0.003000	0.11579	0.240000	0.25518	-0.029000	0.12329	0.472000	0.27344	-0.657000	0.03884	GCA		PASS	0.522	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		14	73	14	73	---	---	---	---
MTR	4548	broad.mit.edu	37	1	237044071	237044071	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:237044071A>C	ENST00000366577.5	+	25	3005	c.2611A>C	c.(2611-2613)Aaa>Caa	p.K871Q	MTR_ENST00000535889.1_Missense_Mutation_p.K820Q	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	871	B12-binding. {ECO:0000255|PROSITE- ProRule:PRU00666}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|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)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.K871Q(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CACAGCAGTTAAAATAGCTCC	0.433																																						uc001hyi.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2611-2613)AAA>CAA		5-methyltetrahydrofolate-homocysteine	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						144.0	144.0	144.0					1																	237044071		2203	4300	6503	SO:0001583	missense	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237044071A>C	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2611A>C	1.37:g.237044071A>C	ENSP00000355536:p.Lys871Gln					MTR_uc010pxw.1_Missense_Mutation_p.K464Q|MTR_uc010pxx.1_Missense_Mutation_p.K820Q|MTR_uc010pxy.1_Missense_Mutation_p.K725Q	p.K871Q	NM_000254	NP_000245	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	25	3034	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	871			B12-binding.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	c.2611A>C	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	A	18.47	3.630425	0.67015	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	T;T;T	0.73789	-0.78;-0.78;-0.78	4.46	4.46	0.54185	Cobalamin (vitamin B12)-binding (3);	0.000000	0.85682	D	0.000000	D	0.91523	0.7323	H	0.98901	4.365	0.45867	D	0.998724	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94637	0.7827	10	0.87932	D	0	-22.7973	14.193	0.65652	1.0:0.0:0.0:0.0	.	871;820;871	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	Q	725;871;820;425	ENSP00000355536:K871Q;ENSP00000441845:K820Q;ENSP00000355535:K425Q	ENSP00000355535:K425Q	K	+	1	0	MTR	235110694	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	8.438000	0.90305	2.008000	0.58898	0.379000	0.24179	AAA		PASS	0.433	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		14	70	14	70	---	---	---	---
TRIM58	25893	broad.mit.edu	37	1	248028195	248028195	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:248028195G>T	ENST00000366481.3	+	3	753	c.705G>T	c.(703-705)gaG>gaT	p.E235D		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	235						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E235D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGCGGATGAGCTGCAGGAGA	0.662																																						uc001ido.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(703-705)GAG>GAT		tripartite motif-containing 58							13.0	17.0	16.0					1																	248028195		2199	4290	6489	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248028195G>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.705G>T	1.37:g.248028195G>T	ENSP00000355437:p.Glu235Asp						p.E235D	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	753	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	235			Potential.		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.705G>T	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001133	0.35320	.	.	ENSG00000162722	ENST00000366481	T	0.09445	2.98	4.35	-9.61E-4	0.14036	.	0.000000	0.52532	D	0.000062	T	0.10035	0.0246	L	0.46670	1.46	0.09310	N	1	B	0.32040	0.353	B	0.39379	0.298	T	0.21143	-1.0254	10	0.34782	T	0.22	.	4.9338	0.13930	0.3177:0.1589:0.5235:0.0	.	235	Q8NG06	TRI58_HUMAN	D	235	ENSP00000355437:E235D	ENSP00000355437:E235D	E	+	3	2	TRIM58	246094818	0.998000	0.40836	0.261000	0.24466	0.132000	0.20833	1.170000	0.31883	0.124000	0.18369	0.655000	0.94253	GAG		PASS	0.662	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		7	1	7	1	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26695482	26695482	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:26695482C>A	ENST00000272371.2	-	30	3895	c.3769G>T	c.(3769-3771)Ggg>Tgg	p.G1257W	OTOF_ENST00000403946.3_Missense_Mutation_p.G1257W|OTOF_ENST00000338581.6_Intron|OTOF_ENST00000402415.3_Missense_Mutation_p.G567W|OTOF_ENST00000339598.3_Intron	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1257					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.G567W(1)|p.G1257W(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGAGCCCCCATTGCACAGC	0.577																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(3769-3771)GGG>TGG		otoferlin isoform a							59.0	50.0	53.0					2																	26695482		2202	4300	6502	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26695482C>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3769G>T	2.37:g.26695482C>A	ENSP00000272371:p.Gly1257Trp					OTOF_uc010yla.1_5'UTR|OTOF_uc002rhh.2_Intron|OTOF_uc002rhi.2_Missense_Mutation_p.G567W|OTOF_uc002rhj.2_Intron	p.G1257W	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			30	3896	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1257			Cytoplasmic (Potential).		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.3769G>T	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597057	0.66332	.	.	ENSG00000115155	ENST00000402415;ENST00000272371;ENST00000403946	T;T;T	0.80653	-1.13;-1.4;-1.4	4.93	4.93	0.64822	C2 calcium/lipid-binding domain, CaLB (1);	0.464051	0.23378	N	0.048832	D	0.88433	0.6435	M	0.67953	2.075	0.58432	D	0.999999	D;B	0.89917	1.0;0.002	D;B	0.97110	1.0;0.007	D	0.88126	0.2835	9	.	.	.	-24.9528	16.7288	0.85430	0.0:1.0:0.0:0.0	.	1257;567	Q9HC10;Q9HC10-3	OTOF_HUMAN;.	W	567;1257;1257	ENSP00000383906:G567W;ENSP00000272371:G1257W;ENSP00000385255:G1257W	.	G	-	1	0	OTOF	26548986	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	2.287000	0.43505	2.295000	0.77249	0.561000	0.74099	GGG		PASS	0.577	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			43	32	43	32	---	---	---	---
KHK	3795	broad.mit.edu	37	2	27322328	27322328	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:27322328G>T	ENST00000260599.6	+	7	1207	c.694G>T	c.(694-696)Gcc>Tcc	p.A232S	KHK_ENST00000490823.1_3'UTR|CGREF1_ENST00000402550.1_3'UTR|CGREF1_ENST00000452318.2_3'UTR|KHK_ENST00000260598.5_Missense_Mutation_p.A232S	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	232					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)	p.A232S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCGCCGACGCCCTGGGCCC	0.652																																						uc002ril.2																			2	Substitution - Missense(2)		lung(2)		0						c.(694-696)GCC>TCC		ketohexokinase isoform a							67.0	69.0	68.0					2																	27322328		2203	4300	6503	SO:0001583	missense	3795				fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding	g.chr2:27322328G>T		CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.694G>T	2.37:g.27322328G>T	ENSP00000260599:p.Ala232Ser					KHK_uc002rim.2_Missense_Mutation_p.A232S|KHK_uc002rin.2_Missense_Mutation_p.A233S|KHK_uc002rio.2_Missense_Mutation_p.A148S|CGREF1_uc010ylf.1_3'UTR|CGREF1_uc002rip.1_3'UTR	p.A232S	NM_000221	NP_000212	P50053	KHK_HUMAN			7	1211	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		232					Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	ENST00000260599.6	37	c.694G>T	CCDS1734.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997530	0.93227	.	.	ENSG00000138030	ENST00000260599;ENST00000260598;ENST00000429697	T;T;T	0.78595	-1.19;-1.19;-0.44	5.29	5.29	0.74685	Carbohydrate/purine kinase (1);	0.000000	0.85682	D	0.000000	D	0.88901	0.6563	M	0.84511	2.7	0.80722	D	1	P;D;P;D	0.89917	0.906;1.0;0.895;1.0	P;D;D;D	0.97110	0.902;1.0;0.909;1.0	D	0.88987	0.3412	10	0.42905	T	0.14	-5.0537	16.4334	0.83861	0.0:0.0:1.0:0.0	.	232;232;232;232	Q53G56;Q6IBK2;P50053-2;P50053	.;.;.;KHK_HUMAN	S	232;232;277	ENSP00000260599:A232S;ENSP00000260598:A232S;ENSP00000404741:A277S	ENSP00000260598:A232S	A	+	1	0	KHK	27175832	1.000000	0.71417	0.951000	0.38953	0.623000	0.37688	9.466000	0.97665	2.469000	0.83416	0.555000	0.69702	GCC		PASS	0.652	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1			31	124	31	124	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27802639	27802639	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:27802639T>A	ENST00000408964.2	+	1	3251	c.3200T>A	c.(3199-3201)cTc>cAc	p.L1067H	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1067						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.L1067H(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAACACTCCCTCAAGCCAAAT	0.428																																						uc002rkz.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(3199-3201)CTC>CAC		hypothetical protein LOC84226							124.0	124.0	124.0					2																	27802639		1939	4151	6090	SO:0001583	missense	84226							g.chr2:27802639T>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3200T>A	2.37:g.27802639T>A	ENSP00000386190:p.Leu1067His						p.L1067H	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	3251	+	Acute lymphoblastic leukemia(172;0.155)		1067					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.3200T>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	T	9.138	1.013075	0.19277	.	.	ENSG00000221843	ENST00000408964	T	0.15256	2.44	4.93	-0.97	0.10306	.	.	.	.	.	T	0.11110	0.0271	L	0.32530	0.975	0.09310	N	1	B	0.26809	0.16	B	0.31290	0.127	T	0.40232	-0.9574	9	0.87932	D	0	.	0.3658	0.00371	0.1858:0.2467:0.1916:0.3759	.	1067	Q68DN1	CB016_HUMAN	H	1067	ENSP00000386190:L1067H	ENSP00000386190:L1067H	L	+	2	0	C2orf16	27656143	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	-0.419000	0.07071	-0.011000	0.14247	-0.687000	0.03738	CTC		PASS	0.428	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		79	75	79	75	---	---	---	---
CCDC121	79635	broad.mit.edu	37	2	27850557	27850557	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:27850557C>G	ENST00000324364.3	-	2	290	c.110G>C	c.(109-111)aGa>aCa	p.R37T	GPN1_ENST00000424214.1_5'Flank|GPN1_ENST00000264718.3_5'Flank|GPN1_ENST00000503738.1_5'Flank|GPN1_ENST00000610189.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000407583.3_5'Flank|CCDC121_ENST00000394775.3_Missense_Mutation_p.R199T|ZNF512_ENST00000556601.1_Intron|GPN1_ENST00000515877.1_5'Flank|GPN1_ENST00000458167.2_5'Flank	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	37								p.R37T(1)|p.R199T(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					CAGAAAGAATCTGTTTTCAGC	0.423																																						uc002rle.2																			2	Substitution - Missense(2)		lung(2)		0						c.(109-111)AGA>ACA		coiled-coil domain containing 121 isoform 3							113.0	119.0	117.0					2																	27850557		2203	4298	6501	SO:0001583	missense	79635							g.chr2:27850557C>G	AK125354	CCDS1759.1, CCDS46247.1	2p23.2	2008-02-05			ENSG00000176714	ENSG00000176714			25833	protein-coding gene	gene with protein product							Standard	NM_024584		Approved	FLJ43364, FLJ13646	uc002rld.3	Q6ZUS5	OTTHUMG00000128427	ENST00000324364.3:c.110G>C	2.37:g.27850557C>G	ENSP00000339087:p.Arg37Thr					ZNF512_uc010yly.1_Intron|CCDC121_uc010eze.2_Missense_Mutation_p.R201T|CCDC121_uc002rld.2_Missense_Mutation_p.R199T|GPN1_uc010ezf.2_5'Flank|GPN1_uc010yma.1_5'Flank|GPN1_uc010ymb.1_5'Flank|GPN1_uc010ymc.1_5'Flank|GPN1_uc010ymd.1_5'Flank|GPN1_uc010yme.1_5'Flank|GPN1_uc010ezg.1_5'Flank	p.R37T	NM_024584	NP_078860	Q6ZUS5	CC121_HUMAN			2	291	-	Acute lymphoblastic leukemia(172;0.155)		37					B3KW66|J3KQZ8|Q9H8G6	Missense_Mutation	SNP	ENST00000324364.3	37	c.110G>C	CCDS1759.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720921	0.30503	.	.	ENSG00000176714	ENST00000324364;ENST00000394775	T;T	0.32023	1.47;1.47	4.67	-3.08	0.05347	.	1.800230	0.03264	N	0.183681	T	0.21307	0.0513	L	0.29908	0.895	0.09310	N	1	B	0.32160	0.358	B	0.29716	0.106	T	0.35599	-0.9782	10	0.62326	D	0.03	-4.6973	6.1181	0.20137	0.0:0.5207:0.1812:0.2981	.	37	Q6ZUS5	CC121_HUMAN	T	37;199	ENSP00000339087:R37T;ENSP00000412150:R199T	ENSP00000339087:R37T	R	-	2	0	CCDC121	27704061	0.054000	0.20591	0.018000	0.16275	0.008000	0.06430	0.054000	0.14205	-0.090000	0.12462	-0.469000	0.05056	AGA		PASS	0.423	CCDC121-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250215.1	NM_024584		139	139	139	139	---	---	---	---
CDC42EP3	10602	broad.mit.edu	37	2	37873049	37873049	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:37873049T>A	ENST00000295324.3	-	2	1682	c.682A>T	c.(682-684)Aca>Tca	p.T228S	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	228					regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	cytoskeletal regulatory protein binding (GO:0005519)	p.T228S(1)		endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				AGGGAACCTGTAAGGTCAGAG	0.498																																						uc002rqi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(682-684)ACA>TCA		Cdc42 effector protein 3							70.0	74.0	72.0					2																	37873049		2203	4300	6503	SO:0001583	missense	10602				regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding	g.chr2:37873049T>A	AF094521	CCDS1791.1	2p21	2008-05-21			ENSG00000163171	ENSG00000163171			16943	protein-coding gene	gene with protein product		606133				9535835, 11035016	Standard	NM_001270436		Approved	CEP3, UB1, BORG2	uc031rnz.1	Q9UKI2	OTTHUMG00000100971	ENST00000295324.3:c.682A>T	2.37:g.37873049T>A	ENSP00000295324:p.Thr228Ser						p.T228S	NM_006449	NP_006440	Q9UKI2	BORG2_HUMAN			2	1675	-		all_hematologic(82;0.172)	228					B2R8S0|O95353|Q9UQJ0	Missense_Mutation	SNP	ENST00000295324.3	37	c.682A>T	CCDS1791.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.985176	0.35036	.	.	ENSG00000163171	ENST00000295324	T	0.27890	1.64	5.91	5.91	0.95273	.	0.094992	0.64402	D	0.000001	T	0.16685	0.0401	N	0.24115	0.695	0.41847	D	0.990151	P	0.42908	0.793	B	0.35655	0.207	T	0.09100	-1.0690	10	0.16420	T	0.52	.	8.765	0.34698	0.0:0.0829:0.0:0.9171	.	228	Q9UKI2	BORG2_HUMAN	S	228	ENSP00000295324:T228S	ENSP00000295324:T228S	T	-	1	0	CDC42EP3	37726553	1.000000	0.71417	0.603000	0.28903	0.964000	0.63967	3.715000	0.54897	2.254000	0.74563	0.533000	0.62120	ACA		PASS	0.498	CDC42EP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218581.3	NM_006449		47	75	47	75	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50464025	50464025	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:50464025C>A	ENST00000406316.2	-	18	4924	c.3448G>T	c.(3448-3450)Gac>Tac	p.D1150Y	NRXN1_ENST00000401669.2_Missense_Mutation_p.D1150Y|NRXN1_ENST00000406859.3_Missense_Mutation_p.D1150Y|NRXN1_ENST00000405472.3_Missense_Mutation_p.D1142Y|NRXN1_ENST00000404971.1_Missense_Mutation_p.D1190Y|NRXN1_ENST00000402717.3_Missense_Mutation_p.D1142Y|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401710.1_Missense_Mutation_p.D168Y|NRXN1_ENST00000342183.5_Missense_Mutation_p.D115Y	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1150	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.D1190Y(1)|p.D115Y(1)|p.D1150Y(1)|p.D1191Y(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCAGTCTGTCTGCTCGTGTA	0.468																																						uc010fbp.2																			4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(343-345)GAC>TAC		neurexin 1 isoform beta precursor							135.0	121.0	125.0					2																	50464025		2203	4300	6503	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50464025C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3448G>T	2.37:g.50464025C>A	ENSP00000384311:p.Asp1150Tyr					NRXN1_uc002rxb.3_Missense_Mutation_p.D822Y|NRXN1_uc010fbq.2_Missense_Mutation_p.D1190Y|NRXN1_uc002rxe.3_Missense_Mutation_p.D1150Y|NRXN1_uc002rxc.1_RNA	p.D115Y	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1150	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	115			Extracellular (Potential).|Laminin G-like.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.343G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991578	0.93106	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.79352	1.02;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.54	5.54	0.83059	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.000000	0.64402	U	0.000006	D	0.91057	0.7186	M	0.91459	3.21	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.92609	0.6098	10	0.87932	D	0	.	19.4841	0.95022	0.0:1.0:0.0:0.0	.	1190;115;1150;1142	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	Y	115;69;168;1190;1150;1142;1150;1191;1142;1150	ENSP00000341184:D115Y;ENSP00000385580:D168Y;ENSP00000385142:D1190Y;ENSP00000384311:D1150Y;ENSP00000434015:D1142Y;ENSP00000385017:D1150Y;ENSP00000385434:D1142Y;ENSP00000385681:D1150Y	ENSP00000341184:D115Y	D	-	1	0	NRXN1	50317529	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.731000	0.84895	2.592000	0.87571	0.650000	0.86243	GAC		PASS	0.468	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			26	58	26	58	---	---	---	---
SPTBN1	6711	broad.mit.edu	37	2	54856704	54856704	+	Silent	SNP	C	C	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:54856704C>G	ENST00000356805.4	+	14	2714	c.2433C>G	c.(2431-2433)ccC>ccG	p.P811P	SPTBN1_ENST00000333896.5_Silent_p.P798P	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	811					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.P798P(1)|p.P811P(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GCGCCCTCCCCCAGGAGCATG	0.627																																						uc002rxu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(2431-2433)CCC>CCG		spectrin, beta, non-erythrocytic 1 isoform 1							62.0	62.0	62.0					2																	54856704		2203	4300	6503	SO:0001819	synonymous_variant	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54856704C>G		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2433C>G	2.37:g.54856704C>G						SPTBN1_uc002rxv.1_Silent_p.P811P|SPTBN1_uc002rxx.2_Silent_p.P798P	p.P811P	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		14	2682	+			811			Spectrin 5.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.2433C>G	CCDS33198.1																																																																																				PASS	0.627	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			24	179	24	179	---	---	---	---
COMMD1	150684	broad.mit.edu	37	2	62228006	62228006	+	Silent	SNP	C	C	T	rs150966526		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:62228006C>T	ENST00000311832.5	+	2	383	c.351C>T	c.(349-351)agC>agT	p.S117S	COMMD1_ENST00000472729.1_3'UTR|COMMD1_ENST00000538736.1_Silent_p.S117S	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1	117					copper ion homeostasis (GO:0055070)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of protein ubiquitination (GO:0031398)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.S117S(1)		large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			GCTGGAATAGCGGGCTTCGGG	0.507													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17710	0.0		0.0	False		,,,				2504	0.0					uc002sbp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(349-351)AGC>AGT		MURR1		C		0,4406		0,0,2203	62.0	66.0	65.0		351	-1.7	0.1	2	dbSNP_134	65	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	COMMD1	NM_152516.2		0,5,6498	TT,TC,CC		0.0581,0.0,0.0384		117/191	62228006	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	150684				copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity	g.chr2:62228006C>T	BC022046	CCDS1869.1	2p15	2004-03-02	2004-02-13	2004-02-18	ENSG00000173163	ENSG00000173163			23024	protein-coding gene	gene with protein product	"""copper metabolism gene MURR1"""	607238	"""chromosome 2 open reading frame 5 (MURR1)"""	C2orf5		9001233, 11809725	Standard	NM_152516		Approved	MURR1, MGC27155	uc002sbp.3	Q8N668	OTTHUMG00000129445	ENST00000311832.5:c.351C>T	2.37:g.62228006C>T						COMMD1_uc002sbq.1_RNA	p.S117S	NM_152516	NP_689729	Q8N668	COMD1_HUMAN	LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)		2	362	+	Lung NSC(7;0.035)|all_lung(7;0.0691)		117					B4DFQ4|Q96GS0	Silent	SNP	ENST00000311832.5	37	c.351C>T	CCDS1869.1																																																																																				PASS	0.507	COMMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251607.2	NM_152516		4	128	4	128	---	---	---	---
TET3	200424	broad.mit.edu	37	2	74328283	74328283	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:74328283G>C	ENST00000409262.3	+	9	3963	c.3963G>C	c.(3961-3963)tgG>tgC	p.W1321C		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1321					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)	p.W598C(1)|p.W1321C(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTGGCAGCTGGGGTGTGTTCT	0.607																																						uc002skb.3																			2	Substitution - Missense(2)		lung(2)		0						c.(3961-3963)TGG>TGC		tet oncogene family member 3							39.0	48.0	45.0					2																	74328283		2043	4186	6229	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74328283G>C		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.3963G>C	2.37:g.74328283G>C	ENSP00000386869:p.Trp1321Cys						p.W1321C	NM_144993	NP_659430	O43151	TET3_HUMAN			9	3963	+			1321					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.3963G>C	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	G	1.562	-0.536344	0.04082	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.12361	2.69	4.78	4.78	0.61160	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.301734	0.35124	N	0.003439	T	0.14098	0.0341	L	0.44542	1.39	0.58432	D	0.999999	B	0.21905	0.062	B	0.27796	0.083	T	0.03773	-1.1005	10	0.35671	T	0.21	.	12.9011	0.58125	0.0:0.164:0.836:0.0	.	1321	O43151	TET3_HUMAN	C	1321	ENSP00000386869:W1321C	ENSP00000233310:W1321C	W	+	3	0	TET3	74181791	1.000000	0.71417	0.995000	0.50966	0.495000	0.33615	2.368000	0.44222	2.639000	0.89480	0.655000	0.94253	TGG		PASS	0.607	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			14	76	14	76	---	---	---	---
RTKN	6242	broad.mit.edu	37	2	74659630	74659630	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:74659630C>A	ENST00000233330.6	-	2	442	c.125G>T	c.(124-126)cGc>cTc	p.R42L	RTKN_ENST00000484453.1_5'Flank|RTKN_ENST00000272430.5_Missense_Mutation_p.R92L|RTKN_ENST00000305557.5_Missense_Mutation_p.R79L	NM_001015056.1	NP_001015056.1			rhotekin									p.R92L(1)|p.R79L(1)		endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						CGCCTCCTTGCGCCGCTGCAG	0.672																																						uc002sle.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(274-276)CGC>CTC		rhotekin isoform a							69.0	71.0	71.0					2																	74659630		2203	4300	6503	SO:0001583	missense	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74659630C>A	AF049227	CCDS1941.1, CCDS33226.1, CCDS42699.1	2p13.1	2013-01-10			ENSG00000114993	ENSG00000114993		"""Pleckstrin homology (PH) domain containing"""	10466	protein-coding gene	gene with protein product		602288				9073523, 10940294	Standard	XM_005264478		Approved	B5	uc002sle.3	Q9BST9	OTTHUMG00000129955	ENST00000233330.6:c.125G>T	2.37:g.74659630C>A	ENSP00000233330:p.Arg42Leu					RTKN_uc002slc.2_Missense_Mutation_p.R79L|RTKN_uc002sld.2_Missense_Mutation_p.R42L|RTKN_uc010ffe.1_Missense_Mutation_p.R92L|RTKN_uc010fff.1_Missense_Mutation_p.R79L|RTKN_uc010ffg.1_Missense_Mutation_p.R92L	p.R92L	NM_001015055	NP_001015055	Q9BST9	RTKN_HUMAN			2	392	-			92			REM.			Missense_Mutation	SNP	ENST00000233330.6	37	c.275G>T	CCDS42699.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402755	0.42613	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.30981	2.88;1.51;1.51	4.72	4.72	0.59763	.	0.173398	0.47852	D	0.000201	T	0.18467	0.0443	N	0.20483	0.58	0.37221	D	0.905252	B;B;B	0.25667	0.131;0.042;0.034	B;B;B	0.26614	0.042;0.071;0.042	T	0.05370	-1.0889	10	0.02654	T	1	.	15.2231	0.73330	0.0:1.0:0.0:0.0	.	96;92;79	Q9BST9-3;Q9BST9;Q9BST9-2	.;RTKN_HUMAN;.	L	79;92;42	ENSP00000305298:R79L;ENSP00000272430:R92L;ENSP00000233330:R42L	ENSP00000233330:R42L	R	-	2	0	RTKN	74513138	0.189000	0.23263	1.000000	0.80357	0.996000	0.88848	0.585000	0.23879	2.438000	0.82558	0.561000	0.74099	CGC		PASS	0.672	RTKN-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328236.3	NM_001015055		234	163	234	163	---	---	---	---
ACOXL	55289	broad.mit.edu	37	2	111551742	111551742	+	Silent	SNP	C	C	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:111551742C>G	ENST00000389811.4	+	5	560	c.336C>G	c.(334-336)ctC>ctG	p.L112L	ACOXL_ENST00000340561.4_Silent_p.L112L|ACOXL_ENST00000439055.1_Silent_p.L112L			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	112					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)	p.L112L(3)		kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CCTTTGACCTCTCTGCCCAGG	0.552																																						uc002tgr.3																			3	Substitution - coding silent(3)		lung(2)|large_intestine(1)		0						c.(334-336)CTC>CTG		acyl-Coenzyme A oxidase-like 2							77.0	85.0	82.0					2																	111551742		1963	4147	6110	SO:0001819	synonymous_variant	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111551742C>G		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.336C>G	2.37:g.111551742C>G						ACOXL_uc010fkc.2_Silent_p.L112L|ACOXL_uc010yxk.1_Silent_p.L112L	p.L112L	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN			5	560	+			112					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Silent	SNP	ENST00000389811.4	37	c.336C>G																																																																																					PASS	0.552	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		23	48	23	48	---	---	---	---
EPB41L5	57669	broad.mit.edu	37	2	120889260	120889260	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:120889260G>T	ENST00000263713.5	+	18	1782	c.1568G>T	c.(1567-1569)cGa>cTa	p.R523L	EPB41L5_ENST00000443902.2_Missense_Mutation_p.R523L|EPB41L5_ENST00000452780.1_Missense_Mutation_p.R523L	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	523					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)		p.R523L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						CTGTCCCCTCGATCCAACATC	0.408																																						uc002tmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1567-1569)CGA>CTA		erythrocyte membrane protein band 4.1 like 5							93.0	90.0	91.0					2																	120889260		2203	4300	6503	SO:0001583	missense	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120889260G>T	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.1568G>T	2.37:g.120889260G>T	ENSP00000263713:p.Arg523Leu					EPB41L5_uc010fll.2_Missense_Mutation_p.R523L|EPB41L5_uc010flm.2_Missense_Mutation_p.R327L	p.R523L	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN			18	1694	+			523					Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.1568G>T	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476723	0.26511	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000452780	D;D;D	0.82344	-1.58;-1.6;-1.58	5.35	-3.36	0.04913	.	0.808464	0.10765	N	0.636654	T	0.76399	0.3982	M	0.62723	1.935	0.09310	N	1	B;B;B	0.25048	0.102;0.117;0.072	B;B;B	0.27796	0.083;0.066;0.018	T	0.63567	-0.6608	10	0.37606	T	0.19	.	7.0511	0.25073	0.6315:0.1411:0.2275:0.0	.	523;523;523	Q9HCM4-3;Q9HCM4-4;Q9HCM4	.;.;E41L5_HUMAN	L	523	ENSP00000263713:R523L;ENSP00000393856:R523L;ENSP00000390439:R523L	ENSP00000263713:R523L	R	+	2	0	EPB41L5	120605730	0.000000	0.05858	0.000000	0.03702	0.975000	0.68041	-0.556000	0.05992	-0.480000	0.06803	0.644000	0.83932	CGA		PASS	0.408	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		20	19	20	19	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125261961	125261961	+	Silent	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:125261961C>A	ENST00000431078.1	+	8	1516	c.1152C>A	c.(1150-1152)ccC>ccA	p.P384P		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	384	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.P384P(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCGGCACCCCCCAAATTGATG	0.537																																						uc002tno.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)	10						c.(1150-1152)CCC>CCA		contactin associated protein-like 5 precursor							72.0	68.0	70.0					2																	125261961		1867	4114	5981	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125261961C>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1152C>A	2.37:g.125261961C>A						CNTNAP5_uc010flu.2_Silent_p.P385P	p.P384P	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	8	1516	+			384			Laminin G-like 2.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.1152C>A	CCDS46401.1																																																																																				PASS	0.537	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			35	26	35	26	---	---	---	---
GYPC	2995	broad.mit.edu	37	2	127451481	127451481	+	Missense_Mutation	SNP	G	G	C	rs114199197		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:127451481G>C	ENST00000259254.4	+	3	479	c.148G>C	c.(148-150)Gag>Cag	p.E50Q	GYPC_ENST00000464053.1_3'UTR|GYPC_ENST00000356887.7_Missense_Mutation_p.E29Q|GYPC_ENST00000409836.3_Missense_Mutation_p.E31Q	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)	50						cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E50Q(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		TGGCAGAATGGAGACCTCCAC	0.547																																					Melanoma(110;806 1600 6704 9981 33404)	uc002tnq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(148-150)GAG>CAG		glycophorin C isoform 1							157.0	133.0	141.0					2																	127451481		2203	4300	6503	SO:0001583	missense	2995					cortical cytoskeleton|integral to plasma membrane	protein binding	g.chr2:127451481G>C		CCDS2136.1, CCDS46402.1, CCDS58724.1	2q14-q21	2014-07-19			ENSG00000136732	ENSG00000136732		"""CD molecules"", ""Blood group antigens"""	4704	protein-coding gene	gene with protein product		110750					Standard	NM_016815		Approved	GPC, GYPD, Ge, CD236, CD236R	uc002tnq.4	P04921	OTTHUMG00000131464	ENST00000259254.4:c.148G>C	2.37:g.127451481G>C	ENSP00000259254:p.Glu50Gln					GYPC_uc002tnr.2_Missense_Mutation_p.E31Q|GYPC_uc010flv.2_RNA	p.E50Q	NM_002101	NP_002092	P04921	GLPC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.075)	3	304	+	Colorectal(110;0.0533)		50			Extracellular.		B2R522|Q53SV9|Q92642	Missense_Mutation	SNP	ENST00000259254.4	37	c.148G>C	CCDS2136.1	.	.	.	.	.	.	.	.	.	.	g	0.731	-0.780012	0.02929	.	.	ENSG00000136732	ENST00000259254;ENST00000356887;ENST00000409836	T;T;T	0.18960	2.66;2.18;2.71	.	.	.	.	.	.	.	.	T	0.10121	0.0248	N	0.14661	0.345	0.09310	N	1	B;B	0.27625	0.183;0.137	B;B	0.19666	0.026;0.009	T	0.28138	-1.0053	7	0.39692	T	0.17	.	.	.	.	.	29;50	P04921-2;P04921	.;GLPC_HUMAN	Q	50;29;31	ENSP00000259254:E50Q;ENSP00000349354:E29Q;ENSP00000386904:E31Q	ENSP00000259254:E50Q	E	+	1	0	GYPC	127167951	0.008000	0.16893	0.004000	0.12327	0.003000	0.03518	0.000000	0.12993	0.088000	0.17205	0.089000	0.15464	GAG		PASS	0.547	GYPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254297.1	NM_002101		17	62	17	62	---	---	---	---
IWS1	55677	broad.mit.edu	37	2	128281368	128281368	+	Splice_Site	SNP	C	C	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:128281368C>G	ENST00000295321.4	-	2	294		c.e2-1		IWS1_ENST00000455721.2_Splice_Site|IWS1_ENST00000486662.1_Intron	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)						mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.?(1)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CCACCATCATCTGATTAAAAA	0.408																																						uc002ton.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e2-1		IWS1 homolog							158.0	143.0	149.0					2																	128281368		2203	4300	6503	SO:0001630	splice_region_variant	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128281368C>G	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.35-1G>C	2.37:g.128281368C>G						IWS1_uc010yzl.1_Splice_Site|IWS1_uc010fma.2_Intron	p.D12_splice	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	2	338	-	Colorectal(110;0.1)							Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Splice_Site	SNP	ENST00000295321.4	37	c.35_splice	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034059	0.75504	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721;ENST00000409725	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9798	0.86324	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IWS1	127997838	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.557000	0.60782	2.741000	0.93983	0.650000	0.86243	.		PASS	0.408	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969	Intron	7	149	7	149	---	---	---	---
CXCR4	7852	broad.mit.edu	37	2	136873055	136873055	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:136873055C>T	ENST00000241393.3	-	2	547	c.443G>A	c.(442-444)aGg>aAg	p.R148K	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000409817.1_Missense_Mutation_p.R152K	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	148					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)	p.R152K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	CAACAGCTTCCTTGGCCTCTG	0.547																																						uc002tuz.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)	3						c.(442-444)AGG>AAG		chemokine (C-X-C motif) receptor 4 isoform b	Framycetin(DB00452)						187.0	156.0	167.0					2																	136873055		2203	4300	6503	SO:0001583	missense	7852				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	g.chr2:136873055C>T	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.443G>A	2.37:g.136873055C>T	ENSP00000241393:p.Arg148Lys					CXCR4_uc002tuy.2_Missense_Mutation_p.R152K|CXCR4_uc010fnk.2_Missense_Mutation_p.R133K	p.R148K	NM_003467	NP_003458	P61073	CXCR4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.155)	2	538	-			148			Cytoplasmic.		B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	ENST00000241393.3	37	c.443G>A	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112637	0.94339	.	.	ENSG00000121966	ENST00000409817;ENST00000241393	T;T	0.39592	1.07;1.07	5.79	5.79	0.91817	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.65037	0.2653	M	0.72479	2.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.57452	-0.7809	10	0.24483	T	0.36	.	20.0371	0.97565	0.0:1.0:0.0:0.0	.	148;152	P61073;P61073-2	CXCR4_HUMAN;.	K	152;148	ENSP00000386884:R152K;ENSP00000241393:R148K	ENSP00000241393:R148K	R	-	2	0	CXCR4	136589525	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.818000	0.86416	2.734000	0.93682	0.655000	0.94253	AGG		PASS	0.547	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			41	141	41	141	---	---	---	---
SPOPL	339745	broad.mit.edu	37	2	139316613	139316613	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:139316613G>A	ENST00000280098.4	+	6	881	c.502G>A	c.(502-504)Gta>Ata	p.V168I		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	168					negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)		p.V168I(1)		breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		CCAAGATTCAGTAAACATATC	0.338																																						uc002tvh.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|breast(1)	3						c.(502-504)GTA>ATA		speckle-type POZ protein-like							75.0	80.0	78.0					2																	139316613		2203	4300	6503	SO:0001583	missense	339745					nucleus		g.chr2:139316613G>A		CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.502G>A	2.37:g.139316613G>A	ENSP00000280098:p.Val168Ile						p.V168I	NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0296)	6	902	+			168						Missense_Mutation	SNP	ENST00000280098.4	37	c.502G>A	CCDS33298.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956641	0.53293	.	.	ENSG00000144228	ENST00000280098	T	0.64260	-0.09	5.21	4.34	0.51931	TRAF-like (1);	0.054276	0.64402	N	0.000001	T	0.48607	0.1509	L	0.28649	0.875	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37798	-0.9690	9	.	.	.	-13.6159	13.9247	0.63955	0.0735:0.0:0.9265:0.0	.	168	Q6IQ16	SPOPL_HUMAN	I	168	ENSP00000280098:V168I	.	V	+	1	0	SPOPL	139033083	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.179000	0.58290	1.332000	0.45431	0.591000	0.81541	GTA		PASS	0.338	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			12	31	12	31	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	140990873	140990873	+	Missense_Mutation	SNP	A	A	T	rs543281261		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:140990873A>T	ENST00000389484.3	-	91	14653	c.13682T>A	c.(13681-13683)gTa>gAa	p.V4561E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4561					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.V4561E(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTGCATATACCGGATTGGA	0.323										TSP Lung(27;0.18)			A|||	1	0.000199681	0.0	0.0	5008	,	,		13663	0.0		0.0	False		,,,				2504	0.001				Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(13681-13683)GTA>GAA		low density lipoprotein-related protein 1B							79.0	76.0	77.0					2																	140990873		2201	4299	6500	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140990873A>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13682T>A	2.37:g.140990873A>T	ENSP00000374135:p.Val4561Glu	TSP Lung(27;0.18)					p.V4561E	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	91	14654	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4561			Endocytosis signal (Potential).|Cytoplasmic (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13682T>A	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.95|16.95	3.262208|3.262208	0.59431|0.59431	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	T|.	0.61040|.	0.14|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.090276|.	0.44097|.	U|.	0.000491|.	T|T	0.74268|0.74268	0.3694|0.3694	M|M	0.71206|0.71206	2.165|2.165	0.44469|0.44469	D|D	0.9974|0.9974	P|.	0.42123|.	0.771|.	B|.	0.40410|.	0.328|.	T|T	0.74231|0.74231	-0.3732|-0.3732	10|5	0.87932|.	D|.	0|.	.|.	15.9456|15.9456	0.79789|0.79789	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	4561|.	Q9NZR2|.	LRP1B_HUMAN|.	E|N	4561;4499|760	ENSP00000374135:V4561E|.	ENSP00000374135:V4561E|.	V|Y	-|-	2|1	0|0	LRP1B|LRP1B	140707343|140707343	1.000000|1.000000	0.71417|0.71417	0.238000|0.238000	0.24106|0.24106	0.935000|0.935000	0.57460|0.57460	8.962000|8.962000	0.93254|0.93254	2.167000|2.167000	0.68274|0.68274	0.477000|0.477000	0.44152|0.44152	GTA|TAT		PASS	0.323	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		9	11	9	11	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152373009	152373009	+	Silent	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:152373009G>A	ENST00000172853.10	-	129	17913	c.17766C>T	c.(17764-17766)taC>taT	p.Y5922Y	NEB_ENST00000603639.1_Silent_p.Y7623Y|NEB_ENST00000409198.1_Silent_p.Y5922Y|NEB_ENST00000427231.2_Silent_p.Y7623Y|NEB_ENST00000604864.1_Silent_p.Y7623Y|NEB_ENST00000397345.3_Silent_p.Y7623Y			P20929	NEBU_HUMAN	nebulin	5922					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.Y7623Y(1)|p.Y5922Y(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGCAGTGATGTACGTTGGTG	0.433																																						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.(17764-17766)TAC>TAT		nebulin isoform 3							279.0	253.0	262.0					2																	152373009		1973	4171	6144	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.chr2:152373009G>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.17766C>T	2.37:g.152373009G>A						NEB_uc002txr.2_Silent_p.Y2345Y|NEB_uc002txt.3_Silent_p.Y427Y	p.Y5922Y	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	129	17957	-			5922			Nebulin 162.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.17766C>T		.	.	.	.	.	.	.	.	.	.	G	8.688	0.906813	0.17833	.	.	ENSG00000183091	ENST00000434685	.	.	.	5.58	1.81	0.25067	.	.	.	.	.	T	0.58221	0.2107	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49854	-0.8895	4	.	.	.	.	9.6135	0.39676	0.4066:0.0:0.5934:0.0	.	.	.	.	I	246	.	.	T	-	2	0	NEB	152081255	0.994000	0.37717	0.632000	0.29296	0.897000	0.52465	0.408000	0.21065	0.052000	0.16007	0.557000	0.71058	ACA		PASS	0.433	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		12	23	12	23	---	---	---	---
BAZ2B	29994	broad.mit.edu	37	2	160289371	160289371	+	Silent	SNP	G	G	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:160289371G>C	ENST00000392783.2	-	9	2292	c.1797C>G	c.(1795-1797)ccC>ccG	p.P599P	BAZ2B_ENST00000392782.1_Silent_p.P597P|BAZ2B_ENST00000355831.2_Silent_p.P599P|BAZ2B_ENST00000343439.5_Silent_p.P597P	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	599	Asp/Glu-rich (acidic).				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.P599P(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTTTACTACTGGGAATGTCTG	0.378																																						uc002uao.2																			2	Substitution - coding silent(2)		lung(1)|kidney(1)	ovary(3)|skin(1)	4						c.(1795-1797)CCC>CCG		bromodomain adjacent to zinc finger domain, 2B							132.0	128.0	129.0					2																	160289371		1955	4171	6126	SO:0001819	synonymous_variant	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160289371G>C	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1797C>G	2.37:g.160289371G>C						BAZ2B_uc002uap.2_Silent_p.P597P|BAZ2B_uc002uas.1_Silent_p.P536P|BAZ2B_uc002uaq.1_Silent_p.P527P|BAZ2B_uc002uar.1_Silent_p.P172P	p.P599P	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			9	2149	-			599			Asp/Glu-rich (acidic).		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	ENST00000392783.2	37	c.1797C>G	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	G	8.008	0.756793	0.15846	.	.	ENSG00000123636	ENST00000441143	.	.	.	5.92	0.816	0.18768	.	.	.	.	.	T	0.51346	0.1669	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36432	-0.9748	4	.	.	.	-2.1038	5.4291	0.16444	0.4234:0.0:0.4509:0.1258	.	.	.	.	E	31	.	.	Q	-	1	0	BAZ2B	159997617	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	0.690000	0.25451	0.087000	0.17167	0.655000	0.94253	CAG		PASS	0.378	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			19	29	19	29	---	---	---	---
GRB14	2888	broad.mit.edu	37	2	165378553	165378553	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:165378553C>T	ENST00000263915.3	-	6	1291	c.753G>A	c.(751-753)tgG>tgA	p.W251*	GRB14_ENST00000543549.1_Nonsense_Mutation_p.W164*	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	251	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.W251*(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AAATTTTTTTCCAAGACTTCT	0.294																																						uc002ucl.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						c.(751-753)TGG>TGA		growth factor receptor-bound protein 14							43.0	48.0	46.0					2																	165378553		2199	4282	6481	SO:0001587	stop_gained	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165378553C>T		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.753G>A	2.37:g.165378553C>T	ENSP00000263915:p.Trp251*					GRB14_uc010zcv.1_Nonsense_Mutation_p.W164*|GRB14_uc002ucm.2_RNA	p.W251*	NM_004490	NP_004481	Q14449	GRB14_HUMAN			6	1294	-			251			PH.		B7Z7F9|Q7Z6I1	Nonsense_Mutation	SNP	ENST00000263915.3	37	c.753G>A	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	C	38	6.968534	0.97971	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3014	20.3668	0.98882	0.0:1.0:0.0:0.0	.	.	.	.	X	251;164;206	.	ENSP00000263915:W251X	W	-	3	0	GRB14	165086799	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.894000	0.99253	0.655000	0.94253	TGG		PASS	0.294	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			7	4	7	4	---	---	---	---
SCN9A	6335	broad.mit.edu	37	2	167133841	167133841	+	Silent	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:167133841G>T	ENST00000409435.1	-	15	2525	c.2526C>A	c.(2524-2526)gtC>gtA	p.V842V	SCN9A_ENST00000375387.4_Silent_p.V843V|SCN9A_ENST00000303354.6_Silent_p.V843V|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.V831V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	842					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.V831V(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCAACTTGAAGACTCGGAGCT	0.368																																						uc010fpl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(5)|skin(2)	13						c.(2491-2493)GTC>GTA		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						67.0	67.0	67.0					2																	167133841		2203	4300	6503	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167133841G>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2526C>A	2.37:g.167133841G>T						uc002udp.2_Intron	p.V831V	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			16	2834	-			842			II.|Helical; Voltage-sensor; Name=S4 of repeat II; (Potential).		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.2493C>A	CCDS46441.1																																																																																				PASS	0.368	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		12	32	12	32	---	---	---	---
HOXD12	3238	broad.mit.edu	37	2	176964762	176964762	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:176964762C>T	ENST00000406506.2	+	1	305	c.233C>T	c.(232-234)gCt>gTt	p.A78V	HOXD12_ENST00000404162.2_Missense_Mutation_p.A78V			P35452	HXD12_HUMAN	homeobox D12	78					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)	p.A78V(1)		central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCCTACCTGGCTGGCTCCGGG	0.751																																						uc010zev.1																			1	Substitution - Missense(1)		lung(1)		0						c.(232-234)GCT>GTT		homeobox D12							3.0	4.0	4.0					2																	176964762		1567	3634	5201	SO:0001583	missense	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176964762C>T		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"""Homeoboxes / ANTP class : HOXL subclass"""	5135	protein-coding gene	gene with protein product		142988	"""homeo box D12"""	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.233C>T	2.37:g.176964762C>T	ENSP00000385586:p.Ala78Val					HOXD12_uc010zew.1_Missense_Mutation_p.A78V	p.A78V	NM_021193	NP_067016	P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	1	233	+			78					B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Missense_Mutation	SNP	ENST00000406506.2	37	c.233C>T	CCDS46456.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490058	0.44249	.	.	ENSG00000170178	ENST00000406506;ENST00000404162	T;T	0.35236	1.32;1.32	5.39	5.39	0.77823	.	0.388317	0.29551	N	0.011831	T	0.31167	0.0788	L	0.44542	1.39	0.28010	N	0.934936	P;B	0.43287	0.802;0.055	B;B	0.36464	0.225;0.033	T	0.36744	-0.9735	10	0.59425	D	0.04	.	14.6555	0.68831	0.0:1.0:0.0:0.0	.	78;78	B5MCD3;P35452	.;HXD12_HUMAN	V	78	ENSP00000385586:A78V;ENSP00000385132:A78V	ENSP00000385132:A78V	A	+	2	0	HOXD12	176673008	0.993000	0.37304	0.985000	0.45067	0.267000	0.26476	4.836000	0.62789	2.528000	0.85240	0.655000	0.94253	GCT		PASS	0.751	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		4	1	4	1	---	---	---	---
PDE11A	50940	broad.mit.edu	37	2	178879150	178879150	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:178879150C>G	ENST00000286063.6	-	2	1267	c.950G>C	c.(949-951)gGa>gCa	p.G317A	PDE11A_ENST00000358450.4_Missense_Mutation_p.G67A|AC011998.1_ENST00000457053.1_RNA	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	317	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.G67A(1)|p.G317A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TGTCTTGTATCCAGTTAGCTT	0.408									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulq.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)	4						c.(949-951)GGA>GCA		phosphodiesterase 11A isoform 4							139.0	126.0	130.0					2																	178879150		2202	4300	6502	SO:0001583	missense	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178879150C>G	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.950G>C	2.37:g.178879150C>G	ENSP00000286063:p.Gly317Ala					PDE11A_uc002ulr.2_Missense_Mutation_p.G67A|PDE11A_uc002ult.1_Missense_Mutation_p.G67A	p.G317A	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		2	1268	-			317			GAF 1.		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.950G>C	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065645	0.93898	.	.	ENSG00000128655	ENST00000286063;ENST00000358450	T;T	0.68765	-0.35;-0.35	5.38	5.38	0.77491	GAF (2);	0.000000	0.85682	D	0.000000	D	0.89469	0.6724	H	0.98542	4.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93294	0.6671	10	0.87932	D	0	.	18.4674	0.90761	0.0:1.0:0.0:0.0	.	67;317	Q9HCR9-2;Q9HCR9	.;PDE11_HUMAN	A	317;67	ENSP00000286063:G317A;ENSP00000351232:G67A	ENSP00000286063:G317A	G	-	2	0	PDE11A	178587396	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.776000	0.85560	2.678000	0.91216	0.591000	0.81541	GGA		PASS	0.408	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			20	9	20	9	---	---	---	---
PLEKHA3	65977	broad.mit.edu	37	2	179365792	179365792	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:179365792A>T	ENST00000234453.5	+	7	1066	c.664A>T	c.(664-666)Agc>Tgc	p.S222C		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	222						Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)	p.S222C(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			TTGCAGGAGTAGCCACTCTAT	0.363																																						uc002umn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(664-666)AGC>TGC		pleckstrin homology domain containing, family A							77.0	84.0	82.0					2																	179365792		2203	4300	6503	SO:0001583	missense	65977					cytoplasm|membrane		g.chr2:179365792A>T	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.664A>T	2.37:g.179365792A>T	ENSP00000234453:p.Ser222Cys						p.S222C	NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)		7	1062	+			222					Q4ZG69|Q86TQ1|Q9NXT3	Missense_Mutation	SNP	ENST00000234453.5	37	c.664A>T	CCDS33336.1	.	.	.	.	.	.	.	.	.	.	A	14.07	2.425608	0.43020	.	.	ENSG00000116095	ENST00000234453;ENST00000421187	T	0.13420	2.59	5.77	4.6	0.57074	.	0.184440	0.47455	N	0.000232	T	0.12050	0.0293	N	0.19112	0.55	0.34291	D	0.68327	D	0.56287	0.975	P	0.49708	0.62	T	0.23440	-1.0188	10	0.40728	T	0.16	-19.5445	7.4016	0.26967	0.8019:0.0:0.0691:0.129	.	222	Q9HB20	PKHA3_HUMAN	C	222;31	ENSP00000234453:S222C	ENSP00000234453:S222C	S	+	1	0	PLEKHA3	179074038	0.998000	0.40836	0.974000	0.42286	0.047000	0.14425	3.181000	0.50903	0.984000	0.38629	-0.344000	0.07964	AGC		PASS	0.363	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091		14	27	14	27	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179594842	179594842	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:179594842G>T	ENST00000591111.1	-	60	17558	c.17334C>A	c.(17332-17334)agC>agA	p.S5778R	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S6095R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S4851R			Q8WZ42	TITIN_HUMAN	titin	12579	Ig-like 38.				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.S4851R(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)			GAGTGGCTTTGCTGGTTGCTG	0.502																																						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.(14551-14553)AGC>AGA		titin isoform N2-A							56.0	52.0	53.0					2																	179594842		1937	4140	6077	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594842G>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.17334C>A	2.37:g.179594842G>T	ENSP00000465570:p.Ser5778Arg					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S1512R	p.S4851R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		59	14777	-			5778					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.14553C>A		.	.	.	.	.	.	.	.	.	.	A	8.693	0.907879	0.17833	.	.	ENSG00000155657	ENST00000342992	T	0.68181	-0.31	5.59	-3.34	0.04943	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63628	0.2527	M	0.69523	2.12	0.80722	D	1	B	0.27192	0.171	B	0.33295	0.161	T	0.58875	-0.7559	9	0.87932	D	0	.	10.5182	0.44903	0.3744:0.1097:0.5159:0.0	.	5778	Q8WZ42	TITIN_HUMAN	R	4851	ENSP00000343764:S4851R	ENSP00000343764:S4851R	S	-	3	2	TTN	179303087	0.988000	0.35896	0.969000	0.41365	0.577000	0.36160	0.302000	0.19192	-0.681000	0.05204	-0.972000	0.02603	AGC		PASS	0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	20	6	20	---	---	---	---
AOX1	316	broad.mit.edu	37	2	201531423	201531423	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:201531423A>G	ENST00000374700.2	+	32	3798	c.3557A>G	c.(3556-3558)gAc>gGc	p.D1186G	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1186					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.D1186G(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ATCAGAACAGACATTGTCATG	0.373																																						uc002uvx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(3556-3558)GAC>GGC		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						98.0	92.0	94.0					2																	201531423		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201531423A>G	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3557A>G	2.37:g.201531423A>G	ENSP00000363832:p.Asp1186Gly					AOX1_uc010zhf.1_Missense_Mutation_p.D742G|AOX1_uc010fsu.2_Missense_Mutation_p.D552G	p.D1186G	NM_001159	NP_001150	Q06278	ADO_HUMAN			32	3658	+			1186					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.3557A>G	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	A	18.81	3.702545	0.68501	.	.	ENSG00000138356	ENST00000374700;ENST00000260930;ENST00000439380	T;T;T	0.40756	1.02;1.02;1.02	5.09	5.09	0.68999	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.046191	0.85682	D	0.000000	T	0.78685	0.4322	H	0.98833	4.345	0.54753	D	0.999986	D	0.63880	0.993	D	0.77004	0.989	D	0.87560	0.2471	10	0.87932	D	0	-66.3394	15.3271	0.74172	1.0:0.0:0.0:0.0	.	1186	Q06278	ADO_HUMAN	G	1186;72;26	ENSP00000363832:D1186G;ENSP00000260930:D72G;ENSP00000413326:D26G	ENSP00000260930:D72G	D	+	2	0	AOX1	201239668	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.565000	0.53798	2.267000	0.75376	0.383000	0.25322	GAC		PASS	0.373	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		9	29	9	29	---	---	---	---
TTLL4	9654	broad.mit.edu	37	2	219603360	219603360	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:219603360C>G	ENST00000392102.1	+	3	1301	c.961C>G	c.(961-963)Ctg>Gtg	p.L321V	TTLL4_ENST00000457313.1_Missense_Mutation_p.L156V|TTLL4_ENST00000258398.4_Missense_Mutation_p.L321V|TTLL4_ENST00000442769.1_Missense_Mutation_p.L321V	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	321					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)	p.L321V(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TTCCTGTGCTCTGGATGACAG	0.532																																					GBM(172;1818 2053 15407 20943 49753)	uc002viy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(961-963)CTG>GTG		tubulin tyrosine ligase-like family, member 4							111.0	106.0	108.0					2																	219603360		2203	4300	6503	SO:0001583	missense	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219603360C>G		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.961C>G	2.37:g.219603360C>G	ENSP00000375951:p.Leu321Val					TTLL4_uc010zkl.1_Missense_Mutation_p.L156V|TTLL4_uc010fvx.2_Missense_Mutation_p.L321V	p.L321V	NM_014640	NP_055455	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	3	1331	+		Renal(207;0.0915)	321					A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.961C>G	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	C	7.400	0.632579	0.14322	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.11495	3.18;3.37;2.77;3.37	4.53	2.56	0.30785	.	0.424496	0.17489	N	0.172415	T	0.13713	0.0332	L	0.34521	1.04	0.09310	N	1	D;D;D	0.61080	0.989;0.989;0.978	P;P;P	0.57679	0.775;0.825;0.714	T	0.07328	-1.0778	10	0.51188	T	0.08	.	4.5994	0.12345	0.0:0.6649:0.0:0.3351	.	156;321;321	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	V	156;321;321;321	ENSP00000393332:L156V;ENSP00000375951:L321V;ENSP00000396555:L321V;ENSP00000258398:L321V	ENSP00000258398:L321V	L	+	1	2	TTLL4	219311604	0.200000	0.23398	0.650000	0.29550	0.004000	0.04260	0.453000	0.21811	1.138000	0.42230	-0.251000	0.11542	CTG		PASS	0.532	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		3	175	3	175	---	---	---	---
INHA	3623	broad.mit.edu	37	2	220439984	220439984	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:220439984G>T	ENST00000243786.2	+	2	1017	c.837G>T	c.(835-837)tgG>tgT	p.W279C		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	279					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.W279C(1)		large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGGAACGGTGGATCGTGTACC	0.607																																						uc002vmk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(835-837)TGG>TGT		inhibin alpha subunit precursor							151.0	150.0	150.0					2																	220439984		2203	4300	6503	SO:0001583	missense	3623				cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity	g.chr2:220439984G>T		CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.837G>T	2.37:g.220439984G>T	ENSP00000243786:p.Trp279Cys						p.W279C	NM_002191	NP_002182	P05111	INHA_HUMAN		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	2	981	+		Renal(207;0.0183)	279					A8K8H5	Missense_Mutation	SNP	ENST00000243786.2	37	c.837G>T	CCDS2444.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999087	0.74818	.	.	ENSG00000123999	ENST00000243786	D	0.93076	-3.16	5.48	5.48	0.80851	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.97826	0.9286	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98705	1.0702	9	.	.	.	-16.7962	19.3612	0.94438	0.0:0.0:1.0:0.0	.	279	P05111	INHA_HUMAN	C	279	ENSP00000243786:W279C	.	W	+	3	0	INHA	220148228	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.772000	0.91757	2.564000	0.86499	0.561000	0.74099	TGG		PASS	0.607	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131425.1			72	59	72	59	---	---	---	---
GPC1	2817	broad.mit.edu	37	2	241398478	241398478	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:241398478C>A	ENST00000264039.2	+	2	446	c.198C>A	c.(196-198)taC>taA	p.Y66*	AC110619.2_ENST00000404327.3_5'Flank|AC110619.2_ENST00000404891.1_5'Flank|MIR149_ENST00000384879.1_RNA	NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	66					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|myelin assembly (GO:0032288)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|phototransduction, visible light (GO:0007603)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|retinoid metabolic process (GO:0001523)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|laminin binding (GO:0043236)	p.Y66*(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CCCAGGGCTACACCTGCTGCA	0.682																																						uc002vyw.3																			1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(196-198)TAC>TAA		glypican 1 precursor							48.0	42.0	44.0					2																	241398478		2203	4299	6502	SO:0001587	stop_gained	2817				axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr2:241398478C>A	AK095397	CCDS2534.1	2q35-q37	2008-02-05			ENSG00000063660	ENSG00000063660		"""Proteoglycans / Cell Surface : Glypicans"""	4449	protein-coding gene	gene with protein product	"""glypican proteoglycan 1"""	600395				7774946	Standard	NM_002081		Approved	glypican	uc002vyw.4	P35052	OTTHUMG00000133349	ENST00000264039.2:c.198C>A	2.37:g.241398478C>A	ENSP00000264039:p.Tyr66*					PP14571_uc002vyy.1_5'Flank	p.Y66*	NM_002081	NP_002072	P35052	GPC1_HUMAN		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)	2	419	+		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	66					B3KTD1|Q53QM4	Nonsense_Mutation	SNP	ENST00000264039.2	37	c.198C>A	CCDS2534.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	29.4|29.4|29.4	5.004964|5.004964|5.004964	0.93287|0.93287|0.93287	.|.|.	.|.|.	ENSG00000063660|ENSG00000063660|ENSG00000063660	ENST00000420138|ENST00000427506;ENST00000425056|ENST00000264039;ENST00000426280	.|.|.	.|.|.	.|.|.	3.31|3.31|3.31	2.42|2.42|2.42	0.29668|0.29668|0.29668	.|.|.	.|.|0.139879	.|.|0.49916	.|.|D	.|.|0.000130	T|T|.	0.21590|0.21590|.	0.0520|0.0520|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.34800|0.34800|.	-0.9814|-0.9814|.	3|3|.	.|.|0.02654	.|.|T	.|.|1	-35.3089|-35.3089|-35.3089	8.6016|8.6016|8.6016	0.33747|0.33747|0.33747	0.0:0.8786:0.0:0.1214|0.0:0.8786:0.0:0.1214|0.0:0.8786:0.0:0.1214	.|.|.	.|.|.	.|.|.	.|.|.	N|K|X	106|23;62|66;16	.|.|.	.|.|ENSP00000264039:Y66X	H|T|Y	+|+|+	1|2|3	0|0|2	GPC1|GPC1|GPC1	241047151|241047151|241047151	0.016000|0.016000|0.016000	0.18221|0.18221|0.18221	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.990000|0.990000|0.990000	0.78478|0.78478|0.78478	0.274000|0.274000|0.274000	0.18680|0.18680|0.18680	0.739000|0.739000|0.739000	0.32628|0.32628|0.32628	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	CAC|ACA|TAC		PASS	0.682	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257179.3	NM_002081		3	40	3	40	---	---	---	---
BRPF1	7862	broad.mit.edu	37	3	9781412	9781412	+	Silent	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:9781412C>T	ENST00000457855.1	+	2	1340	c.1329C>T	c.(1327-1329)taC>taT	p.Y443Y	BRPF1_ENST00000302054.3_Silent_p.Y443Y|BRPF1_ENST00000424362.1_Silent_p.Y443Y|BRPF1_ENST00000383829.2_Silent_p.Y443Y|BRPF1_ENST00000433861.2_Silent_p.Y443Y			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	443					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Y443Y(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AGACAGCCTACTGCGACATCC	0.607																																						uc003bse.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1327-1329)TAC>TAT		bromodomain and PHD finger-containing protein 1							58.0	53.0	55.0					3																	9781412		2203	4300	6503	SO:0001819	synonymous_variant	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9781412C>T	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1329C>T	3.37:g.9781412C>T						BRPF1_uc003bsf.2_Silent_p.Y443Y|BRPF1_uc003bsg.2_Silent_p.Y443Y|BRPF1_uc011ati.1_Silent_p.Y443Y	p.Y443Y	NM_004634	NP_004625	P55201	BRPF1_HUMAN			3	1728	+	Medulloblastoma(99;0.227)		443					B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Silent	SNP	ENST00000457855.1	37	c.1329C>T	CCDS2575.1																																																																																				PASS	0.607	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		12	7	12	7	---	---	---	---
ATP2B2	491	broad.mit.edu	37	3	10417275	10417275	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:10417275C>T	ENST00000352432.4	-	10	1324	c.1255G>A	c.(1255-1257)Gac>Aac	p.D419N	ATP2B2_ENST00000343816.4_Missense_Mutation_p.D405N|ATP2B2_ENST00000397077.1_Missense_Mutation_p.D374N|ATP2B2_ENST00000360273.2_Missense_Mutation_p.D419N|ATP2B2_ENST00000383800.4_Missense_Mutation_p.D374N			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	419					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.D374N(1)|p.D419N(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACGAAGGTGTCCACAGTGAAG	0.557																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1255-1257)GAC>AAC		plasma membrane calcium ATPase 2 isoform 1							79.0	65.0	70.0					3																	10417275		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10417275C>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1255G>A	3.37:g.10417275C>T	ENSP00000324172:p.Asp419Asn					ATP2B2_uc003bvv.2_Missense_Mutation_p.D374N|ATP2B2_uc003bvw.2_Missense_Mutation_p.D374N|ATP2B2_uc010hdo.2_Missense_Mutation_p.D124N	p.D419N	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			11	1694	-			419			Extracellular (Potential).		O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.1255G>A	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081665	0.76528	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	4.48	4.48	0.54585	ATPase, P-type, ATPase-associated domain (1);	0.097562	0.64402	D	0.000002	D	0.82323	0.5012	N	0.16307	0.4	0.80722	D	1	B;B;B	0.25169	0.119;0.001;0.002	B;B;B	0.29077	0.098;0.003;0.006	T	0.78947	-0.2003	10	0.35671	T	0.21	-31.0555	17.3813	0.87405	0.0:1.0:0.0:0.0	.	354;386;419	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	N	419;374;374;419;405;354;275;419	ENSP00000324172:D419N;ENSP00000373311:D374N;ENSP00000380267:D374N;ENSP00000353414:D419N;ENSP00000344677:D405N;ENSP00000414854:D275N	ENSP00000342954:D419N	D	-	1	0	ATP2B2	10392275	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.811000	0.62606	2.323000	0.78572	0.561000	0.74099	GAC		PASS	0.557	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		46	8	46	8	---	---	---	---
XPC	7508	broad.mit.edu	37	3	14200326	14200326	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:14200326C>A	ENST00000285021.7	-	9	1271	c.1057G>T	c.(1057-1059)Gtt>Ttt	p.V353F	XPC_ENST00000449060.2_Missense_Mutation_p.V316F	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	353					DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)	p.V353F(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTTCTAGAACTTGGCTGGAA	0.443			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc011ave.1			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	Mis|N|F|S	"""xeroderma pigmentosum, complementation group C"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1057-1059)GTT>TTT	NER	xeroderma pigmentosum, complementation group C							138.0	121.0	126.0					3																	14200326		1568	3582	5150	SO:0001583	missense	7508	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14200326C>A		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.1057G>T	3.37:g.14200326C>A	ENSP00000285021:p.Val353Phe					XPC_uc011avf.1_Missense_Mutation_p.V160F|XPC_uc011avg.1_Missense_Mutation_p.V316F	p.V353F	NM_004628	NP_004619	Q01831	XPC_HUMAN			9	1161	-			353					B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	c.1057G>T	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576163	0.65878	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.34859	1.34;1.34	5.62	-1.91	0.07641	.	2.263990	0.01519	N	0.018289	T	0.28101	0.0693	L	0.44542	1.39	0.09310	N	1	P;P	0.41265	0.744;0.744	B;B	0.33521	0.165;0.165	T	0.35375	-0.9791	10	0.48119	T	0.1	0.9608	6.9926	0.24763	0.0:0.2401:0.1294:0.6305	.	316;353	E9PH69;Q01831	.;XPC_HUMAN	F	353;316	ENSP00000285021:V353F;ENSP00000404002:V316F	ENSP00000285021:V353F	V	-	1	0	XPC	14175330	0.000000	0.05858	0.000000	0.03702	0.875000	0.50365	-0.339000	0.07832	-0.201000	0.10284	0.655000	0.94253	GTT		PASS	0.443	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		49	12	49	12	---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38081085	38081085	+	Silent	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:38081085C>T	ENST00000308059.6	+	1	390	c.369C>T	c.(367-369)agC>agT	p.S123S	DLEC1_ENST00000346219.3_Silent_p.S123S|DLEC1_ENST00000452631.2_Silent_p.S123S					deleted in lung and esophageal cancer 1									p.S123S(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCCGCGGCAGCGAGAATGAGC	0.642																																						uc003cho.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(367-369)AGC>AGT		deleted in lung and esophageal cancer 1 isoform							45.0	48.0	47.0					3																	38081085		2120	4233	6353	SO:0001819	synonymous_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38081085C>T	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.369C>T	3.37:g.38081085C>T						DLEC1_uc003chp.1_Silent_p.S123S|DLEC1_uc010hgv.1_Silent_p.S123S	p.S123S	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	1	390	+			123						Silent	SNP	ENST00000308059.6	37	c.369C>T	CCDS2672.2																																																																																				PASS	0.642	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		8	115	8	115	---	---	---	---
SLC22A13	9390	broad.mit.edu	37	3	38307523	38307523	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:38307523C>T	ENST00000311856.4	+	1	221	c.172C>T	c.(172-174)Cac>Tac	p.H58Y	SLC22A13_ENST00000450935.2_Missense_Mutation_p.H17Y	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	58					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)	p.H58Y(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GGTGAAGAACCACACTTTCAA	0.572																																						uc003chz.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(172-174)CAC>TAC		solute carrier family 22 (organic anion							129.0	106.0	114.0					3																	38307523		2203	4300	6503	SO:0001583	missense	9390					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38307523C>T	AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"""Solute carriers"""	8494	protein-coding gene	gene with protein product		604047	"""organic cationic transporter-like 3"", ""solute carrier family 22 (organic anion transporter), member 13"""	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.172C>T	3.37:g.38307523C>T	ENSP00000310241:p.His58Tyr					SLC22A13_uc011aym.1_RNA|SLC22A13_uc011ayn.1_Missense_Mutation_p.H58Y	p.H58Y	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)	1	226	+			58			Extracellular (Potential).		B2RCV9|Q8IYG1	Missense_Mutation	SNP	ENST00000311856.4	37	c.172C>T	CCDS2676.1	.	.	.	.	.	.	.	.	.	.	.	0.122	-1.124847	0.01770	.	.	ENSG00000172940	ENST00000311856;ENST00000450935	T;T	0.64618	-0.11;0.79	4.49	0.277	0.15668	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.089970	0.06962	N	0.816539	T	0.55369	0.1916	M	0.65975	2.015	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.40098	-0.9581	10	0.31617	T	0.26	.	4.1553	0.10258	0.2301:0.3189:0.3713:0.0796	.	58;58	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	Y	58;17	ENSP00000310241:H58Y;ENSP00000406929:H17Y	ENSP00000310241:H58Y	H	+	1	0	SLC22A13	38282527	0.000000	0.05858	0.164000	0.22755	0.977000	0.68977	0.132000	0.15891	0.070000	0.16634	0.563000	0.77884	CAC		PASS	0.572	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	NM_004256		40	14	40	14	---	---	---	---
TTC21A	199223	broad.mit.edu	37	3	39159565	39159565	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:39159565T>C	ENST00000431162.2	+	7	856	c.722T>C	c.(721-723)cTa>cCa	p.L241P	TTC21A_ENST00000301819.6_Missense_Mutation_p.L241P|TTC21A_ENST00000440121.1_Missense_Mutation_p.L200P			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	241								p.L241P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTCAGAATCCTAGAAAAAGAT	0.418																																						uc003cjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(721-723)CTA>CCA		tetratricopeptide repeat domain 21A isoform 2							133.0	139.0	137.0					3																	39159565		2101	4226	6327	SO:0001583	missense	199223						binding	g.chr3:39159565T>C	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.722T>C	3.37:g.39159565T>C	ENSP00000398211:p.Leu241Pro					TTC21A_uc003cja.2_Missense_Mutation_p.L241P|TTC21A_uc010hho.1_Missense_Mutation_p.L163P|TTC21A_uc003cjb.2_Silent_p.P107P|TTC21A_uc003cje.2_Missense_Mutation_p.L241P|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.L200P	p.L241P	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	7	899	+			241			TPR 5.		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.722T>C	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.141005	0.77775	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.59638	0.25;0.25;1.93	5.43	5.43	0.79202	Tetratricopeptide-like helical (1);	0.000000	0.56097	D	0.000040	T	0.77170	0.4091	M	0.84326	2.69	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.986;0.999;0.999;0.998;0.999	T	0.80989	-0.1136	10	0.87932	D	0	-6.9515	13.4454	0.61138	0.0:0.0:0.0:1.0	.	200;241;241;241;241	Q8NDW8-6;Q8NDW8-5;Q8NDW8-7;Q8NDW8;F5H6V8	.;.;.;TT21A_HUMAN;.	P	241;241;241;200	ENSP00000301819:L241P;ENSP00000398211:L241P;ENSP00000410882:L200P	ENSP00000301819:L241P	L	+	2	0	TTC21A	39134569	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	5.252000	0.65445	2.064000	0.61679	0.460000	0.39030	CTA		PASS	0.418	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		3	79	3	79	---	---	---	---
CCK	885	broad.mit.edu	37	3	42299721	42299721	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:42299721G>T	ENST00000396169.2	-	5	1122	c.217C>A	c.(217-219)Cct>Act	p.P73T	CCK_ENST00000334681.5_Missense_Mutation_p.P73T|CCK_ENST00000434608.1_Missense_Mutation_p.P73T	NM_000729.4	NP_000720.1	P06307	CCKN_HUMAN	cholecystokinin	73					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axonogenesis (GO:0007409)|behavioral fear response (GO:0001662)|eating behavior (GO:0042755)|negative regulation of appetite (GO:0032099)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein oligomerization (GO:0032461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|release of cytochrome c from mitochondria (GO:0001836)|signal transduction (GO:0007165)	axon (GO:0030424)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|terminal bouton (GO:0043195)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)	p.P73T(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		CGTCCAGAAGGAGCTACAAGG	0.502																																						uc003clc.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(217-219)CCT>ACT		cholecystokinin preproprotein							86.0	82.0	84.0					3																	42299721		2203	4300	6503	SO:0001583	missense	885				axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity	g.chr3:42299721G>T		CCDS2696.1	3p22.1	2013-02-25			ENSG00000187094	ENSG00000187094		"""Endogenous ligands"""	1569	protein-coding gene	gene with protein product	"""prepro-cholecystokinin"", ""cholecystokinin triacontatriapeptide"""	118440				3856870	Standard	NM_001174138		Approved		uc021wwk.1	P06307	OTTHUMG00000131796	ENST00000396169.2:c.217C>A	3.37:g.42299721G>T	ENSP00000379472:p.Pro73Thr					CCK_uc003cld.1_Missense_Mutation_p.P73T	p.P73T	NM_000729	NP_000720	P06307	CCKN_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.219)	3	426	-		Ovarian(412;0.0728)	73						Missense_Mutation	SNP	ENST00000396169.2	37	c.217C>A	CCDS2696.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666502	0.67814	.	.	ENSG00000187094	ENST00000396169;ENST00000334681;ENST00000434608	T;T;T	0.22743	1.94;1.94;1.94	5.74	4.68	0.58851	Gastrin/cholecystokinin peptide hormone (1);	0.363266	0.32769	N	0.005678	T	0.37517	0.1006	M	0.62723	1.935	0.43476	D	0.99569	D	0.71674	0.998	D	0.66716	0.946	T	0.02004	-1.1231	10	0.23891	T	0.37	-7.6549	11.1634	0.48528	0.1278:0.0:0.8722:0.0	.	73	P06307	CCKN_HUMAN	T	73	ENSP00000379472:P73T;ENSP00000335657:P73T;ENSP00000409124:P73T	ENSP00000335657:P73T	P	-	1	0	CCK	42274725	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	2.463000	0.45058	2.702000	0.92279	0.655000	0.94253	CCT		PASS	0.502	CCK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343380.1	NM_000729		37	8	37	8	---	---	---	---
KIF15	56992	broad.mit.edu	37	3	44816805	44816805	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:44816805G>C	ENST00000326047.4	+	3	271	c.122G>C	c.(121-123)gGg>gCg	p.G41A		NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	41	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)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.G41A(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAAAGATCTGGGTCAGCTGAT	0.443																																						uc003cnx.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(121-123)GGG>GCG		kinesin family member 15							157.0	137.0	144.0					3																	44816805		2203	4300	6503	SO:0001583	missense	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44816805G>C	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.122G>C	3.37:g.44816805G>C	ENSP00000324020:p.Gly41Ala					KIF15_uc010hiq.2_5'UTR	p.G41A	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	3	271	+			41			Kinesin-motor.		Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	c.122G>C	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016689	0.35606	.	.	ENSG00000163808	ENST00000326047;ENST00000396031	T	0.74315	-0.83	5.77	4.86	0.63082	Kinesin, motor domain (4);	0.596788	0.14353	N	0.324933	T	0.51550	0.1681	N	0.05177	-0.1	0.80722	D	1	B	0.02656	0.0	B	0.14578	0.011	T	0.44997	-0.9291	10	0.08381	T	0.77	.	12.7723	0.57427	0.0:0.1525:0.7372:0.1103	.	41	Q9NS87	KIF15_HUMAN	A	41;40	ENSP00000324020:G41A	ENSP00000324020:G41A	G	+	2	0	KIF15	44791809	0.714000	0.27936	0.031000	0.17742	0.962000	0.63368	1.432000	0.34936	2.885000	0.99019	0.655000	0.94253	GGG		PASS	0.443	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			7	119	7	119	---	---	---	---
WDR6	11180	broad.mit.edu	37	3	49051126	49051126	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:49051126G>C	ENST00000608424.1	+	2	2198	c.2159G>C	c.(2158-2160)gGa>gCa	p.G720A	WDR6_ENST00000415265.2_Missense_Mutation_p.G168A|WDR6_ENST00000395474.3_Missense_Mutation_p.G750A|WDR6_ENST00000448293.1_Missense_Mutation_p.G669A			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	720					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.G720A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CCTGAATATGGAGTGCCCAGC	0.577											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003cvj.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2248-2250)GGA>GCA		WD repeat domain 6 protein							78.0	69.0	72.0					3																	49051126		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49051126G>C	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.2159G>C	3.37:g.49051126G>C	ENSP00000477389:p.Gly720Ala		OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	959	WDR6_uc011bbx.1_3'UTR|WDR6_uc011bby.1_Missense_Mutation_p.G198A|WDR6_uc010hkn.2_Missense_Mutation_p.G694A|WDR6_uc011bbz.1_Missense_Mutation_p.G669A	p.G750A	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	2387	+			720					B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.2249G>C		.	.	.	.	.	.	.	.	.	.	G	5.442	0.266694	0.10294	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;T	0.59638	0.25;0.27	4.11	-1.76	0.08006	WD40 repeat-like-containing domain (1);	0.561931	0.16391	N	0.216463	T	0.37073	0.0990	N	0.22421	0.69	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.003	B;B;B	0.09377	0.004;0.004;0.004	T	0.18777	-1.0326	10	0.27082	T	0.32	-6.3161	10.19	0.43021	0.6799:0.0:0.3201:0.0	.	168;720;669	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	A	750;168;669	ENSP00000378857:G750A;ENSP00000413432:G669A	ENSP00000378857:G750A	G	+	2	0	WDR6	49026130	0.001000	0.12720	0.008000	0.14137	0.445000	0.32107	-0.009000	0.12765	-0.284000	0.09102	0.561000	0.74099	GGA		PASS	0.577	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			30	6	30	6	---	---	---	---
GPR128	84873	broad.mit.edu	37	3	100364825	100364825	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:100364825A>T	ENST00000273352.3	+	9	1251	c.983A>T	c.(982-984)aAt>aTt	p.N328I	SNORA31_ENST00000517180.1_RNA|GPR128_ENST00000475887.1_Missense_Mutation_p.N33I	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	328					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.N328I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GTTTATCAAAATGACAAGCTT	0.313																																					Pancreas(87;185 1975 7223 18722)	uc003duc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(982-984)AAT>ATT		G protein-coupled receptor 128 precursor							72.0	70.0	70.0					3																	100364825		2202	4300	6502	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100364825A>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.983A>T	3.37:g.100364825A>T	ENSP00000273352:p.Asn328Ile					GPR128_uc011bhc.1_Missense_Mutation_p.N29I	p.N328I	NM_032787	NP_116176	Q96K78	GP128_HUMAN			9	1251	+			328			Extracellular (Potential).		Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.983A>T	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.020632	0.75275	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.48201	0.82;1.15	5.19	5.19	0.71726	.	0.101202	0.42172	D	0.000744	T	0.63260	0.2496	M	0.72894	2.215	0.43919	D	0.996568	D;D	0.71674	0.981;0.998	P;P	0.60789	0.77;0.879	T	0.67082	-0.5760	10	0.62326	D	0.03	.	12.7305	0.57195	1.0:0.0:0.0:0.0	.	33;328	E9PHI0;Q96K78	.;GP128_HUMAN	I	328;33	ENSP00000273352:N328I;ENSP00000419788:N33I	ENSP00000273352:N328I	N	+	2	0	GPR128	101847515	1.000000	0.71417	0.976000	0.42696	0.972000	0.66771	5.692000	0.68256	2.077000	0.62373	0.533000	0.62120	AAT		PASS	0.313	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			11	53	11	53	---	---	---	---
CASR	846	broad.mit.edu	37	3	122003505	122003505	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:122003505C>G	ENST00000490131.1	+	7	3076	c.2704C>G	c.(2704-2706)Ctt>Gtt	p.L902V	CASR_ENST00000296154.5_Missense_Mutation_p.L902V|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Missense_Mutation_p.L912V	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	902					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.L902V(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GTCCAGCAGCCTTGGAGGCTC	0.662																																						uc003eev.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(2704-2706)CTT>GTT		calcium-sensing receptor precursor	Cinacalcet(DB01012)						32.0	33.0	33.0					3																	122003505		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003505C>G	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2704C>G	3.37:g.122003505C>G	ENSP00000418685:p.Leu902Val					CASR_uc003eew.3_Missense_Mutation_p.L912V	p.L902V	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	3076	+			902			Cytoplasmic (Potential).		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2704C>G	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	9.704	1.155224	0.21371	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89050	-2.46;-2.46;-2.46	5.89	5.01	0.66863	.	0.125716	0.56097	N	0.000040	T	0.79353	0.4431	N	0.08118	0	0.40503	D	0.980668	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.73662	-0.3912	10	0.36615	T	0.2	.	16.2765	0.82646	0.0:0.8676:0.1324:0.0	.	912;902	E7ENE0;P41180	.;CASR_HUMAN	V	902;912;902	ENSP00000418685:L902V;ENSP00000420194:L912V;ENSP00000296154:L902V	ENSP00000296154:L902V	L	+	1	0	CASR	123486195	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	1.341000	0.33907	1.489000	0.48450	-0.304000	0.09214	CTT		PASS	0.662	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		18	71	18	71	---	---	---	---
NUDT16	131870	broad.mit.edu	37	3	131101028	131101028	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:131101028A>C	ENST00000521288.1	+	2	308	c.277A>C	c.(277-279)Act>Cct	p.T93P	RP11-933H2.4_ENST00000502521.1_RNA|NUDT16_ENST00000537561.1_Missense_Mutation_p.T47P|NUDT16_ENST00000359850.3_Missense_Mutation_p.T60P|NUDT16_ENST00000502852.1_Missense_Mutation_p.T93P			Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	93	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				adenosine to inosine editing (GO:0006382)|dephosphorylation (GO:0016311)|dITP catabolic process (GO:0035863)|IDP catabolic process (GO:0046709)|mRNA catabolic process (GO:0006402)|negative regulation of rRNA processing (GO:2000233)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|snoRNA catabolic process (GO:0016077)|XDP catabolic process (GO:1901639)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cobalt ion binding (GO:0050897)|dIDP diphosphatase activity (GO:0097383)|dITP diphosphatase activity (GO:0035870)|GTP binding (GO:0005525)|inosine-diphosphatase activity (GO:0090450)|ITP binding (GO:1901641)|m7G(5')pppN diphosphatase activity (GO:0050072)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)|mRNA binding (GO:0003729)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|protein homodimerization activity (GO:0042803)|snoRNA binding (GO:0030515)|XTP binding (GO:1901640)	p.T60P(1)		large_intestine(1)|lung(6)	7						CGTGGAGCGCACTGACTACCG	0.672																																						uc003eof.2																			1	Substitution - Missense(1)		lung(1)		0						c.(178-180)ACT>CCT		nudix-type motif 16							24.0	27.0	26.0					3																	131101028		2192	4286	6478	SO:0001583	missense	131870					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding	g.chr3:131101028A>C	AK055827	CCDS3070.1, CCDS3070.2, CCDS54640.1, CCDS54641.1	3q21.3	2005-01-25						"""Nudix motif containing"""	26442	protein-coding gene	gene with protein product						12477932	Standard	NM_152395		Approved	FLJ31265	uc021xec.1	Q96DE0		ENST00000521288.1:c.277A>C	3.37:g.131101028A>C	ENSP00000429274:p.Thr93Pro					uc003eoc.1_5'Flank|NUDT16_uc011bln.1_Missense_Mutation_p.T47P|NUDT16_uc003eog.1_Missense_Mutation_p.T60P	p.T60P	NM_152395	NP_689608	Q96DE0	NUD16_HUMAN			2	219	+			93			Nudix hydrolase.		B4E3B4|E9PED4|F5GYJ1|Q96N82	Missense_Mutation	SNP	ENST00000521288.1	37	c.178A>C	CCDS3070.2	.	.	.	.	.	.	.	.	.	.	A	12.44	1.937867	0.34189	.	.	ENSG00000198585	ENST00000537561;ENST00000359850;ENST00000521288;ENST00000502852	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	3.72	-5.21	0.02815	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.702233	0.12839	N	0.434971	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B;B	0.15473	0.002;0.013	B;B	0.17433	0.005;0.018	T	0.37979	-0.9682	10	0.26408	T	0.33	-0.1613	3.9101	0.09199	0.4343:0.0:0.2953:0.2704	.	93;60	Q96DE0;B4E3B4	NUD16_HUMAN;.	P	47;60;93;93	ENSP00000440230:T47P;ENSP00000352911:T60P;ENSP00000429274:T93P;ENSP00000422375:T93P	ENSP00000352911:T60P	T	+	1	0	NUDT16	132583718	0.001000	0.12720	0.304000	0.25085	0.968000	0.65278	-0.123000	0.10611	-1.400000	0.02061	-0.375000	0.07067	ACT		PASS	0.672	NUDT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356537.9	NM_152395		13	63	13	63	---	---	---	---
NMNAT3	349565	broad.mit.edu	37	3	139279867	139279867	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:139279867C>G	ENST00000296202.7	-	6	1125	c.744G>C	c.(742-744)gaG>gaC	p.E248D	NMNAT3_ENST00000406824.1_Missense_Mutation_p.E138D|NMNAT3_ENST00000406164.1_Missense_Mutation_p.E211D|NMNAT3_ENST00000413939.2_Missense_Mutation_p.E159D|RP11-319G6.1_ENST00000515247.1_RNA|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000511444.1_3'UTR|NMNAT3_ENST00000339837.5_Missense_Mutation_p.E211D|NMNAT3_ENST00000507242.1_5'Flank			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	248					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)	p.E211D(1)|p.E159D(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						TTGTCTTGCCCTCAGTGCTCT	0.527																																						uc003etj.2																			2	Substitution - Missense(2)		lung(2)		0						c.(742-744)GAG>GAC		nicotinamide mononucleotide adenylyltransferase							184.0	157.0	166.0					3																	139279867		2203	4300	6503	SO:0001583	missense	349565				water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	g.chr3:139279867C>G	AF345564	CCDS3111.1, CCDS56282.1	3q23	2013-09-20			ENSG00000163864	ENSG00000163864			20989	protein-coding gene	gene with protein product		608702				12574164	Standard	NM_178177		Approved	PNAT3	uc003etk.3	Q96T66	OTTHUMG00000159951	ENST00000296202.7:c.744G>C	3.37:g.139279867C>G	ENSP00000296202:p.Glu248Asp					NMNAT3_uc003etk.2_Missense_Mutation_p.E211D|NMNAT3_uc003etl.2_RNA|NMNAT3_uc010hul.2_Missense_Mutation_p.E159D	p.E248D	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN			4	784	-			248					B3KVR6|D3DNF2|D3DNF3|Q8N4G1	Missense_Mutation	SNP	ENST00000296202.7	37	c.744G>C		.	.	.	.	.	.	.	.	.	.	C	11.83	1.756659	0.31137	.	.	ENSG00000163864	ENST00000406164;ENST00000406824;ENST00000339837;ENST00000413939;ENST00000296202	D;D;D;D;D	0.97575	-4.22;-3.89;-4.22;-4.16;-4.44	4.84	-1.74	0.08056	.	3.128620	0.01204	N	0.007662	D	0.93588	0.7953	L	0.29908	0.895	0.09310	N	1	B;B	0.22276	0.039;0.067	B;B	0.17433	0.011;0.018	D	0.85839	0.1396	10	0.35671	T	0.21	0.0281	8.9806	0.35964	0.0:0.4878:0.0:0.5122	.	159;248	B3KVR6;Q96T66	.;NMNA3_HUMAN	D	211;138;211;159;248	ENSP00000384319:E211D;ENSP00000384684:E138D;ENSP00000340523:E211D;ENSP00000412953:E159D;ENSP00000296202:E248D	ENSP00000296202:E248D	E	-	3	2	NMNAT3	140762557	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	0.214000	0.17541	-0.475000	0.06852	-0.793000	0.03317	GAG		PASS	0.527	NMNAT3-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000358469.1	NM_178177		90	115	90	115	---	---	---	---
PLSCR4	57088	broad.mit.edu	37	3	145913054	145913054	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:145913054C>T	ENST00000354952.2	-	8	1042	c.802G>A	c.(802-804)Ggc>Agc	p.G268S	PLSCR4_ENST00000433593.2_Missense_Mutation_p.G163S|PLSCR4_ENST00000493382.1_Missense_Mutation_p.G268S|PLSCR4_ENST00000383083.2_Missense_Mutation_p.G178S|PLSCR4_ENST00000446574.2_Missense_Mutation_p.G268S	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	268					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)	p.G268S(1)		kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TTGGATATGCCATCAAGGGAT	0.398																																						uc010huy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(802-804)GGC>AGC		phospholipid scramblase 4 isoform a							150.0	129.0	136.0					3																	145913054		2203	4300	6503	SO:0001583	missense	57088				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:145913054C>T	AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.802G>A	3.37:g.145913054C>T	ENSP00000347038:p.Gly268Ser					PLSCR4_uc010huz.2_Missense_Mutation_p.G268S|PLSCR4_uc003evt.3_Missense_Mutation_p.G268S|PLSCR4_uc010hva.2_Missense_Mutation_p.G178S|PLSCR4_uc003evu.3_Missense_Mutation_p.G163S	p.G268S	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN			8	1131	-			268			Cytoplasmic (By similarity).		A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	ENST00000354952.2	37	c.802G>A	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669524	0.67814	.	.	ENSG00000114698	ENST00000354952;ENST00000383083;ENST00000433593;ENST00000446574;ENST00000493382	T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8	4.75	4.75	0.60458	.	0.101572	0.43747	D	0.000531	T	0.49389	0.1554	M	0.76002	2.32	0.38134	D	0.938259	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.979	T	0.46386	-0.9195	10	0.18710	T	0.47	.	17.0333	0.86467	0.0:1.0:0.0:0.0	.	178;268	E9PHR9;Q9NRQ2	.;PLS4_HUMAN	S	268;178;163;268;268	ENSP00000347038:G268S;ENSP00000372561:G178S;ENSP00000415605:G163S;ENSP00000399315:G268S;ENSP00000419040:G268S	ENSP00000347038:G268S	G	-	1	0	PLSCR4	147395744	0.961000	0.32948	0.127000	0.21898	0.004000	0.04260	4.679000	0.61649	2.621000	0.88768	0.591000	0.81541	GGC		PASS	0.398	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353		38	67	38	67	---	---	---	---
SI	6476	broad.mit.edu	37	3	164786518	164786518	+	Missense_Mutation	SNP	G	G	C	rs201105530		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:164786518G>C	ENST00000264382.3	-	5	537	c.475C>G	c.(475-477)Cgg>Ggg	p.R159G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	159	Isomaltase.				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.R159G(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)	ACCTTGAACCGGAAACGATTG	0.423										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(475-477)CGG>GGG		sucrase-isomaltase	Acarbose(DB00284)						111.0	114.0	113.0					3																	164786518		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.chr3:164786518G>C	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.475C>G	3.37:g.164786518G>C	ENSP00000264382:p.Arg159Gly	HNSCC(35;0.089)					p.R159G	NM_001041	NP_001032	P14410	SUIS_HUMAN			5	537	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	159			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.475C>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692329	0.48202	.	.	ENSG00000090402	ENST00000264382	D	0.90444	-2.67	5.67	4.8	0.61643	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.95053	0.8398	M	0.89904	3.07	0.52501	D	0.999954	D	0.69078	0.997	D	0.64042	0.921	D	0.95150	0.8272	10	0.72032	D	0.01	.	9.7204	0.40300	0.0705:0.0:0.7896:0.1399	.	159	P14410	SUIS_HUMAN	G	159	ENSP00000264382:R159G	ENSP00000264382:R159G	R	-	1	2	SI	166269212	1.000000	0.71417	0.995000	0.50966	0.195000	0.23768	3.963000	0.56773	1.543000	0.49345	-0.218000	0.12543	CGG		PASS	0.423	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		43	102	43	102	---	---	---	---
ATP11B	23200	broad.mit.edu	37	3	182616502	182616502	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:182616502A>G	ENST00000323116.5	+	28	3520	c.3260A>G	c.(3259-3261)gAt>gGt	p.D1087G		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1087					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.D1087G(1)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CTATTTCTTGATATCATAAAG	0.373																																						uc003flb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(3259-3261)GAT>GGT		ATPase, class VI, type 11B							139.0	126.0	130.0					3																	182616502		2203	4300	6503	SO:0001583	missense	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182616502A>G	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.3260A>G	3.37:g.182616502A>G	ENSP00000321195:p.Asp1087Gly					ATP11B_uc003flc.2_Missense_Mutation_p.D671G|ATP11B_uc010hxg.2_RNA|ATP11B_uc010hxh.1_Missense_Mutation_p.D29G	p.D1087G	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		28	3517	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		1087			Helical; (Potential).		Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.3260A>G	CCDS33896.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	17.60|17.60|17.60	3.430499|3.430499|3.430499	0.62844|0.62844|0.62844	.|.|.	.|.|.	ENSG00000058063|ENSG00000058063|ENSG00000058063	ENST00000323116;ENST00000442545|ENST00000498086|ENST00000491699;ENST00000484691	T|.|.	0.45276|.|.	0.9|.|.	5.55|5.55|5.55	5.55|5.55|5.55	0.83447|0.83447|0.83447	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.80008|0.80008|.	0.4545|0.4545|.	M|M|M	0.87381|0.87381|0.87381	2.88|2.88|2.88	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D|.|.	0.89917|.|.	0.996;1.0;1.0|.|.	D;D;D|.|.	0.85130|.|.	0.993;0.997;0.992|.|.	T|T|.	0.83043|0.83043|.	-0.0156|-0.0156|.	10|5|.	0.87932|.|.	D|.|.	0|.|.	.|.|.	15.6843|15.6843|15.6843	0.77396|0.77396|0.77396	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	29;661;1087|.|.	E9PDZ3;B3KSJ2;Q9Y2G3|.|.	.;.;AT11B_HUMAN|.|.	G|V|W	1087;29|888|71;36	ENSP00000321195:D1087G|.|.	ENSP00000321195:D1087G|.|.	D|I|X	+|+|+	2|1|3	0|0|0	ATP11B|ATP11B|ATP11B	184099196|184099196|184099196	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.912000|0.912000|0.912000	0.35992|0.35992|0.35992	0.235000|0.235000|0.235000	0.25334|0.25334|0.25334	8.962000|8.962000|8.962000	0.93254|0.93254|0.93254	2.114000|2.114000|2.114000	0.64651|0.64651|0.64651	0.477000|0.477000|0.477000	0.44152|0.44152|0.44152	GAT|ATA|TGA		PASS	0.373	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		24	80	24	80	---	---	---	---
HTR3E	285242	broad.mit.edu	37	3	183818284	183818284	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:183818284A>C	ENST00000415389.2	+	2	545	c.79A>C	c.(79-81)Act>Cct	p.T27P	HTR3E_ENST00000440596.2_Missense_Mutation_p.T42P|HTR3E_ENST00000425359.2_Missense_Mutation_p.T27P|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Missense_Mutation_p.T42P|HTR3E_ENST00000335304.2_Missense_Mutation_p.T42P	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	27					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.T42P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	AAGGGGCGTTACTTTCACCAT	0.557																																					Melanoma(7;227 727 6634 44770)	uc010hxq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(79-81)ACT>CCT		5-hydroxytryptamine receptor 3 subunit E							236.0	224.0	228.0					3																	183818284		2203	4300	6503	SO:0001583	missense	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183818284A>C	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.79A>C	3.37:g.183818284A>C	ENSP00000401444:p.Thr27Pro					HTR3E_uc003fml.3_Missense_Mutation_p.T27P|HTR3E_uc003fmm.2_Missense_Mutation_p.T42P|HTR3E_uc010hxr.2_Missense_Mutation_p.T42P|HTR3E_uc003fmn.2_Missense_Mutation_p.T42P	p.T27P	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		2	545	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		27			Extracellular (Potential).		A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	ENST00000415389.2	37	c.79A>C	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	a	17.86	3.491832	0.64074	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000436361;ENST00000440596	T;T;T;T;T	0.79554	-1.26;-1.15;-1.28;-1.21;-1.25	3.8	-1.38	0.09027	.	1.580320	0.04825	U	0.437705	T	0.80747	0.4682	L	0.57536	1.79	0.09310	N	1	P;P;P;D;P	0.55605	0.918;0.918;0.951;0.972;0.951	B;B;P;P;P	0.51615	0.372;0.372;0.675;0.675;0.558	T	0.67321	-0.5700	10	0.62326	D	0.03	.	3.7268	0.08477	0.5251:0.0:0.3099:0.165	.	42;27;42;42;27	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	P	27;27;42;42;42	ENSP00000401444:T27P;ENSP00000401900:T27P;ENSP00000335511:T42P;ENSP00000395833:T42P;ENSP00000406050:T42P	ENSP00000335511:T42P	T	+	1	0	HTR3E	185300978	0.000000	0.05858	0.001000	0.08648	0.667000	0.39255	-0.400000	0.07241	-0.114000	0.11936	0.533000	0.62120	ACT		PASS	0.557	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		5	724	5	724	---	---	---	---
BCL6	604	broad.mit.edu	37	3	187451445	187451445	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:187451445G>C	ENST00000406870.2	-	3	403	c.37C>G	c.(37-39)Cgc>Ggc	p.R13G	BCL6_ENST00000450123.2_Missense_Mutation_p.R13G|BCL6_ENST00000232014.4_Missense_Mutation_p.R13G|RP11-211G3.3_ENST00000449623.1_Missense_Mutation_p.R88P|BCL6_ENST00000496823.1_5'Flank	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	13					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R13G(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTGGCATGGCGGGTGAACTGG	0.493			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	uc003frp.3				Dom	yes		3	3q27	604	T|Mis	B-cell CLL/lymphoma 6			L	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3		NHL|CLL		1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(1)	5						c.(37-39)CGC>GGC		B-cell lymphoma 6 protein isoform 1							81.0	81.0	81.0					3																	187451445		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187451445G>C		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.37C>G	3.37:g.187451445G>C	ENSP00000384371:p.Arg13Gly					BCL6_uc011bsf.1_Missense_Mutation_p.R13G|BCL6_uc010hza.2_5'UTR|BCL6_uc003frq.1_Missense_Mutation_p.R13G	p.R13G	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	3	494	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		13					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.37C>G	CCDS3289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.077637|5.077637	0.94000|0.94000	.|.	.|.	ENSG00000113916|ENSG00000228804	ENST00000406870;ENST00000232014;ENST00000450123;ENST00000430339;ENST00000438077|ENST00000449623	T;T;T;T;T|.	0.70045|.	-0.45;-0.45;-0.45;-0.45;-0.45|.	5.7|5.7	5.7|5.7	0.88788|0.88788	BTB/POZ fold (2);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.63402|0.63402	0.2508|0.2508	L|L	0.33710|0.33710	1.025|1.025	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.989|.	D;D|.	0.80764|.	0.994;0.984|.	T|T	0.64728|0.64728	-0.6339|-0.6339	10|7	0.87932|0.87932	D|D	0|0	.|.	19.2026|19.2026	0.93717|0.93717	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	13;13|.	B8PSA7;P41182|.	.;BCL6_HUMAN|.	G|P	13|88	ENSP00000384371:R13G;ENSP00000232014:R13G;ENSP00000413122:R13G;ENSP00000415574:R13G;ENSP00000414455:R13G|.	ENSP00000232014:R13G|ENSP00000407813:R88P	R|R	-|+	1|2	0|0	BCL6|RP11-211G3.3	188934139|188934139	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.238000|9.238000	0.95380|0.95380	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	CGC|CGG		PASS	0.493	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		44	71	44	71	---	---	---	---
FBXO45	200933	broad.mit.edu	37	3	196304528	196304528	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:196304528A>T	ENST00000311630.6	+	2	820	c.523A>T	c.(523-525)Aca>Tca	p.T175S	FBXO45_ENST00000440469.1_5'UTR	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	175	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386)	cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.T175S(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TGGAATTGCCACAAAACGGGC	0.547																																						uc010iai.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(523-525)ACA>TCA		F-box protein 45							42.0	43.0	43.0					3																	196304528		1934	4149	6083	SO:0001583	missense	200933				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding	g.chr3:196304528A>T	AK025697	CCDS46985.1	3q29	2008-02-05			ENSG00000174013	ENSG00000174013		"""F-boxes /  ""other"""""	29148	protein-coding gene	gene with protein product		609112					Standard	NM_001105573		Approved	Fbx45	uc010iai.3	P0C2W1	OTTHUMG00000155571	ENST00000311630.6:c.523A>T	3.37:g.196304528A>T	ENSP00000310332:p.Thr175Ser						p.T175S	NM_001105573	NP_001099043	P0C2W1	FBSP1_HUMAN	Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)	2	654	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		175			B30.2/SPRY.		A6NF90|D3DXB5	Missense_Mutation	SNP	ENST00000311630.6	37	c.523A>T	CCDS46985.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.235143	0.79800	.	.	ENSG00000174013	ENST00000311630	T	0.59906	0.23	4.95	4.95	0.65309	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.094228	0.64402	D	0.000001	T	0.53626	0.1808	L	0.50333	1.59	0.80722	D	1	P	0.44090	0.826	B	0.40702	0.338	T	0.58719	-0.7587	10	0.49607	T	0.09	-16.3892	14.8356	0.70180	1.0:0.0:0.0:0.0	.	175	P0C2W1	FBSP1_HUMAN	S	175	ENSP00000310332:T175S	ENSP00000310332:T175S	T	+	1	0	FBXO45	197788925	1.000000	0.71417	0.995000	0.50966	0.941000	0.58515	8.490000	0.90464	2.108000	0.64289	0.374000	0.22700	ACA		PASS	0.547	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340687.2			7	46	7	46	---	---	---	---
NOP14	8602	broad.mit.edu	37	4	2951818	2951818	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr4:2951818G>C	ENST00000314262.6	-	8	1173	c.1125C>G	c.(1123-1125)agC>agG	p.S375R	NOP14_ENST00000398071.4_Missense_Mutation_p.S375R|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000416614.2_Missense_Mutation_p.S375R|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.S375R	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	375					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)	p.S375R(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						GGCTATCTGGGCTGTCGCTCT	0.537																																						uc003ggj.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1123-1125)AGC>AGG		probable nucleolar complex protein 14							311.0	306.0	307.0					4																	2951818		2203	4300	6503	SO:0001583	missense	8602				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	g.chr4:2951818G>C	AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1125C>G	4.37:g.2951818G>C	ENSP00000315674:p.Ser375Arg					C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Missense_Mutation_p.S121R|NOP14_uc003ggk.3_Missense_Mutation_p.S375R|NOP14_uc003ggl.2_Missense_Mutation_p.S375R	p.S375R	NM_003703	NP_003694	P78316	NOP14_HUMAN			8	1197	-			375					D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	ENST00000314262.6	37	c.1125C>G	CCDS33945.1	.	.	.	.	.	.	.	.	.	.	G	5.352	0.250212	0.10130	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.13	-1.56	0.08532	.	0.855815	0.10758	N	0.637545	T	0.26666	0.0652	M	0.68317	2.08	0.09310	N	1	P;P;B	0.39157	0.662;0.662;0.299	B;B;B	0.33392	0.163;0.163;0.116	T	0.13442	-1.0509	10	0.87932	D	0	-10.1463	7.8205	0.29284	0.4716:0.0:0.4237:0.1047	.	168;375;375	Q96GC8;E9PFK5;P78316	.;.;NOP14_HUMAN	R	375;375;375;375;274	ENSP00000405068:S375R;ENSP00000315674:S375R;ENSP00000427415:S375R;ENSP00000381146:S375R	ENSP00000315674:S375R	S	-	3	2	NOP14	2921616	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.107000	0.10873	-0.482000	0.06782	-1.731000	0.00696	AGC		PASS	0.537	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703		12	483	12	483	---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20611673	20611673	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr4:20611673G>T	ENST00000504154.1	+	34	3982	c.3730G>T	c.(3730-3732)Gaa>Taa	p.E1244*	SLIT2_ENST00000503837.1_Nonsense_Mutation_p.E1240*|SLIT2_ENST00000273739.5_Nonsense_Mutation_p.E1257*|SLIT2_ENST00000503823.1_Nonsense_Mutation_p.E1236*	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1244	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.E1244*(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCACATTGTGGAACTACTTGC	0.398																																						uc003gpr.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(3730-3732)GAA>TAA		slit homolog 2 precursor							193.0	179.0	183.0					4																	20611673		2203	4300	6503	SO:0001587	stop_gained	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20611673G>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3730G>T	4.37:g.20611673G>T	ENSP00000422591:p.Glu1244*					SLIT2_uc003gps.1_Nonsense_Mutation_p.E1236*	p.E1244*	NM_004787	NP_004778	O94813	SLIT2_HUMAN			34	3934	+			1244			Laminin G-like.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Nonsense_Mutation	SNP	ENST00000504154.1	37	c.3730G>T	CCDS3426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.663254|5.663254	0.96745|0.96745	.|.	.|.	ENSG00000145147|ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837|ENST00000512993	.|.	.|.	.|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80037	.|0.4550	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77705	.|-0.2488	.|3	0.45353|.	T|.	0.12|.	.|.	20.0784|20.0784	0.97758|0.97758	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|C	1236;1244;1257;1240;1240|27	.|.	ENSP00000273739:E1257X|.	E|W	+|+	1|3	0|0	SLIT2|SLIT2	20220771|20220771	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	9.810000|9.810000	0.99221|0.99221	2.736000|2.736000	0.93811|0.93811	0.655000|0.655000	0.94253|0.94253	GAA|TGG		PASS	0.398	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			30	51	30	51	---	---	---	---
RHOH	399	broad.mit.edu	37	4	40245254	40245254	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr4:40245254A>G	ENST00000381799.5	+	3	972	c.248A>G	c.(247-249)tAc>tGc	p.Y83C	RHOH_ENST00000505618.1_Missense_Mutation_p.Y83C	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	83	Interaction with ZAP70. {ECO:0000250}.				mast cell activation (GO:0045576)|negative regulation of catalytic activity (GO:0043086)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of phosphorylation (GO:0042326)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase inhibitor activity (GO:0005095)|kinase inhibitor activity (GO:0019210)|Rho GTPase binding (GO:0017048)	p.Y83C(1)		kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						CTGATGTGCTACTCTGTGGCC	0.562																																						uc003guz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(247-249)TAC>TGC		ras homolog gene family, member H precursor							99.0	86.0	90.0					4																	40245254		2203	4300	6503	SO:0001583	missense	399				negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding	g.chr4:40245254A>G	Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421			686	protein-coding gene	gene with protein product		602037	"""ras homolog gene family, member H"""	ARHH		7784061	Standard	NM_001278359		Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.248A>G	4.37:g.40245254A>G	ENSP00000371219:p.Tyr83Cys						p.Y83C	NM_004310	NP_004301	Q15669	RHOH_HUMAN			3	972	+			83			Interaction with ZAP70 (By similarity).			Missense_Mutation	SNP	ENST00000381799.5	37	c.248A>G	CCDS3458.1	.	.	.	.	.	.	.	.	.	.	a	16.45	3.127100	0.56721	.	.	ENSG00000168421	ENST00000505618;ENST00000507851;ENST00000503941;ENST00000381799	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.74	5.74	0.90152	Small GTP-binding protein domain (1);	0.062578	0.64402	D	0.000003	D	0.90448	0.7009	M	0.88570	2.965	0.58432	D	0.999998	D	0.67145	0.996	P	0.61397	0.888	D	0.91719	0.5387	10	0.87932	D	0	.	9.9366	0.41554	0.7383:0.0:0.0:0.2617	.	83	Q15669	RHOH_HUMAN	C	83	ENSP00000425010:Y83C;ENSP00000423384:Y83C;ENSP00000426439:Y83C;ENSP00000371219:Y83C	ENSP00000371219:Y83C	Y	+	2	0	RHOH	39921649	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	2.496000	0.45346	2.187000	0.69744	0.477000	0.44152	TAC		PASS	0.562	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216820.3	NM_004310		67	43	67	43	---	---	---	---
DCAF4L1	285429	broad.mit.edu	37	4	41984446	41984446	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr4:41984446G>A	ENST00000333141.5	+	1	734	c.637G>A	c.(637-639)Gtg>Atg	p.V213M		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	213								p.V213M(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GTTGACCAGCGTGGCGACGGG	0.567																																						uc003gwk.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(637-639)GTG>ATG		WD repeat domain 21B							175.0	161.0	166.0					4																	41984446		2203	4300	6503	SO:0001583	missense	285429							g.chr4:41984446G>A	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.637G>A	4.37:g.41984446G>A	ENSP00000327796:p.Val213Met						p.V213M	NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN			1	734	+			213					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	ENST00000333141.5	37	c.637G>A	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369098	0.42003	.	.	ENSG00000182308	ENST00000333141	T	0.71934	-0.61	0.688	0.688	0.18027	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.211367	0.49305	D	0.000144	T	0.63058	0.2479	L	0.60455	1.87	0.37573	D	0.919492	D	0.64830	0.994	B	0.41894	0.369	T	0.70432	-0.4873	9	0.87932	D	0	.	.	.	.	.	213	Q3SXM0	DC4L1_HUMAN	M	213	ENSP00000327796:V213M	ENSP00000327796:V213M	V	+	1	0	DCAF4L1	41679203	1.000000	0.71417	0.954000	0.39281	0.582000	0.36321	4.232000	0.58645	0.635000	0.30488	0.313000	0.20887	GTG		PASS	0.567	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		248	203	248	203	---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47667163	47667163	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr4:47667163G>C	ENST00000273857.4	-	11	1474	c.1475C>G	c.(1474-1476)tCt>tGt	p.S492C	CORIN_ENST00000505909.1_Missense_Mutation_p.S455C|CORIN_ENST00000502252.1_Missense_Mutation_p.S425C|CORIN_ENST00000508498.1_Missense_Mutation_p.S353C|CORIN_ENST00000504584.1_Missense_Mutation_p.S455C	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	492	FZ 2. {ECO:0000255|PROSITE- ProRule:PRU00090}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.S492C(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGGGAAAAGAGAAGACTCCCA	0.403																																						uc003gxm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1474-1476)TCT>TGT		corin							121.0	121.0	121.0					4																	47667163		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47667163G>C	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1475C>G	4.37:g.47667163G>C	ENSP00000273857:p.Ser492Cys					CORIN_uc011bzf.1_Missense_Mutation_p.S353C|CORIN_uc011bzg.1_Missense_Mutation_p.S425C|CORIN_uc011bzh.1_Missense_Mutation_p.S455C|CORIN_uc011bzi.1_Missense_Mutation_p.S455C	p.S492C	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN			11	1568	-			492			Extracellular (Potential).|FZ 2.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.1475C>G	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290442	0.80914	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	5.25	5.25	0.73442	Frizzled domain (5);	0.061453	0.64402	D	0.000002	D	0.88518	0.6458	M	0.81802	2.56	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.997;0.998	D;D;D;D	0.69824	0.966;0.966;0.909;0.963	D	0.88383	0.3003	10	0.49607	T	0.09	.	19.0552	0.93062	0.0:0.0:1.0:0.0	.	455;455;425;492	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	C	492;353;425;455;455	ENSP00000273857:S492C;ENSP00000425597:S353C;ENSP00000424212:S425C;ENSP00000425401:S455C;ENSP00000423216:S455C	ENSP00000273857:S492C	S	-	2	0	CORIN	47361920	1.000000	0.71417	0.989000	0.46669	0.866000	0.49608	8.853000	0.92222	2.729000	0.93468	0.650000	0.86243	TCT		PASS	0.403	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			3	83	3	83	---	---	---	---
HOPX	84525	broad.mit.edu	37	4	57522135	57522135	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr4:57522135T>A	ENST00000337881.7	-	2	688	c.32A>T	c.(31-33)gAg>gTg	p.E11V	HOPX_ENST00000553379.2_Missense_Mutation_p.E11V|HOPX_ENST00000381255.3_Missense_Mutation_p.E11V|HOPX_ENST00000508121.1_Missense_Mutation_p.E29V|HOPX_ENST00000420433.1_Missense_Mutation_p.E29V|HOPX_ENST00000554144.1_Missense_Mutation_p.E29V|HOPX_ENST00000556614.2_Missense_Mutation_p.E11V|HOPX_ENST00000556376.2_Missense_Mutation_p.E11V|HOPX_ENST00000555760.2_Missense_Mutation_p.E11V|HOPX_ENST00000503639.3_Missense_Mutation_p.E11V|HOPX_ENST00000317745.7_Missense_Mutation_p.E11V|HOPX_ENST00000381260.3_Missense_Mutation_p.E11V	NM_139212.3	NP_631958.1	Q9BPY8	HOP_HUMAN	HOP homeobox	11					heart development (GO:0007507)|histone deacetylation (GO:0016575)|lung alveolus development (GO:0048286)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of heart contraction (GO:0008016)|regulation of protein binding (GO:0043393)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E29V(1)|p.E11V(1)		large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					CACCTGGTCCTCTGTGGGGCC	0.687																																						uc011cad.1																			2	Substitution - Missense(2)		lung(2)		0						c.(31-33)GAG>GTG		HOP homeobox isoform b							71.0	62.0	65.0					4																	57522135		2202	4300	6502	SO:0001583	missense	84525				negative regulation of cell differentiation|trophectodermal cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:57522135T>A		CCDS3507.1, CCDS47062.1, CCDS54767.1	4q12	2011-06-20			ENSG00000171476	ENSG00000171476		"""Homeoboxes / PRD class"""	24961	protein-coding gene	gene with protein product	"""homeobox only domain"""	607275				12297045	Standard	NM_032495		Approved	LAGY, HOP, OB1, NECC1, SMAP31	uc003hbz.2	Q9BPY8	OTTHUMG00000128768	ENST00000337881.7:c.32A>T	4.37:g.57522135T>A	ENSP00000337330:p.Glu11Val					HOPX_uc003hcc.2_Missense_Mutation_p.E29V|HOPX_uc003hca.2_Missense_Mutation_p.E29V|HOPX_uc003hcb.2_Missense_Mutation_p.E11V|HOPX_uc003hcd.2_RNA|HOPX_uc003hce.2_RNA|HOPX_uc003hbz.2_Missense_Mutation_p.E11V	p.E11V	NM_001145459	NP_001138931	Q9BPY8	HOP_HUMAN			2	267	-	Glioma(25;0.08)|all_neural(26;0.101)		11			Homeobox; atypical.		A8K0Z2|E9PB55|G3V294|Q8N0V6|Q96CI1	Missense_Mutation	SNP	ENST00000337881.7	37	c.32A>T	CCDS3507.1	.	.	.	.	.	.	.	.	.	.	T	10.11	1.260492	0.23051	.	.	ENSG00000171476	ENST00000420433;ENST00000554144;ENST00000508121;ENST00000556376;ENST00000553379;ENST00000381260;ENST00000381255;ENST00000317745;ENST00000503639;ENST00000503864;ENST00000337881;ENST00000555760;ENST00000556614;ENST00000509435;ENST00000514890;ENST00000506661;ENST00000557328	D;D;D;D;D;D;D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97;-3.97;-3.97;-3.97;-3.97;-3.97;-3.97	4.67	1.97	0.26223	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.575823	0.17631	N	0.167387	D	0.94059	0.8096	L	0.53249	1.67	0.45822	D	0.998693	P;P;B	0.46512	0.879;0.611;0.44	P;B;B	0.46172	0.506;0.196;0.257	D	0.89804	0.3977	10	0.24483	T	0.36	-20.4591	8.2598	0.31777	0.0:0.0:0.4011:0.5989	.	29;29;11	G3V294;E9PB55;Q9BPY8	.;.;HOP_HUMAN	V	29;29;29;11;11;11;11;11;11;11;11;11;11;11;11;11;11	ENSP00000396275:E29V;ENSP00000422175:E29V;ENSP00000451794:E11V;ENSP00000452340:E11V;ENSP00000370654:E11V;ENSP00000315198:E11V;ENSP00000424101:E11V;ENSP00000337330:E11V;ENSP00000452098:E11V;ENSP00000452003:E11V	ENSP00000315198:E11V	E	-	2	0	HOPX	57216892	0.999000	0.42202	0.993000	0.49108	0.064000	0.16182	2.318000	0.43779	0.613000	0.30089	-0.619000	0.04042	GAG		PASS	0.687	HOPX-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250689.4			15	11	15	11	---	---	---	---
STATH	6779	broad.mit.edu	37	4	70866662	70866662	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr4:70866662T>A	ENST00000246895.4	+	5	296	c.185T>A	c.(184-186)tTt>tAt	p.F62Y	STATH_ENST00000381060.2_Missense_Mutation_p.F52Y	NM_003154.2	NP_003145.1	P02808	STAT_HUMAN	statherin	62	Hydrophobic; inhibits precipitation of calcium phosphate salts.		Missing. {ECO:0000269|PubMed:1663737}.		biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|ossification (GO:0001503)|saliva secretion (GO:0046541)	extracellular region (GO:0005576)	extracellular matrix constituent, lubricant activity (GO:0030197)|hydroxyapatite binding (GO:0046848)|structural constituent of tooth enamel (GO:0030345)	p.F62Y(1)		lung(2)|skin(1)	3						CAATATACCTTTTAATATCAT	0.378																																						uc003heu.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(184-186)TTT>TAT		statherin isoform a							222.0	197.0	206.0					4																	70866662		2203	4300	6503	SO:0001583	missense	6779				biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion	extracellular region	extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel	g.chr4:70866662T>A		CCDS3533.1, CCDS33998.1	4q13.3	2012-10-02			ENSG00000126549	ENSG00000126549			11369	protein-coding gene	gene with protein product		184470				3502720	Standard	NM_003154		Approved	STR	uc003heu.1	P02808	OTTHUMG00000129394	ENST00000246895.4:c.185T>A	4.37:g.70866662T>A	ENSP00000246895:p.Phe62Tyr					STATH_uc003hev.1_Missense_Mutation_p.F52Y	p.F62Y	NM_003154	NP_003145	P02808	STAT_HUMAN			5	295	+			62		Missing (in statherin variants SV1 and SV3).	Hydrophobic; inhibits precipitation of calcium phosphate salts.		A6NKE9|B2R4F8	Missense_Mutation	SNP	ENST00000246895.4	37	c.185T>A	CCDS3533.1	.	.	.	.	.	.	.	.	.	.	T	0.314	-0.966011	0.02249	.	.	ENSG00000126549	ENST00000246895;ENST00000381060	.	.	.	2.32	-4.65	0.03339	.	.	.	.	.	T	0.27241	0.0668	.	.	.	0.09310	N	1	B;B	0.27351	0.176;0.176	B;B	0.20384	0.029;0.029	T	0.06391	-1.0829	7	0.87932	D	0	.	4.8919	0.13731	0.2238:0.0:0.3114:0.4648	.	52;62	A6NKE9;P02808	.;STAT_HUMAN	Y	62;52	.	ENSP00000246895:F62Y	F	+	2	0	STATH	70901251	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.535000	0.00940	-3.056000	0.00258	-2.980000	0.00080	TTT		PASS	0.378	STATH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251550.1	NM_003154		14	28	14	28	---	---	---	---
ADAMTS3	9508	broad.mit.edu	37	4	73164143	73164143	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr4:73164143T>A	ENST00000286657.4	-	18	2477	c.2441A>T	c.(2440-2442)aAt>aTt	p.N814I		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	814	Spacer.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N814I(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCGGGTATCATTTTCTTGAGG	0.323																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(2440-2442)AAT>ATT		ADAM metallopeptidase with thrombospondin type 1							125.0	112.0	117.0					4																	73164143		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73164143T>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2441A>T	4.37:g.73164143T>A	ENSP00000286657:p.Asn814Ile					ADAMTS3_uc003hgl.2_Missense_Mutation_p.N155I	p.N814I	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		18	2478	-			814			Spacer.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2441A>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	T	18.39	3.614078	0.66672	.	.	ENSG00000156140	ENST00000286657	T	0.53423	0.62	5.74	5.74	0.90152	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.49218	0.1544	L	0.44542	1.39	0.58432	D	0.999997	B	0.34313	0.448	B	0.41723	0.365	T	0.49899	-0.8890	10	0.52906	T	0.07	.	16.0351	0.80621	0.0:0.0:0.0:1.0	.	814	O15072	ATS3_HUMAN	I	814	ENSP00000286657:N814I	ENSP00000286657:N814I	N	-	2	0	ADAMTS3	73383007	1.000000	0.71417	0.910000	0.35882	0.931000	0.56810	7.606000	0.82863	2.186000	0.69663	0.533000	0.62120	AAT		PASS	0.323	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			18	4	18	4	---	---	---	---
EGF	1950	broad.mit.edu	37	4	110864592	110864592	+	Splice_Site	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr4:110864592G>A	ENST00000265171.5	+	3	954		c.e3+1		EGF_ENST00000502723.1_Splice_Site|EGF_ENST00000509793.1_Splice_Site|EGF_ENST00000503392.1_Splice_Site	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor						activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	CAGTAGAAAGGTAAATTCTGC	0.308																																						uc003hzy.3																			1	Unknown(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.e3+1		epidermal growth factor precursor	Sulindac(DB00605)						58.0	58.0	58.0					4																	110864592		2202	4293	6495	SO:0001630	splice_region_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110864592G>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.509+1G>A	4.37:g.110864592G>A						EGF_uc011cfu.1_Splice_Site_p.R170_splice|EGF_uc011cfv.1_Splice_Site_p.R170_splice	p.R170_splice	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	3	961	+		Hepatocellular(203;0.0893)						B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Splice_Site	SNP	ENST00000265171.5	37	c.509_splice	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026850	0.75390	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5989	0.95551	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EGF	111084041	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.842000	0.75379	2.640000	0.89533	0.650000	0.86243	.		PASS	0.308	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1		Intron	11	3	11	3	---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115767116	115767116	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr4:115767116T>C	ENST00000264363.2	-	10	2656	c.1978A>G	c.(1978-1980)Agt>Ggt	p.S660G		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	660	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.S660G(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGAAAGTCACTTGTAGTATTG	0.388																																						uc003ibu.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(1978-1980)AGT>GGT		heparan sulfate N-deacetylase/N-sulfotransferase							83.0	80.0	81.0					4																	115767116		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115767116T>C	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1978A>G	4.37:g.115767116T>C	ENSP00000264363:p.Ser660Gly					NDST4_uc010imw.2_RNA	p.S660G	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	10	2657	-		Ovarian(17;0.156)	660			Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1978A>G	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.415536	0.42817	.	.	ENSG00000138653	ENST00000264363	T	0.52295	0.67	5.61	5.61	0.85477	Sulfotransferase domain (1);	0.364375	0.33075	N	0.005303	T	0.28300	0.0699	N	0.16266	0.395	0.37390	D	0.912423	B	0.02656	0.0	B	0.04013	0.001	T	0.21552	-1.0242	10	0.08837	T	0.75	.	10.9692	0.47431	0.1394:0.0:0.0:0.8606	.	660	Q9H3R1	NDST4_HUMAN	G	660	ENSP00000264363:S660G	ENSP00000264363:S660G	S	-	1	0	NDST4	115986565	0.960000	0.32886	0.996000	0.52242	0.947000	0.59692	1.831000	0.39141	2.125000	0.65367	0.533000	0.62120	AGT		PASS	0.388	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		24	5	24	5	---	---	---	---
ADAD1	132612	broad.mit.edu	37	4	123350799	123350799	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr4:123350799C>A	ENST00000296513.2	+	13	1821	c.1636C>A	c.(1636-1638)Caa>Aaa	p.Q546K	ADAD1_ENST00000388724.2_Missense_Mutation_p.Q535K|ADAD1_ENST00000388725.2_Missense_Mutation_p.Q528K	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	546	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.Q546K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGCCTCCTATCAAGAAGCTAA	0.358																																						uc003ieo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1636-1638)CAA>AAA		adenosine deaminase domain containing 1							96.0	91.0	93.0					4																	123350799		2203	4298	6501	SO:0001583	missense	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123350799C>A	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1636C>A	4.37:g.123350799C>A	ENSP00000296513:p.Gln546Lys					ADAD1_uc003iep.2_Missense_Mutation_p.Q535K|ADAD1_uc003ieq.2_Missense_Mutation_p.Q528K	p.Q546K	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN			13	1868	+			546			A to I editase.		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	c.1636C>A	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981573	0.74474	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.94687	-3.49;-3.49;-3.49	5.03	5.03	0.67393	Adenosine deaminase/editase (3);	0.000000	0.85682	D	0.000000	D	0.97052	0.9037	M	0.84156	2.68	0.80722	D	1	P;D	0.63046	0.824;0.992	P;P	0.62885	0.607;0.908	D	0.97530	1.0079	10	0.66056	D	0.02	-14.0655	17.5433	0.87854	0.0:1.0:0.0:0.0	.	535;546	Q96M93-2;Q96M93	.;ADAD1_HUMAN	K	546;535;528	ENSP00000296513:Q546K;ENSP00000373376:Q535K;ENSP00000373377:Q528K	ENSP00000296513:Q546K	Q	+	1	0	ADAD1	123570249	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.507000	0.66999	2.503000	0.84419	0.586000	0.80456	CAA		PASS	0.358	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		27	1	27	1	---	---	---	---
NUDT6	11162	broad.mit.edu	37	4	123814314	123814314	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr4:123814314C>A	ENST00000304430.5	-	5	653	c.620G>T	c.(619-621)aGt>aTt	p.S207I	NUDT6_ENST00000502270.1_Missense_Mutation_p.S38I|NUDT6_ENST00000608639.1_5'Flank|FGF2_ENST00000608478.1_3'UTR|FGF2_ENST00000264498.3_3'UTR|NUDT6_ENST00000339154.2_Missense_Mutation_p.S38I	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	207	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)	p.S207I(1)|p.S38I(1)		endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						TTGCCGAATACTCAGGACGGA	0.393																																						uc003iew.2																			2	Substitution - Missense(2)		lung(2)		0						c.(619-621)AGT>ATT		nudix-type motif 6 isoform a							84.0	88.0	87.0					4																	123814314		2203	4300	6503	SO:0001583	missense	11162					mitochondrion|nucleus	growth factor activity|hydrolase activity	g.chr4:123814314C>A	AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"""Nudix motif containing"""	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507	ENST00000304430.5:c.620G>T	4.37:g.123814314C>A	ENSP00000306070:p.Ser207Ile					FGF2_uc003iev.1_3'UTR|NUDT6_uc003iex.2_Missense_Mutation_p.S38I	p.S207I	NM_007083	NP_009014	P53370	NUDT6_HUMAN			5	652	-			207			Nudix hydrolase.		A8K756|O95097|Q9UQD9	Missense_Mutation	SNP	ENST00000304430.5	37	c.620G>T	CCDS43268.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927073	0.73327	.	.	ENSG00000170917	ENST00000304430;ENST00000339154;ENST00000502270	T;T;T	0.08896	3.04;3.04;3.04	5.41	3.68	0.42216	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.29093	0.0723	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.05582	-1.0876	10	0.87932	D	0	-5.0602	11.2852	0.49218	0.0:0.8542:0.0:0.1458	.	207	P53370	NUDT6_HUMAN	I	207;38;38	ENSP00000306070:S207I;ENSP00000344011:S38I;ENSP00000424117:S38I	ENSP00000306070:S207I	S	-	2	0	NUDT6	124033764	1.000000	0.71417	0.951000	0.38953	0.938000	0.57974	5.327000	0.65881	1.292000	0.44672	0.650000	0.86243	AGT		PASS	0.393	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095331.3	NM_007083		50	15	50	15	---	---	---	---
IRX1	79192	broad.mit.edu	37	5	3599381	3599381	+	Missense_Mutation	SNP	G	G	A	rs529975639		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr5:3599381G>A	ENST00000302006.3	+	2	371	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	107					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A107T(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGTGCACCCCGCCACCTTCGC	0.642																																						uc003jde.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(319-321)GCC>ACC		iroquois homeobox protein 1							38.0	42.0	40.0					5																	3599381		2203	4300	6503	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599381G>A	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.319G>A	5.37:g.3599381G>A	ENSP00000305244:p.Ala107Thr						p.A107T	NM_024337	NP_077313	P78414	IRX1_HUMAN			2	371	+			107					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.319G>A	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606086	0.28623	.	.	ENSG00000170549	ENST00000302006	T	0.61859	0.07	4.51	3.64	0.41730	.	0.056059	0.64402	D	0.000001	T	0.45637	0.1352	L	0.45051	1.395	0.52501	D	0.999954	P	0.42827	0.791	B	0.38296	0.27	T	0.30090	-0.9990	10	0.17832	T	0.49	-18.4225	12.3992	0.55404	0.0835:0.0:0.9165:0.0	.	107	P78414	IRX1_HUMAN	T	107	ENSP00000305244:A107T	ENSP00000305244:A107T	A	+	1	0	IRX1	3652381	1.000000	0.71417	0.629000	0.29254	0.032000	0.12392	5.902000	0.69869	0.990000	0.38787	-0.136000	0.14681	GCC		PASS	0.642	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		44	7	44	7	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13700970	13700970	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr5:13700970C>A	ENST00000265104.4	-	78	13606	c.13502G>T	c.(13501-13503)cGg>cTg	p.R4501L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4501					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.R4501L(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)					TTTGTTGGCCCGAGTTATTTC	0.453									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(13501-13503)CGG>CTG		dynein, axonemal, heavy chain 5							105.0	100.0	102.0					5																	13700970		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13700970C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13502G>T	5.37:g.13700970C>A	ENSP00000265104:p.Arg4501Leu					DNAH5_uc003jfc.2_Missense_Mutation_p.R669L	p.R4501L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			78	13544	-	Lung NSC(4;0.00476)		4501					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.13502G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	35	5.465581	0.96257	.	.	ENSG00000039139	ENST00000265104	T	0.14766	2.48	5.96	5.96	0.96718	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.61999	0.2392	H	0.99464	4.58	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.79308	-0.1857	10	0.87932	D	0	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	4501	Q8TE73	DYH5_HUMAN	L	4501	ENSP00000265104:R4501L	ENSP00000265104:R4501L	R	-	2	0	DNAH5	13753970	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.056000	0.71111	2.832000	0.97577	0.655000	0.94253	CGG		PASS	0.453	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		41	7	41	7	---	---	---	---
MTMR12	54545	broad.mit.edu	37	5	32312944	32312944	+	Start_Codon_SNP	SNP	T	T	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr5:32312944T>A	ENST00000382142.3	-	1	171	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	MTMR12_ENST00000264934.5_Start_Codon_SNP_p.M1L|MTMR12_ENST00000280285.5_Start_Codon_SNP_p.M1L	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	1						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)	p.M1L(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTCCCCAGCATACCGCCGCCC	0.741																																						uc003jhq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1-3)ATG>TTG		myotubularin related protein 12							19.0	20.0	20.0					5																	32312944		2168	4241	6409	SO:0001582	initiator_codon_variant	54545					cytoplasm	phosphatase activity	g.chr5:32312944T>A	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1A>T	5.37:g.32312944T>A	ENSP00000371577:p.Met1Leu					MTMR12_uc010iuk.2_Missense_Mutation_p.M1L|MTMR12_uc010iul.2_Missense_Mutation_p.M1L	p.M1L	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN			1	171	-			1					Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.1A>T	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.740920	0.49151	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.95035	-3.59;-3.25;-3.12	4.79	3.64	0.41730	.	0.459535	0.19848	N	0.104706	D	0.90034	0.6888	.	.	.	0.80722	D	1	B;B;B	0.14012	0.009;0.009;0.005	B;B;B	0.11329	0.006;0.004;0.003	D	0.87182	0.2228	9	0.87932	D	0	.	6.3449	0.21343	0.0:0.1097:0.0:0.8903	.	1;1;1	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	L	1	ENSP00000280285:M1L;ENSP00000371577:M1L;ENSP00000264934:M1L	ENSP00000264934:M1L	M	-	1	0	MTMR12	32348701	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	2.039000	0.41193	1.780000	0.52325	0.459000	0.35465	ATG		PASS	0.741	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061	Missense_Mutation	23	9	23	9	---	---	---	---
RAD17	5884	broad.mit.edu	37	5	68669760	68669760	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr5:68669760G>A	ENST00000509734.1	+	4	824	c.146G>A	c.(145-147)aGa>aAa	p.R49K	RAD17_ENST00000282891.6_Intron|RAD17_ENST00000358030.2_5'UTR|RAD17_ENST00000345306.6_Missense_Mutation_p.R38K|RAD17_ENST00000380774.3_Missense_Mutation_p.R49K|RAD17_ENST00000361732.2_Missense_Mutation_p.R38K|RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000354868.5_Missense_Mutation_p.R38K|RAD17_ENST00000354312.3_Missense_Mutation_p.R38K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000305138.4_Missense_Mutation_p.R38K			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	49					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.R38K(1)					Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AGTCATAGAAGAAAAAATGGG	0.368								Other conserved DNA damage response genes																														uc003jwo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(145-147)AGA>AAA	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	RAD17 homolog isoform 2							83.0	84.0	83.0					5																	68669760		2203	4300	6503	SO:0001583	missense	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68669760G>A	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.146G>A	5.37:g.68669760G>A	ENSP00000426191:p.Arg49Lys					RAD17_uc003jwg.2_Missense_Mutation_p.R38K|RAD17_uc003jwh.2_Missense_Mutation_p.R38K|RAD17_uc003jwi.2_Missense_Mutation_p.R38K|RAD17_uc003jwj.2_Missense_Mutation_p.R38K|RAD17_uc003jwk.2_Missense_Mutation_p.R38K|RAD17_uc003jwl.2_Missense_Mutation_p.R38K|RAD17_uc003jwm.2_5'UTR|RAD17_uc003jwn.2_Intron	p.R49K	NM_133339	NP_579917	O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	2	208	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	49					A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	c.146G>A	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	G	9.687	1.150967	0.21371	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000354312;ENST00000345306;ENST00000506564;ENST00000305138;ENST00000380774	T;T;T;T;T;T;T;T	0.41065	2.35;2.34;2.35;2.35;2.35;1.01;2.35;2.34	5.49	3.7	0.42460	.	0.386706	0.29376	N	0.012331	T	0.19967	0.0480	L	0.27053	0.805	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.15838	-1.0423	10	0.02654	T	1	-5.0596	2.3898	0.04375	0.1648:0.1499:0.5301:0.1552	.	49;38	O75943;O75943-2	RAD17_HUMAN;.	K	38;49;38;38;38;38;38;49	ENSP00000355226:R38K;ENSP00000426191:R49K;ENSP00000346938:R38K;ENSP00000346271:R38K;ENSP00000311227:R38K;ENSP00000424696:R38K;ENSP00000303134:R38K;ENSP00000370151:R49K	ENSP00000303134:R38K	R	+	2	0	RAD17	68705516	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	0.844000	0.27654	1.473000	0.48159	0.563000	0.77884	AGA		PASS	0.368	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		19	5	19	5	---	---	---	---
TMEM171	134285	broad.mit.edu	37	5	72419209	72419210	+	Missense_Mutation	DNP	TG	TG	GC			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr5:72419209_72419210TG>GC	ENST00000454765.2	+	2	482_483	c.9_10TG>GC	c.(7-12)ccTGca>ccGCca	p.A4P	TMEM171_ENST00000287773.5_Missense_Mutation_p.A4P			Q8WVE6	TM171_HUMAN	transmembrane protein 171	4						integral component of membrane (GO:0016021)		p.A4P(2)|p.P3P(1)		endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		ACATGTCTCCTGCAGCTGCTGC	0.55																																					NSCLC(112;638 2280 27369 30736)	uc003kcm.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(7-9)CCT>CCG|c.(10-12)GCA>CCA		transmembrane protein 171 isoform 1																																				SO:0001583	missense	134285					integral to membrane		g.chr5:72419209T>G|g.chr5:72419210G>C	BC018083	CCDS4017.1, CCDS54869.1	5q13.2	2008-02-05			ENSG00000157111	ENSG00000157111			27031	protein-coding gene	gene with protein product						12477932	Standard	NM_173490		Approved	PRP2	uc003kcm.2	Q8WVE6	OTTHUMG00000131269	Exception_encountered	5.37:g.72419209_72419210delinsGC	ENSP00000415030:p.Ala4Pro					TMEM171_uc003kcn.3_Silent_p.P3P|TMEM171_uc003kcn.3_Missense_Mutation_p.A4P	p.P3P|p.A4P	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)	2	213|214	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	3|4					Q8N0S1|Q8TDT7	Silent|Missense_Mutation	SNP	ENST00000454765.2	37	c.9T>G|c.10G>C	CCDS4017.1																																																																																				PASS	0.550	TMEM171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254037.2	NM_173490		64|67	22	64	22	---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79033024	79033024	+	Silent	SNP	G	G	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr5:79033024G>C	ENST00000446378.2	+	2	8467	c.8436G>C	c.(8434-8436)ctG>ctC	p.L2812L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2812					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.L2812L(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CATATTTGCTGTCACCTGTAA	0.403																																						uc003kgc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|pancreas(2)|lung(1)	9						c.(8434-8436)CTG>CTC		cardiomyopathy associated 5							31.0	32.0	32.0					5																	79033024		1840	4084	5924	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79033024G>C	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.8436G>C	5.37:g.79033024G>C							p.L2812L	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	8508	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2812					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.8436G>C	CCDS47238.1																																																																																				PASS	0.403	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		7	3	7	3	---	---	---	---
ANKRD34B	340120	broad.mit.edu	37	5	79854635	79854635	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr5:79854635A>G	ENST00000338682.3	-	5	1876	c.1204T>C	c.(1204-1206)Tcc>Ccc	p.S402P		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	402						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S402P(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		GACAATTGGGAAGGAGATGGT	0.483																																						uc010jam.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1204-1206)TCC>CCC		ankyrin repeat domain 34B							73.0	78.0	76.0					5																	79854635		2203	4300	6503	SO:0001583	missense	340120					cytoplasm|nucleus		g.chr5:79854635A>G		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.1204T>C	5.37:g.79854635A>G	ENSP00000339802:p.Ser402Pro					ANKRD34B_uc003kgw.2_Missense_Mutation_p.S402P|ANKRD34B_uc010jan.2_Missense_Mutation_p.S402P	p.S402P	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	4	1554	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	402					B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	37	c.1204T>C	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	A	0.643	-0.812409	0.02798	.	.	ENSG00000189127	ENST00000338682	T	0.21031	2.03	5.43	1.64	0.23874	.	0.446033	0.18812	N	0.130465	T	0.14743	0.0356	L	0.51422	1.61	0.21499	N	0.999661	B	0.15141	0.012	B	0.09377	0.004	T	0.22836	-1.0205	10	0.44086	T	0.13	.	1.0946	0.01670	0.4173:0.1684:0.0912:0.3231	.	402	A5PLL1	AN34B_HUMAN	P	402	ENSP00000339802:S402P	ENSP00000339802:S402P	S	-	1	0	ANKRD34B	79890391	0.222000	0.23652	0.152000	0.22495	0.001000	0.01503	0.901000	0.28445	0.471000	0.27319	-1.411000	0.01122	TCC		PASS	0.483	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		17	23	17	23	---	---	---	---
MEF2C	4208	broad.mit.edu	37	5	88100564	88100564	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr5:88100564C>A	ENST00000437473.2	-	3	526	c.109G>T	c.(109-111)Gtg>Ttg	p.V37L	MEF2C_ENST00000514028.1_Missense_Mutation_p.V37L|MEF2C_ENST00000424173.2_Missense_Mutation_p.V37L|MEF2C_ENST00000508569.1_Missense_Mutation_p.V37L|MEF2C_ENST00000340208.5_Missense_Mutation_p.V37L|MEF2C_ENST00000514015.1_Missense_Mutation_p.V37L|MEF2C_ENST00000539796.1_Missense_Mutation_p.V37L|MEF2C_ENST00000506554.1_Missense_Mutation_p.V37L|MEF2C_ENST00000504921.2_Missense_Mutation_p.V37L|MEF2C_ENST00000510942.1_Missense_Mutation_p.V37L	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	37	MADS-box. {ECO:0000255|PROSITE- ProRule:PRU00251}.				apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V37L(3)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TCACACAGCACGCTCAGCTCA	0.418										HNSCC(66;0.2)																												uc003kjj.2																			3	Substitution - Missense(3)		lung(3)	lung(3)|breast(2)|ovary(1)|large_intestine(1)	7						c.(109-111)GTG>TTG		myocyte enhancer factor 2C isoform 1							150.0	138.0	142.0					5																	88100564		2203	4300	6503	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88100564C>A	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.109G>T	5.37:g.88100564C>A	ENSP00000396219:p.Val37Leu	HNSCC(66;0.2)				MEF2C_uc003kji.2_Missense_Mutation_p.V37L|MEF2C_uc003kjk.2_Missense_Mutation_p.V37L|MEF2C_uc003kjm.2_Missense_Mutation_p.V37L|MEF2C_uc003kjl.2_Missense_Mutation_p.V37L	p.V37L	NM_002397	NP_002388	Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	3	782	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	37			MADS-box.		C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.109G>T	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	C	36	5.652081	0.96714	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252;ENST00000506716;ENST00000507984;ENST00000502983;ENST00000508610;ENST00000502831;ENST00000503075	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27	5.65	5.65	0.86999	Transcription factor, MADS-box (6);	0.000000	0.85682	D	0.000000	D	0.93083	0.7798	M	0.66297	2.02	0.80722	D	1	D;D;D;P	0.89917	1.0;0.993;0.992;0.714	D;D;D;B	0.81914	0.995;0.919;0.992;0.405	D	0.93286	0.6664	10	0.87932	D	0	-7.5495	19.7244	0.96157	0.0:1.0:0.0:0.0	.	37;37;37;37	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	L	37	ENSP00000340874:V37L;ENSP00000389610:V37L;ENSP00000421925:V37L;ENSP00000426665:V37L;ENSP00000396219:V37L;ENSP00000422390:V37L;ENSP00000425636:V37L;ENSP00000423597:V37L;ENSP00000424606:V37L;ENSP00000441153:V37L;ENSP00000423826:V37L;ENSP00000423656:V37L;ENSP00000424331:V37L;ENSP00000427163:V37L;ENSP00000426442:V37L;ENSP00000427286:V37L;ENSP00000426465:V37L	ENSP00000340874:V37L	V	-	1	0	MEF2C	88136320	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.659000	0.90383	0.655000	0.94253	GTG		PASS	0.418	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		25	6	25	6	---	---	---	---
PCDHB2	56133	broad.mit.edu	37	5	140475550	140475550	+	Silent	SNP	T	T	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr5:140475550T>C	ENST00000194155.4	+	1	1324	c.1176T>C	c.(1174-1176)ccT>ccC	p.P392P		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	392	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P392P(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGATCTTCCTTTTTTCTTGA	0.483																																						uc003lil.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(1174-1176)CCT>CCC		protocadherin beta 2 precursor							106.0	97.0	100.0					5																	140475550		2203	4300	6503	SO:0001819	synonymous_variant	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475550T>C	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1176T>C	5.37:g.140475550T>C						PCDHB2_uc003lim.1_Silent_p.P53P	p.P392P	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1314	+			392			Extracellular (Potential).|Cadherin 4.		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.1176T>C	CCDS4244.1																																																																																				PASS	0.483	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		18	31	18	31	---	---	---	---
RNF145	153830	broad.mit.edu	37	5	158585996	158585996	+	Silent	SNP	T	T	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr5:158585996T>G	ENST00000424310.2	-	11	2033	c.1674A>C	c.(1672-1674)gcA>gcC	p.A558A	RNF145_ENST00000519865.1_Silent_p.A558A|RNF145_ENST00000518802.1_Silent_p.A588A|RNF145_ENST00000274542.2_Silent_p.A586A|RNF145_ENST00000520638.1_Silent_p.A572A|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000521606.2_Silent_p.A575A	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	558						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.A586A(1)		endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAAGACAGCCTGCATGGAAAA	0.448																																						uc003lxp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(1672-1674)GCA>GCC		ring finger protein 145							49.0	51.0	51.0					5																	158585996		2202	4295	6497	SO:0001819	synonymous_variant	153830					integral to membrane	zinc ion binding	g.chr5:158585996T>G	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.1674A>C	5.37:g.158585996T>G						RNF145_uc011ddy.1_Silent_p.A572A|RNF145_uc003lxo.1_Silent_p.A586A|RNF145_uc011ddz.1_Silent_p.A575A|RNF145_uc010jiq.1_Silent_p.A588A	p.A558A	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1987	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	558			RING-type; atypical.		B7Z903|B7Z949|E7EVI7|Q8IVP7	Silent	SNP	ENST00000424310.2	37	c.1674A>C	CCDS56390.1																																																																																				PASS	0.448	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		40	4	40	4	---	---	---	---
UNC5A	90249	broad.mit.edu	37	5	176306396	176306396	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr5:176306396T>C	ENST00000329542.4	+	14	2544	c.2270T>C	c.(2269-2271)tTc>tCc	p.F757S	UNC5A_ENST00000261961.3_Missense_Mutation_p.F717S	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	757					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F757S(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGATCCCCTTCCTCATTCGG	0.637																																						uc003mey.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2269-2271)TTC>TCC		netrin receptor Unc5h1 precursor							79.0	89.0	86.0					5																	176306396		2203	4300	6503	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176306396T>C	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.2270T>C	5.37:g.176306396T>C	ENSP00000332737:p.Phe757Ser						p.F757S	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	2462	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	757			Cytoplasmic (Potential).		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.2270T>C	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	T	17.43	3.388754	0.61956	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.21361	2.01;2.01	5.15	5.15	0.70609	Death (1);DEATH-like (2);	0.067187	0.64402	D	0.000007	T	0.17492	0.0420	L	0.33485	1.01	0.44454	D	0.997389	B	0.11235	0.004	B	0.12837	0.008	T	0.03863	-1.0997	10	0.29301	T	0.29	-46.0583	13.9549	0.64142	0.0:0.0:0.0:1.0	.	757	Q6ZN44	UNC5A_HUMAN	S	757;717	ENSP00000332737:F757S;ENSP00000261961:F717S	ENSP00000261961:F717S	F	+	2	0	UNC5A	176239002	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.877000	0.56123	2.163000	0.67991	0.459000	0.35465	TTC		PASS	0.637	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		138	27	138	27	---	---	---	---
LRRC16A	55604	broad.mit.edu	37	6	25619690	25619691	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:25619690_25619691GG>TT	ENST00000329474.6	+	37	4363_4364	c.3995_3996GG>TT	c.(3994-3996)tGG>tTT	p.W1332F	LRRC16A_ENST00000476458.1_3'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1332					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)	p.W1287F(1)|p.W1287C(1)|p.W1287L(1)|p.W1332L(1)|p.W1332F(1)|p.W1332C(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGGAGAAGCTGGGGCCAGCAGG	0.475																																						uc011djw.1																			6	Substitution - Missense(6)		lung(6)	ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(3994-3996)TGG>TTG|c.(3994-3996)TGG>TGT		leucine rich repeat containing 16A																																				SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25619690G>T|g.chr6:25619691G>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	Exception_encountered	6.37:g.25619690_25619691delinsTT	ENSP00000331983:p.Trp1332Phe					LRRC16A_uc010jpx.2_Missense_Mutation_p.W1287L|LRRC16A_uc010jpy.2_Missense_Mutation_p.W1326L|LRRC16A_uc010jpx.2_Missense_Mutation_p.W1287C|LRRC16A_uc010jpy.2_Missense_Mutation_p.W1326C	p.W1332L|p.W1332C	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN			37	4371|4372	+			1332					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.3995G>T|c.3996G>T	CCDS54973.1																																																																																				PASS	0.475	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		38	4|5	38	4	---	---	---	---
C6orf47	57827	broad.mit.edu	37	6	31627280	31627280	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:31627280C>T	ENST00000375911.1	-	1	1269	c.445G>A	c.(445-447)Ggt>Agt	p.G149S	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	149						cytoplasm (GO:0005737)		p.G149S(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						TCACGCCTACCAGGTTTCTCC	0.632																																						uc003nvm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(445-447)GGT>AGT		G4 protein							61.0	72.0	68.0					6																	31627280		1509	2708	4217	SO:0001583	missense	57827							g.chr6:31627280C>T	AF129756	CCDS34399.1	6p21.3	2011-12-13			ENSG00000204439	ENSG00000204439			19076	protein-coding gene	gene with protein product						2477242	Standard	NM_021184		Approved	D6S53E, G4	uc003nvm.1	O95873	OTTHUMG00000031172	ENST00000375911.1:c.445G>A	6.37:g.31627280C>T	ENSP00000365076:p.Gly149Ser						p.G149S	NM_021184	NP_067007	O95873	CF047_HUMAN			1	1270	-			149					B0UXA1|B0UZ50|Q5SSS6|Q95IG0	Missense_Mutation	SNP	ENST00000375911.1	37	c.445G>A	CCDS34399.1	.	.	.	.	.	.	.	.	.	.	C	9.288	1.049873	0.19827	.	.	ENSG00000204439	ENST00000375911;ENST00000538106	T	0.30714	1.52	5.79	0.752	0.18398	.	0.454009	0.19122	N	0.122152	T	0.10766	0.0263	L	0.60455	1.87	0.09310	N	1	B	0.30709	0.291	B	0.26202	0.067	T	0.16867	-1.0388	10	0.39692	T	0.17	-3.8224	8.064	0.30651	0.0:0.5426:0.0:0.4574	.	149	O95873	CF047_HUMAN	S	149	ENSP00000365076:G149S	ENSP00000365076:G149S	G	-	1	0	C6orf47	31735259	0.007000	0.16637	0.039000	0.18376	0.360000	0.29518	0.081000	0.14823	0.059000	0.16252	0.655000	0.94253	GGT		PASS	0.632	C6orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076324.1	NM_021184		70	137	70	137	---	---	---	---
ANKS1A	23294	broad.mit.edu	37	6	34985263	34985263	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:34985263C>A	ENST00000360359.3	+	11	1575	c.1437C>A	c.(1435-1437)agC>agA	p.S479R	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	479					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.S479R(1)		cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ACAGGCGGAGCAGCAGCAGCC	0.577																																						uc003ojx.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(1435-1437)AGC>AGA		ankyrin repeat and sterile alpha motif domain							30.0	38.0	35.0					6																	34985263		2194	4288	6482	SO:0001583	missense	23294					cytoplasm	protein binding	g.chr6:34985263C>A	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1437C>A	6.37:g.34985263C>A	ENSP00000353518:p.Ser479Arg					ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Missense_Mutation_p.S19R|ANKS1A_uc010jvp.1_Intron	p.S479R	NM_015245	NP_056060	Q92625	ANS1A_HUMAN			11	1579	+			479					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	c.1437C>A	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619364	0.28801	.	.	ENSG00000064999	ENST00000360359	T	0.55413	0.52	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000014	T	0.58061	0.2096	L	0.44542	1.39	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.56679	-0.7939	10	0.42905	T	0.14	-20.4327	16.9636	0.86279	0.0:1.0:0.0:0.0	.	479	Q92625	ANS1A_HUMAN	R	479	ENSP00000353518:S479R	ENSP00000353518:S479R	S	+	3	2	ANKS1A	35093241	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.793000	0.47845	2.510000	0.84645	0.655000	0.94253	AGC		PASS	0.577	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		112	68	112	68	---	---	---	---
SRPK1	6732	broad.mit.edu	37	6	35837488	35837488	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:35837488T>A	ENST00000373825.2	-	11	1467	c.1182A>T	c.(1180-1182)gaA>gaT	p.E394D	SRPK1_ENST00000423325.2_Missense_Mutation_p.E378D|SRPK1_ENST00000373822.1_Missense_Mutation_p.E287D					SRSF protein kinase 1									p.E394D(1)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GGAAACTAGATTCCTGATTCA	0.378																																					NSCLC(31;67 978 16289 24856 26454)	uc003olj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1180-1182)GAA>GAT		SFRS protein kinase 1							145.0	137.0	139.0					6																	35837488		1933	4129	6062	SO:0001583	missense	6732				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr6:35837488T>A	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.1182A>T	6.37:g.35837488T>A	ENSP00000362931:p.Glu394Asp					SRPK1_uc011dtg.1_Missense_Mutation_p.E378D|SRPK1_uc003olh.2_Missense_Mutation_p.E287D|SRPK1_uc003oli.2_Missense_Mutation_p.E287D	p.E394D	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN			11	1305	-			394			Protein kinase.			Missense_Mutation	SNP	ENST00000373825.2	37	c.1182A>T	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	T	12.80	2.047871	0.36085	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822;ENST00000510290	T;T;T;T	0.28895	1.6;1.59;1.59;1.65	5.66	4.49	0.54785	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.13243	0.0321	L	0.41124	1.26	0.37866	D	0.929883	B;P	0.45957	0.255;0.869	B;B	0.41271	0.023;0.352	T	0.03259	-1.1055	9	0.56958	D	0.05	-19.0628	8.508	0.33199	0.0:0.1638:0.0:0.8362	.	378;394	B4DS61;Q96SB4	.;SRPK1_HUMAN	D	394;410;378;287;132	ENSP00000362931:E394D;ENSP00000354674:E410D;ENSP00000391069:E378D;ENSP00000362928:E287D	ENSP00000354674:E410D	E	-	3	2	SRPK1	35945466	0.956000	0.32656	0.999000	0.59377	0.966000	0.64601	0.414000	0.21164	1.071000	0.40834	0.533000	0.62120	GAA		PASS	0.378	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137		25	20	25	20	---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46656442	46656442	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:46656442G>T	ENST00000316081.6	+	1	577	c.577G>T	c.(577-579)Gag>Tag	p.E193*	RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Nonsense_Mutation_p.E193*	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	193					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.E193*(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			ACAGATGCGGGAGCTGGGCCT	0.672																																						uc003oyj.2																			1	Substitution - Nonsense(1)		lung(1)	breast(3)|ovary(2)|skin(1)	6						c.(577-579)GAG>TAG		tudor domain containing 6							47.0	55.0	52.0					6																	46656442		2201	4300	6501	SO:0001587	stop_gained	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46656442G>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.577G>T	6.37:g.46656442G>T	ENSP00000346065:p.Glu193*					TDRD6_uc010jze.2_Nonsense_Mutation_p.E187*	p.E193*	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	577	+			193					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Nonsense_Mutation	SNP	ENST00000316081.6	37	c.577G>T	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364890	0.61513	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	.	.	.	5.97	3.19	0.36642	.	0.269668	0.41605	D	0.000844	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-6.7491	8.3256	0.32156	0.1398:0.2953:0.5649:0.0	.	.	.	.	X	193	.	ENSP00000346065:E193X	E	+	1	0	TDRD6	46764401	1.000000	0.71417	0.991000	0.47740	0.280000	0.26924	3.405000	0.52630	0.405000	0.25532	0.655000	0.94253	GAG		PASS	0.672	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		6	268	6	268	---	---	---	---
PTCHD4	442213	broad.mit.edu	37	6	47976433	47976433	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:47976433T>C	ENST00000339488.4	-	2	877	c.844A>G	c.(844-846)Atc>Gtc	p.I282V	PTCHD4_ENST00000543600.1_Missense_Mutation_p.I265V	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	282	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.					integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.I282V(1)									ATGAAGAAGATCCCTGCTGCT	0.542																																						uc011dwm.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(793-795)ATC>GTC		hypothetical protein LOC442213							59.0	58.0	59.0					6																	47976433		2034	4188	6222	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47976433T>C		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.844A>G	6.37:g.47976433T>C	ENSP00000341914:p.Ile282Val					C6orf138_uc011dwn.1_Missense_Mutation_p.I29V|C6orf138_uc003ozf.2_Missense_Mutation_p.I282V	p.I265V	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			2	878	-			282			Helical; (Potential).|SSD.		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.793A>G	CCDS34473.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.12|19.12	3.766358|3.766358	0.69878|0.69878	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000398738|ENST00000339488;ENST00000543600	.|D;D	.|0.85088	.|-1.94;-1.94	6.1|6.1	4.93|4.93	0.64822|0.64822	.|Sterol-sensing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86785|0.86785	0.6016|0.6016	M|M	0.66939|0.66939	2.045|2.045	0.58432|0.58432	D|D	0.999992|0.999992	.|D;B	.|0.61697	.|0.99;0.122	.|D;B	.|0.66497	.|0.944;0.079	D|D	0.85792|0.85792	0.1368|0.1368	5|10	.|0.33940	.|T	.|0.23	.|.	12.3151|12.3151	0.54951|0.54951	0.0:0.0658:0.0:0.9342|0.0:0.0658:0.0:0.9342	.|.	.|282;265	.|Q6ZW05;B0QZ29	.|CF138_HUMAN;.	G|V	281|282;265	.|ENSP00000341914:I282V;ENSP00000439864:I265V	.|ENSP00000341914:I282V	D|I	-|-	2|1	0|0	C6orf138|C6orf138	48084392|48084392	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	5.983000|5.983000	0.70540|0.70540	1.123000|1.123000	0.41961|0.41961	0.528000|0.528000	0.53228|0.53228	GAT|ATC		PASS	0.542	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		10	26	10	26	---	---	---	---
TFAP2B	7021	broad.mit.edu	37	6	50803938	50803938	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:50803938C>G	ENST00000393655.3	+	4	935	c.766C>G	c.(766-768)Cgg>Ggg	p.R256G	TFAP2B_ENST00000263046.4_Missense_Mutation_p.R265G	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	256					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R256G(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AGTTCAGAGACGGCTGTCGCC	0.498																																					Pancreas(116;1373 2332 5475 10752)	uc003pag.2																			1	Substitution - Missense(1)		lung(1)		0						c.(766-768)CGG>GGG		transcription factor AP-2 beta							57.0	54.0	55.0					6																	50803938		2203	4300	6503	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50803938C>G	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.766C>G	6.37:g.50803938C>G	ENSP00000377265:p.Arg256Gly						p.R256G	NM_003221	NP_003212	Q92481	AP2B_HUMAN			4	932	+	Lung NSC(77;0.156)		256					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.766C>G	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392098	0.42410	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.99032	-5.35;-5.35	5.44	3.61	0.41365	Transcription factor AP-2, C-terminal (1);	0.109437	0.64402	D	0.000016	D	0.99162	0.9710	M	0.92604	3.325	0.58432	D	0.999995	D	0.69078	0.997	D	0.79784	0.993	D	0.99686	1.1000	10	0.87932	D	0	-12.5531	8.0974	0.30837	0.2894:0.6377:0.0:0.0729	.	256	Q92481	AP2B_HUMAN	G	256;265	ENSP00000377265:R256G;ENSP00000263046:R265G	ENSP00000263046:R265G	R	+	1	2	TFAP2B	50911897	1.000000	0.71417	0.998000	0.56505	0.338000	0.28826	2.714000	0.47202	0.625000	0.30304	-0.157000	0.13467	CGG		PASS	0.498	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		8	56	8	56	---	---	---	---
BACH2	60468	broad.mit.edu	37	6	90660874	90660874	+	Silent	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:90660874G>A	ENST00000257749.4	-	7	1658	c.951C>T	c.(949-951)gcC>gcT	p.A317A	RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Silent_p.A317A|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Silent_p.A317A	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	317						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.A317A(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TGGGGGTAGGGGCAGGGCTGG	0.627																																						uc011eab.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|pancreas(1)|lung(1)|skin(1)	6						c.(949-951)GCC>GCT		BTB and CNC homology 1, basic leucine zipper							32.0	33.0	33.0					6																	90660874		2203	4300	6503	SO:0001819	synonymous_variant	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90660874G>A	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.951C>T	6.37:g.90660874G>A						BACH2_uc003pnw.2_Silent_p.A317A|BACH2_uc010kch.2_Silent_p.A317A	p.A317A	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	7	1760	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	317					E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	ENST00000257749.4	37	c.951C>T	CCDS5026.1																																																																																				PASS	0.627	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		38	60	38	60	---	---	---	---
BEND3	57673	broad.mit.edu	37	6	107390285	107390285	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:107390285C>A	ENST00000369042.1	-	4	2300	c.2110G>T	c.(2110-2112)Gac>Tac	p.D704Y	BEND3_ENST00000429433.2_Missense_Mutation_p.D704Y			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	704								p.D704Y(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						ACCAGCTCGTCCAAGGGGATC	0.627																																						uc003prs.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2110-2112)GAC>TAC		BEN domain containing 3							49.0	52.0	51.0					6																	107390285		2203	4300	6503	SO:0001583	missense	57673							g.chr6:107390285C>A	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.2110G>T	6.37:g.107390285C>A	ENSP00000358038:p.Asp704Tyr						p.D704Y	NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN			5	2760	-			704					A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	37	c.2110G>T	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375419	0.61735	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.53578	0.1805	N	0.24115	0.695	0.80722	D	1	D	0.67145	0.996	P	0.57371	0.819	T	0.60414	-0.7268	9	0.72032	D	0.01	-5.2813	19.4795	0.95003	0.0:1.0:0.0:0.0	.	704	Q5T5X7	BEND3_HUMAN	Y	704	.	ENSP00000358038:D704Y	D	-	1	0	BEND3	107496978	1.000000	0.71417	0.985000	0.45067	0.643000	0.38383	7.440000	0.80464	2.599000	0.87857	0.455000	0.32223	GAC		PASS	0.627	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		127	108	127	108	---	---	---	---
NR2E1	7101	broad.mit.edu	37	6	108497813	108497813	+	Silent	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:108497813G>A	ENST00000368986.4	+	4	1074	c.366G>A	c.(364-366)tcG>tcA	p.S122S	NR2E1_ENST00000368983.3_Silent_p.S159S|NR2E1_ENST00000484978.1_3'UTR	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	122					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S122S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		ACTTTCCCTCGGCGGCGCTCC	0.711																																						uc003psg.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(364-366)TCG>TCA		nuclear receptor subfamily 2, group E, member 1							21.0	22.0	22.0					6																	108497813		2201	4297	6498	SO:0001819	synonymous_variant	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108497813G>A	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.366G>A	6.37:g.108497813G>A							p.S122S	NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	4	1121	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	122					Q6ZMP8	Silent	SNP	ENST00000368986.4	37	c.366G>A	CCDS5063.1																																																																																				PASS	0.711	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			32	52	32	52	---	---	---	---
PTPRK	5796	broad.mit.edu	37	6	128388874	128388874	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:128388874C>T	ENST00000368215.3	-	12	1946	c.1947G>A	c.(1945-1947)atG>atA	p.M649I	PTPRK_ENST00000368213.5_Missense_Mutation_p.M649I|PTPRK_ENST00000532331.1_Missense_Mutation_p.M649I|PTPRK_ENST00000368226.4_Missense_Mutation_p.M649I|PTPRK_ENST00000368210.3_Missense_Mutation_p.M649I|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368227.3_Missense_Mutation_p.M649I|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368207.3_Missense_Mutation_p.M649I			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	649	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.M649I(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GGTAGCATTCCATGGCTCCGG	0.483																																						uc003qbk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8						c.(1945-1947)ATG>ATA		protein tyrosine phosphatase, receptor type, K							86.0	90.0	89.0					6																	128388874		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128388874C>T	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1947G>A	6.37:g.128388874C>T	ENSP00000357198:p.Met649Ile					PTPRK_uc003qbj.2_Missense_Mutation_p.M649I|PTPRK_uc010kfc.2_Missense_Mutation_p.M649I|PTPRK_uc011ebu.1_Missense_Mutation_p.M649I|PTPRK_uc003qbl.1_Missense_Mutation_p.M519I|PTPRK_uc011ebv.1_Missense_Mutation_p.M649I	p.M649I	NM_002844	NP_002835	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	12	2314	-			649			Extracellular (Potential).|Fibronectin type-III 4.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.1947G>A		.	.	.	.	.	.	.	.	.	.	C	13.85	2.360153	0.41801	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.07567	3.19;3.18;3.18;3.19;3.18;3.19;3.18	5.93	5.93	0.95920	.	0.251235	0.48767	D	0.000163	T	0.02156	0.0067	N	0.03608	-0.345	0.45087	D	0.998103	B;B;B;B;B;B	0.26002	0.038;0.017;0.03;0.139;0.004;0.007	B;B;B;B;B;B	0.29524	0.016;0.028;0.038;0.103;0.005;0.01	T	0.53823	-0.8384	10	0.15952	T	0.53	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	649;649;649;506;649;649	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	I	649;649;649;649;649;649;649;506	ENSP00000357209:M649I;ENSP00000357210:M649I;ENSP00000432973:M649I;ENSP00000357196:M649I;ENSP00000357193:M649I;ENSP00000357198:M649I;ENSP00000357190:M649I	ENSP00000357190:M649I	M	-	3	0	PTPRK	128430567	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.381000	0.52455	2.814000	0.96858	0.655000	0.94253	ATG		PASS	0.483	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			7	152	7	152	---	---	---	---
TAAR2	9287	broad.mit.edu	37	6	132938669	132938669	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:132938669C>A	ENST00000367931.1	-	2	675	c.676G>T	c.(676-678)Gtg>Ttg	p.V226L	TAAR2_ENST00000275191.2_Missense_Mutation_p.V181L|TAAR2_ENST00000537809.1_Missense_Mutation_p.V181L			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	226					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.V226L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		TAAATCCCCACCATCATAGAC	0.413																																						uc003qdl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(676-678)GTG>TTG		trace amine associated receptor 2 isoform 1							73.0	68.0	70.0					6																	132938669		2203	4300	6503	SO:0001583	missense	9287					plasma membrane	G-protein coupled receptor activity	g.chr6:132938669C>A	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.676G>T	6.37:g.132938669C>A	ENSP00000356908:p.Val226Leu					TAAR2_uc010kfr.1_Missense_Mutation_p.V181L	p.V226L	NM_001033080	NP_001028252	Q9P1P5	TAAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)	2	676	-	Breast(56;0.135)		226			Helical; Name=5; (Potential).		Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	ENST00000367931.1	37	c.676G>T	CCDS34541.1	.	.	.	.	.	.	.	.	.	.	C	9.120	1.008720	0.19199	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	T;T;T	0.69685	-0.42;-0.42;-0.42	6.0	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.251004	0.31909	N	0.006861	T	0.25938	0.0632	N	0.25094	0.71	0.35678	D	0.813882	B	0.25105	0.118	B	0.25140	0.058	T	0.12400	-1.0549	10	0.21540	T	0.41	-34.0301	2.4849	0.04596	0.1279:0.4454:0.2489:0.1779	.	226	Q9P1P5	TAAR2_HUMAN	L	181;226;181	ENSP00000275191:V181L;ENSP00000356908:V226L;ENSP00000441263:V181L	ENSP00000275191:V181L	V	-	1	0	TAAR2	132980362	0.995000	0.38212	1.000000	0.80357	0.970000	0.65996	0.362000	0.20284	1.504000	0.48704	0.650000	0.86243	GTG		PASS	0.413	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		26	25	26	25	---	---	---	---
MAP7	9053	broad.mit.edu	37	6	136683634	136683634	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:136683634T>C	ENST00000354570.3	-	11	1890	c.1480A>G	c.(1480-1482)Aga>Gga	p.R494G	RP3-406A7.3_ENST00000571188.1_RNA|MAP7_ENST00000438100.2_Missense_Mutation_p.R479G|MAP7_ENST00000454590.1_Missense_Mutation_p.R516G|MAP7_ENST00000432797.2_Missense_Mutation_p.R348G|MAP7_ENST00000544465.1_Missense_Mutation_p.R479G	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	494					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.R494G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TCCTTTTCTCTCTGCTCTCGG	0.522																																						uc003qgz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1480-1482)AGA>GGA		microtubule-associated protein 7							162.0	159.0	160.0					6																	136683634		2203	4300	6503	SO:0001583	missense	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136683634T>C	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1480A>G	6.37:g.136683634T>C	ENSP00000346581:p.Arg494Gly					MAP7_uc011edf.1_Missense_Mutation_p.R479G|MAP7_uc011edg.1_Missense_Mutation_p.R524G|MAP7_uc010kgu.2_Missense_Mutation_p.R516G|MAP7_uc011edh.1_Missense_Mutation_p.R479G|MAP7_uc010kgv.2_Missense_Mutation_p.R516G|MAP7_uc010kgs.2_Missense_Mutation_p.R348G|MAP7_uc011edi.1_Missense_Mutation_p.R348G|MAP7_uc010kgq.1_Missense_Mutation_p.R400G|MAP7_uc003qha.1_Missense_Mutation_p.R457G	p.R494G	NM_003980	NP_003971	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	11	1726	-	Colorectal(23;0.24)		494			Potential.		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	c.1480A>G	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.222043	0.58560	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	5.94	3.53	0.40419	.	0.000000	0.64402	D	0.000016	T	0.50480	0.1618	M	0.87682	2.9	0.48762	D	0.999703	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.998;0.998;0.997;0.998;0.997;0.997;0.998	T	0.61879	-0.6972	10	0.66056	D	0.02	-17.5178	13.6686	0.62412	0.0:0.0:0.4029:0.5971	.	479;516;479;516;400;457;494	B7Z290;B7ZB64;F5H1E2;E9PCP3;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	G	494;516;479;479;348;400	ENSP00000346581:R494G;ENSP00000414712:R516G;ENSP00000445737:R479G;ENSP00000400790:R479G;ENSP00000414879:R348G	ENSP00000344217:R400G	R	-	1	2	MAP7	136725327	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.657000	0.46724	1.137000	0.42214	0.455000	0.32223	AGA		PASS	0.522	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		6	240	6	240	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152557956	152557956	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:152557956T>C	ENST00000367255.5	-	109	20796	c.20195A>G	c.(20194-20196)tAc>tGc	p.Y6732C	SYNE1_ENST00000356820.4_Missense_Mutation_p.Y1256C|SYNE1_ENST00000448038.1_Missense_Mutation_p.Y6661C|SYNE1_ENST00000265368.4_Missense_Mutation_p.Y6732C|SYNE1_ENST00000341594.5_Missense_Mutation_p.Y6344C|SYNE1_ENST00000423061.1_Missense_Mutation_p.Y6661C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6732					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.Y6732C(2)|p.Y6661C(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCAACCTGGTAGAGTGTTAT	0.448										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(20194-20196)TAC>TGC		spectrin repeat containing, nuclear envelope 1							128.0	102.0	111.0					6																	152557956		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152557956T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20195A>G	6.37:g.152557956T>C	ENSP00000356224:p.Tyr6732Cys	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.Y1256C|SYNE1_uc003qos.3_Missense_Mutation_p.Y1256C|SYNE1_uc003qot.3_Missense_Mutation_p.Y6661C|SYNE1_uc003qou.3_Missense_Mutation_p.Y6732C	p.Y6732C	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	109	20797	-		Ovarian(120;0.0955)	6732			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.20195A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081179	0.55753	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33	5.57	5.57	0.84162	.	0.360661	0.23947	N	0.042992	T	0.47078	0.1426	M	0.73217	2.22	0.46222	D	0.99893	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70935	0.935;0.935;0.971	T	0.53933	-0.8368	10	0.72032	D	0.01	.	10.0716	0.42337	0.2499:0.0:0.0:0.7501	.	6732;6732;6661	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	C	6732;6661;6732;6661;6344;1256	ENSP00000356224:Y6732C;ENSP00000396024:Y6661C;ENSP00000265368:Y6732C;ENSP00000390975:Y6661C;ENSP00000341887:Y6344C;ENSP00000349276:Y1256C	ENSP00000265368:Y6732C	Y	-	2	0	SYNE1	152599649	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	4.799000	0.62517	2.121000	0.65114	0.533000	0.62120	TAC		PASS	0.448	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		35	23	35	23	---	---	---	---
TRGC1	6966	broad.mit.edu	37	7	38304988	38304988	+	RNA	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:38304988C>A	ENST00000443402.2	-	0	291					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TTGATCAACTCCGTTTTTATT	0.363																																						uc003tge.1																			0					0						c.(718-720)GGA>GTA		Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds.							142.0	135.0	137.0					7																	38304988		1832	4104	5936			445347							g.chr7:38304988C>A	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38304988C>A						uc003tfz.1_Intron|TARP_uc003tgb.2_Missense_Mutation_p.G36V|TARP_uc003tgc.1_Missense_Mutation_p.G36V|TARP_uc003tgd.1_Missense_Mutation_p.G36V|TARP_uc010kxi.1_RNA|TARP_uc003tgf.1_RNA|TARP_uc003tgj.1_RNA|TARP_uc003tgh.1_RNA|TARP_uc003tgi.1_RNA|TARP_uc003tgg.1_RNA	p.G240V			A2JGV3	A2JGV3_HUMAN			5	1096	-			Error:Variant_position_missing_in_A2JGV3_after_alignment						Missense_Mutation	SNP	ENST00000443402.2	37	c.719G>T																																																																																					PASS	0.363	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		4	28	4	28	---	---	---	---
NPC1L1	29881	broad.mit.edu	37	7	44556465	44556465	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:44556465C>T	ENST00000289547.4	-	17	3492	c.3437G>A	c.(3436-3438)tGc>tAc	p.C1146Y	NPC1L1_ENST00000546276.1_Missense_Mutation_p.C1073Y|NPC1L1_ENST00000381160.3_Missense_Mutation_p.C1119Y	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1146					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.C1146Y(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)	GGGCACAAGGCAGAGGCTGAG	0.587																																						uc003tlb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3436-3438)TGC>TAC		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)						81.0	73.0	76.0					7																	44556465		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.chr7:44556465C>T		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.3437G>A	7.37:g.44556465C>T	ENSP00000289547:p.Cys1146Tyr					NPC1L1_uc003tlc.2_Missense_Mutation_p.C1119Y|NPC1L1_uc011kbw.1_Missense_Mutation_p.C1073Y|NPC1L1_uc003tla.2_Intron	p.C1146Y	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			17	3493	-			1146			Helical; Name=10; (Potential).		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.3437G>A	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239726	0.58995	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.91577	-2.87;-2.87;-2.87	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.94938	0.8363	M	0.76328	2.33	0.48185	D	0.999608	D;D;D	0.89917	0.997;0.994;1.0	D;D;D	0.91635	0.968;0.968;0.999	D	0.95365	0.8459	10	0.72032	D	0.01	-31.7372	16.1637	0.81739	0.0:1.0:0.0:0.0	.	1073;1119;1146	B7ZLE6;Q17RV5;D3DVK9	.;.;.	Y	1146;1119;1073	ENSP00000289547:C1146Y;ENSP00000370552:C1119Y;ENSP00000438033:C1073Y	ENSP00000289547:C1146Y	C	-	2	0	NPC1L1	44522990	1.000000	0.71417	0.695000	0.30226	0.731000	0.41821	3.439000	0.52878	2.387000	0.81309	0.563000	0.77884	TGC		PASS	0.587	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		25	28	25	28	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48284217	48284217	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:48284217C>A	ENST00000435803.1	+	11	1331	c.1307C>A	c.(1306-1308)cCc>cAc	p.P436H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	436					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.P381H(1)|p.P436H(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAAAACCTGCCCCAGTGGCCG	0.408																																						uc003toq.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(1306-1308)CCC>CAC		ATP binding cassette, sub-family A (ABC1),							62.0	62.0	62.0					7																	48284217		1834	4086	5920	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48284217C>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1307C>A	7.37:g.48284217C>A	ENSP00000411096:p.Pro436His					ABCA13_uc010kyr.2_5'UTR	p.P436H	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			11	1332	+			436					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.1307C>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719787	0.68844	.	.	ENSG00000179869	ENST00000435803	D	0.87256	-2.23	5.06	5.06	0.68205	.	0.262894	0.27371	N	0.019675	D	0.87724	0.6249	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	P	0.61397	0.888	D	0.89223	0.3572	10	0.87932	D	0	.	13.9338	0.64012	0.0:1.0:0.0:0.0	.	436	Q86UQ4	ABCAD_HUMAN	H	436	ENSP00000411096:P436H	ENSP00000411096:P436H	P	+	2	0	ABCA13	48254763	0.493000	0.26035	0.996000	0.52242	0.786000	0.44442	2.107000	0.41844	2.338000	0.79540	0.655000	0.94253	CCC		PASS	0.408	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		22	12	22	12	---	---	---	---
POM121L12	285877	broad.mit.edu	37	7	53103566	53103566	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:53103566T>A	ENST00000408890.4	+	1	218	c.202T>A	c.(202-204)Tgg>Agg	p.W68R		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	68								p.W68R(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GTACTTCCAGTGGGGGCGCCC	0.706																																						uc003tpz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(202-204)TGG>AGG		POM121 membrane glycoprotein-like 12							25.0	30.0	28.0					7																	53103566		1927	4137	6064	SO:0001583	missense	285877							g.chr7:53103566T>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.202T>A	7.37:g.53103566T>A	ENSP00000386133:p.Trp68Arg						p.W68R	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	218	+			68					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.202T>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	T	0.148	-1.094361	0.01858	.	.	ENSG00000221900	ENST00000408890	T	0.20463	2.07	1.16	-2.32	0.06745	.	.	.	.	.	T	0.05456	0.0144	N	0.01168	-0.975	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.29701	-1.0003	9	0.39692	T	0.17	.	1.8612	0.03189	0.4025:0.2762:0.0:0.3213	.	68	Q8N7R1	P1L12_HUMAN	R	68	ENSP00000386133:W68R	ENSP00000386133:W68R	W	+	1	0	POM121L12	53071060	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-2.657000	0.00853	-0.729000	0.04875	0.260000	0.18958	TGG		PASS	0.706	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		14	29	14	29	---	---	---	---
LANCL2	55915	broad.mit.edu	37	7	55468869	55468869	+	Silent	SNP	A	A	G	rs148596591		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:55468869A>G	ENST00000254770.2	+	5	1259	c.681A>G	c.(679-681)gtA>gtG	p.V227V		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	227					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.V227V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			CTCTGTAGGTAGTCAATGCTA	0.393																																						uc003tqp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(679-681)GTA>GTG		LanC lantibiotic synthetase component C-like 2		A		0,4406		0,0,2203	121.0	127.0	125.0		681	-0.3	1.0	7	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LANCL2	NM_018697.3		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		227/451	55468869	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55915				negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	g.chr7:55468869A>G	AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"""testis-specific adriamycin sensitivity protein"", ""G protein-coupled receptor 69B"""	612919	"""LanC (bacterial lantibiotic synthetase component C)-like 2"""	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.681A>G	7.37:g.55468869A>G							p.V227V	NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)		5	1259	+	Breast(14;0.0379)		227					B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Silent	SNP	ENST00000254770.2	37	c.681A>G	CCDS5517.1																																																																																				PASS	0.393	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697		37	40	37	40	---	---	---	---
PHKG1	5260	broad.mit.edu	37	7	56151350	56151350	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:56151350C>G	ENST00000297373.2	-	5	570	c.376G>C	c.(376-378)Gaa>Caa	p.E126Q	PHKG1_ENST00000452681.2_Missense_Mutation_p.E158Q|PHKG1_ENST00000489604.1_5'Flank|PHKG1_ENST00000537360.1_Missense_Mutation_p.E72Q	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	126	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)	p.E126Q(1)		endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CACCTGGTTTCCTTCTCACTC	0.587																																					Melanoma(184;580 2064 5329 24177 35303)	uc003trz.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(376-378)GAA>CAA		phosphorylase kinase gamma subunit 1							104.0	77.0	86.0					7																	56151350		2203	4298	6501	SO:0001583	missense	5260				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr7:56151350C>G	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.376G>C	7.37:g.56151350C>G	ENSP00000297373:p.Glu126Gln					PSPH_uc003trj.2_Intron|PHKG1_uc003try.1_Missense_Mutation_p.E20Q|PHKG1_uc011kdb.1_Missense_Mutation_p.E158Q|PHKG1_uc011kdc.1_Missense_Mutation_p.E117Q|PHKG1_uc011kdd.1_Missense_Mutation_p.E72Q	p.E126Q	NM_006213	NP_006204	Q16816	PHKG1_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	571	-	Breast(14;0.214)		126			Protein kinase.		B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	ENST00000297373.2	37	c.376G>C	CCDS5525.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669449	0.67814	.	.	ENSG00000164776	ENST00000452681;ENST00000537360;ENST00000297373;ENST00000446428;ENST00000432123	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.46	5.46	0.80206	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	0.64402	D	0.000002	T	0.68568	0.3015	L	0.48986	1.54	0.80722	D	1	P;P;P;P	0.45240	0.562;0.854;0.537;0.743	B;P;B;B	0.46758	0.219;0.526;0.236;0.381	T	0.65253	-0.6213	10	0.30854	T	0.27	-18.3056	18.6826	0.91551	0.0:1.0:0.0:0.0	.	72;117;158;126	B7Z5U3;B7Z6U2;F5H2S1;Q16816	.;.;.;PHKG1_HUMAN	Q	158;72;126;48;48	ENSP00000445440:E158Q;ENSP00000441528:E72Q;ENSP00000297373:E126Q;ENSP00000389721:E48Q;ENSP00000397193:E48Q	ENSP00000297373:E126Q	E	-	1	0	PHKG1	56118844	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.818000	0.86416	2.744000	0.94065	0.650000	0.86243	GAA		PASS	0.587	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		3	9	3	9	---	---	---	---
WBSCR17	64409	broad.mit.edu	37	7	71036319	71036320	+	Missense_Mutation	DNP	GG	GG	TC			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:71036319_71036320GG>TC	ENST00000333538.5	+	6	1646_1647	c.1012_1013GG>TC	c.(1012-1014)GGt>TCt	p.G338S	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	338	Catalytic subdomain B.				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.G338S(2)|p.G338A(1)|p.G338C(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)				GAAGTTCTTCGGTGAAATTGGT	0.505																																						uc003tvy.2																			4	Substitution - Missense(4)		lung(3)|NS(1)	skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(1012-1014)GGT>TGT|c.(1012-1014)GGT>GCT		UDP-GalNAc:polypeptide																																				SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71036319G>T|g.chr7:71036320G>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	Exception_encountered	7.37:g.71036319_71036320delinsTC	ENSP00000329654:p.Gly338Ser					WBSCR17_uc003tvz.2_Missense_Mutation_p.G37C|WBSCR17_uc003tvz.2_Missense_Mutation_p.G37A	p.G338C|p.G338A	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			6	1012|1013	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	338			Catalytic subdomain B.|Lumenal (Potential).		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.1012G>T|c.1013G>C	CCDS5540.1																																																																																				PASS	0.505	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		78|80	110	78	110	---	---	---	---
HIP1	3092	broad.mit.edu	37	7	75168751	75168751	+	Splice_Site	SNP	C	C	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:75168751C>G	ENST00000336926.6	-	30	2979	c.2953G>C	c.(2953-2955)Gtt>Ctt	p.V985L	HIP1_ENST00000434438.2_Splice_Site_p.V934L	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	985	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.V987L(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						AGCACCCTAACCTGTAAGGGA	0.428			T	PDGFRB	CMML																																	uc003uds.1				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		1	Substitution - Missense(1)		lung(1)	lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						c.(2953-2955)GTT>CTT		huntingtin interacting protein 1							168.0	169.0	169.0					7																	75168751		2203	4300	6503	SO:0001630	splice_region_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.chr7:75168751C>G	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.2953-1G>C	7.37:g.75168751C>G						HIP1_uc011kfz.1_Missense_Mutation_p.V811L	p.V985L	NM_005338	NP_005329	O00291	HIP1_HUMAN			30	2994	-			985			I/LWEQ.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.2953G>C	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	31	5.086626	0.94100	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.50813	0.73;0.73	5.21	5.21	0.72293	I/LWEQ (4);	0.000000	0.85682	D	0.000000	T	0.77831	0.4189	H	0.94345	3.525	0.80722	D	1	D;D	0.76494	0.983;0.999	D;D	0.80764	0.973;0.994	D	0.84268	0.0487	10	0.72032	D	0.01	-22.1217	17.6826	0.88248	0.0:1.0:0.0:0.0	.	934;985	E7ES17;O00291	.;HIP1_HUMAN	L	985;934	ENSP00000336747:V985L;ENSP00000410300:V934L	ENSP00000336747:V985L	V	-	1	0	HIP1	75006687	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.488000	0.81441	2.605000	0.88082	0.655000	0.94253	GTT		PASS	0.428	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338	Missense_Mutation	182	205	182	205	---	---	---	---
TMEM130	222865	broad.mit.edu	37	7	98449145	98449145	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:98449145G>A	ENST00000416379.2	-	6	909	c.905C>T	c.(904-906)aCc>aTc	p.T302I	TMEM130_ENST00000450876.1_Missense_Mutation_p.T218I|TMEM130_ENST00000339375.4_Missense_Mutation_p.T302I|TMEM130_ENST00000345589.4_Missense_Mutation_p.T200I|TMEM130_ENST00000546258.1_Missense_Mutation_p.T283I			Q8N3G9	TM130_HUMAN	transmembrane protein 130	302						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.T302I(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAAGGTGTGGGTCAGGTTGTA	0.607																																						uc003upo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(904-906)ACC>ATC		transmembrane protein 130 isoform a							132.0	95.0	107.0					7																	98449145		2203	4300	6503	SO:0001583	missense	222865					Golgi membrane|integral to membrane		g.chr7:98449145G>A		CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.905C>T	7.37:g.98449145G>A	ENSP00000413163:p.Thr302Ile					TMEM130_uc011kiq.1_Missense_Mutation_p.T283I|TMEM130_uc011kir.1_Missense_Mutation_p.T302I|TMEM130_uc003upn.2_Missense_Mutation_p.T200I	p.T302I	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		6	1094	-	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		302			Extracellular (Potential).		A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Missense_Mutation	SNP	ENST00000416379.2	37	c.905C>T	CCDS47650.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889259	0.72524	.	.	ENSG00000166448	ENST00000416379;ENST00000339375;ENST00000450876;ENST00000345589;ENST00000546258	T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46	5.16	3.2	0.36748	PKD domain (1);	0.181406	0.46758	D	0.000268	T	0.27027	0.0662	L	0.51422	1.61	0.29693	N	0.840789	D;D;D;D	0.69078	0.997;0.994;0.997;0.994	P;P;P;P	0.62184	0.899;0.865;0.899;0.865	T	0.02087	-1.1216	10	0.51188	T	0.08	-33.4123	7.21	0.25929	0.0:0.2939:0.5242:0.1819	.	302;283;302;200	Q8N3G9-2;B7Z2F1;Q8N3G9;Q8N3G9-3	.;.;TM130_HUMAN;.	I	302;302;218;200;283	ENSP00000413163:T302I;ENSP00000341256:T302I;ENSP00000390200:T218I;ENSP00000330262:T200I;ENSP00000445869:T283I	ENSP00000341256:T302I	T	-	2	0	TMEM130	98287081	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	1.009000	0.29886	2.410000	0.81850	0.561000	0.74099	ACC		PASS	0.607	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913		42	59	42	59	---	---	---	---
PUS7	54517	broad.mit.edu	37	7	105148856	105148856	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:105148856A>G	ENST00000356362.2	-	2	318	c.104T>C	c.(103-105)cTg>cCg	p.L35P	PUS7_ENST00000469408.1_Missense_Mutation_p.L35P	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	35					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.L35P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						GCATTCCGACAGCTTCTGTTT	0.493																																					Colon(138;2387 3051 17860)	uc003vcx.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(103-105)CTG>CCG		pseudouridylate synthase 7 homolog							236.0	206.0	216.0					7																	105148856		2203	4300	6503	SO:0001583	missense	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105148856A>G	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.104T>C	7.37:g.105148856A>G	ENSP00000348722:p.Leu35Pro					PUS7_uc010lji.2_Missense_Mutation_p.L35P|PUS7_uc003vcy.2_Missense_Mutation_p.L35P|PUS7_uc003vcz.1_Missense_Mutation_p.L35P	p.L35P	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN			2	323	-			35					Q75MG4|Q9NX19	Missense_Mutation	SNP	ENST00000356362.2	37	c.104T>C	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	A	8.161	0.789579	0.16258	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.50001	0.76;0.76	5.71	4.49	0.54785	.	0.911644	0.09320	N	0.818394	T	0.25754	0.0627	N	0.08118	0	0.09310	N	0.999997	P;P	0.44195	0.828;0.57	B;B	0.30855	0.121;0.121	T	0.08126	-1.0737	10	0.72032	D	0.01	-7.4134	11.8259	0.52267	0.8538:0.1462:0.0:0.0	.	35;35	B3KY42;Q96PZ0	.;PUS7_HUMAN	P	35	ENSP00000348722:L35P;ENSP00000417402:L35P	ENSP00000348722:L35P	L	-	2	0	PUS7	104936092	0.956000	0.32656	0.017000	0.16124	0.023000	0.10783	3.600000	0.54052	2.174000	0.68829	0.459000	0.35465	CTG		PASS	0.493	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		50	133	50	133	---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106515250	106515250	+	Splice_Site	SNP	T	T	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:106515250T>G	ENST00000359195.3	+	5	2701		c.e5+2		PIK3CG_ENST00000496166.1_Splice_Site|PIK3CG_ENST00000440650.2_Splice_Site	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma						adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GCGCTGGCAGTAGGTATCACT	0.438																																						uc003vdv.3																			1	Unknown(1)		lung(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.e5+2		phosphoinositide-3-kinase, catalytic, gamma							60.0	60.0	60.0					7																	106515250		2203	4300	6503	SO:0001630	splice_region_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106515250T>G		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2391+2T>G	7.37:g.106515250T>G						PIK3CG_uc003vdu.2_Splice_Site_p.A797_splice|PIK3CG_uc003vdw.2_Splice_Site_p.A797_splice	p.A797_splice	NM_002649	NP_002640	P48736	PK3CG_HUMAN			5	2476	+								A4D0Q6|Q8IV23|Q9BZC8	Splice_Site	SNP	ENST00000359195.3	37	c.2391_splice	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.384047	0.82792	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000473541;ENST00000359195	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2828	0.73801	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIK3CG	106302486	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.291000	0.78721	1.994000	0.58287	0.528000	0.53228	.		PASS	0.438	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		Intron	15	26	15	26	---	---	---	---
CBLL1	79872	broad.mit.edu	37	7	107398922	107398922	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:107398922G>A	ENST00000440859.3	+	6	1242	c.775G>A	c.(775-777)Gat>Aat	p.D259N	CBLL1_ENST00000222597.2_Missense_Mutation_p.D258N|CBLL1_ENST00000415884.2_3'UTR	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	259	Pro-rich.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D259N(1)		endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						GCCACATGAGGATATTCGTGC	0.478																																						uc003veq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(775-777)GAT>AAT		Cas-Br-M (murine) ecotropic retroviral							110.0	106.0	107.0					7																	107398922		2203	4300	6503	SO:0001583	missense	79872				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:107398922G>A	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.775G>A	7.37:g.107398922G>A	ENSP00000401277:p.Asp259Asn					CBLL1_uc011kme.1_Missense_Mutation_p.D138N|CBLL1_uc011kmf.1_Missense_Mutation_p.D258N	p.D259N	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN			6	1105	+			259			Pro-rich.		B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	c.775G>A	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522754	0.64747	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000420796;ENST00000417616	T;T;T	0.34275	1.37;1.42;1.48	5.01	5.01	0.66863	.	0.181450	0.45606	D	0.000354	T	0.56337	0.1978	L	0.55481	1.735	0.47441	D	0.999428	D;D	0.67145	0.979;0.996	P;D	0.73708	0.565;0.981	T	0.54214	-0.8327	10	0.44086	T	0.13	-3.4158	18.6706	0.91510	0.0:0.0:1.0:0.0	.	258;259	B7ZM03;Q75N03	.;HAKAI_HUMAN	N	259;138;258;209;205	ENSP00000401277:D259N;ENSP00000222597:D258N;ENSP00000410615:D209N	ENSP00000222597:D258N	D	+	1	0	CBLL1	107186158	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.579000	0.74036	2.489000	0.83994	0.561000	0.74099	GAT		PASS	0.478	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		34	64	34	64	---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114299712	114299712	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:114299712A>T	ENST00000393494.2	+	13	1910	c.1631A>T	c.(1630-1632)aAt>aTt	p.N544I	FOXP2_ENST00000350908.4_Missense_Mutation_p.N544I|FOXP2_ENST00000393489.3_Missense_Mutation_p.N452I|FOXP2_ENST00000393491.3_Missense_Mutation_p.N359I|FOXP2_ENST00000408937.3_Missense_Mutation_p.N569I|FOXP2_ENST00000403559.4_Missense_Mutation_p.N561I|FOXP2_ENST00000393498.2_Missense_Mutation_p.N523I|FOXP2_ENST00000393500.3_3'UTR			O15409	FOXP2_HUMAN	forkhead box P2	544					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N569I(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TTCAGGCGTAATGCAGCAACT	0.398																																						uc003vhb.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						c.(1630-1632)AAT>ATT		forkhead box P2 isoform I							132.0	124.0	127.0					7																	114299712		2203	4300	6503	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114299712A>T	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1631A>T	7.37:g.114299712A>T	ENSP00000377132:p.Asn544Ile					FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.N569I|FOXP2_uc003vha.2_Missense_Mutation_p.N452I|FOXP2_uc011kmu.1_Missense_Mutation_p.N561I|FOXP2_uc011kmv.1_Missense_Mutation_p.N543I|FOXP2_uc010ljz.1_Missense_Mutation_p.N359I|FOXP2_uc003vhe.1_Missense_Mutation_p.N114I	p.N544I	NM_014491	NP_055306	O15409	FOXP2_HUMAN			13	2005	+			544			Fork-head.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.1631A>T	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.948170	0.34377	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79;-3.79	6.06	6.06	0.98353	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.98055	0.9359	M	0.89163	3.01	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.997;0.999;0.997;0.997	D;D;D;D;D	0.83275	0.995;0.996;0.989;0.995;0.994	D	0.98925	1.0785	10	0.87932	D	0	.	16.6127	0.84892	1.0:0.0:0.0:0.0	.	543;561;359;544;569	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	I	544;569;561;544;521;452;359	ENSP00000377132:N544I;ENSP00000386200:N569I;ENSP00000385069:N561I;ENSP00000265436:N544I;ENSP00000377129:N452I;ENSP00000377130:N359I	ENSP00000265436:N544I	N	+	2	0	FOXP2	114086948	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.339000	0.96797	2.322000	0.78497	0.528000	0.53228	AAT		PASS	0.398	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		50	65	50	65	---	---	---	---
WNT2	7472	broad.mit.edu	37	7	116937856	116937856	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:116937856C>G	ENST00000265441.3	-	4	962	c.663G>C	c.(661-663)tgG>tgC	p.W221C		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	221					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.W221C(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CCATGGCCAGCCAGCATGTCC	0.547																																						uc003viz.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7						c.(661-663)TGG>TGC		wingless-type MMTV integration site family							111.0	104.0	106.0					7																	116937856		2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116937856C>G	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.663G>C	7.37:g.116937856C>G	ENSP00000265441:p.Trp221Cys					WNT2_uc003vja.2_Missense_Mutation_p.W125C	p.W221C	NM_003391	NP_003382	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	4	963	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		221					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.663G>C	CCDS5771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.180158|4.180158	0.78564|0.78564	.|.	.|.	ENSG00000105989|ENSG00000105989	ENST00000491214|ENST00000265441	T|D	0.64260|0.81579	-0.09|-1.51	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93858|0.93858	0.8035|0.8035	H|H	0.99299|0.99299	4.505|4.505	0.80722|0.80722	D|D	1|1	.|D;D	.|0.55800	.|0.973;0.973	.|P;P	.|0.59643	.|0.861;0.861	D|D	0.96029|0.96029	0.9015|0.9015	7|10	0.87932|0.87932	D|D	0|0	.|.	18.9316|18.9316	0.92568|0.92568	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|221;221	.|A4D0V1;P09544	.|.;WNT2_HUMAN	P|C	129|221	ENSP00000419466:A129P|ENSP00000265441:W221C	ENSP00000419466:A129P|ENSP00000265441:W221C	A|W	-|-	1|3	0|0	WNT2|WNT2	116725092|116725092	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.776000|7.776000	0.85560|0.85560	2.797000|2.797000	0.96272|0.96272	0.561000|0.561000	0.74099|0.74099	GCT|TGG		PASS	0.547	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		93	159	93	159	---	---	---	---
CPED1	79974	broad.mit.edu	37	7	120884320	120884320	+	Silent	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:120884320C>A	ENST00000310396.5	+	18	2705	c.2238C>A	c.(2236-2238)acC>acA	p.T746T	CPED1_ENST00000423795.1_Silent_p.T526T|CPED1_ENST00000450913.2_Silent_p.T746T	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	746						endoplasmic reticulum (GO:0005783)		p.T746T(1)									GAGAAATAACCTGGCAGCCCC	0.507																																						uc003vjq.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(2236-2238)ACC>ACA		hypothetical protein LOC79974 isoform 1							135.0	124.0	128.0					7																	120884320		2203	4300	6503	SO:0001819	synonymous_variant	79974					endoplasmic reticulum		g.chr7:120884320C>A		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2238C>A	7.37:g.120884320C>A						C7orf58_uc003vjs.3_Silent_p.T746T|C7orf58_uc003vjt.3_Silent_p.T526T	p.T746T	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			18	2685	+	all_neural(327;0.117)		746					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	ENST00000310396.5	37	c.2238C>A	CCDS34739.1																																																																																				PASS	0.507	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		25	40	25	40	---	---	---	---
SSU72P8	136157	broad.mit.edu	37	7	124116784	124116785	+	IGR	DNP	GG	GG	TT			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:124116784_124116785GG>TT								RP5-921G16.1 (81612 upstream) : RNU6-102P (170987 downstream)																							ACACAGTGGTGGAAGATCTGTG	0.475																																						uc011kod.1																			0											c.(358-360)GTG>GTT|c.(361-363)GAA>TAA		RecName: Full=Putative RNA polymerase II subunit A C-terminal domain phosphatase SSU72-like protein 2;          Short=CTD phosphatase SSU72-like protein 2;          EC=3.1.3.16;																																				SO:0001628	intergenic_variant	0							g.chr7:124116784G>T|g.chr7:124116785G>T																													7.37:g.124116784_124116785delinsTT							p.V120V|p.E121*	NM_001085395	NP_001078864					1	360|361	+									Silent|Nonsense_Mutation	SNP		37	c.360G>T|c.361G>T																																																																																				0	PASS	0.475									15|17	30|29	15	29	---	---	---	---
CALD1	800	broad.mit.edu	37	7	134617933	134617933	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:134617933A>G	ENST00000361675.2	+	5	642	c.413A>G	c.(412-414)cAa>cGa	p.Q138R	CALD1_ENST00000424922.1_Missense_Mutation_p.Q132R|CALD1_ENST00000361388.2_Missense_Mutation_p.Q138R|CALD1_ENST00000361901.2_Missense_Mutation_p.Q138R|CALD1_ENST00000393118.2_Missense_Mutation_p.Q132R|CALD1_ENST00000495522.1_Missense_Mutation_p.Q132R|CALD1_ENST00000417172.1_Missense_Mutation_p.Q138R|CALD1_ENST00000422748.1_Missense_Mutation_p.Q138R|CALD1_ENST00000543443.1_Missense_Mutation_p.Q143R			Q05682	CALD1_HUMAN	caldesmon 1	138	Myosin and calmodulin-binding. {ECO:0000250}.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)	p.Q138R(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						AGAAGAATGCAAAATGACACA	0.463																																						uc003vrz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(412-414)CAA>CGA		caldesmon 1 isoform 1							45.0	45.0	45.0					7																	134617933		2203	4300	6503	SO:0001583	missense	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134617933A>G	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.413A>G	7.37:g.134617933A>G	ENSP00000354826:p.Gln138Arg					CALD1_uc003vry.2_Missense_Mutation_p.Q138R|CALD1_uc003vsa.2_Missense_Mutation_p.Q138R|CALD1_uc003vsb.2_Missense_Mutation_p.Q138R|CALD1_uc010lmm.2_Missense_Mutation_p.Q138R|CALD1_uc011kpt.1_Intron|CALD1_uc003vsc.2_Missense_Mutation_p.Q132R|CALD1_uc003vsd.2_Missense_Mutation_p.Q132R|CALD1_uc011kpu.1_Missense_Mutation_p.Q143R|CALD1_uc011kpv.1_Missense_Mutation_p.Q2R|CALD1_uc003vse.2_Missense_Mutation_p.Q2R	p.Q138R	NM_033138	NP_149129	Q05682	CALD1_HUMAN			5	872	+			138			Myosin and calmodulin-binding (By similarity).		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	c.413A>G	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	A	9.882	1.201742	0.22121	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000361675;ENST00000361901;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;2.97;0.9;2.97	5.38	1.21	0.21127	.	0.889887	0.09460	N	0.799165	T	0.38134	0.1029	M	0.71581	2.175	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.13594	0.003;0.007;0.003;0.003;0.003;0.001;0.003;0.008;0.003	B;B;B;B;B;B;B;B;B	0.14578	0.004;0.004;0.004;0.002;0.002;0.002;0.002;0.011;0.004	T	0.36817	-0.9732	10	0.16896	T	0.51	-1.157	7.025	0.24934	0.4994:0.3378:0.0:0.1628	.	87;143;138;132;132;138;138;138;138	B4DPW5;F5H1Z9;A8K0X1;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;.;CALD1_HUMAN;.	R	138;138;138;138;138;138;132;132;132;143	ENSP00000398826:Q138R;ENSP00000411476:Q138R;ENSP00000355000:Q138R;ENSP00000395710:Q138R;ENSP00000354826:Q138R;ENSP00000354513:Q138R;ENSP00000376826:Q132R;ENSP00000393621:Q132R;ENSP00000419673:Q132R;ENSP00000445641:Q143R	ENSP00000355000:Q138R	Q	+	2	0	CALD1	134268473	0.001000	0.12720	0.002000	0.10522	0.458000	0.32498	0.838000	0.27572	0.276000	0.22118	0.455000	0.32223	CAA		PASS	0.463	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		17	19	17	19	---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142612555	142612555	+	Splice_Site	SNP	T	T	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:142612555T>A	ENST00000265310.1	-	10	1558		c.e10-2			NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5						calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GTCTGGAATCTGGGGAGAGGA	0.537																																						uc003wby.1																			1	Unknown(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.e10-1		transient receptor potential cation channel,							131.0	124.0	126.0					7																	142612555		2203	4300	6503	SO:0001630	splice_region_variant	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142612555T>A	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1210-2A>T	7.37:g.142612555T>A							p.I404_splice	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			10	1474	-	Melanoma(164;0.059)							A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Splice_Site	SNP	ENST00000265310.1	37	c.1210_splice	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.288731	0.59976	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	.	.	.	5.33	4.18	0.49190	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.767	0.40567	0.0:0.0817:0.0:0.9183	.	.	.	.	.	-1	.	.	.	-	.	.	TRPV5	142322677	1.000000	0.71417	0.883000	0.34634	0.686000	0.39977	7.583000	0.82559	0.876000	0.35872	0.533000	0.62120	.		PASS	0.537	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841	Intron	72	110	72	110	---	---	---	---
OR6B1	135946	broad.mit.edu	37	7	143701233	143701233	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:143701233G>C	ENST00000408922.2	+	1	212	c.144G>C	c.(142-144)ttG>ttC	p.L48F		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L48F(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TCATCCTATTGGTGCTGCAAA	0.498																																						uc003wdt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(142-144)TTG>TTC		olfactory receptor, family 6, subfamily B,							111.0	109.0	110.0					7																	143701233		2076	4243	6319	SO:0001583	missense	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701233G>C		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.144G>C	7.37:g.143701233G>C	ENSP00000386151:p.Leu48Phe						p.L48F	NM_001005281	NP_001005281	O95007	OR6B1_HUMAN			1	144	+	Melanoma(164;0.0783)		48			Cytoplasmic (Potential).		A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	37	c.144G>C	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424942	0.43020	.	.	ENSG00000221813	ENST00000408922	T	0.03035	4.07	5.37	3.51	0.40186	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29587	U	0.011721	T	0.17789	0.0427	M	0.91090	3.175	0.27544	N	0.950691	D	0.58970	0.984	P	0.61533	0.89	T	0.05903	-1.0857	10	0.62326	D	0.03	.	8.2351	0.31620	0.0:0.155:0.5245:0.3205	.	48	O95007	OR6B1_HUMAN	F	48	ENSP00000386151:L48F	ENSP00000386151:L48F	L	+	3	2	OR6B1	143332166	0.050000	0.20438	0.819000	0.32651	0.573000	0.36030	-0.235000	0.09016	0.781000	0.33589	0.557000	0.71058	TTG		PASS	0.498	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			13	43	13	43	---	---	---	---
SHH	6469	broad.mit.edu	37	7	155599110	155599110	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:155599110T>G	ENST00000297261.2	-	2	592	c.442A>C	c.(442-444)Atc>Ctc	p.I148L	SHH_ENST00000472308.1_5'Flank	NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	148					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.I148L(1)		central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACGTGGTGATGTCCACTGCG	0.637																																						uc003wmk.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|lung(1)	4						c.(442-444)ATC>CTC		sonic hedgehog preproprotein							116.0	89.0	98.0					7																	155599110		2203	4300	6503	SO:0001583	missense	6469				androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding	g.chr7:155599110T>G		CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"""sonic hedgehog (Drosophila) homolog"", ""sonic hedgehog homolog (Drosophila)"""	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.442A>C	7.37:g.155599110T>G	ENSP00000297261:p.Ile148Leu					SHH_uc003wmh.1_RNA|SHH_uc003wmi.1_Missense_Mutation_p.I61L|SHH_uc003wmj.1_Missense_Mutation_p.I61L	p.I148L	NM_000193	NP_000184	Q15465	SHH_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	593	-	all_neural(206;0.101)	all_hematologic(28;0.0592)	148					A4D247|Q75MC9	Missense_Mutation	SNP	ENST00000297261.2	37	c.442A>C	CCDS5942.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.556794	0.86231	.	.	ENSG00000164690	ENST00000297261;ENST00000430104	D;D	0.99507	-5.97;-6.04	3.35	3.35	0.38373	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.000000	0.85682	D	0.000000	D	0.99390	0.9785	M	0.81112	2.525	0.80722	D	1	P;P;D	0.63880	0.929;0.654;0.993	D;D;D	0.75484	0.982;0.949;0.986	D	0.98638	1.0674	10	0.87932	D	0	.	12.2036	0.54340	0.0:0.0:0.0:1.0	.	148;151;61	Q15465;D9ZGF9;C9JC48	SHH_HUMAN;.;.	L	148;61	ENSP00000297261:I148L;ENSP00000396621:I61L	ENSP00000297261:I148L	I	-	1	0	SHH	155291871	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.584000	0.82572	1.515000	0.48885	0.459000	0.35465	ATC		PASS	0.637	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193		42	48	42	48	---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2092844	2092844	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:2092844C>T	ENST00000262113.4	+	37	4478	c.4337C>T	c.(4336-4338)gCc>gTc	p.A1446V	MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Missense_Mutation_p.A871V	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1446					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.A1446V(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCGGACATGGCCCCGCCCCAG	0.572																																						uc003wpx.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4336-4338)GCC>GTC		myomesin 2							77.0	70.0	72.0					8																	2092844		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2092844C>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.4337C>T	8.37:g.2092844C>T	ENSP00000262113:p.Ala1446Val					MYOM2_uc011kwi.1_Missense_Mutation_p.A871V	p.A1446V	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	37	4475	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	1446					Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.4337C>T	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	C	9.157	1.017744	0.19355	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.52295	0.67;0.85	5.35	-1.53	0.08611	.	1.218000	0.05670	N	0.588510	T	0.22666	0.0547	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09796	-1.0658	10	0.33940	T	0.23	.	0.982	0.01438	0.3206:0.2838:0.0922:0.3035	.	1446	P54296	MYOM2_HUMAN	V	1446;871	ENSP00000262113:A1446V;ENSP00000428396:A871V	ENSP00000262113:A1446V	A	+	2	0	MYOM2	2080251	0.000000	0.05858	0.000000	0.03702	0.258000	0.26162	-0.202000	0.09451	-0.554000	0.06150	0.655000	0.94253	GCC		PASS	0.572	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		53	7	53	7	---	---	---	---
STMN4	81551	broad.mit.edu	37	8	27098712	27098712	+	Silent	SNP	G	G	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:27098712G>C	ENST00000265770.7	-	4	313	c.177C>G	c.(175-177)acC>acG	p.T59T	STMN4_ENST00000522908.1_Silent_p.T86T|STMN4_ENST00000519997.1_Silent_p.T50T|STMN4_ENST00000519614.1_Silent_p.T59T|STMN4_ENST00000523048.1_Silent_p.T86T|STMN4_ENST00000350889.4_Silent_p.T86T			Q9H169	STMN4_HUMAN	stathmin-like 4	59	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				regulation of microtubule polymerization or depolymerization (GO:0031110)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)		p.T86T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)	Lomustine(DB01206)	ATTGGCCCGAGGTGCATTTGT	0.577																																						uc003xfk.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|pancreas(1)	2						c.(175-177)ACC>ACG		RecName: Full=Stathmin-4; AltName: Full=Stathmin-like protein B3;          Short=RB3;							192.0	159.0	170.0					8																	27098712		2203	4300	6503	SO:0001819	synonymous_variant	81551				intracellular signal transduction			g.chr8:27098712G>C		CCDS6055.1, CCDS64851.1, CCDS64852.1, CCDS64854.1	8p21.2	2006-12-09			ENSG00000015592	ENSG00000015592			16078	protein-coding gene	gene with protein product						11230166	Standard	NM_001283054		Approved	RB3	uc003xfj.3	Q9H169	OTTHUMG00000099461	ENST00000265770.7:c.177C>G	8.37:g.27098712G>C						STMN4_uc003xfj.2_Silent_p.T86T|STMN4_uc011lai.1_Silent_p.T86T|STMN4_uc011laj.1_Silent_p.T50T|STMN4_uc011lak.1_Silent_p.T86T|STMN4_uc010luo.2_Silent_p.T59T	p.T59T			Q9H169	STMN4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)	4	291	-		Ovarian(32;0.00167)	59					B7Z2Z7|B7Z4I9|D3DSS8|D3DSS9|G5EA16|Q2TAB9	Silent	SNP	ENST00000265770.7	37	c.177C>G																																																																																					PASS	0.577	STMN4-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000375941.1	NM_030795		43	151	43	151	---	---	---	---
GTF2E2	2961	broad.mit.edu	37	8	30469975	30469975	+	Silent	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:30469975A>G	ENST00000355904.4	-	5	672	c.390T>C	c.(388-390)atT>atC	p.I130I	GTF2E2_ENST00000522833.1_5'Flank	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	130					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.I130I(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		CTATTACTTCAATTTTGGGAT	0.348																																						uc003xig.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(388-390)ATT>ATC		general transcription factor IIE, polypeptide 2,																																				SO:0001819	synonymous_variant	2961				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding	g.chr8:30469975A>G	BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"""General transcription factors"""	4651	protein-coding gene	gene with protein product		189964	"""general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"""			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.390T>C	8.37:g.30469975A>G							p.I130I	NM_002095	NP_002086	P29084	T2EB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)	5	643	-			130			TFIIE beta.		D3DSV2|Q9H2B9	Silent	SNP	ENST00000355904.4	37	c.390T>C	CCDS6078.1																																																																																				PASS	0.348	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2	NM_002095		18	18	18	18	---	---	---	---
KCNU1	157855	broad.mit.edu	37	8	36663865	36663865	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:36663865T>C	ENST00000399881.3	+	5	584	c.547T>C	c.(547-549)Ttt>Ctt	p.F183L		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	183					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.F183L(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCCACCAACCTTTATTTCTTA	0.348																																						uc010lvw.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(547-549)TTT>CTT		potassium channel, subfamily U, member 1							91.0	88.0	89.0					8																	36663865		1830	4088	5918	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36663865T>C	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.547T>C	8.37:g.36663865T>C	ENSP00000382770:p.Phe183Leu					KCNU1_uc003xjw.2_RNA	p.F183L	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	5	634	+			183			Helical; Name=Segment S3; (Potential).			Missense_Mutation	SNP	ENST00000399881.3	37	c.547T>C	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.270677	0.80469	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	T;T	0.49720	0.77;0.77	5.57	5.57	0.84162	Ion transport (1);	0.000000	0.64402	U	0.000009	T	0.49779	0.1577	N	0.11000	0.08	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	T	0.58364	-0.7649	10	0.54805	T	0.06	0.0025	14.7056	0.69189	0.0:0.0:0.0:1.0	.	183	A8MYU2	KCNU1_HUMAN	L	183	ENSP00000429951:F183L;ENSP00000382770:F183L	ENSP00000382770:F183L	F	+	1	0	KCNU1	36783023	1.000000	0.71417	0.896000	0.35187	0.760000	0.43138	7.177000	0.77650	2.114000	0.64651	0.455000	0.32223	TTT		PASS	0.348	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		4	10	4	10	---	---	---	---
NCOA2	10499	broad.mit.edu	37	8	71069263	71069263	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:71069263C>T	ENST00000452400.2	-	11	1518	c.1337G>A	c.(1336-1338)gGa>gAa	p.G446E	NCOA2_ENST00000524223.1_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	446					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.G446E(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			ATGGTTCATTCCCCCAGAACC	0.498			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	uc003xyn.1				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	1	Substitution - Missense(1)		lung(1)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(1336-1338)GGA>GAA		nuclear receptor coactivator 2							132.0	128.0	130.0					8																	71069263		1978	4151	6129	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71069263C>T	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.1337G>A	8.37:g.71069263C>T	ENSP00000399968:p.Gly446Glu						p.G446E	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		11	1499	-	Breast(64;0.201)		446					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.1337G>A	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.552552	0.45487	.	.	ENSG00000140396	ENST00000452400	T	0.01572	4.76	5.93	5.93	0.95920	.	0.158829	0.56097	D	0.000024	T	0.02727	0.0082	L	0.54323	1.7	0.80722	D	1	P	0.46064	0.872	B	0.31290	0.127	T	0.57452	-0.7809	10	0.46703	T	0.11	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	446	Q15596	NCOA2_HUMAN	E	446	ENSP00000399968:G446E	ENSP00000399968:G446E	G	-	2	0	NCOA2	71231817	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.915000	0.69973	2.805000	0.96524	0.655000	0.94253	GGA		PASS	0.498	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			60	56	60	56	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77618098	77618098	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:77618098G>A	ENST00000521891.2	+	2	2223	c.1775G>A	c.(1774-1776)gGc>gAc	p.G592D	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G592D|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G592D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G592D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	592					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.G592D(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)			CACCAGCATGGCTTTACCCCG	0.582										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(1774-1776)GGC>GAC		zinc finger homeodomain 4							69.0	75.0	73.0					8																	77618098		2123	4223	6346	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618098G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1775G>A	8.37:g.77618098G>A	ENSP00000430497:p.Gly592Asp	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.G592D|ZFHX4_uc003yau.1_Missense_Mutation_p.G592D|ZFHX4_uc003yaw.1_Missense_Mutation_p.G592D	p.G592D	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2162	+			592					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.1775G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085245	0.55861	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.47177	0.85;0.9;0.87;0.86	5.65	5.65	0.86999	.	0.144329	0.31257	U	0.007969	T	0.31451	0.0797	N	0.22421	0.69	0.40453	D	0.980161	P;B;P;B	0.41188	0.624;0.29;0.741;0.082	B;B;B;B	0.31495	0.062;0.131;0.131;0.034	T	0.14282	-1.0478	10	0.11794	T	0.64	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	592;592;592;592	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	D	592	ENSP00000430497:G592D;ENSP00000399605:G592D;ENSP00000050961:G592D;ENSP00000430848:G592D	ENSP00000050961:G592D	G	+	2	0	ZFHX4	77780653	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	3.804000	0.55568	2.941000	0.99782	0.655000	0.94253	GGC		PASS	0.582	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		58	53	58	53	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77766431	77766431	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:77766431C>A	ENST00000521891.2	+	10	7722	c.7274C>A	c.(7273-7275)aCc>aAc	p.T2425N	ZFHX4_ENST00000455469.2_Missense_Mutation_p.T2380N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T2399N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T2380N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2380	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.T2409N(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)			TCTCAAGGCACCAAACCAGCC	0.547										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7138-7140)ACC>AAC		zinc finger homeodomain 4							45.0	76.0	66.0					8																	77766431		2036	4151	6187	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766431C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7274C>A	8.37:g.77766431C>A	ENSP00000430497:p.Thr2425Asn	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.T2425N|ZFHX4_uc003yaw.1_Missense_Mutation_p.T2380N	p.T2380N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7526	+			2380			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7139C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	3.853	-0.031421	0.07543	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.49720	0.77;0.82;0.79;0.79	5.23	1.32	0.21799	.	0.332987	0.21505	U	0.073474	T	0.28034	0.0691	L	0.36672	1.1	0.19300	N	0.999971	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.19976	-1.0289	10	0.09843	T	0.71	.	4.1814	0.10378	0.1188:0.5187:0.2305:0.1319	.	2380;2380;2425	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	N	2425;2409;2380;2380;2399	ENSP00000430497:T2425N;ENSP00000399605:T2380N;ENSP00000050961:T2380N;ENSP00000430848:T2399N	ENSP00000050961:T2380N	T	+	2	0	ZFHX4	77928986	0.177000	0.23109	0.994000	0.49952	0.124000	0.20399	0.810000	0.27183	0.055000	0.16094	0.650000	0.86243	ACC		PASS	0.547	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		4	4	4	4	---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87683244	87683244	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:87683244G>T	ENST00000320005.5	-	4	468	c.421C>A	c.(421-423)Caa>Aaa	p.Q141K		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	141					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.Q141K(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GCTGTTCTTTGACGCATTCTT	0.473																																						uc003ydx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(421-423)CAA>AAA		cyclic nucleotide gated channel beta 3							246.0	249.0	248.0					8																	87683244		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87683244G>T	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.421C>A	8.37:g.87683244G>T	ENSP00000316605:p.Gln141Lys					CNGB3_uc010maj.2_Missense_Mutation_p.Q3K	p.Q141K	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			4	467	-			141			Cytoplasmic (Potential).		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.421C>A	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971992	0.53614	.	.	ENSG00000170289	ENST00000320005	T	0.60797	0.16	5.68	4.79	0.61399	.	0.243132	0.32687	N	0.005774	T	0.54224	0.1845	L	0.50333	1.59	0.36538	D	0.87112	B;B	0.21688	0.059;0.035	B;B	0.25884	0.064;0.029	T	0.59268	-0.7486	10	0.48119	T	0.1	.	15.0315	0.71710	0.0:0.4571:0.5429:0.0	.	141;141	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	K	141	ENSP00000316605:Q141K	ENSP00000316605:Q141K	Q	-	1	0	CNGB3	87752360	0.975000	0.34042	0.993000	0.49108	0.995000	0.86356	2.176000	0.42500	1.360000	0.45960	0.591000	0.81541	CAA		PASS	0.473	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		182	254	182	254	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100146904	100146904	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:100146904A>T	ENST00000358544.2	+	9	1362	c.1251A>T	c.(1249-1251)aaA>aaT	p.K417N	VPS13B_ENST00000355155.1_Missense_Mutation_p.K417N|VPS13B_ENST00000357162.2_Missense_Mutation_p.K417N|VPS13B_ENST00000395996.1_Missense_Mutation_p.K417N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	417					protein transport (GO:0015031)			p.K417N(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTCCACAGAAAGTAAAATCTA	0.264																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(1249-1251)AAA>AAT		vacuolar protein sorting 13B isoform 5							63.0	70.0	68.0					8																	100146904		2203	4288	6491	SO:0001583	missense	157680				protein transport			g.chr8:100146904A>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1251A>T	8.37:g.100146904A>T	ENSP00000351346:p.Lys417Asn					VPS13B_uc003yiw.2_Missense_Mutation_p.K417N|VPS13B_uc003yit.2_Missense_Mutation_p.K417N|VPS13B_uc003yiu.1_Missense_Mutation_p.K417N|VPS13B_uc003yix.1_5'Flank	p.K417N	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		9	1362	+	Breast(36;3.73e-07)		417					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.1251A>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.588007	0.66105	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	D;T;T;T	0.83163	-1.69;-1.07;-1.06;-0.77	5.39	4.23	0.50019	.	0.000000	0.85682	D	0.000000	D	0.84982	0.5593	L	0.29908	0.895	0.53005	D	0.999967	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.997;0.994;0.999;0.988	D	0.85586	0.1243	10	0.87932	D	0	.	11.2594	0.49074	0.9278:0.0:0.0722:0.0	.	417;417;417;417	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;VP13B_HUMAN;.;.	N	417	ENSP00000347281:K417N;ENSP00000349685:K417N;ENSP00000351346:K417N;ENSP00000379318:K417N	ENSP00000347281:K417N	K	+	3	2	VPS13B	100216080	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.998000	0.40796	0.985000	0.38656	0.477000	0.44152	AAA		PASS	0.264	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		15	18	15	18	---	---	---	---
PABPC1	26986	broad.mit.edu	37	8	101717188	101717188	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:101717188T>G	ENST00000318607.5	-	13	2912	c.1784A>C	c.(1783-1785)cAt>cCt	p.H595P	PABPC1_ENST00000519596.1_5'Flank|AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519004.1_Missense_Mutation_p.H550P|PABPC1_ENST00000522387.1_Missense_Mutation_p.H563P	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	595	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)	p.H595P(1)		breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CTCGAGCATATGAAGAAGTTC	0.408																																						uc003yjs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1783-1785)CAT>CCT		poly(A) binding protein, cytoplasmic 1							110.0	103.0	105.0					8																	101717188		2203	4300	6503	SO:0001583	missense	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101717188T>G	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1784A>C	8.37:g.101717188T>G	ENSP00000313007:p.His595Pro					PABPC1_uc011lhc.1_Missense_Mutation_p.H563P|PABPC1_uc011lhd.1_Missense_Mutation_p.H550P|PABPC1_uc003yjt.1_Missense_Mutation_p.H592P|PABPC1_uc003yju.2_RNA	p.H595P	NM_002568	NP_002559	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		13	2288	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		595			PABC.		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	c.1784A>C	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.5|23.5	4.426275|4.426275	0.83667|0.83667	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387;ENST00000517990;ENST00000522658|ENST00000518293;ENST00000520868	T;T;T;T;T|.	0.46819|.	0.86;0.86;0.86;0.86;0.86|.	5.62|5.62	5.62|5.62	0.85841|0.85841	Polyadenylate-binding protein/Hyperplastic disc protein (5);|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.80160|0.80160	0.4572|0.4572	M|M	0.86740|0.86740	2.835|2.835	0.80722|0.80722	D|D	1|1	P;P;P|.	0.47106|.	0.768;0.89;0.89|.	D;D;D|.	0.66847|.	0.947;0.92;0.935|.	T|T	0.82997|0.82997	-0.0179|-0.0179	10|5	0.66056|.	D|.	0.02|.	.|.	16.1204|16.1204	0.81351|0.81351	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	563;595;595|.	E7ERJ7;B3KT93;P11940|.	.;.;PABP1_HUMAN|.	P|L	595;506;550;563;95;142|1;128	ENSP00000313007:H595P;ENSP00000429594:H550P;ENSP00000429395:H563P;ENSP00000428030:H95P;ENSP00000428840:H142P|.	ENSP00000313007:H595P|.	H|I	-|-	2|1	0|0	PABPC1|PABPC1	101786364|101786364	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.850000|7.850000	0.86915|0.86915	2.269000|2.269000	0.75478|0.75478	0.460000|0.460000	0.39030|0.39030	CAT|ATA		PASS	0.408	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		4	102	4	102	---	---	---	---
ABRA	137735	broad.mit.edu	37	8	107773438	107773438	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:107773438G>C	ENST00000311955.3	-	2	1027	c.973C>G	c.(973-975)Cga>Gga	p.R325G		NM_139166.4	NP_631905.1			actin-binding Rho activating protein									p.R325G(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TTGCCATCTCGTCTGTGGCGA	0.473																																						uc003ymm.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(973-975)CGA>GGA		actin-binding Rho activating protein							137.0	118.0	124.0					8																	107773438		2203	4300	6503	SO:0001583	missense	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107773438G>C	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.973C>G	8.37:g.107773438G>C	ENSP00000311436:p.Arg325Gly						p.R325G	NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		2	1027	-			325						Missense_Mutation	SNP	ENST00000311955.3	37	c.973C>G	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.894970	0.52121	.	.	ENSG00000174429	ENST00000311955	.	.	.	5.95	2.82	0.32997	.	0.292641	0.33572	N	0.004765	T	0.29028	0.0721	L	0.29908	0.895	0.09310	N	1	B	0.13594	0.008	B	0.15484	0.013	T	0.17899	-1.0354	9	0.35671	T	0.21	-14.1201	10.7101	0.45977	0.0:0.1188:0.5165:0.3647	.	325	Q8N0Z2	ABRA_HUMAN	G	325	.	ENSP00000311436:R325G	R	-	1	2	ABRA	107842614	0.001000	0.12720	0.244000	0.24202	0.879000	0.50718	1.052000	0.30429	1.478000	0.48253	0.655000	0.94253	CGA		PASS	0.473	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		36	51	36	51	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110530513	110530513	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:110530513C>T	ENST00000378402.5	+	73	11911	c.11807C>T	c.(11806-11808)aCa>aTa	p.T3936I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3936					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.T3940I(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)			CACACTGCCACAGTGATATTT	0.368										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.(11806-11808)ACA>ATA		fibrocystin L precursor							132.0	127.0	128.0					8																	110530513		1855	4091	5946	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110530513C>T	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.11807C>T	8.37:g.110530513C>T	ENSP00000367655:p.Thr3936Ile	HNSCC(38;0.096)					p.T3936I	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		73	11911	+			3936			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.11807C>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462823	0.43736	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.85861	-2.04;-1.86	5.84	1.98	0.26296	.	0.168107	0.52532	D	0.000075	T	0.70509	0.3232	N	0.22421	0.69	0.22500	N	0.999047	B	0.02656	0.0	B	0.04013	0.001	T	0.55885	-0.8070	10	0.33940	T	0.23	.	5.021	0.14361	0.1605:0.5987:0.0:0.2408	.	3936	Q86WI1	PKHL1_HUMAN	I	3936;864	ENSP00000367655:T3936I;ENSP00000437376:T864I	ENSP00000367655:T3936I	T	+	2	0	PKHD1L1	110599689	0.157000	0.22836	0.701000	0.30321	0.990000	0.78478	3.129000	0.50500	0.345000	0.23873	-0.136000	0.14681	ACA		PASS	0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		26	32	26	32	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124384043	124384043	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:124384043C>T	ENST00000287394.5	-	4	510	c.403G>A	c.(403-405)Gct>Act	p.A135T	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	135					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.A135T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ATGTTTCTAGCCCTCAATGAC	0.318																																						uc003yqh.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(403-405)GCT>ACT		ATPase family, AAA domain containing 2							166.0	122.0	137.0					8																	124384043		2202	4299	6501	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124384043C>T	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.403G>A	8.37:g.124384043C>T	ENSP00000287394:p.Ala135Thr					ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.A135T	p.A135T	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		4	511	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		135					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.403G>A	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	0.688	-0.795604	0.02862	.	.	ENSG00000156802	ENST00000287394	T	0.29397	1.57	4.33	3.17	0.36434	.	2.162220	0.01631	N	0.023532	T	0.12220	0.0297	N	0.00841	-1.15	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32877	-0.9890	10	0.12430	T	0.62	-4.8696	9.3572	0.38173	0.0:0.0862:0.0:0.9138	.	135	Q6PL18	ATAD2_HUMAN	T	135	ENSP00000287394:A135T	ENSP00000287394:A135T	A	-	1	0	ATAD2	124453224	1.000000	0.71417	0.996000	0.52242	0.528000	0.34623	2.459000	0.45023	0.712000	0.32039	-0.340000	0.08031	GCT		PASS	0.318	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		11	15	11	15	---	---	---	---
KCNK9	51305	broad.mit.edu	37	8	140630833	140630833	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:140630833C>T	ENST00000520439.1	-	2	856	c.793G>A	c.(793-795)Gcc>Acc	p.A265T	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Missense_Mutation_p.A265T	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	265					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.A265T(2)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	CGGTTTCCGGCGAGGGATGCC	0.632																																						uc003yvf.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(2)|lung(1)	3						c.(793-795)GCC>ACC		potassium channel, subfamily K, member 9							44.0	50.0	48.0					8																	140630833		2203	4300	6503	SO:0001583	missense	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140630833C>T	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.793G>A	8.37:g.140630833C>T	ENSP00000430676:p.Ala265Thr					KCNK9_uc003yvg.1_Missense_Mutation_p.A265T|KCNK9_uc003yve.1_RNA	p.A265T	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	857	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	265			Cytoplasmic (Potential).		Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	c.793G>A	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	C	3.238	-0.155904	0.06544	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.16324	2.35;2.35;2.35	5.61	2.62	0.31277	.	0.456064	0.23312	N	0.049549	T	0.12008	0.0292	L	0.43152	1.355	0.48040	D	0.999576	B	0.09022	0.002	B	0.06405	0.002	T	0.14811	-1.0459	10	0.10111	T	0.7	.	8.0741	0.30706	0.0:0.6516:0.2604:0.088	.	265	Q9NPC2	KCNK9_HUMAN	T	265	ENSP00000429847:A265T;ENSP00000302166:A265T;ENSP00000430676:A265T	ENSP00000302166:A265T	A	-	1	0	KCNK9	140700015	1.000000	0.71417	0.001000	0.08648	0.029000	0.11900	3.931000	0.56529	0.219000	0.20840	0.591000	0.81541	GCC		PASS	0.632	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		31	86	31	86	---	---	---	---
CYP11B2	1585	broad.mit.edu	37	8	143996633	143996633	+	Silent	SNP	A	A	G	rs199988205		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:143996633A>G	ENST00000323110.2	-	3	426	c.424T>C	c.(424-426)Ttg>Ctg	p.L142L		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	142					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.L142L(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	TTCAGCCGCAATCGGTTGAAG	0.622									Familial Hyperaldosteronism type I				.|||	1	0.000199681	0.0	0.0014	5008	,	,		18753	0.0		0.0	False		,,,				2504	0.0					uc003yxk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(424-426)TTG>CTG		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)						49.0	40.0	43.0					8																	143996633		2203	4300	6503	SO:0001819	synonymous_variant	1585	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143996633A>G	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.424T>C	8.37:g.143996633A>G							p.L142L	NM_000498	NP_000489	P19099	C11B2_HUMAN			3	427	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		142					B0ZBE4|Q16726	Silent	SNP	ENST00000323110.2	37	c.424T>C	CCDS6393.1																																																																																				PASS	0.622	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			14	23	14	23	---	---	---	---
GLI4	2738	broad.mit.edu	37	8	144358475	144358475	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:144358475A>G	ENST00000523522.1	+	3	671	c.632A>G	c.(631-633)tAc>tGc	p.Y211C	GLI4_ENST00000340042.1_Missense_Mutation_p.Y211C|ZFP41_ENST00000522452.1_3'UTR|GLI4_ENST00000523812.1_3'UTR			P10075	GLI4_HUMAN	GLI family zinc finger 4	211					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y211C(1)		endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GAGAAGCCCTACGCCTGCCAC	0.667																																						uc003yxx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(631-633)TAC>TGC		GLI-Kruppel family member GLI4							16.0	19.0	18.0					8																	144358475		2182	4265	6447	SO:0001583	missense	2738					nucleus	DNA binding|zinc ion binding	g.chr8:144358475A>G		CCDS6398.1	8q24.3	2013-01-08	2009-03-05		ENSG00000250571	ENSG00000250571		"""Zinc fingers, C2H2-type"""	4320	protein-coding gene	gene with protein product		165280	"""GLI-Kruppel family member GLI4"", ""glioma-associated oncogene family zinc finger 4"""			2850480	Standard	NM_138465		Approved	HKR4, ZNF928	uc003yxx.3	P10075	OTTHUMG00000164952	ENST00000523522.1:c.632A>G	8.37:g.144358475A>G	ENSP00000430987:p.Tyr211Cys					ZFP41_uc003yxv.2_RNA	p.Y211C	NM_138465	NP_612474	P10075	GLI4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		4	717	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		211			C2H2-type 2.		Q96CK9	Missense_Mutation	SNP	ENST00000523522.1	37	c.632A>G	CCDS6398.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.125002	0.37533	.	.	ENSG00000250571	ENST00000340042;ENST00000523522	T;T	0.25414	1.8;1.8	3.97	3.97	0.46021	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49474	0.1559	M	0.75085	2.285	0.29148	N	0.878566	D	0.89917	1.0	D	0.91635	0.999	T	0.44922	-0.9296	9	0.87932	D	0	.	10.899	0.47040	1.0:0.0:0.0:0.0	.	211	P10075	GLI4_HUMAN	C	211	ENSP00000345024:Y211C;ENSP00000430987:Y211C	ENSP00000345024:Y211C	Y	+	2	0	GLI4	144429850	0.000000	0.05858	0.810000	0.32431	0.034000	0.12701	0.368000	0.20399	1.656000	0.50722	0.456000	0.33151	TAC		PASS	0.667	GLI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381128.2			18	22	18	22	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144993528	144993528	+	Silent	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:144993528C>A	ENST00000322810.4	-	32	11041	c.10872G>T	c.(10870-10872)gtG>gtT	p.V3624V	PLEC_ENST00000354589.3_Silent_p.V3487V|PLEC_ENST00000345136.3_Silent_p.V3487V|PLEC_ENST00000357649.2_Silent_p.V3491V|PLEC_ENST00000527096.1_Silent_p.V3510V|PLEC_ENST00000354958.2_Silent_p.V3465V|PLEC_ENST00000436759.2_Silent_p.V3514V|PLEC_ENST00000356346.3_Silent_p.V3473V|PLEC_ENST00000398774.2_Silent_p.V3455V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3624	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.V3624V(1)|p.V3514V(1)|p.V3487V(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTGGTAGGCCACGTCCACAG	0.667																																						uc003zaf.1																			3	Substitution - coding silent(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(10870-10872)GTG>GTT		plectin isoform 1							57.0	62.0	61.0					8																	144993528		2048	4193	6241	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144993528C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10872G>T	8.37:g.144993528C>A						PLEC_uc003zab.1_Silent_p.V3487V|PLEC_uc003zac.1_Silent_p.V3491V|PLEC_uc003zad.2_Silent_p.V3487V|PLEC_uc003zae.1_Silent_p.V3455V|PLEC_uc003zag.1_Silent_p.V3465V|PLEC_uc003zah.2_Silent_p.V3473V|PLEC_uc003zaj.2_Silent_p.V3514V	p.V3624V	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	11042	-			3624			Globular 2.|Plectin 15.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.10872G>T	CCDS43772.1																																																																																				PASS	0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		85	191	85	191	---	---	---	---
OPLAH	26873	broad.mit.edu	37	8	145109557	145109557	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:145109557C>A	ENST00000426825.1	-	19	2674	c.2593G>T	c.(2593-2595)Ggc>Tgc	p.G865C	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	865					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.G865C(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)			GGCATGGAGCCTGGTGTGATG	0.637																																						uc003zar.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2593-2595)GGC>TGC		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						43.0	52.0	49.0					8																	145109557		2121	4231	6352	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145109557C>A	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.2593G>T	8.37:g.145109557C>A	ENSP00000475943:p.Gly865Cys					OPLAH_uc003zas.1_Missense_Mutation_p.R139M	p.G865C	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)		19	2675	-	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)		865					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.2593G>T		.	.	.	.	.	.	.	.	.	.	C	9.013	0.982999	0.18889	.	.	ENSG00000178814	ENST00000426825	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.80670	0.4667	.	.	.	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.82948	-0.0204	7	0.87932	D	0	.	17.0037	0.86387	0.0:1.0:0.0:0.0	.	865	O14841	OPLA_HUMAN	C	865	.	ENSP00000412071:G865C	G	-	1	0	OPLAH	145181545	0.999000	0.42202	0.956000	0.39512	0.130000	0.20726	7.057000	0.76669	2.621000	0.88768	0.563000	0.77884	GGC		PASS	0.637	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		40	67	40	67	---	---	---	---
INSL4	3641	broad.mit.edu	37	9	5231522	5231522	+	5'UTR	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr9:5231522G>T	ENST00000239316.4	+	0	104					NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)						cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	insulin-like growth factor receptor binding (GO:0005159)|receptor binding (GO:0005102)			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		TTCAGGTCCAGGATGGCCAGC	0.567																																						uc003ziy.2																			0					0						c.(-3-1)CAGGA>CATGA		insulin-like 4 precursor							67.0	62.0	63.0					9																	5231522		2203	4300	6503	SO:0001623	5_prime_UTR_variant	3641				cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding	g.chr9:5231522G>T		CCDS6459.1	9p24	2008-02-05			ENSG00000120211	ENSG00000120211			6087	protein-coding gene	gene with protein product		600910				8666396, 9730618	Standard	NM_002195		Approved	EPIL	uc003ziy.3	Q14641	OTTHUMG00000019494	ENST00000239316.4:c.-2G>T	9.37:g.5231522G>T								NM_002195	NP_002186	Q14641	INSL4_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)	1	104	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)						A8K678|Q5W127	Translation_Start_Site	SNP	ENST00000239316.4	37	c.-1G>T	CCDS6459.1																																																																																				PASS	0.567	INSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051616.2	NM_002195		15	4	15	4	---	---	---	---
TOPORS	10210	broad.mit.edu	37	9	32543732	32543732	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr9:32543732C>A	ENST00000360538.2	-	3	907	c.791G>T	c.(790-792)cGt>cTt	p.R264L	TOPORS_ENST00000379858.1_Missense_Mutation_p.R199L	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	264	Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R264L(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AGCACCAGCACGATAAAGAGT	0.403																																						uc003zrb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(790-792)CGT>CTT		topoisomerase I binding, arginine/serine-rich							77.0	84.0	81.0					9																	32543732		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32543732C>A	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.791G>T	9.37:g.32543732C>A	ENSP00000353735:p.Arg264Leu					TOPORS_uc003zrc.2_Missense_Mutation_p.R197L	p.R264L	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	958	-			264			Required for DNA-binding.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.791G>T	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983282	0.53827	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.19669	2.13;2.15	5.93	5.93	0.95920	.	0.000000	0.50627	D	0.000103	T	0.39517	0.1081	M	0.65498	2.005	0.54753	D	0.999984	D	0.54047	0.964	P	0.52424	0.698	T	0.09574	-1.0668	10	0.72032	D	0.01	-24.278	19.1082	0.93305	0.0:1.0:0.0:0.0	.	264	Q9NS56	TOPRS_HUMAN	L	264;199	ENSP00000353735:R264L;ENSP00000369187:R199L	ENSP00000353735:R264L	R	-	2	0	TOPORS	32533732	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.459000	0.80802	2.805000	0.96524	0.655000	0.94253	CGT		PASS	0.403	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		40	15	40	15	---	---	---	---
ZCCHC6	79670	broad.mit.edu	37	9	88924922	88924922	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr9:88924922T>C	ENST00000375963.3	-	19	3561	c.3389A>G	c.(3388-3390)aAc>aGc	p.N1130S	ZCCHC6_ENST00000277141.6_Missense_Mutation_p.N419S|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.N1130S|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.N68S|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.N894S	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1130					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.N1130S(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AAGCCTTGTGTTATGAAGGGC	0.338																																						uc004aoq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3388-3390)AAC>AGC		zinc finger, CCHC domain containing 6							98.0	97.0	97.0					9																	88924922		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88924922T>C	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.3389A>G	9.37:g.88924922T>C	ENSP00000365130:p.Asn1130Ser					ZCCHC6_uc010mqe.2_Missense_Mutation_p.N68S|ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.N894S|ZCCHC6_uc004aou.2_Missense_Mutation_p.N1130S	p.N1130S	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN			19	3604	-			1130					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.3389A>G	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.118732	0.77323	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375957;ENST00000375963	T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.75034	0.3795	M	0.87900	2.915	0.51482	D	0.999925	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.91635	0.987;0.999;0.984	T	0.79531	-0.1765	10	0.54805	T	0.06	-14.378	14.3608	0.66771	0.0:0.0:0.0:1.0	.	1130;894;1130	Q5VYS8-6;Q5VYS8-4;Q5VYS8	.;.;TUT7_HUMAN	S	419;894;1130;68;1130	ENSP00000277141:N419S;ENSP00000365127:N894S;ENSP00000365128:N1130S;ENSP00000365124:N68S;ENSP00000365130:N1130S	ENSP00000277141:N419S	N	-	2	0	ZCCHC6	88114742	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.132000	0.77251	2.034000	0.60081	0.533000	0.62120	AAC		PASS	0.338	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		13	0	13	0	---	---	---	---
ZCCHC6	79670	broad.mit.edu	37	9	88961294	88961294	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr9:88961294C>G	ENST00000375963.3	-	3	794	c.622G>C	c.(622-624)Gta>Cta	p.V208L	ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.V208L|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.V208L|ZCCHC6_ENST00000375947.1_Missense_Mutation_p.V41L	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	208					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.V208L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GTTGAAAGTACAGACTCATCG	0.463																																						uc004aoq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(622-624)GTA>CTA		zinc finger, CCHC domain containing 6							256.0	230.0	239.0					9																	88961294		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88961294C>G	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.622G>C	9.37:g.88961294C>G	ENSP00000365130:p.Val208Leu					ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.V208L|ZCCHC6_uc004aou.2_Missense_Mutation_p.V208L|ZCCHC6_uc004aov.2_Missense_Mutation_p.V208L|ZCCHC6_uc004aow.2_Missense_Mutation_p.V208L	p.V208L	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN			3	837	-			208					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.622G>C	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920558	0.52653	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963;ENST00000427388;ENST00000375947	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	5.29	4.39	0.52855	.	0.574000	0.18092	N	0.151971	T	0.29321	0.0730	L	0.44542	1.39	0.22880	N	0.99862	B;B;B;B	0.27068	0.073;0.167;0.003;0.001	B;B;B;B	0.20955	0.032;0.032;0.003;0.001	T	0.14952	-1.0454	10	0.39692	T	0.17	-10.6323	10.5559	0.45117	0.1336:0.796:0.0:0.0704	.	208;208;208;208	Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;TUT7_HUMAN	L	208;208;208;41;41	ENSP00000365127:V208L;ENSP00000365128:V208L;ENSP00000365130:V208L;ENSP00000365114:V41L	ENSP00000365114:V41L	V	-	1	0	ZCCHC6	88151114	0.007000	0.16637	0.809000	0.32408	0.840000	0.47671	0.814000	0.27239	1.452000	0.47756	0.484000	0.47621	GTA		PASS	0.463	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		3	81	3	81	---	---	---	---
NFIL3	4783	broad.mit.edu	37	9	94172709	94172709	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr9:94172709T>C	ENST00000297689.3	-	2	702	c.308A>G	c.(307-309)aAc>aGc	p.N103S		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	103	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.N103S(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						AATTAGTTTGTTCTCTAAAAC	0.383																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	uc004arh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(307-309)AAC>AGC		nuclear factor, interleukin 3 regulated							185.0	194.0	191.0					9																	94172709		2203	4300	6503	SO:0001583	missense	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172709T>C	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.308A>G	9.37:g.94172709T>C	ENSP00000297689:p.Asn103Ser						p.N103S	NM_005384	NP_005375	Q16649	NFIL3_HUMAN			2	703	-			103			Leucine-zipper.		B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP	ENST00000297689.3	37	c.308A>G	CCDS6690.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.973557	0.53720	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	T	0.40225	1.04	5.19	5.19	0.71726	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.064498	0.64402	D	0.000020	T	0.28466	0.0704	N	0.11927	0.2	0.58432	D	0.99999	B	0.29341	0.242	B	0.33254	0.16	T	0.10894	-1.0610	10	0.23891	T	0.37	-20.7362	15.2021	0.73147	0.0:0.0:0.0:1.0	.	103	Q16649	NFIL3_HUMAN	S	103	ENSP00000297689:N103S	ENSP00000297689:N103S	N	-	2	0	NFIL3	93212530	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.622000	0.54217	2.179000	0.69175	0.459000	0.35465	AAC		PASS	0.383	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		14	174	14	174	---	---	---	---
NUTM2F	54754	broad.mit.edu	37	9	97088171	97088171	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr9:97088171G>T	ENST00000253262.4	-	2	82	c.62C>A	c.(61-63)tCc>tAc	p.S21Y	NUTM2F_ENST00000341207.4_Missense_Mutation_p.S21Y|NUTM2F_ENST00000335456.7_Missense_Mutation_p.S21Y	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	21								p.S21Y(1)									CACAGACAGGGAGGTGCCAGG	0.642																																						uc004aup.1																			1	Substitution - Missense(1)		lung(1)		0						c.(61-63)TCC>TAC		hypothetical protein LOC54754							21.0	23.0	22.0					9																	97088171		1955	4118	6073	SO:0001583	missense	54754							g.chr9:97088171G>T		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.62C>A	9.37:g.97088171G>T	ENSP00000253262:p.Ser21Tyr						p.S21Y	NM_017561	NP_060031	A1L443	FA22F_HUMAN			2	83	-		Acute lymphoblastic leukemia(62;0.136)	21					B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Missense_Mutation	SNP	ENST00000253262.4	37	c.62C>A	CCDS47994.1	.	.	.	.	.	.	.	.	.	.	g	10.94	1.493396	0.26774	.	.	ENSG00000130950	ENST00000335456;ENST00000253262;ENST00000341207;ENST00000375347	T;T;T	0.28069	1.63;1.63;1.63	1.2	-0.914	0.10497	Nuclear Testis  protein, N-terminal (1);	.	.	.	.	T	0.37679	0.1012	L	0.56769	1.78	0.09310	N	1	D	0.60575	0.988	P	0.56700	0.804	T	0.22695	-1.0209	9	0.72032	D	0.01	.	4.0745	0.09897	0.4664:0.0:0.5336:0.0	.	21	A1L443	FA22F_HUMAN	Y	21	ENSP00000335067:S21Y;ENSP00000253262:S21Y;ENSP00000343865:S21Y	ENSP00000253262:S21Y	S	-	2	0	FAM22F	96127992	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.174000	0.09839	-0.308000	0.08792	-0.467000	0.05162	TCC		PASS	0.642	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		23	2	23	2	---	---	---	---
INVS	27130	broad.mit.edu	37	9	103035213	103035213	+	Missense_Mutation	SNP	G	G	T	rs368682890		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr9:103035213G>T	ENST00000262457.2	+	12	1824	c.1639G>T	c.(1639-1641)Ggt>Tgt	p.G547C	INVS_ENST00000262456.2_Missense_Mutation_p.G547C|INVS_ENST00000541287.1_Missense_Mutation_p.G451C	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	547					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.G547C(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GTTGGAGCACGGTGCCCTGTC	0.463																																						uc004bap.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1639-1641)GGT>TGT		inversin isoform a							212.0	198.0	203.0					9																	103035213		2203	4300	6503	SO:0001583	missense	27130				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding	g.chr9:103035213G>T	AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.1639G>T	9.37:g.103035213G>T	ENSP00000262457:p.Gly547Cys					INVS_uc010mta.1_Missense_Mutation_p.G451C|INVS_uc011lve.1_Missense_Mutation_p.G451C|INVS_uc004bao.1_Missense_Mutation_p.G547C|INVS_uc004baq.1_Missense_Mutation_p.G451C|INVS_uc004bar.1_Missense_Mutation_p.G451C|INVS_uc010mtb.1_Missense_Mutation_p.G221C	p.G547C	NM_014425	NP_055240	Q9Y283	INVS_HUMAN			12	1851	+		Acute lymphoblastic leukemia(62;0.056)	547			ANK 16.		A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	ENST00000262457.2	37	c.1639G>T	CCDS6746.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426335	0.83667	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	T;T;T	0.28255	1.62;1.62;1.62	5.67	5.67	0.87782	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.57784	0.2077	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.987;0.991	T	0.61700	-0.7009	10	0.87932	D	0	.	13.9865	0.64339	0.0722:0.0:0.9278:0.0	.	451;547;547	F5GZH2;Q9Y283;Q9Y283-2	.;INVS_HUMAN;.	C	547;451;547	ENSP00000262457:G547C;ENSP00000444454:G451C;ENSP00000262456:G547C	ENSP00000262456:G547C	G	+	1	0	INVS	102075034	1.000000	0.71417	0.328000	0.25416	0.996000	0.88848	6.783000	0.75078	2.676000	0.91093	0.561000	0.74099	GGT		PASS	0.463	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		182	43	182	43	---	---	---	---
COL27A1	85301	broad.mit.edu	37	9	117027703	117027703	+	Splice_Site	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr9:117027703G>A	ENST00000356083.3	+	32	3732	c.3341G>A	c.(3340-3342)gGc>gAc	p.G1114D		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1114	Collagen-like 8.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.G1114D(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TCTCTGCAGGGCATCCCGGGT	0.592																																						uc011lxl.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(3340-3342)GGC>GAC		collagen, type XXVII, alpha 1 precursor							59.0	50.0	53.0					9																	117027703		2203	4300	6503	SO:0001630	splice_region_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117027703G>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3340-1G>A	9.37:g.117027703G>A						COL27A1_uc004bii.2_RNA	p.G1114D	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			32	3341	+			1114			Pro-rich.|Collagen-like 8.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.3341G>A	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.317460	0.60524	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.99619	-6.28	5.25	5.25	0.73442	.	.	.	.	.	D	0.99799	0.9914	H	0.98664	4.295	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.96895	0.9656	9	0.87932	D	0	.	14.3498	0.66694	0.0:0.0:1.0:0.0	.	1114	Q8IZC6	CORA1_HUMAN	D	1114	ENSP00000348385:G1114D	ENSP00000348385:G1114D	G	+	2	0	COL27A1	116067524	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.859000	0.62954	2.460000	0.83146	0.591000	0.81541	GGC		PASS	0.592	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	Missense_Mutation	3	50	3	50	---	---	---	---
DAB2IP	153090	broad.mit.edu	37	9	124535710	124535710	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr9:124535710G>C	ENST00000408936.3	+	12	3085	c.2903G>C	c.(2902-2904)aGg>aCg	p.R968T	DAB2IP_ENST00000309989.1_Missense_Mutation_p.R844T|DAB2IP_ENST00000259371.2_Missense_Mutation_p.R940T			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	968					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.R844T(1)|p.R940T(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						ACCCGCCTGAGGCAGCAGTCC	0.652																																						uc004bln.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(2818-2820)AGG>ACG		disabled homolog 2 interacting protein isoform							13.0	16.0	15.0					9																	124535710		2198	4297	6495	SO:0001583	missense	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124535710G>C	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.2903G>C	9.37:g.124535710G>C	ENSP00000386183:p.Arg968Thr					DAB2IP_uc004blo.2_Missense_Mutation_p.R844T|DAB2IP_uc004blp.2_Missense_Mutation_p.R373T	p.R940T	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN			12	2888	+			968					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37	c.2819G>C		.	.	.	.	.	.	.	.	.	.	G	18.31	3.595676	0.66219	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	4.7	4.7	0.59300	.	0.237534	0.39759	N	0.001274	T	0.35885	0.0947	M	0.77313	2.365	0.52099	D	0.99994	P;P	0.50617	0.827;0.937	P;P	0.59115	0.475;0.852	T	0.22312	-1.0220	10	0.62326	D	0.03	.	16.6356	0.85058	0.0:0.0:1.0:0.0	.	968;940	Q5VWQ8;G3XA90	DAB2P_HUMAN;.	T	940;968;877;844	ENSP00000259371:R940T;ENSP00000386183:R968T;ENSP00000362887:R877T;ENSP00000310827:R844T	ENSP00000259371:R940T	R	+	2	0	DAB2IP	123575531	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	7.243000	0.78219	2.169000	0.68431	0.313000	0.20887	AGG		PASS	0.652	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		9	1	9	1	---	---	---	---
GPR107	57720	broad.mit.edu	37	9	132887199	132887199	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr9:132887199A>G	ENST00000372406.1	+	17	1963	c.1456A>G	c.(1456-1458)Att>Gtt	p.I486V	GPR107_ENST00000347136.6_Missense_Mutation_p.I438V|GPR107_ENST00000372410.3_Missense_Mutation_p.I457V	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	486						integral component of membrane (GO:0016021)		p.I438V(1)		endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TCTAGCTGCTATTAACTTAGC	0.328																																						uc004bze.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1456-1458)ATT>GTT		G protein-coupled receptor 107 isoform 1							87.0	81.0	83.0					9																	132887199		2198	4297	6495	SO:0001583	missense	57720					integral to membrane		g.chr9:132887199A>G	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.1456A>G	9.37:g.132887199A>G	ENSP00000361483:p.Ile486Val					GPR107_uc004bzb.2_Missense_Mutation_p.I249V|GPR107_uc004bzc.3_RNA|GPR107_uc011mbx.1_Missense_Mutation_p.I457V|GPR107_uc004bzd.2_Missense_Mutation_p.I438V	p.I486V	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN			17	1683	+		Ovarian(14;0.000531)	486					A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Missense_Mutation	SNP	ENST00000372406.1	37	c.1456A>G	CCDS48041.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.510418	0.44660	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410	T;T;T	0.22539	2.61;1.95;1.95	5.01	5.01	0.66863	.	0.125962	0.51477	D	0.000099	T	0.15825	0.0381	N	0.20986	0.625	0.47341	D	0.999396	P;B;B	0.40794	0.729;0.334;0.25	P;B;B	0.44518	0.452;0.25;0.184	T	0.02115	-1.1211	10	0.02654	T	1	-12.7373	13.9015	0.63806	1.0:0.0:0.0:0.0	.	457;486;438	G5E994;Q5VW38;Q5VW38-2	.;GP107_HUMAN;.	V	486;438;457	ENSP00000361483:I486V;ENSP00000336988:I438V;ENSP00000361487:I457V	ENSP00000336988:I438V	I	+	1	0	GPR107	131927020	1.000000	0.71417	0.995000	0.50966	0.924000	0.55760	5.213000	0.65230	2.026000	0.59711	0.524000	0.50904	ATT		PASS	0.328	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2			6	0	6	0	---	---	---	---
GATA3	2625	broad.mit.edu	37	10	8100348	8100348	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr10:8100348A>T	ENST00000346208.3	+	3	777	c.322A>T	c.(322-324)Acc>Tcc	p.T108S	GATA3_ENST00000379328.3_Missense_Mutation_p.T108S			P23771	GATA3_HUMAN	GATA binding protein 3	108					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.T108S(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CAGCCACCACACCGCCTCCCC	0.692			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															uc001ika.2				Rec	yes		10	10p15	2625	F|N|S	GATA binding protein 3	yes	HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)	E			breast		1	Substitution - Missense(1)		lung(1)	breast(17)|ovary(3)|central_nervous_system(2)	22						c.(322-324)ACC>TCC		GATA binding protein 3 isoform 2							60.0	74.0	69.0					10																	8100348		2203	4300	6503	SO:0001583	missense	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8100348A>T	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.322A>T	10.37:g.8100348A>T	ENSP00000341619:p.Thr108Ser					GATA3_uc001ijz.2_Missense_Mutation_p.T108S	p.T108S	NM_002051	NP_002042	P23771	GATA3_HUMAN			3	879	+			108					Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	c.322A>T	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	A	0.017	-1.498686	0.01001	.	.	ENSG00000107485	ENST00000379328;ENST00000544011;ENST00000346208	D;D	0.95690	-3.78;-3.75	5.31	2.97	0.34412	.	0.380726	0.33631	N	0.004703	T	0.74749	0.3757	N	0.00138	-2.015	0.25931	N	0.982996	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.71248	-0.4649	10	0.02654	T	1	-18.8789	6.6025	0.22708	0.6722:0.1212:0.2067:0.0	.	108;108	P23771;P23771-2	GATA3_HUMAN;.	S	108	ENSP00000368632:T108S;ENSP00000341619:T108S	ENSP00000341619:T108S	T	+	1	0	GATA3	8140354	1.000000	0.71417	0.998000	0.56505	0.065000	0.16274	3.699000	0.54778	0.030000	0.15379	-1.447000	0.01057	ACC		PASS	0.692	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		41	22	41	22	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16981129	16981129	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr10:16981129T>C	ENST00000377833.4	-	38	5631	c.5566A>G	c.(5566-5568)Att>Gtt	p.I1856V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1856	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.I1856V(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTCCCACAATATTATCATTG	0.398																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(5566-5568)ATT>GTT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						112.0	103.0	106.0					10																	16981129		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16981129T>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5566A>G	10.37:g.16981129T>C	ENSP00000367064:p.Ile1856Val						p.I1856V	NM_001081	NP_001072	O60494	CUBN_HUMAN			38	5618	-			1856			CUB 13.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.5566A>G	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.568110	0.28003	.	.	ENSG00000107611	ENST00000377833	T	0.16743	2.32	5.12	5.12	0.69794	CUB (4);	0.000000	0.44902	D	0.000407	T	0.21631	0.0521	L	0.53561	1.675	0.80722	D	1	P	0.34615	0.459	B	0.38056	0.264	T	0.02070	-1.1219	10	0.39692	T	0.17	.	15.1945	0.73075	0.0:0.0:0.0:1.0	.	1856	O60494	CUBN_HUMAN	V	1856	ENSP00000367064:I1856V	ENSP00000367064:I1856V	I	-	1	0	CUBN	17021135	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	2.740000	0.47418	2.054000	0.61138	0.477000	0.44152	ATT		PASS	0.398	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		13	5	13	5	---	---	---	---
ARMC3	219681	broad.mit.edu	37	10	23244786	23244786	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr10:23244786A>T	ENST00000298032.5	+	4	301	c.217A>T	c.(217-219)Act>Tct	p.T73S	ARMC3_ENST00000376528.4_5'UTR|ARMC3_ENST00000409983.3_Missense_Mutation_p.T73S|ARMC3_ENST00000464017.1_3'UTR|ARMC3_ENST00000409049.3_Missense_Mutation_p.T73S	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	73						extracellular vesicular exosome (GO:0070062)		p.T73S(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGAACCTTTAACTAAGCTACT	0.348																																						uc001irm.3																			1	Substitution - Missense(1)		lung(1)		0						c.(217-219)ACT>TCT		armadillo repeat containing 3							101.0	98.0	99.0					10																	23244786		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23244786A>T	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.217A>T	10.37:g.23244786A>T	ENSP00000298032:p.Thr73Ser					ARMC3_uc010qcv.1_Missense_Mutation_p.T73S|ARMC3_uc010qcw.1_5'UTR|ARMC3_uc001irn.1_5'UTR	p.T73S	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN			4	300	+			73			ARM 2.		A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.217A>T	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	A	10.61	1.399270	0.25291	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049	T;T;T	0.68765	-0.35;-0.35;-0.35	5.36	2.88	0.33553	Armadillo-like helical (1);Armadillo-type fold (1);	0.358687	0.32785	N	0.005646	T	0.27134	0.0665	N	0.00538	-1.39	0.80722	D	1	B;B	0.21688	0.004;0.059	B;B	0.22152	0.012;0.038	T	0.03374	-1.1043	10	0.19590	T	0.45	-24.2014	4.8812	0.13681	0.5885:0.0:0.0898:0.3217	.	73;73	Q5W041-4;Q5W041	.;ARMC3_HUMAN	S	73	ENSP00000298032:T73S;ENSP00000386943:T73S;ENSP00000387288:T73S	ENSP00000298032:T73S	T	+	1	0	ARMC3	23284792	0.999000	0.42202	1.000000	0.80357	0.869000	0.49853	0.852000	0.27764	0.995000	0.38917	0.533000	0.62120	ACT		PASS	0.348	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		5	2	5	2	---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25887945	25887945	+	Silent	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr10:25887945G>A	ENST00000376351.3	+	11	3749	c.3390G>A	c.(3388-3390)gaG>gaA	p.E1130E	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1130					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E1130E(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAAAAACAGAGAATGAAAATC	0.473																																						uc001isj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(3388-3390)GAG>GAA		G protein-coupled receptor 158 precursor							90.0	92.0	91.0					10																	25887945		2203	4300	6503	SO:0001819	synonymous_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887945G>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3390G>A	10.37:g.25887945G>A						GPR158_uc001isk.2_Silent_p.E505E	p.E1130E	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	3450	+			1130			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	c.3390G>A	CCDS31166.1																																																																																				PASS	0.473	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		42	9	42	9	---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31749974	31749974	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr10:31749974T>A	ENST00000320985.10	+	2	177	c.67T>A	c.(67-69)Tat>Aat	p.Y23N	ZEB1_ENST00000542815.3_Intron|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.Y23N|ZEB1_ENST00000560721.2_Missense_Mutation_p.Y23N|ZEB1_ENST00000446923.2_Missense_Mutation_p.Y6N			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	23					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.Y23N(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)				AGTTACAAATTATAATACTGT	0.303																																					Ovarian(40;423 959 14296 36701 49589)	uc001ivs.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)	5						c.(67-69)TAT>AAT		zinc finger E-box binding homeobox 1 isoform b							54.0	54.0	54.0					10																	31749974		2203	4299	6502	SO:0001583	missense	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.chr10:31749974T>A	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.67T>A	10.37:g.31749974T>A	ENSP00000319248:p.Tyr23Asn					ZEB1_uc001ivr.3_5'UTR|ZEB1_uc010qee.1_5'UTR|ZEB1_uc010qef.1_5'UTR|ZEB1_uc009xlh.1_RNA|ZEB1_uc009xli.1_RNA|ZEB1_uc009xlj.1_Missense_Mutation_p.Y23N|ZEB1_uc010qeg.1_Intron|ZEB1_uc009xlk.1_5'UTR|ZEB1_uc001ivt.3_5'UTR|ZEB1_uc001ivu.3_Missense_Mutation_p.Y23N|ZEB1_uc001ivv.3_Missense_Mutation_p.Y23N|ZEB1_uc010qeh.1_Intron|ZEB1_uc009xll.2_RNA|ZEB1_uc009xlm.1_RNA|ZEB1_uc009xln.1_RNA|ZEB1_uc009xlo.1_Missense_Mutation_p.Y6N|ZEB1_uc009xlp.2_Missense_Mutation_p.Y6N	p.Y23N	NM_030751	NP_110378	P37275	ZEB1_HUMAN			2	130	+		Prostate(175;0.0156)	23					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.67T>A	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.287875	0.80803	.	.	ENSG00000148516	ENST00000537225;ENST00000361642;ENST00000546250;ENST00000320985;ENST00000437844;ENST00000424869;ENST00000446923	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0	5.46	5.46	0.80206	.	0.334157	0.25233	N	0.032160	D	0.95692	0.8599	M	0.74881	2.28	0.58432	D	0.999995	D;D;D;D;D;D	0.89917	0.999;0.999;0.998;1.0;0.998;0.998	D;D;D;D;D;D	0.80764	0.981;0.973;0.991;0.987;0.994;0.994	D	0.96137	0.9097	10	0.87932	D	0	-13.6885	15.5476	0.76118	0.0:0.0:0.0:1.0	.	6;23;23;23;23;23	E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;ZEB1_HUMAN	N	23;23;23;23;23;23;6	ENSP00000354487:Y23N;ENSP00000319248:Y23N;ENSP00000415961:Y23N;ENSP00000391612:Y6N	ENSP00000319248:Y23N	Y	+	1	0	ZEB1	31789980	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.540000	0.73861	2.074000	0.62210	0.454000	0.30748	TAT		PASS	0.303	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		8	2	8	2	---	---	---	---
ZNF22	7570	broad.mit.edu	37	10	45499441	45499441	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr10:45499441C>G	ENST00000298299.3	+	2	1218	c.625C>G	c.(625-627)Ccc>Gcc	p.P209A	CEP164P1_ENST00000456938.2_RNA	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	209					odontogenesis (GO:0042476)|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.P209A(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				GACTCACTTACCCTCTTGGAA	0.438																																						uc001jbw.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|kidney(1)	2						c.(625-627)CCC>GCC		zinc finger protein 22 (KOX 15)							57.0	65.0	63.0					10																	45499441		2203	4300	6503	SO:0001583	missense	7570				odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|plasma membrane	DNA binding|zinc ion binding	g.chr10:45499441C>G	BC041139	CCDS7211.1	10q11	2013-01-08	2012-07-12		ENSG00000165512	ENSG00000165512		"""Zinc fingers, C2H2-type"""	13012	protein-coding gene	gene with protein product		194529					Standard	NM_006963		Approved	KOX15, HKR-T1, ZNF422, Zfp422	uc001jbw.3	P17026	OTTHUMG00000018064	ENST00000298299.3:c.625C>G	10.37:g.45499441C>G	ENSP00000298299:p.Pro209Ala					uc001jbx.1_RNA	p.P209A	NM_006963	NP_008894	P17026	ZNF22_HUMAN			2	868	+		Prostate(175;0.0352)|all_neural(218;0.202)	209					Q5T741|Q96FM4	Missense_Mutation	SNP	ENST00000298299.3	37	c.625C>G	CCDS7211.1	.	.	.	.	.	.	.	.	.	.	C	0.166	-1.076467	0.01903	.	.	ENSG00000165512	ENST00000298299	T	0.07216	3.21	4.33	-4.96	0.03038	.	1.597690	0.03846	N	0.271432	T	0.03305	0.0096	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37619	-0.9698	10	0.22706	T	0.39	1.3625	1.0057	0.01486	0.2323:0.136:0.1186:0.5131	.	209	P17026	ZNF22_HUMAN	A	209	ENSP00000298299:P209A	ENSP00000298299:P209A	P	+	1	0	ZNF22	44819447	0.768000	0.28519	0.000000	0.03702	0.191000	0.23601	-0.022000	0.12480	-1.085000	0.03088	-0.812000	0.03155	CCC		PASS	0.438	ZNF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047761.1	NM_006963		38	1	38	1	---	---	---	---
IPMK	253430	broad.mit.edu	37	10	59955890	59955890	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr10:59955890C>T	ENST00000373935.3	-	6	1520	c.1198G>A	c.(1198-1200)Gtt>Att	p.V400I		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	400					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)	p.V400I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						AGCCCATAAACATATCCCTCA	0.393																																						uc001jkb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1198-1200)GTT>ATT		inositol polyphosphate multikinase							95.0	95.0	95.0					10																	59955890		2203	4300	6503	SO:0001583	missense	253430					nucleus	ATP binding|inositol trisphosphate 6-kinase activity	g.chr10:59955890C>T	AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.1198G>A	10.37:g.59955890C>T	ENSP00000363046:p.Val400Ile						p.V400I	NM_152230	NP_689416	Q8NFU5	IPMK_HUMAN			6	1521	-			400						Missense_Mutation	SNP	ENST00000373935.3	37	c.1198G>A	CCDS7250.1	.	.	.	.	.	.	.	.	.	.	C	7.462	0.644882	0.14451	.	.	ENSG00000151151	ENST00000373935	T	0.14640	2.49	6.07	5.17	0.71159	.	0.056402	0.64402	D	0.000001	T	0.09113	0.0225	N	0.20401	0.57	0.28931	N	0.891573	B	0.09022	0.002	B	0.12837	0.008	T	0.19516	-1.0303	9	.	.	.	-5.1372	11.0832	0.48072	0.0:0.9157:0.0:0.0843	.	400	Q8NFU5	IPMK_HUMAN	I	400	ENSP00000363046:V400I	.	V	-	1	0	IPMK	59625896	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.424000	0.44714	1.575000	0.49775	0.585000	0.79938	GTT		PASS	0.393	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230		43	47	43	47	---	---	---	---
CCAR1	55749	broad.mit.edu	37	10	70513633	70513633	+	Silent	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr10:70513633A>G	ENST00000265872.6	+	11	1262	c.1143A>G	c.(1141-1143)ctA>ctG	p.L381L	SNORD98_ENST00000408255.1_RNA|CCAR1_ENST00000543719.1_Silent_p.L366L|CCAR1_ENST00000535016.1_Silent_p.L366L	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	381					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.L381L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TGATGGAACTAAGGCGCCGTT	0.353																																						uc001joo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|large_intestine(1)	7						c.(1141-1143)CTA>CTG		cell-cycle and apoptosis regulatory protein 1							160.0	164.0	163.0					10																	70513633		2203	4300	6503	SO:0001819	synonymous_variant	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70513633A>G	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1143A>G	10.37:g.70513633A>G						CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Silent_p.L186L|CCAR1_uc009xpx.1_Silent_p.L355L|CCAR1_uc001jon.1_Silent_p.L327L|CCAR1_uc010qiz.1_Silent_p.L366L|CCAR1_uc010qja.1_Silent_p.L366L|CCAR1_uc010qjb.1_RNA|SNORD98_uc001jop.1_5'Flank	p.L381L	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN			11	1262	+			381					A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Silent	SNP	ENST00000265872.6	37	c.1143A>G	CCDS7282.1																																																																																				PASS	0.353	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		75	94	75	94	---	---	---	---
BMPR1A	657	broad.mit.edu	37	10	88676951	88676951	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr10:88676951G>C	ENST00000372037.3	+	9	1273	c.736G>C	c.(736-738)Gga>Cga	p.G246R		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	246	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.G246R(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						AGGCCGATATGGAGAAGTATG	0.428			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												Ovarian(190;603 2086 22044 30335 47971)	uc001kdy.2			yes	Rec		Juvenile polyposis	10	10q22.3	657	Mis|N|F	"""bone morphogenetic protein receptor, type IA"""			E		gastrointestinal polyps			2	Substitution - Missense(2)		lung(2)	lung(3)|large_intestine(1)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	8						c.(736-738)GGA>CGA		bone morphogenetic protein receptor, type IA							46.0	44.0	45.0					10																	88676951		2203	4297	6500	SO:0001583	missense	657	Hereditary_Mixed_Polyposis_syndrome_type_2|Juvenile_Polyposis	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity	g.chr10:88676951G>C	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"""CD molecules"""	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.736G>C	10.37:g.88676951G>C	ENSP00000361107:p.Gly246Arg						p.G246R	NM_004329	NP_004320	P36894	BMR1A_HUMAN			9	1284	+			246			Cytoplasmic (Potential).|Protein kinase.|ATP (By similarity).		A8K6U9|Q8NEN8	Missense_Mutation	SNP	ENST00000372037.3	37	c.736G>C	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	G	34	5.316445	0.95655	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	T	0.80738	-1.41	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94814	0.8325	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96554	0.9410	10	0.87932	D	0	.	20.0401	0.97581	0.0:0.0:1.0:0.0	.	246	P36894	BMR1A_HUMAN	R	246	ENSP00000361107:G246R	ENSP00000224764:G246R	G	+	1	0	BMPR1A	88666931	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	GGA		PASS	0.428	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329		11	14	11	14	---	---	---	---
SLIT1	6585	broad.mit.edu	37	10	98808756	98808756	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr10:98808756T>A	ENST00000266058.4	-	14	1666	c.1421A>T	c.(1420-1422)aAc>aTc	p.N474I	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.N474I	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	474	LRRCT 2.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.N474I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GATGCGCTTGTTGGCGAGGCG	0.632																																						uc001kmw.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1420-1422)AAC>ATC		slit homolog 1 precursor							102.0	89.0	94.0					10																	98808756		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98808756T>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1421A>T	10.37:g.98808756T>A	ENSP00000266058:p.Asn474Ile					SLIT1_uc009xvh.1_Missense_Mutation_p.N484I	p.N474I	NM_003061	NP_003052	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	14	1673	-		Colorectal(252;0.162)	474			LRRCT 2.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.1421A>T	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.617014	0.87359	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	D;D;T	0.81659	-1.52;-1.51;0.7	5.14	5.14	0.70334	Cysteine-rich flanking region, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.88731	0.6516	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	0.99;1.0	D;D	0.91635	0.99;0.999	D	0.90070	0.4162	10	0.87932	D	0	.	15.1227	0.72457	0.0:0.0:0.0:1.0	.	484;474	E7EWQ8;O75093	.;SLIT1_HUMAN	I	474;484;474;467	ENSP00000266058:N474I;ENSP00000360109:N474I;ENSP00000315005:N467I	ENSP00000266058:N474I	N	-	2	0	SLIT1	98798746	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.864000	0.87037	2.151000	0.67156	0.455000	0.32223	AAC		PASS	0.632	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		120	24	120	24	---	---	---	---
RRP12	23223	broad.mit.edu	37	10	99130284	99130284	+	Missense_Mutation	SNP	C	C	T	rs145302632	byFrequency	TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr10:99130284C>T	ENST00000370992.4	-	23	2728	c.2617G>A	c.(2617-2619)Gca>Aca	p.A873T	RRP12_ENST00000536831.1_Missense_Mutation_p.A591T|RRP12_ENST00000315563.6_Missense_Mutation_p.A773T|RRP12_ENST00000414986.1_Missense_Mutation_p.A812T|RRP12_ENST00000479481.1_5'UTR	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	873						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.A873T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TTCTTCCGTGCGCCCACCGAC	0.607													C|||	2	0.000399361	0.0	0.0029	5008	,	,		20003	0.0		0.0	False		,,,				2504	0.0					uc001knf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2617-2619)GCA>ACA		ribosomal RNA processing 12 homolog isoform 1							118.0	89.0	99.0					10																	99130284		2203	4300	6503	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99130284C>T		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2617G>A	10.37:g.99130284C>T	ENSP00000360031:p.Ala873Thr					RRP12_uc009xvl.2_5'UTR|RRP12_uc009xvm.2_Missense_Mutation_p.A591T|RRP12_uc010qou.1_Missense_Mutation_p.A812T|RRP12_uc009xvn.2_Missense_Mutation_p.A773T	p.A873T	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	23	2756	-		Colorectal(252;0.162)	873					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.2617G>A	CCDS7457.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.47	3.396502	0.62177	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	4.71	4.71	0.59529	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69115	0.3075	L	0.42686	1.345	0.80722	D	1	D;P;D;D	0.89917	1.0;0.854;1.0;0.995	D;B;D;P	0.97110	1.0;0.411;0.984;0.797	T	0.63629	-0.6594	10	0.02654	T	1	-13.3083	17.6528	0.88169	0.0:1.0:0.0:0.0	.	812;773;591;873	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	T	873;773;812;591	ENSP00000360031:A873T;ENSP00000324315:A773T;ENSP00000414863:A812T;ENSP00000446184:A591T	ENSP00000324315:A773T	A	-	1	0	RRP12	99120274	1.000000	0.71417	0.593000	0.28771	0.277000	0.26821	7.521000	0.81832	2.174000	0.68829	0.313000	0.20887	GCA		PASS	0.607	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		32	11	32	11	---	---	---	---
GBF1	8729	broad.mit.edu	37	10	104140082	104140082	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr10:104140082T>C	ENST00000369983.3	+	37	5212	c.4952T>C	c.(4951-4953)aTg>aCg	p.M1651T		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1651					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.M1651T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TTGGACTTCATGGACAAGTAC	0.572																																						uc001kux.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(4951-4953)ATG>ACG		golgi-specific brefeldin A resistant guanine							161.0	148.0	153.0					10																	104140082		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104140082T>C	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4952T>C	10.37:g.104140082T>C	ENSP00000359000:p.Met1651Thr					GBF1_uc001kuy.1_Missense_Mutation_p.M1647T|GBF1_uc001kuz.1_Missense_Mutation_p.M1648T	p.M1651T	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	37	5192	+		Colorectal(252;0.0236)	1651					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.4952T>C	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.343448	0.82022	.	.	ENSG00000107862	ENST00000369983	T	0.13089	2.62	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	M	0.76727	2.345	0.80722	D	1	D;D;P	0.65815	0.984;0.995;0.932	P;P;P	0.58391	0.632;0.766;0.838	T	0.06516	-1.0822	10	0.62326	D	0.03	-19.1453	16.3483	0.83171	0.0:0.0:0.0:1.0	.	1647;1647;1651	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	T	1651	ENSP00000359000:M1651T	ENSP00000359000:M1651T	M	+	2	0	GBF1	104130072	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.886000	0.87288	2.254000	0.74563	0.533000	0.62120	ATG		PASS	0.572	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			108	17	108	17	---	---	---	---
NEURL1	9148	broad.mit.edu	37	10	105344807	105344807	+	Silent	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr10:105344807C>T	ENST00000369780.4	+	4	1573	c.1164C>T	c.(1162-1164)cgC>cgT	p.R388R	NEURL_ENST00000369777.2_Silent_p.R371R	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		388	NHR 2. {ECO:0000255|PROSITE- ProRule:PRU00400}.				brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R388R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CCGTGTGCCGCGTGCCCGGGC	0.731																																						uc001kxh.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1162-1164)CGC>CGT		neuralized-like							8.0	7.0	7.0					10																	105344807		2017	4049	6066	SO:0001819	synonymous_variant	9148				nervous system development	perinuclear region of cytoplasm	zinc ion binding	g.chr10:105344807C>T																												ENST00000369780.4:c.1164C>T	10.37:g.105344807C>T							p.R388R	NM_004210	NP_004201	O76050	NEU1A_HUMAN		Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)	4	1574	+			388			NHR 2.		Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Silent	SNP	ENST00000369780.4	37	c.1164C>T	CCDS7551.1																																																																																				PASS	0.731	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			8	4	8	4	---	---	---	---
PHRF1	57661	broad.mit.edu	37	11	608235	608235	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:608235G>T	ENST00000264555.5	+	14	2907	c.2779G>T	c.(2779-2781)Ggc>Tgc	p.G927C	PHRF1_ENST00000413872.2_Missense_Mutation_p.G925C|PHRF1_ENST00000416188.2_Missense_Mutation_p.G926C|PHRF1_ENST00000533464.1_Missense_Mutation_p.G923C	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	927					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)	p.G927C(1)|p.G932C(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						AGAGAGCCAGGGCCTGGCTGC	0.697																																						uc001lqe.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2779-2781)GGC>TGC		PHD and ring finger domains 1							17.0	21.0	20.0					11																	608235		1931	4092	6023	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:608235G>T	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2779G>T	11.37:g.608235G>T	ENSP00000264555:p.Gly927Cys					PHRF1_uc010qwc.1_Missense_Mutation_p.G926C|PHRF1_uc010qwd.1_Missense_Mutation_p.G925C|PHRF1_uc010qwe.1_Missense_Mutation_p.G923C|PHRF1_uc009ybz.1_Missense_Mutation_p.G717C|PHRF1_uc009yca.1_RNA	p.G927C	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			14	2910	+			927					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.2779G>T		.	.	.	.	.	.	.	.	.	.	G	10.16	1.274564	0.23307	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	4.19	0.984	0.19773	.	0.612517	0.13503	N	0.383134	T	0.59542	0.2201	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.17038	0.012;0.02;0.02;0.012	B;B;B;B	0.17098	0.007;0.017;0.017;0.007	T	0.52034	-0.8629	10	0.62326	D	0.03	-9.7076	3.1062	0.06342	0.105:0.1368:0.5125:0.2457	.	923;925;926;927	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	C	927;925;926;923	ENSP00000264555:G927C;ENSP00000388589:G925C;ENSP00000410626:G926C;ENSP00000431870:G923C	ENSP00000264555:G927C	G	+	1	0	PHRF1	598235	0.015000	0.18098	0.006000	0.13384	0.248000	0.25809	1.989000	0.40707	0.766000	0.33244	0.555000	0.69702	GGC		PASS	0.697	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		19	20	19	20	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1016682	1016682	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:1016682G>A	ENST00000421673.2	-	31	6169	c.6119C>T	c.(6118-6120)tCa>tTa	p.S2040L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2040	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.S2040L(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)		TGTTGGCGTTGAGTGGATGGA	0.567																																						uc001lsw.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(6118-6120)TCA>TTA		mucin 6, gastric							551.0	514.0	526.0					11																	1016682		2203	4295	6498	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016682G>A	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.6119C>T	11.37:g.1016682G>A	ENSP00000406861:p.Ser2040Leu						p.S2040L	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	6170	-		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)	2040			Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.6119C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.719321	0.48728	.	.	ENSG00000184956	ENST00000421673	T	0.28069	1.63	2.18	2.18	0.27775	.	.	.	.	.	T	0.22205	0.0535	L	0.29908	0.895	0.09310	N	1	B	0.22746	0.074	B	0.21360	0.034	T	0.17198	-1.0377	9	0.36615	T	0.2	.	10.4222	0.44356	0.0:0.0:1.0:0.0	.	2040	Q6W4X9	MUC6_HUMAN	L	2040	ENSP00000406861:S2040L	ENSP00000406861:S2040L	S	-	2	0	MUC6	1006682	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-4.560000	0.00215	1.177000	0.42855	0.313000	0.20887	TCA		PASS	0.567	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		69	614	69	614	---	---	---	---
MUC2	4583	broad.mit.edu	37	11	1097313	1097313	+	Silent	SNP	C	C	T	rs373651260		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:1097313C>T	ENST00000441003.2	+	35	6756	c.6729C>T	c.(6727-6729)ttC>ttT	p.F2243F	MUC2_ENST00000361558.6_Silent_p.F381F	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4605					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.F2243L(1)|p.F2243F(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)	GCCTGTCCTTCTCCGTCAGGC	0.627																																						uc001lsx.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	lung(1)|breast(1)	2						c.(13813-13815)TTC>TTT		mucin 2 precursor	Pranlukast(DB01411)	C		0,4262		0,0,2131	80.0	91.0	87.0		6714	3.5	0.6	11		87	1,8455		0,1,4227	no	coding-synonymous	MUC2	NM_002457.2		0,1,6358	TT,TC,CC		0.0118,0.0,0.0079		2238/2813	1097313	1,12717	2131	4228	6359	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1097313C>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.6729C>T	11.37:g.1097313C>T							p.F4605F	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)	38	13842	+		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)	4605			VWFD 4.		Q14878	Silent	SNP	ENST00000441003.2	37	c.13815C>T																																																																																					PASS	0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		20	39	20	39	---	---	---	---
OR52W1	120787	broad.mit.edu	37	11	6220626	6220626	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:6220626C>A	ENST00000311352.2	+	1	251	c.173C>A	c.(172-174)tCc>tAc	p.S58Y	RP11-290F24.6_ENST00000600308.1_lincRNA	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S58Y(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGATAGACTCCACACTGCAC	0.587																																						uc010qzz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(172-174)TCC>TAC		olfactory receptor, family 52, subfamily W,							56.0	48.0	51.0					11																	6220626		2201	4296	6497	SO:0001583	missense	120787				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6220626C>A	AB065511	CCDS31407.1	11p15.4	2012-08-09		2004-03-10	ENSG00000175485	ENSG00000175485		"""GPCR / Class A : Olfactory receptors"""	15239	protein-coding gene	gene with protein product				OR52W1P			Standard	NM_001005178		Approved		uc010qzz.2	Q6IF63	OTTHUMG00000165378	ENST00000311352.2:c.173C>A	11.37:g.6220626C>A	ENSP00000309673:p.Ser58Tyr						p.S58Y	NM_001005178	NP_001005178	Q6IF63	O52W1_HUMAN		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	173	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	58			Cytoplasmic (Potential).		Q8NH78	Missense_Mutation	SNP	ENST00000311352.2	37	c.173C>A	CCDS31407.1	.	.	.	.	.	.	.	.	.	.	C	9.748	1.166624	0.21621	.	.	ENSG00000175485	ENST00000311352	T	0.04454	3.62	5.92	5.92	0.95590	GPCR, rhodopsin-like superfamily (1);	0.520127	0.14426	U	0.320307	T	0.05868	0.0153	M	0.70787	2.145	0.09310	N	1	P	0.44877	0.845	B	0.31751	0.135	T	0.46992	-0.9151	10	0.66056	D	0.02	.	5.4639	0.16632	0.1474:0.6357:0.1419:0.0749	.	58	Q6IF63	O52W1_HUMAN	Y	58	ENSP00000309673:S58Y	ENSP00000309673:S58Y	S	+	2	0	OR52W1	6177202	0.000000	0.05858	0.031000	0.17742	0.033000	0.12548	-0.348000	0.07740	2.804000	0.96469	0.655000	0.94253	TCC		PASS	0.587	OR52W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383758.1	NM_001005178		25	14	25	14	---	---	---	---
OR10A4	283297	broad.mit.edu	37	11	6898684	6898684	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:6898684C>A	ENST00000379829.2	+	1	829	c.806C>A	c.(805-807)tCt>tAt	p.S269Y		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	269					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S269Y(1)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTGCCTCTTCTGAGAGCAAG	0.512																																						uc010rat.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(805-807)TCT>TAT		olfactory receptor, family 10, subfamily A,							152.0	133.0	140.0					11																	6898684		2201	4296	6497	SO:0001583	missense	283297				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6898684C>A	AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"""GPCR / Class A : Olfactory receptors"""	15130	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily A, member 4 pseudogene"""	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.806C>A	11.37:g.6898684C>A	ENSP00000369157:p.Ser269Tyr						p.S269Y	NM_207186	NP_997069	Q9H209	O10A4_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	806	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	269			Extracellular (Potential).		B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	ENST00000379829.2	37	c.806C>A	CCDS7774.1	.	.	.	.	.	.	.	.	.	.	c	10.15	1.271067	0.23221	.	.	ENSG00000170782	ENST00000379829	T	0.00169	8.63	4.22	2.33	0.28932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000441	T	0.00241	0.0007	L	0.47190	1.495	0.20196	N	0.999921	P	0.39376	0.67	P	0.49226	0.603	T	0.34329	-0.9833	10	0.72032	D	0.01	.	4.59	0.12302	0.0:0.6213:0.1826:0.196	.	269	Q9H209	O10A4_HUMAN	Y	269	ENSP00000369157:S269Y	ENSP00000369157:S269Y	S	+	2	0	OR10A4	6855260	0.000000	0.05858	0.998000	0.56505	0.558000	0.35554	0.093000	0.15086	0.715000	0.32103	0.651000	0.88453	TCT		PASS	0.512	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		62	49	62	49	---	---	---	---
NLRP14	338323	broad.mit.edu	37	11	7083670	7083670	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:7083670G>A	ENST00000299481.4	+	10	3257	c.2911G>A	c.(2911-2913)Gat>Aat	p.D971N		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	971					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.D971N(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CGATTTGCAGGATGATGGAGT	0.433																																						uc001mfb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(2911-2913)GAT>AAT		NLR family, pyrin domain containing 14							162.0	153.0	156.0					11																	7083670		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7083670G>A	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2911G>A	11.37:g.7083670G>A	ENSP00000299481:p.Asp971Asn						p.D971N	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	10	3234	+			971			LRR 9.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.2911G>A	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946113	0.53079	.	.	ENSG00000158077	ENST00000299481	T	0.70399	-0.48	4.84	1.96	0.26148	.	0.000000	0.43260	D	0.000584	T	0.72391	0.3454	L	0.42008	1.315	0.32632	N	0.521883	D	0.89917	1.0	D	0.91635	0.999	T	0.71024	-0.4712	10	0.20046	T	0.44	.	6.8309	0.23909	0.2912:0.0:0.7088:0.0	.	971	Q86W24	NAL14_HUMAN	N	971	ENSP00000299481:D971N	ENSP00000299481:D971N	D	+	1	0	NLRP14	7040246	1.000000	0.71417	0.567000	0.28434	0.524000	0.34500	2.944000	0.49034	0.351000	0.24027	-0.136000	0.14681	GAT		PASS	0.433	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		13	52	13	52	---	---	---	---
RAG1	5896	broad.mit.edu	37	11	36595199	36595199	+	Silent	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:36595199G>T	ENST00000299440.5	+	2	457	c.345G>T	c.(343-345)ggG>ggT	p.G115G		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	115	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G115G(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GCATCTGTGGGAATTCTTTTA	0.458									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(343-345)GGG>GGT		recombination activating gene 1							113.0	107.0	109.0					11																	36595199		2202	4298	6500	SO:0001819	synonymous_variant	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595199G>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.345G>T	11.37:g.36595199G>T						RAG1_uc001mwt.2_RNA	p.G115G	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	469	+	all_lung(20;0.226)	all_hematologic(20;0.107)	115			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Silent	SNP	ENST00000299440.5	37	c.345G>T	CCDS7902.1																																																																																				PASS	0.458	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		28	76	28	76	---	---	---	---
SLC35C1	55343	broad.mit.edu	37	11	45827872	45827872	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:45827872T>G	ENST00000314134.3	+	1	1916	c.520T>G	c.(520-522)Tgc>Ggc	p.C174G	SLC35C1_ENST00000442528.2_Missense_Mutation_p.C161G|SLC35C1_ENST00000456334.1_Missense_Mutation_p.C161G	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	174					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)		p.C174G(1)		endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		CCTGCTCACCTGCGGTATCAT	0.572																																						uc001nbp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(520-522)TGC>GGC		GDP-fucose transporter 1 isoform a							57.0	42.0	47.0					11																	45827872		2203	4299	6502	SO:0001583	missense	55343					Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity	g.chr11:45827872T>G		CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"""Solute carriers"""	20197	protein-coding gene	gene with protein product		605881	"""solute carrier family 35, member C1"""			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.520T>G	11.37:g.45827872T>G	ENSP00000313318:p.Cys174Gly					SLC35C1_uc001nbo.2_Missense_Mutation_p.C161G|SLC35C1_uc010rgm.1_Missense_Mutation_p.C161G	p.C174G	NM_018389	NP_060859	Q96A29	FUCT1_HUMAN		GBM - Glioblastoma multiforme(35;0.227)	1	1232	+			174			Helical; (Potential).		B2RDB2|Q9BV76|Q9NUJ8	Missense_Mutation	SNP	ENST00000314134.3	37	c.520T>G	CCDS7914.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.666781	0.88251	.	.	ENSG00000181830	ENST00000442528;ENST00000456334;ENST00000530670;ENST00000314134;ENST00000530471;ENST00000540685	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	4.71	4.71	0.59529	Drug/metabolite transporter (1);	0.000000	0.85682	D	0.000000	T	0.72732	0.3497	M	0.90705	3.14	0.80722	D	1	D	0.64830	0.994	D	0.68765	0.96	T	0.79867	-0.1622	10	0.87932	D	0	-28.6644	14.2081	0.65748	0.0:0.0:0.0:1.0	.	174	Q96A29	FUCT1_HUMAN	G	161;161;95;174;161;174	ENSP00000412408:C161G;ENSP00000399779:C161G;ENSP00000313318:C174G;ENSP00000432669:C161G	ENSP00000313318:C174G	C	+	1	0	SLC35C1	45784448	1.000000	0.71417	0.990000	0.47175	0.964000	0.63967	6.271000	0.72569	1.767000	0.52121	0.460000	0.39030	TGC		PASS	0.572	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390139.1	NM_018389		14	37	14	37	---	---	---	---
SPI1	6688	broad.mit.edu	37	11	47380482	47380482	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:47380482C>T	ENST00000378538.3	-	4	628	c.406G>A	c.(406-408)Ggc>Agc	p.G136S	SPI1_ENST00000227163.4_Missense_Mutation_p.G137S|SPI1_ENST00000533968.1_Missense_Mutation_p.G136S|SPI1_ENST00000533030.1_Intron	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	Spi-1 proto-oncogene	136					anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|histone H3 acetylation (GO:0043966)|hypermethylation of CpG island (GO:0044027)|lymphocyte differentiation (GO:0030098)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of erythrocyte differentiation (GO:0045646)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somatic stem cell maintenance (GO:0035019)	nuclear chromatin (GO:0000790)	core promoter binding (GO:0001047)|NFAT protein binding (GO:0051525)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G130S(1)		central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		TGCCGCTCGCCCTCCTCCTCA	0.701																																						uc001nfc.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(406-408)GGC>AGC		hematopoietic transcription factor PU.1 isoform							16.0	16.0	16.0					11																	47380482		2196	4292	6488	SO:0001583	missense	6688				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:47380482C>T	X52056	CCDS7933.2, CCDS44591.1	11p12-p11.22	2014-06-25	2014-06-25		ENSG00000066336	ENSG00000066336			11241	protein-coding gene	gene with protein product	"""hematopoietic transcription factor PU.1"", ""31 kDa transforming protein"""	165170	"""spleen focus forming virus (SFFV) proviral integration oncogene"""			1693183	Standard	NM_003120		Approved	PU.1, SPI-A, OF, SFPI1, SPI-1	uc001nfb.1	P17947	OTTHUMG00000150150	ENST00000378538.3:c.406G>A	11.37:g.47380482C>T	ENSP00000367799:p.Gly136Ser					SPI1_uc001nfb.1_Missense_Mutation_p.G137S|SLC39A13_uc001nfd.2_Intron|SPI1_uc009ylp.1_Missense_Mutation_p.G130S	p.G136S	NM_003120	NP_003111	P17947	SPI1_HUMAN		Lung(87;0.0967)	4	629	-			136						Missense_Mutation	SNP	ENST00000378538.3	37	c.406G>A	CCDS7933.2	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121129	0.37436	.	.	ENSG00000066336	ENST00000378538;ENST00000227163;ENST00000533968	T;T;T	0.31510	1.49;1.49;1.49	4.43	4.43	0.53597	.	0.381606	0.29480	N	0.012033	T	0.24044	0.0582	L	0.44542	1.39	0.26319	N	0.9777	P;B;B	0.38078	0.617;0.005;0.089	B;B;B	0.39660	0.306;0.017;0.046	T	0.09773	-1.0659	10	0.22109	T	0.4	-10.95	6.5502	0.22429	0.0:0.5549:0.3432:0.1019	.	136;136;137	F5H3K6;P17947;P17947-2	.;SPI1_HUMAN;.	S	136;137;136	ENSP00000367799:G136S;ENSP00000227163:G137S;ENSP00000438846:G136S	ENSP00000227163:G137S	G	-	1	0	SPI1	47337058	1.000000	0.71417	0.967000	0.41034	0.995000	0.86356	3.513000	0.53414	2.005000	0.58758	0.561000	0.74099	GGC		PASS	0.701	SPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316571.1	NM_003120		8	11	8	11	---	---	---	---
OR4A15	81328	broad.mit.edu	37	11	55136330	55136330	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:55136330G>T	ENST00000314706.3	+	1	971	c.971G>T	c.(970-972)aGt>aTt	p.S324I		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	324						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S324I(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						GAAATGAAAAGTGCCATGAGG	0.378																																						uc010rif.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(970-972)AGT>ATT		olfactory receptor, family 4, subfamily A,							114.0	117.0	116.0					11																	55136330		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55136330G>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.971G>T	11.37:g.55136330G>T	ENSP00000325065:p.Ser324Ile						p.S324I	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	971	+			324			Cytoplasmic (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.971G>T	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	4.815	0.151537	0.09185	.	.	ENSG00000181958	ENST00000314706	T	0.38401	1.14	3.65	-2.12	0.07165	.	0.238358	0.29300	N	0.012560	T	0.19525	0.0469	N	0.25825	0.765	0.09310	N	0.99999	B	0.13594	0.008	B	0.10450	0.005	T	0.07947	-1.0746	10	0.56958	D	0.05	.	5.1978	0.15246	0.3954:0.1762:0.4284:0.0	.	324	Q8NGL6	O4A15_HUMAN	I	324	ENSP00000325065:S324I	ENSP00000325065:S324I	S	+	2	0	OR4A15	54892906	0.000000	0.05858	0.212000	0.23672	0.249000	0.25844	-1.027000	0.03592	-0.667000	0.05303	-1.398000	0.01145	AGT		PASS	0.378	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		42	45	42	45	---	---	---	---
OR8H2	390151	broad.mit.edu	37	11	55872754	55872754	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:55872754C>A	ENST00000313503.1	+	1	236	c.236C>A	c.(235-237)aCa>aAa	p.T79K		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T79K(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ACTGTCGTCACACCTAAAACC	0.423										HNSCC(53;0.14)																												uc010riy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(235-237)ACA>AAA		olfactory receptor, family 8, subfamily H,							259.0	259.0	259.0					11																	55872754		2201	4294	6495	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872754C>A	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.236C>A	11.37:g.55872754C>A	ENSP00000323982:p.Thr79Lys	HNSCC(53;0.14)					p.T79K	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	236	+	Esophageal squamous(21;0.00693)		79			Extracellular (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.236C>A	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	c	12.95	2.090329	0.36855	.	.	ENSG00000181767	ENST00000313503	T	0.02579	4.24	3.58	2.64	0.31445	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000041	T	0.15349	0.0370	M	0.94101	3.495	0.09310	N	1	D	0.67145	0.996	D	0.65773	0.938	T	0.07009	-1.0795	10	0.87932	D	0	.	5.3038	0.15793	0.146:0.626:0.142:0.0859	.	79	Q8N162	OR8H2_HUMAN	K	79	ENSP00000323982:T79K	ENSP00000323982:T79K	T	+	2	0	OR8H2	55629330	0.000000	0.05858	0.995000	0.50966	0.624000	0.37722	-0.073000	0.11468	0.788000	0.33755	0.440000	0.28878	ACA		PASS	0.423	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		87	286	87	286	---	---	---	---
OR8H2	390151	broad.mit.edu	37	11	55872756	55872756	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:55872756C>A	ENST00000313503.1	+	1	238	c.238C>A	c.(238-240)Cct>Act	p.P80T		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P80T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGTCGTCACACCTAAAACCTT	0.423										HNSCC(53;0.14)																												uc010riy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(238-240)CCT>ACT		olfactory receptor, family 8, subfamily H,							263.0	263.0	263.0					11																	55872756		2201	4294	6495	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872756C>A	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.238C>A	11.37:g.55872756C>A	ENSP00000323982:p.Pro80Thr	HNSCC(53;0.14)					p.P80T	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	238	+	Esophageal squamous(21;0.00693)		80			Extracellular (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.238C>A	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	c	18.38	3.610535	0.66558	.	.	ENSG00000181767	ENST00000313503	T	0.01854	4.6	3.58	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000070	T	0.22437	0.0541	H	0.97587	4.035	0.48185	D	0.999605	D	0.89917	1.0	D	0.97110	1.0	T	0.50792	-0.8786	10	0.87932	D	0	.	16.1516	0.81626	0.0:1.0:0.0:0.0	.	80	Q8N162	OR8H2_HUMAN	T	80	ENSP00000323982:P80T	ENSP00000323982:P80T	P	+	1	0	OR8H2	55629332	1.000000	0.71417	0.998000	0.56505	0.588000	0.36517	7.118000	0.77137	1.952000	0.56665	0.440000	0.28878	CCT		PASS	0.423	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		84	290	84	290	---	---	---	---
OR8K3	219473	broad.mit.edu	37	11	56086588	56086588	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:56086588C>A	ENST00000312711.1	+	1	806	c.806C>A	c.(805-807)aCt>aAt	p.T269N		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T269N(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TCCTTTGACACTGATAAAGTG	0.433																																						uc010rjf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(805-807)ACT>AAT		olfactory receptor, family 8, subfamily K,							101.0	88.0	92.0					11																	56086588		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086588C>A	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.806C>A	11.37:g.56086588C>A	ENSP00000323555:p.Thr269Asn						p.T269N	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			1	806	+	Esophageal squamous(21;0.00448)		269			Extracellular (Potential).		Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.806C>A	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	C	4.807	0.150107	0.09185	.	.	ENSG00000181689	ENST00000312711	T	0.00115	8.71	4.42	2.47	0.30058	GPCR, rhodopsin-like superfamily (1);	0.322034	0.26623	N	0.023359	T	0.00178	0.0005	L	0.55743	1.74	0.09310	N	0.999999	B	0.21225	0.053	B	0.30316	0.114	T	0.26985	-1.0087	10	0.52906	T	0.07	.	6.7469	0.23466	0.0:0.5554:0.349:0.0956	.	269	Q8NH51	OR8K3_HUMAN	N	269	ENSP00000323555:T269N	ENSP00000323555:T269N	T	+	2	0	OR8K3	55843164	0.000000	0.05858	0.930000	0.37139	0.093000	0.18481	-1.111000	0.03303	0.550000	0.28991	0.471000	0.43371	ACT		PASS	0.433	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		19	15	19	15	---	---	---	---
OR5B12	390191	broad.mit.edu	37	11	58206693	58206693	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:58206693C>G	ENST00000302572.2	-	1	953	c.932G>C	c.(931-933)gGa>gCa	p.G311A		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G311A(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAATATGAATCCTATAGAGGC	0.368																																						uc010rkh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(931-933)GGA>GCA		olfactory receptor, family 5, subfamily B,							36.0	37.0	37.0					11																	58206693		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58206693C>G	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.932G>C	11.37:g.58206693C>G	ENSP00000306657:p.Gly311Ala						p.G311A	NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN			1	932	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	311			Cytoplasmic (Potential).		B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.932G>C	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	C	0.049	-1.256095	0.01457	.	.	ENSG00000172362	ENST00000302572	T	0.00453	7.33	4.29	0.988	0.19796	.	0.435860	0.16973	N	0.192027	T	0.00241	0.0007	L	0.29908	0.895	0.09310	N	1	B	0.15141	0.012	B	0.13407	0.009	T	0.33007	-0.9885	10	0.25106	T	0.35	-23.8452	5.9629	0.19308	0.0:0.4289:0.3908:0.1803	.	311	Q96R08	OR5BC_HUMAN	A	311	ENSP00000306657:G311A	ENSP00000306657:G311A	G	-	2	0	OR5B12	57963269	0.000000	0.05858	0.006000	0.13384	0.053000	0.15095	-0.098000	0.11024	0.077000	0.16863	0.455000	0.32223	GGA		PASS	0.368	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		2	8	2	8	---	---	---	---
EML3	256364	broad.mit.edu	37	11	62371615	62371615	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:62371615C>G	ENST00000394773.2	-	17	2348	c.2041G>C	c.(2041-2043)Gag>Cag	p.E681Q	EML3_ENST00000494176.2_Missense_Mutation_p.E653Q|MTA2_ENST00000278823.2_5'Flank|EML3_ENST00000278845.4_Missense_Mutation_p.E682Q|MTA2_ENST00000527204.1_5'Flank|EML3_ENST00000438258.1_5'Flank|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000529309.1_Missense_Mutation_p.E681Q|EML3_ENST00000531557.1_Missense_Mutation_p.E464Q	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	681						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.E681Q(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GAGAGCTGCTCATTGCCATCA	0.557																																						uc001ntu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2041-2043)GAG>CAG		echinoderm microtubule associated protein like							111.0	95.0	101.0					11																	62371615		2202	4299	6501	SO:0001583	missense	256364					cytoplasm|microtubule	protein binding	g.chr11:62371615C>G	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.2041G>C	11.37:g.62371615C>G	ENSP00000378254:p.Glu681Gln					MTA2_uc010rlx.1_5'Flank|MTA2_uc001ntq.1_5'Flank|EML3_uc001ntr.1_Missense_Mutation_p.E653Q|EML3_uc001nts.1_Missense_Mutation_p.E653Q|EML3_uc001ntt.1_Missense_Mutation_p.E565Q|EML3_uc010rly.1_Missense_Mutation_p.E681Q	p.E681Q	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN			17	2349	-			681			WD 7.		Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	c.2041G>C	CCDS8023.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.597830|4.597830	0.87055|0.87055	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309|ENST00000394776	T;T;T;T;T|.	0.40476|.	1.03;1.03;1.57;1.57;1.57|.	5.2|5.2	5.2|5.2	0.72013|0.72013	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.050037|.	0.85682|.	N|.	0.000000|.	T|.	0.73497|.	0.3594|.	M|M	0.69185|0.69185	2.1|2.1	0.54753|0.54753	D|D	0.999988|0.999988	D;D;P;D;D|.	0.89917|.	1.0;1.0;0.725;0.999;1.0|.	D;D;P;D;D|.	0.97110|.	0.999;1.0;0.623;0.996;0.998|.	T|.	0.72465|.	-0.4285|.	10|.	0.87932|.	D|.	0|.	-18.171|-18.171	16.5894|16.5894	0.84761|0.84761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	681;681;464;682;653|.	Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0|.	.;EMAL3_HUMAN;.;.;.|.	Q|S	681;682;464;653;681|675	ENSP00000378254:E681Q;ENSP00000278845:E682Q;ENSP00000433417:E464Q;ENSP00000435064:E653Q;ENSP00000434513:E681Q|.	ENSP00000278845:E682Q|.	E|X	-|-	1|2	0|2	EML3|EML3	62128191|62128191	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.380000|7.380000	0.79704|0.79704	2.594000|2.594000	0.87642|0.87642	0.555000|0.555000	0.69702|0.69702	GAG|TGA		PASS	0.557	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		19	51	19	51	---	---	---	---
GANAB	23193	broad.mit.edu	37	11	62393327	62393327	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:62393327C>A	ENST00000356638.3	-	24	2811	c.2795G>T	c.(2794-2796)gGc>gTc	p.G932V	GANAB_ENST00000534779.1_Missense_Mutation_p.G840V|GANAB_ENST00000346178.4_Missense_Mutation_p.G954V|GANAB_ENST00000540933.1_Missense_Mutation_p.G835V	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	932					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)	p.G932V(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	CACATTGATGCCAGGCTTGCG	0.522																																					Melanoma(23;1005 1074 15747 18937)	uc001nub.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(2794-2796)GGC>GTC		neutral alpha-glucosidase AB isoform 2							104.0	95.0	98.0					11																	62393327		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62393327C>A	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.2795G>T	11.37:g.62393327C>A	ENSP00000349053:p.Gly932Val					GANAB_uc001ntz.2_Missense_Mutation_p.G119V|GANAB_uc001nua.2_Missense_Mutation_p.G954V|GANAB_uc001nuc.2_Missense_Mutation_p.G835V|GANAB_uc010rma.1_Missense_Mutation_p.G840V|GANAB_uc010rmb.1_Missense_Mutation_p.G818V	p.G932V	NM_198334	NP_938148	Q14697	GANAB_HUMAN			24	2828	-			932					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.2795G>T	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651314	0.47362	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.88664	-2.35;-2.3;-2.41;-2.35	4.84	3.91	0.45181	.	0.123114	0.53938	D	0.000055	D	0.89722	0.6797	M	0.81341	2.54	0.80722	D	1	B;B;B;B	0.32543	0.375;0.375;0.146;0.203	B;B;B;B	0.39027	0.211;0.288;0.14;0.149	D	0.90510	0.4480	10	0.72032	D	0.01	-10.6008	11.2187	0.48842	0.0:0.907:0.0:0.093	.	818;840;932;954	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	V	954;932;840;835	ENSP00000340466:G954V;ENSP00000349053:G932V;ENSP00000435306:G840V;ENSP00000442962:G835V	ENSP00000340466:G954V	G	-	2	0	GANAB	62149903	0.934000	0.31675	0.917000	0.36280	0.956000	0.61745	1.948000	0.40303	2.229000	0.72834	0.561000	0.74099	GGC		PASS	0.522	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		33	26	33	26	---	---	---	---
INTS5	80789	broad.mit.edu	37	11	62417264	62417264	+	Silent	SNP	A	A	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:62417264A>T	ENST00000330574.2	-	2	340	c.288T>A	c.(286-288)ccT>ccA	p.P96P	RP11-831H9.11_ENST00000528405.1_3'UTR	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	96					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.P96P(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GACCAGCCACAGGGGTTTCAT	0.602																																						uc001nud.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(286-288)CCT>CCA		integrator complex subunit 5							103.0	111.0	108.0					11																	62417264		2202	4299	6501	SO:0001819	synonymous_variant	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62417264A>T	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.288T>A	11.37:g.62417264A>T							p.P96P	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN			2	341	-			96					Q8N6W5|Q9C0G5	Silent	SNP	ENST00000330574.2	37	c.288T>A	CCDS8027.1																																																																																				PASS	0.602	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		91	56	91	56	---	---	---	---
PYGM	5837	broad.mit.edu	37	11	64522800	64522800	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:64522800A>G	ENST00000164139.3	-	7	1198	c.800T>C	c.(799-801)gTg>gCg	p.V267A	PYGM_ENST00000377432.3_Missense_Mutation_p.V179A	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	267					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)	p.V267A(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCGGTCCAACACAGCCTGGAT	0.622																																						uc001oax.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(799-801)GTG>GCG		muscle glycogen phosphorylase isoform 1	Pyridoxal Phosphate(DB00114)						120.0	119.0	120.0					11																	64522800		2201	4297	6498	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64522800A>G		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.800T>C	11.37:g.64522800A>G	ENSP00000164139:p.Val267Ala					PYGM_uc001oay.3_Missense_Mutation_p.V179A	p.V267A	NM_005609	NP_005600	P11217	PYGM_HUMAN			7	1617	-			267					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.800T>C	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.678966	0.88542	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.93426	-3.22;-3.22	5.63	4.49	0.54785	.	0.000000	0.53938	D	0.000041	D	0.96250	0.8777	M	0.84585	2.705	0.80722	D	1	P;P	0.52692	0.929;0.955	D;D	0.65573	0.936;0.936	D	0.95816	0.8845	10	0.87932	D	0	-31.3486	10.17	0.42904	0.8505:0.0:0.0:0.1495	.	179;267	A6NDY6;P11217	.;PYGM_HUMAN	A	179;267;248	ENSP00000366650:V179A;ENSP00000164139:V267A	ENSP00000164139:V267A	V	-	2	0	PYGM	64279376	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.339000	0.96797	0.939000	0.37446	0.533000	0.62120	GTG		PASS	0.622	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		58	51	58	51	---	---	---	---
NAALADL1	10004	broad.mit.edu	37	11	64825606	64825606	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:64825606G>C	ENST00000358658.3	-	2	329	c.302C>G	c.(301-303)aCg>aGg	p.T101R	NAALADL1_ENST00000355721.3_Missense_Mutation_p.T101R|NAALADL1_ENST00000339885.2_Missense_Mutation_p.T101R|NAALADL1_ENST00000340252.4_Missense_Mutation_p.T101R|NAALADL1_ENST00000355369.2_Missense_Mutation_p.T101R|NAALADL1_ENST00000356632.3_Missense_Mutation_p.T101R	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.T101R(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CACTTCGTACGTGGAGGCCTC	0.667																																						uc001ocn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(301-303)ACG>AGG		N-acetylated alpha-linked acidic							41.0	37.0	38.0					11																	64825606		2201	4297	6498	SO:0001583	missense	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64825606G>C	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.302C>G	11.37:g.64825606G>C	ENSP00000351484:p.Thr101Arg					NAALADL1_uc010rnw.1_5'UTR	p.T101R	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN			2	318	-			101			Extracellular (Potential).		C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	c.302C>G	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	G	0.056	-1.236226	0.01505	.	.	ENSG00000168060	ENST00000358658;ENST00000355369;ENST00000339885;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632	T;T;T;T;T;T	0.47528	1.19;0.84;0.84;1.38;1.29;1.4	4.4	-1.77	0.07982	.	1.498560	0.03787	N	0.262224	T	0.21631	0.0521	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.10200	-1.0640	10	0.16420	T	0.52	0.2137	3.5906	0.07987	0.1338:0.0977:0.5229:0.2456	.	101	Q9UQQ1	NALDL_HUMAN	R	101	ENSP00000351484:T101R;ENSP00000347530:T101R;ENSP00000340111:T101R;ENSP00000344244:T101R;ENSP00000347955:T101R;ENSP00000349045:T101R	ENSP00000340111:T101R	T	-	2	0	NAALADL1	64582182	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.196000	0.17176	-0.110000	0.12022	-0.410000	0.06199	ACG		PASS	0.667	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		30	59	30	59	---	---	---	---
CPT1A	1374	broad.mit.edu	37	11	68582853	68582853	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:68582853T>G	ENST00000265641.5	-	2	244	c.90A>C	c.(88-90)caA>caC	p.Q30H	CPT1A_ENST00000539743.1_Missense_Mutation_p.Q30H|CPT1A_ENST00000540367.1_Missense_Mutation_p.Q30H|CPT1A_ENST00000376618.2_Missense_Mutation_p.Q30H	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	30					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.Q30H(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)	AGAGATAGATTTGTCTAAGAG	0.438																																						uc001oog.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(88-90)CAA>CAC		carnitine palmitoyltransferase 1A liver isoform	L-Carnitine(DB00583)|Perhexiline(DB01074)						78.0	74.0	75.0					11																	68582853		2200	4294	6494	SO:0001583	missense	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68582853T>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.90A>C	11.37:g.68582853T>G	ENSP00000265641:p.Gln30His					CPT1A_uc001oof.3_Missense_Mutation_p.Q30H|CPT1A_uc009ysj.2_Missense_Mutation_p.Q30H	p.Q30H	NM_001876	NP_001867	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		2	260	-	Esophageal squamous(3;3.28e-14)		30			Cytoplasmic (Potential).		Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	c.90A>C	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	T	1.313	-0.601534	0.03744	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.84800	-1.9;-1.9;-1.88;-1.88	4.6	-7.02	0.01589	.	0.207244	0.42420	D	0.000710	T	0.81917	0.4924	L	0.29908	0.895	0.52099	D	0.999947	B;P;B	0.45474	0.001;0.859;0.004	B;P;B	0.53062	0.002;0.717;0.012	T	0.81033	-0.1116	10	0.42905	T	0.14	.	18.6074	0.91271	0.0:0.7644:0.0:0.2356	.	30;30;30	B2RAQ8;P50416;P50416-2	.;CPT1A_HUMAN;.	H	30	ENSP00000439084:Q30H;ENSP00000365803:Q30H;ENSP00000265641:Q30H;ENSP00000446108:Q30H	ENSP00000265641:Q30H	Q	-	3	2	CPT1A	68339429	0.402000	0.25311	0.048000	0.18961	0.326000	0.28443	-0.257000	0.08745	-1.659000	0.01488	-1.702000	0.00720	CAA		PASS	0.438	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		29	31	29	31	---	---	---	---
ARHGEF17	9828	broad.mit.edu	37	11	73021849	73021849	+	Missense_Mutation	SNP	G	G	C	rs139702671	byFrequency	TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:73021849G>C	ENST00000263674.3	+	1	2516	c.2166G>C	c.(2164-2166)ttG>ttC	p.L722F	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	722				L -> F (in Ref. 5; BAA20795). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L722F(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGAGCGAATTGAGCAATGGGG	0.652																																						uc001otu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2164-2166)TTG>TTC		Rho guanine nucleotide exchange factor (GEF) 17							39.0	42.0	41.0					11																	73021849		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|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	Rho guanyl-nucleotide exchange factor activity	g.chr11:73021849G>C	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.2166G>C	11.37:g.73021849G>C	ENSP00000263674:p.Leu722Phe						p.L722F	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			1	2187	+			722	L -> F (in Ref. 5; BAA20795).				B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.2166G>C	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467430	0.26335	.	.	ENSG00000110237	ENST00000263674	T	0.58210	0.35	4.23	1.63	0.23807	.	0.614548	0.13805	N	0.361496	T	0.31263	0.0791	N	0.24115	0.695	0.25645	N	0.986164	B	0.34015	0.435	B	0.33042	0.157	T	0.26430	-1.0103	10	0.62326	D	0.03	-2.6715	0.8234	0.01116	0.1681:0.1767:0.3632:0.292	.	722	Q96PE2	ARHGH_HUMAN	F	722	ENSP00000263674:L722F	ENSP00000263674:L722F	L	+	3	2	ARHGEF17	72699497	0.981000	0.34729	0.998000	0.56505	0.885000	0.51271	0.207000	0.17395	0.644000	0.30656	0.561000	0.74099	TTG		PASS	0.652	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		30	93	30	93	---	---	---	---
PAAF1	80227	broad.mit.edu	37	11	73638345	73638345	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:73638345A>C	ENST00000310571.3	+	12	1170	c.1117A>C	c.(1117-1119)Aag>Cag	p.K373Q	PAAF1_ENST00000544909.1_Missense_Mutation_p.K374Q|PAAF1_ENST00000536003.1_Missense_Mutation_p.K356Q|PAAF1_ENST00000544552.1_Missense_Mutation_p.K356Q|PAAF1_ENST00000541951.1_Missense_Mutation_p.K258Q|PAAF1_ENST00000376384.5_Missense_Mutation_p.K356Q|PAAF1_ENST00000535604.1_Missense_Mutation_p.K258Q|RP11-707G14.7_ENST00000535936.1_lincRNA	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	373					viral process (GO:0016032)	proteasome complex (GO:0000502)		p.K373Q(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					CACATGGGAGAAGCAGATCTA	0.453																																						uc001ouk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1117-1119)AAG>CAG		proteasomal ATPase-associated factor 1							157.0	133.0	141.0					11																	73638345		2200	4293	6493	SO:0001583	missense	80227				interspecies interaction between organisms	proteasome complex	protein binding	g.chr11:73638345A>C	BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"""WD repeat domain containing"""	25687	protein-coding gene	gene with protein product			"""WD repeat domain 71"""	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.1117A>C	11.37:g.73638345A>C	ENSP00000311665:p.Lys373Gln					PAAF1_uc001oul.1_Missense_Mutation_p.K356Q|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Missense_Mutation_p.K356Q|PAAF1_uc001oun.1_RNA	p.K373Q	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN			12	1151	+	Breast(11;7.42e-05)		373			WD 5.		A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Missense_Mutation	SNP	ENST00000310571.3	37	c.1117A>C	CCDS8226.1	.	.	.	.	.	.	.	.	.	.	A	16.37	3.104816	0.56291	.	.	ENSG00000175575	ENST00000541951;ENST00000310571;ENST00000535604;ENST00000536003;ENST00000544552;ENST00000376384;ENST00000544909	T;T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22;2.22	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.30293	0.0760	L	0.53249	1.67	0.41455	D	0.988006	D;D	0.61697	0.99;0.982	P;P	0.61477	0.889;0.699	T	0.01675	-1.1298	10	0.30078	T	0.28	-11.4268	11.1165	0.48264	1.0:0.0:0.0:0.0	.	356;373	Q9BRP4-2;Q9BRP4	.;PAAF1_HUMAN	Q	258;373;258;356;356;356;374	ENSP00000441333:K258Q;ENSP00000311665:K373Q;ENSP00000438789:K258Q;ENSP00000438124:K356Q;ENSP00000441494:K356Q;ENSP00000365564:K356Q;ENSP00000438071:K374Q	ENSP00000311665:K373Q	K	+	1	0	PAAF1	73315993	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.251000	0.65438	2.193000	0.70182	0.528000	0.53228	AAG		PASS	0.453	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397885.1	NM_025155		13	45	13	45	---	---	---	---
WNT11	7481	broad.mit.edu	37	11	75902837	75902837	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:75902837G>A	ENST00000322563.3	-	4	785	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	221					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)	p.R221C(3)		breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CAGCAGGTGCGGATGGAGCAG	0.637																																						uc001oxe.2																			3	Substitution - Missense(3)		lung(1)|breast(1)|skin(1)	lung(1)|skin(1)	2						c.(661-663)CGC>TGC		wingless-type MMTV integration site family,							73.0	65.0	68.0					11																	75902837		2200	4292	6492	SO:0001583	missense	7481				adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding	g.chr11:75902837G>A	Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"""Wingless-type MMTV integration sites"""	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.661C>T	11.37:g.75902837G>A	ENSP00000325526:p.Arg221Cys					WNT11_uc001oxf.1_Missense_Mutation_p.R221C	p.R221C	NM_004626	NP_004617	O96014	WNT11_HUMAN			4	784	-			221					B2R8Z6|Q14DE8|Q8WZ98	Missense_Mutation	SNP	ENST00000322563.3	37	c.661C>T	CCDS8242.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.405947	0.83230	.	.	ENSG00000085741	ENST00000322563	T	0.78003	-1.14	5.66	4.68	0.58851	.	0.136652	0.64402	D	0.000008	D	0.85168	0.5635	M	0.84156	2.68	0.80722	D	1	D	0.67145	0.996	P	0.57846	0.828	D	0.86809	0.1997	10	0.87932	D	0	.	10.9308	0.47217	0.0:0.0:0.6384:0.3616	.	221	O96014	WNT11_HUMAN	C	221	ENSP00000325526:R221C	ENSP00000325526:R221C	R	-	1	0	WNT11	75580485	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.559000	0.60796	2.675000	0.91044	0.655000	0.94253	CGC		PASS	0.637	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383083.1	NM_004626		73	38	73	38	---	---	---	---
TENM4	26011	broad.mit.edu	37	11	78380188	78380188	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:78380188C>T	ENST00000278550.7	-	32	7664	c.7202G>A	c.(7201-7203)gGc>gAc	p.G2401D		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2401					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.G2401D(2)|p.G2401A(2)									ACCATGGTAGCCTATGATGAT	0.517																																						uc001ozl.3																			4	Substitution - Missense(4)		lung(4)	ovary(2)|pancreas(2)	4						c.(7201-7203)GGC>GAC		odz, odd Oz/ten-m homolog 4							58.0	58.0	58.0					11																	78380188		1949	4148	6097	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78380188C>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7202G>A	11.37:g.78380188C>T	ENSP00000278550:p.Gly2401Asp					ODZ4_uc001ozk.3_Missense_Mutation_p.G626D|ODZ4_uc009yvb.1_Missense_Mutation_p.G985D	p.G2401D	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			32	7665	-			2401			Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.7202G>A	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166691	0.57476	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.90504	-2.68;0.75	5.67	5.67	0.87782	Rhs repeat-associated core (1);	0.000000	0.85682	D	0.000000	D	0.94899	0.8351	M	0.67625	2.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93921	0.7206	9	.	.	.	.	19.773	0.96379	0.0:1.0:0.0:0.0	.	2401	Q6N022	TEN4_HUMAN	D	2401;865	ENSP00000278550:G2401D;ENSP00000431711:G865D	.	G	-	2	0	ODZ4	78057836	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.818000	0.86416	2.677000	0.91161	0.655000	0.94253	GGC		PASS	0.517	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			11	33	11	33	---	---	---	---
KIAA1377	57562	broad.mit.edu	37	11	101832922	101832922	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:101832922A>T	ENST00000263468.8	+	6	1426	c.1156A>T	c.(1156-1158)Acc>Tcc	p.T386S	KIAA1377_ENST00000537689.1_Missense_Mutation_p.T187S	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	386								p.T386S(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATGTGAAAAGACCTCTGAAAC	0.383																																						uc001pgm.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|central_nervous_system(1)	4						c.(1156-1158)ACC>TCC		hypothetical protein LOC57562							51.0	54.0	53.0					11																	101832922		2202	4298	6500	SO:0001583	missense	57562						protein binding	g.chr11:101832922A>T	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.1156A>T	11.37:g.101832922A>T	ENSP00000263468:p.Thr386Ser					KIAA1377_uc001pgn.2_Missense_Mutation_p.T342S|KIAA1377_uc010run.1_Missense_Mutation_p.T187S|KIAA1377_uc009yxa.1_Missense_Mutation_p.T187S	p.T386S	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	6	1426	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	386					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.1156A>T	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	a	7.731	0.699326	0.15106	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.06933	3.24;3.24	5.03	-3.61	0.04556	.	0.828979	0.10765	N	0.636685	T	0.05502	0.0145	L	0.47716	1.5	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.45687	-0.9244	10	0.16420	T	0.52	3.3251	2.0381	0.03544	0.4675:0.1234:0.2902:0.119	.	386	Q9P2H0	K1377_HUMAN	S	386;187	ENSP00000263468:T386S;ENSP00000443184:T187S	ENSP00000263468:T386S	T	+	1	0	KIAA1377	101338132	0.000000	0.05858	0.000000	0.03702	0.915000	0.54546	-0.549000	0.06041	-0.936000	0.03723	-1.049000	0.02347	ACC		PASS	0.383	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		12	55	12	55	---	---	---	---
GUCY1A2	2977	broad.mit.edu	37	11	106810216	106810216	+	Silent	SNP	A	A	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:106810216A>T	ENST00000526355.2	-	4	1644	c.1176T>A	c.(1174-1176)ccT>ccA	p.P392P	GUCY1A2_ENST00000347596.2_Silent_p.P392P|GUCY1A2_ENST00000282249.2_Silent_p.P392P	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	392					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.P392P(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	CAGAAGCCTCAGGCTTGGTTC	0.433																																						uc001pjg.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.(1174-1176)CCT>CCA		guanylate cyclase 1, soluble, alpha 2							89.0	93.0	92.0					11																	106810216		2201	4298	6499	SO:0001819	synonymous_variant	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106810216A>T	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1176T>A	11.37:g.106810216A>T						GUCY1A2_uc010rvo.1_Silent_p.P392P|GUCY1A2_uc009yxn.1_Silent_p.P392P	p.P392P	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	4	1566	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	392					A1L4C4|B7ZLT5	Silent	SNP	ENST00000526355.2	37	c.1176T>A	CCDS8335.1																																																																																				PASS	0.433	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			24	108	24	108	---	---	---	---
ATM	472	broad.mit.edu	37	11	108155174	108155174	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:108155174A>G	ENST00000452508.2	+	27	4156	c.3967A>G	c.(3967-3969)Aaa>Gaa	p.K1323E	ATM_ENST00000278616.4_Missense_Mutation_p.K1323E			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1323					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.K1323E(2)|p.V1292_Q1331del(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TGATATGCTTAAAAGTGAAAA	0.353			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		3	Substitution - Missense(2)|Deletion - In frame(1)	p.V1292_Q1331del(1)	lung(2)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(3967-3969)AAA>GAA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							98.0	95.0	96.0					11																	108155174		2201	4298	6499	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108155174A>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3967A>G	11.37:g.108155174A>G	ENSP00000388058:p.Lys1323Glu	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.K1323E|ATM_uc001pkd.3_5'Flank|ATM_uc001pke.1_5'Flank	p.K1323E	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	26	4352	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1323					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.3967A>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	13.20	2.165431	0.38217	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.72942	-0.7;-0.7;-0.7	5.43	5.43	0.79202	Armadillo-type fold (1);	0.146306	0.64402	D	0.000011	T	0.50667	0.1629	L	0.27053	0.805	0.33510	D	0.59099	B	0.32693	0.38	B	0.28553	0.091	T	0.56727	-0.7931	10	0.05620	T	0.96	.	11.47	0.50264	0.8497:0.1503:0.0:0.0	.	1323	Q13315	ATM_HUMAN	E	1323	ENSP00000435747:K1323E;ENSP00000278616:K1323E;ENSP00000388058:K1323E	ENSP00000278616:K1323E	K	+	1	0	ATM	107660384	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	4.620000	0.61226	2.070000	0.61991	0.455000	0.32223	AAA		PASS	0.353	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		7	43	7	43	---	---	---	---
HSPB2	3316	broad.mit.edu	37	11	111784533	111784533	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:111784533A>G	ENST00000304298.3	+	2	1051	c.463A>G	c.(463-465)Aca>Gca	p.T155A	CRYAB_ENST00000533971.1_5'Flank|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000531198.1_5'Flank|HSPB2_ENST00000537382.1_Missense_Mutation_p.T155A|CRYAB_ENST00000525823.1_5'Flank|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000227251.3_5'Flank|CRYAB_ENST00000533475.1_5'UTR|CRYAB_ENST00000526180.1_5'Flank	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	155					positive regulation of catalytic activity (GO:0043085)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)	p.T155A(1)		large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		ACATTTGGACACAGAGGTCAA	0.587																																						uc001pmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(463-465)ACA>GCA		heat shock 27kDa protein 2							55.0	53.0	54.0					11																	111784533		2201	4297	6498	SO:0001583	missense	3316				response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding	g.chr11:111784533A>G	U75898	CCDS8352.1	11q22-q23	2011-09-02	2002-08-29			ENSG00000170276		"""Heat shock proteins / HSPB"""	5247	protein-coding gene	gene with protein product		602179	"""heat shock 27kD protein 2"""			9344664, 9490724	Standard	NM_001541		Approved	Hs.78846, MKBP	uc001pmg.2	Q16082		ENST00000304298.3:c.463A>G	11.37:g.111784533A>G	ENSP00000302476:p.Thr155Ala					CRYAB_uc001pmf.1_5'Flank|CRYAB_uc010rwp.1_5'Flank|HSPB2_uc009yyj.2_RNA|C11orf52_uc001pmh.2_Intron	p.T155A	NM_001541	NP_001532	Q16082	HSPB2_HUMAN		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)	2	557	+		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	155					Q6I9U7	Missense_Mutation	SNP	ENST00000304298.3	37	c.463A>G	CCDS8352.1	.	.	.	.	.	.	.	.	.	.	A	6.632	0.485028	0.12641	.	.	ENSG00000170276	ENST00000304298;ENST00000537382	D;D	0.92149	-2.98;-2.98	5.37	5.37	0.77165	Heat shock protein Hsp20 (1);HSP20-like chaperone (1);	0.149782	0.45606	D	0.000343	T	0.74809	0.3765	N	0.02181	-0.65	0.28628	N	0.907811	B	0.11235	0.004	B	0.11329	0.006	T	0.64101	-0.6486	10	0.08837	T	0.75	-10.2725	5.9995	0.19513	0.7961:0.0:0.2039:0.0	.	155	Q16082	HSPB2_HUMAN	A	155	ENSP00000302476:T155A;ENSP00000445585:T155A	ENSP00000302476:T155A	T	+	1	0	HSPB2	111289743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.573000	0.53856	2.169000	0.68431	0.528000	0.53228	ACA		PASS	0.587	HSPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391669.1			51	29	51	29	---	---	---	---
PCSK7	9159	broad.mit.edu	37	11	117097994	117097994	+	Silent	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:117097994G>T	ENST00000320934.3	-	5	1278	c.648C>A	c.(646-648)ccC>ccA	p.P216P		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	216	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.P216P(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	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;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GGTGGGGCATGGGGTCAGGGT	0.567			T	IGH@	MLCLS																																	uc001pqr.2				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		1	Substitution - coding silent(1)		lung(1)		0						c.(646-648)CCC>CCA		proprotein convertase subtilisin/kexin type 7							112.0	109.0	110.0					11																	117097994		2201	4296	6497	SO:0001819	synonymous_variant	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117097994G>T	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.648C>A	11.37:g.117097994G>T							p.P216P	NM_004716	NP_004707	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	5	849	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	216			Catalytic.|Extracellular (Potential).		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Silent	SNP	ENST00000320934.3	37	c.648C>A	CCDS8382.1																																																																																				PASS	0.567	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		104	64	104	64	---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117303860	117303860	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:117303860G>T	ENST00000321322.6	-	29	5201	c.5200C>A	c.(5200-5202)Caa>Aaa	p.Q1734K	DSCAML1_ENST00000527706.1_Missense_Mutation_p.Q1464K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1674					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.Q1734K(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCACCCAGTTGCTTGATGCCT	0.577																																						uc001prh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(5200-5202)CAA>AAA		Down syndrome cell adhesion molecule like 1							112.0	95.0	100.0					11																	117303860		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117303860G>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5200C>A	11.37:g.117303860G>T	ENSP00000315465:p.Gln1734Lys						p.Q1734K	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	29	5202	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1674			Cytoplasmic (Potential).		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.5200C>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094846	0.76870	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.60920	0.18;0.15	5.46	5.46	0.80206	.	.	.	.	.	T	0.48822	0.1521	N	0.19112	0.55	0.80722	D	1	B	0.30793	0.295	B	0.33521	0.165	T	0.48658	-0.9016	9	0.48119	T	0.1	.	19.2998	0.94140	0.0:0.0:1.0:0.0	.	1674	Q8TD84	DSCL1_HUMAN	K	1464;1734;1441	ENSP00000434335:Q1464K;ENSP00000315465:Q1734K	ENSP00000315465:Q1734K	Q	-	1	0	DSCAML1	116809070	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.824000	0.99380	2.542000	0.85734	0.591000	0.81541	CAA		PASS	0.577	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		14	29	14	29	---	---	---	---
PHLDB1	23187	broad.mit.edu	37	11	118498322	118498322	+	Silent	SNP	A	A	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:118498322A>C	ENST00000361417.2	+	7	1194	c.783A>C	c.(781-783)ccA>ccC	p.P261P	PHLDB1_ENST00000356063.5_Silent_p.P261P	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	261								p.P261P(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCTCTTCACCAGCCAGCAGTG	0.632																																						uc001ptr.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(781-783)CCA>CCC		pleckstrin homology-like domain, family B,							93.0	102.0	99.0					11																	118498322		2200	4295	6495	SO:0001819	synonymous_variant	23187							g.chr11:118498322A>C		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.783A>C	11.37:g.118498322A>C						PHLDB1_uc010ryh.1_Silent_p.P260P|PHLDB1_uc001pts.2_Silent_p.P261P|PHLDB1_uc001ptt.2_Silent_p.P261P|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Silent_p.P61P|PHLDB1_uc001ptw.1_5'Flank	p.P261P	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	1136	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	261					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	c.783A>C	CCDS8401.1																																																																																				PASS	0.632	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		9	285	9	285	---	---	---	---
GRIK4	2900	broad.mit.edu	37	11	120833331	120833331	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:120833331A>C	ENST00000527524.2	+	18	2494	c.2207A>C	c.(2206-2208)aAc>aCc	p.N736T	GRIK4_ENST00000438375.2_Missense_Mutation_p.N736T	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	736					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.N736T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CGAAACTGCAACCTCACTCAG	0.552																																						uc001pxn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2206-2208)AAC>ACC		glutamate receptor KA1 precursor	L-Glutamic Acid(DB00142)						88.0	88.0	88.0					11																	120833331		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120833331A>C	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.2207A>C	11.37:g.120833331A>C	ENSP00000435648:p.Asn736Thr					GRIK4_uc009zav.1_Missense_Mutation_p.N736T|GRIK4_uc009zaw.1_Missense_Mutation_p.N736T|GRIK4_uc009zax.1_Missense_Mutation_p.N736T	p.N736T	NM_014619	NP_055434	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	18	2494	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	736			Extracellular (Potential).		A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.2207A>C	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.850912	0.91277	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.12774	2.65;2.65	5.69	5.69	0.88448	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.37046	0.0989	M	0.68317	2.08	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.91635	0.997;0.999	T	0.10776	-1.0615	10	0.87932	D	0	.	15.6035	0.76642	1.0:0.0:0.0:0.0	.	736;736	A6H8K8;Q16099	.;GRIK4_HUMAN	T	736	ENSP00000435648:N736T;ENSP00000404063:N736T	ENSP00000404063:N736T	N	+	2	0	GRIK4	120338541	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.162000	0.67917	0.533000	0.62120	AAC		PASS	0.552	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		9	108	9	108	---	---	---	---
UBASH3B	84959	broad.mit.edu	37	11	122653834	122653834	+	Silent	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:122653834C>A	ENST00000284273.5	+	5	1050	c.675C>A	c.(673-675)ccC>ccA	p.P225P		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	225					negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.P225P(2)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GCCACCTACCCACCCTAGAGA	0.483																																						uc001pyi.3																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(673-675)CCC>CCA		ubiquitin associated and SH3 domain containing,							234.0	214.0	221.0					11																	122653834		2202	4299	6501	SO:0001819	synonymous_variant	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122653834C>A	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.675C>A	11.37:g.122653834C>A							p.P225P	NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	5	1035	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	225					Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	ENST00000284273.5	37	c.675C>A	CCDS31694.1																																																																																				PASS	0.483	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		130	154	130	154	---	---	---	---
KCNJ1	3758	broad.mit.edu	37	11	128709123	128709123	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:128709123C>A	ENST00000392664.2	-	2	1189	c.1073G>T	c.(1072-1074)tGc>tTc	p.C358F	KCNJ1_ENST00000392665.2_Missense_Mutation_p.C339F|KCNJ1_ENST00000392666.1_Missense_Mutation_p.C339F|KCNJ1_ENST00000440599.2_Missense_Mutation_p.C339F|KCNJ1_ENST00000324036.3_Missense_Mutation_p.C339F	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	358					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.C358F(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	ATTATAAAGGCACATGGCACA	0.433																																						uc001qeo.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1072-1074)TGC>TTC		potassium inwardly-rectifying channel J1 isoform	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)						120.0	114.0	116.0					11																	128709123		2201	4297	6498	SO:0001583	missense	3758				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	g.chr11:128709123C>A	BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.1073G>T	11.37:g.128709123C>A	ENSP00000376432:p.Cys358Phe					KCNJ1_uc001qep.1_Missense_Mutation_p.C339F|KCNJ1_uc001qeq.1_Missense_Mutation_p.C339F|KCNJ1_uc001qer.1_Missense_Mutation_p.C339F|KCNJ1_uc001qes.1_Missense_Mutation_p.C339F	p.C358F	NM_000220	NP_000211	P48048	IRK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	2	1124	-	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)	358			Cytoplasmic (By similarity).		B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	c.1073G>T	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156101	0.78114	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664	D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28	5.9	5.9	0.94986	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.96990	0.9017	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96859	0.9631	10	0.72032	D	0.01	.	20.2723	0.98479	0.0:1.0:0.0:0.0	.	358	P48048	IRK1_HUMAN	F	339;339;339;339;358	ENSP00000376433:C339F;ENSP00000376434:C339F;ENSP00000406320:C339F;ENSP00000316233:C339F;ENSP00000376432:C358F	ENSP00000316233:C339F	C	-	2	0	KCNJ1	128214333	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.037000	0.70956	2.793000	0.96121	0.563000	0.77884	TGC		PASS	0.433	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		39	20	39	20	---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133791061	133791061	+	Silent	SNP	G	G	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:133791061G>C	ENST00000321016.8	-	18	2789	c.2559C>G	c.(2557-2559)ggC>ggG	p.G853G	IGSF9B_ENST00000533871.2_Silent_p.G853G			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	853					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.G853G(1)|p.G309G(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGCCGTCAGGGCCTCTGCTGA	0.642																																						uc001qgx.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(2557-2559)GGC>GGG		immunoglobulin superfamily, member 9B							63.0	70.0	68.0					11																	133791061		2132	4232	6364	SO:0001819	synonymous_variant	22997					integral to membrane|plasma membrane		g.chr11:133791061G>C	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2559C>G	11.37:g.133791061G>C							p.G853G	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	2790	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	853			Cytoplasmic (Potential).		G5EA26	Silent	SNP	ENST00000321016.8	37	c.2559C>G																																																																																					PASS	0.642	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		6	136	6	136	---	---	---	---
SLC6A13	6540	broad.mit.edu	37	12	335599	335599	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:335599C>A	ENST00000343164.4	-	9	1069	c.1017G>T	c.(1015-1017)atG>atT	p.M339I	SLC6A13_ENST00000445055.2_Missense_Mutation_p.M247I|SLC6A13_ENST00000539668.1_5'Flank	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	339					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.M339I(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GCTCCTGAGACATGAAGCCCA	0.617																																						uc001qic.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1015-1017)ATG>ATT		solute carrier family 6 (neurotransmitter							65.0	59.0	61.0					12																	335599		2203	4300	6503	SO:0001583	missense	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:335599C>A	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1017G>T	12.37:g.335599C>A	ENSP00000339260:p.Met339Ile					SLC6A13_uc009zdj.1_Missense_Mutation_p.M329I|SLC6A13_uc010sdl.1_Missense_Mutation_p.M247I	p.M339I	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		9	1070	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		339			Helical; Name=7; (Potential).		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.1017G>T	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027397	0.93518	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.75260	-0.92;-0.92	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.88284	0.6395	M	0.87758	2.905	0.80722	D	1	D;P;P	0.67145	0.996;0.954;0.92	D;P;P	0.72075	0.976;0.774;0.74	D	0.89758	0.3945	10	0.62326	D	0.03	.	19.0268	0.92935	0.0:1.0:0.0:0.0	.	247;318;339	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	I	247;318;339	ENSP00000407104:M247I;ENSP00000339260:M339I	ENSP00000318097:M318I	M	-	3	0	SLC6A13	205860	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	7.753000	0.85153	2.484000	0.83849	0.491000	0.48974	ATG		PASS	0.617	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		11	70	11	70	---	---	---	---
ACSM4	341392	broad.mit.edu	37	12	7470652	7470652	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:7470652C>G	ENST00000399422.4	+	5	843	c.795C>G	c.(793-795)atC>atG	p.I265M		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	265					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)	p.I265M(2)		endometrium(6)|kidney(1)|lung(14)	21						CCTCAGATATCATATGGAATA	0.418																																						uc001qsx.1																			2	Substitution - Missense(2)		lung(2)		0						c.(793-795)ATC>ATG		acyl-CoA synthetase medium-chain family member 4							108.0	106.0	106.0					12																	7470652		1931	4130	6061	SO:0001583	missense	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7470652C>G		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.795C>G	12.37:g.7470652C>G	ENSP00000382349:p.Ile265Met						p.I265M	NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN			5	795	+			265					A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	37	c.795C>G	CCDS44825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.72|12.72	2.021774|2.021774	0.35701|0.35701	.|.	.|.	ENSG00000215009|ENSG00000215009	ENST00000524777|ENST00000399422	.|T	.|0.11385	.|2.78	4.07|4.07	1.14|1.14	0.20703|0.20703	.|AMP-dependent synthetase/ligase (1);	.|0.000000	.|0.39407	.|U	.|0.001374	T|T	0.10121|0.10121	0.0248|0.0248	L|L	0.52206|0.52206	1.635|1.635	0.33432|0.33432	D|D	0.581314|0.581314	.|P	.|0.42248	.|0.774	.|B	.|0.42771	.|0.397	T|T	0.16778|0.16778	-1.0391|-1.0391	5|10	.|0.56958	.|D	.|0.05	-13.0409|-13.0409	3.3948|3.3948	0.07302|0.07302	0.3789:0.4175:0.0:0.2036|0.3789:0.4175:0.0:0.2036	.|.	.|265	.|P0C7M7	.|ACSM4_HUMAN	D|M	11|265	.|ENSP00000382349:I265M	.|ENSP00000382349:I265M	H|I	+|+	1|3	0|3	ACSM4|ACSM4	7361919|7361919	0.000000|0.000000	0.05858|0.05858	0.992000|0.992000	0.48379|0.48379	0.994000|0.994000	0.84299|0.84299	-1.481000|-1.481000	0.02323|0.02323	0.115000|0.115000	0.18071|0.18071	0.655000|0.655000	0.94253|0.94253	CAT|ATC		PASS	0.418	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		21	33	21	33	---	---	---	---
SLC2A3	6515	broad.mit.edu	37	12	8075526	8075526	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:8075526A>G	ENST00000075120.7	-	9	1403	c.1163T>C	c.(1162-1164)aTt>aCt	p.I388T		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	388					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.I388T(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TTCGGCCACAATAAACCAGGG	0.537																																					Colon(96;424 1461 14416 20933 23688)	uc001qtr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1162-1164)ATT>ACT		solute carrier family 2 (facilitated glucose							36.0	38.0	37.0					12																	8075526		2203	4300	6503	SO:0001583	missense	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8075526A>G	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.1163T>C	12.37:g.8075526A>G	ENSP00000075120:p.Ile388Thr						p.I388T	NM_006931	NP_008862	P11169	GTR3_HUMAN		Kidney(36;0.0866)	9	1425	-			388			Helical; Name=10; (Potential).		B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	c.1163T>C	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.073824	0.76415	.	.	ENSG00000059804	ENST00000075120;ENST00000540978	T	0.76968	-1.06	4.34	4.34	0.51931	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.88603	0.6481	H	0.97415	4	0.58432	D	0.999997	P	0.40000	0.698	P	0.48524	0.58	D	0.91385	0.5130	10	0.87932	D	0	.	11.788	0.52053	1.0:0.0:0.0:0.0	.	388	P11169	GTR3_HUMAN	T	388;314	ENSP00000075120:I388T	ENSP00000075120:I388T	I	-	2	0	SLC2A3	7966793	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.281000	0.89905	1.943000	0.56356	0.533000	0.62120	ATT		PASS	0.537	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		44	95	44	95	---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14798171	14798171	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:14798171T>C	ENST00000261170.3	-	16	1925	c.1789A>G	c.(1789-1791)Att>Gtt	p.I597V		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	597	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.I597V(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	ACCTTAGCAATGTCATACAAG	0.333																																						uc001rcd.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(1789-1791)ATT>GTT		guanylate cyclase 2C precursor							105.0	106.0	106.0					12																	14798171		2203	4298	6501	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14798171T>C		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1789A>G	12.37:g.14798171T>C	ENSP00000261170:p.Ile597Val						p.I597V	NM_004963	NP_004954	P25092	GUC2C_HUMAN			16	1926	-			597			Cytoplasmic (Potential).|Protein kinase.		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.1789A>G	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.169856	0.57584	.	.	ENSG00000070019	ENST00000261170	T	0.63744	-0.06	5.21	5.21	0.72293	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.54532	0.1864	L	0.31926	0.97	0.80722	D	1	B	0.18741	0.03	B	0.24974	0.057	T	0.54173	-0.8333	10	0.59425	D	0.04	.	15.0607	0.71951	0.0:0.0:0.0:1.0	.	597	P25092	GUC2C_HUMAN	V	597	ENSP00000261170:I597V	ENSP00000261170:I597V	I	-	1	0	GUCY2C	14689438	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.214000	0.72200	1.972000	0.57404	0.496000	0.49642	ATT		PASS	0.333	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			39	44	39	44	---	---	---	---
SLCO1B7	338821	broad.mit.edu	37	12	21242884	21242884	+	Silent	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:21242884A>G	ENST00000421593.2	+	13	1767	c.1767A>G	c.(1765-1767)gtA>gtG	p.V589V	LST3_ENST00000540229.1_Silent_p.V697V|SLCO1B3_ENST00000553473.1_Silent_p.V697V|SLCO1B7_ENST00000554957.1_Silent_p.V636V|RP11-125O5.2_ENST00000590779.1_Intron|LST3_ENST00000381541.3_Silent_p.V636V	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	589						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.V589V(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						TATTTCCAGTACTTGTTTTAC	0.289																																						uc010sil.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(2089-2091)GTA>GTG		SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;							57.0	58.0	58.0					12																	21242884		1862	4113	5975	SO:0001819	synonymous_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21242884A>G	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.1767A>G	12.37:g.21242884A>G						LST-3TM12_uc010sim.1_Silent_p.V636V|LST-3TM12_uc010sin.1_Silent_p.V589V	p.V697V			Q9NPD5	SO1B3_HUMAN			16	2156	+	Esophageal squamous(101;0.149)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q71QF0	Silent	SNP	ENST00000421593.2	37	c.2091A>G	CCDS44843.1																																																																																				PASS	0.289	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		10	10	10	10	---	---	---	---
METTL20	254013	broad.mit.edu	37	12	31814953	31814953	+	Silent	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:31814953A>G	ENST00000357721.3	+	2	281	c.66A>G	c.(64-66)cgA>cgG	p.R22R	METTL20_ENST00000538391.1_Silent_p.R22R|METTL20_ENST00000395763.3_Silent_p.R22R|METTL20_ENST00000538463.1_Silent_p.R22R|METTL20_ENST00000412352.2_Silent_p.R22R	NM_001135863.1	NP_001129335.1	Q8IXQ9	MET20_HUMAN	methyltransferase like 20	22						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)	p.R22R(1)		lung(2)|stomach(1)	3						AGGCTCTGCGAAGCAGTGGTC	0.517																																						uc009zjr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(64-66)CGA>CGG		hypothetical protein LOC254013							147.0	133.0	138.0					12																	31814953		2203	4300	6503	SO:0001819	synonymous_variant	254013					cytoplasm	protein methyltransferase activity	g.chr12:31814953A>G	BC039535	CCDS8724.1	12p11.21	2011-03-03	2011-03-03	2011-03-03	ENSG00000139160	ENSG00000139160			28739	protein-coding gene	gene with protein product		615256	"""chromosome 12 open reading frame 72"""	C12orf72			Standard	NM_173802		Approved	DKFZp451L235, MGC50559	uc001rkm.3	Q8IXQ9		ENST00000357721.3:c.66A>G	12.37:g.31814953A>G						C12orf72_uc001rkl.2_Silent_p.R22R|C12orf72_uc001rkm.2_Silent_p.R22R	p.R22R	NM_001135864	NP_001129336	Q8IXQ9	MET20_HUMAN			2	275	+			22					D3DUW3	Silent	SNP	ENST00000357721.3	37	c.66A>G	CCDS8724.1																																																																																				PASS	0.517	METTL20-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402196.1	NM_173802		4	231	4	231	---	---	---	---
H3F3C	440093	broad.mit.edu	37	12	31944836	31944836	+	Missense_Mutation	SNP	C	C	T	rs148314204		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:31944836C>T	ENST00000340398.3	-	1	339	c.265G>A	c.(265-267)Gtc>Atc	p.V89I		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	89					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)	p.V89I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						AGCGCACCGACGGCTGCGCTC	0.577										HNSCC(67;0.2)																												uc001rkr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(265-267)GTC>ATC		histone H3-like		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	128.0	119.0	122.0		265	-3.1	0.0	12	dbSNP_134	122	0,8600		0,0,4300	no	missense	H3F3C	NM_001013699.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	89/136	31944836	1,13005	2203	4300	6503	SO:0001583	missense	440093				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr12:31944836C>T	BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"""Histones / Replication-independent"""	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.265G>A	12.37:g.31944836C>T	ENSP00000339835:p.Val89Ile	HNSCC(67;0.2)					p.V89I	NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN			1	340	-			89					E9P281	Missense_Mutation	SNP	ENST00000340398.3	37	c.265G>A	CCDS31769.1	.	.	.	.	.	.	.	.	.	.	C	6.045	0.376565	0.11466	2.27E-4	0.0	ENSG00000188375	ENST00000340398	T	0.68025	-0.3	1.53	-3.06	0.05379	Histone-fold (2);Histone core (1);	0.329212	0.15866	N	0.240744	T	0.23410	0.0566	N	0.01152	-0.98	0.19945	N	0.999941	B	0.02656	0.0	B	0.04013	0.001	T	0.26573	-1.0099	10	0.02654	T	1	.	2.6347	0.04954	0.2232:0.1647:0.0:0.6121	.	89	Q6NXT2	H3C_HUMAN	I	89	ENSP00000339835:V89I	ENSP00000339835:V89I	V	-	1	0	H3F3C	31836103	0.998000	0.40836	0.001000	0.08648	0.007000	0.05969	0.624000	0.24462	-1.411000	0.02032	-1.306000	0.01317	GTC		PASS	0.577	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349653.1	NM_001013699		15	213	15	213	---	---	---	---
H3F3C	440093	broad.mit.edu	37	12	31944861	31944861	+	Silent	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:31944861A>G	ENST00000340398.3	-	1	314	c.240T>C	c.(238-240)acT>acC	p.T80T		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	80					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)	p.T80T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						ACCTCAGGTCAGTGTTGAAAT	0.577										HNSCC(67;0.2)																												uc001rkr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(238-240)ACT>ACC		histone H3-like							123.0	114.0	117.0					12																	31944861		2203	4300	6503	SO:0001819	synonymous_variant	440093				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr12:31944861A>G	BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"""Histones / Replication-independent"""	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.240T>C	12.37:g.31944861A>G		HNSCC(67;0.2)					p.T80T	NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN			1	315	-			80					E9P281	Silent	SNP	ENST00000340398.3	37	c.240T>C	CCDS31769.1																																																																																				PASS	0.577	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349653.1	NM_001013699		10	205	10	205	---	---	---	---
H3F3C	440093	broad.mit.edu	37	12	31944972	31944972	+	Silent	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:31944972A>G	ENST00000340398.3	-	1	203	c.129T>C	c.(127-129)ccT>ccC	p.P43P		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	43					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)	p.P43P(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						CCACGGTCCCAGGCCTGTAGC	0.617										HNSCC(67;0.2)																												uc001rkr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(127-129)CCT>CCC		histone H3-like							62.0	60.0	61.0					12																	31944972		2203	4300	6503	SO:0001819	synonymous_variant	440093				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr12:31944972A>G	BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"""Histones / Replication-independent"""	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.129T>C	12.37:g.31944972A>G		HNSCC(67;0.2)					p.P43P	NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN			1	204	-			43					E9P281	Silent	SNP	ENST00000340398.3	37	c.129T>C	CCDS31769.1																																																																																				PASS	0.617	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349653.1	NM_001013699		11	143	11	143	---	---	---	---
H3F3C	440093	broad.mit.edu	37	12	31945071	31945071	+	Silent	SNP	T	T	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:31945071T>C	ENST00000340398.3	-	1	104	c.30A>G	c.(28-30)aaA>aaG	p.K10K		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	10					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)	p.K10K(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						CACCGGTGGATTTACGAGCAG	0.607										HNSCC(67;0.2)																												uc001rkr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(28-30)AAA>AAG		histone H3-like							49.0	48.0	49.0					12																	31945071		2203	4300	6503	SO:0001819	synonymous_variant	440093				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr12:31945071T>C	BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"""Histones / Replication-independent"""	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.30A>G	12.37:g.31945071T>C		HNSCC(67;0.2)					p.K10K	NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN			1	105	-			10					E9P281	Silent	SNP	ENST00000340398.3	37	c.30A>G	CCDS31769.1																																																																																				PASS	0.607	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349653.1	NM_001013699		16	144	16	144	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43860461	43860461	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:43860461A>C	ENST00000389420.3	-	9	1360	c.1361T>G	c.(1360-1362)tTc>tGc	p.F454C	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.F454C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	454	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F454C(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTACTCTAGGAATTCAGTAAC	0.303																																						uc010skx.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(1360-1362)TTC>TGC		a disintegrin-like and metalloprotease with							87.0	90.0	89.0					12																	43860461		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43860461A>C	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1361T>G	12.37:g.43860461A>C	ENSP00000374071:p.Phe454Cys						p.F454C	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	9	1361	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	454			Peptidase M12B.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.1361T>G	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	A	19.02	3.746343	0.69418	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.08634	3.07;3.07	4.79	4.79	0.61399	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.53938	D	0.000050	T	0.42291	0.1196	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61436	-0.7063	10	0.87932	D	0	.	15.0441	0.71813	1.0:0.0:0.0:0.0	.	454	P59510	ATS20_HUMAN	C	454	ENSP00000374071:F454C;ENSP00000448341:F454C	ENSP00000374068:F454C	F	-	2	0	ADAMTS20	42146728	1.000000	0.71417	0.998000	0.56505	0.779000	0.44077	8.887000	0.92456	2.081000	0.62600	0.477000	0.44152	TTC		PASS	0.303	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		3	23	3	23	---	---	---	---
COL2A1	1280	broad.mit.edu	37	12	48383572	48383572	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:48383572T>G	ENST00000380518.3	-	17	1204	c.1040A>C	c.(1039-1041)gAt>gCt	p.D347A	COL2A1_ENST00000493991.1_5'Flank|COL2A1_ENST00000337299.6_Missense_Mutation_p.D278A	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	347	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.D347A(1)|p.D278A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGGCTGACCATCGTTGCCTCG	0.582																																						uc001rqu.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1039-1041)GAT>GCT		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						90.0	86.0	88.0					12																	48383572		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48383572T>G	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1040A>C	12.37:g.48383572T>G	ENSP00000369889:p.Asp347Ala					COL2A1_uc009zkw.2_5'Flank|COL2A1_uc001rqv.2_Missense_Mutation_p.D278A	p.D347A	NM_001844	NP_001835	P02458	CO2A1_HUMAN			17	1221	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	347			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.1040A>C	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.186165	0.57909	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.92545	-3.06;-3.06	3.35	3.35	0.38373	.	0.000000	0.85682	D	0.000000	D	0.94414	0.8203	L	0.61218	1.895	0.58432	D	0.999999	D;D	0.61080	0.989;0.981	D;D	0.77004	0.989;0.976	D	0.94454	0.7670	10	0.72032	D	0.01	.	11.6969	0.51548	0.0:0.0:0.0:1.0	.	278;347	P02458-1;P02458	.;CO2A1_HUMAN	A	347;278;278	ENSP00000369889:D347A;ENSP00000338213:D278A	ENSP00000338213:D278A	D	-	2	0	COL2A1	46669839	1.000000	0.71417	0.960000	0.40013	0.983000	0.72400	4.342000	0.59341	1.769000	0.52152	0.533000	0.62120	GAT		PASS	0.582	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		40	133	40	133	---	---	---	---
TUBA1B	10376	broad.mit.edu	37	12	49523150	49523150	+	Missense_Mutation	SNP	G	G	C	rs11546610		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:49523150G>C	ENST00000336023.5	-	3	344	c.250C>G	c.(250-252)Cgc>Ggc	p.R84G	RP11-386G11.10_ENST00000547712.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000551496.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	84					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.R84G(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						AAGAGCTGGCGGTAGGTGCCA	0.562																																						uc001rtm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(250-252)CGC>GGC		tubulin, alpha, ubiquitous							101.0	100.0	101.0					12																	49523150		2203	4300	6503	SO:0001583	missense	10376				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding	g.chr12:49523150G>C	AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"""Tubulins"""	18809	protein-coding gene	gene with protein product	"""tubulin, alpha, ubiquitous"""	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.250C>G	12.37:g.49523150G>C	ENSP00000336799:p.Arg84Gly					TUBA1B_uc001rto.2_Intron|TUBA1B_uc001rtk.2_Missense_Mutation_p.R49G|TUBA1B_uc001rtl.2_Missense_Mutation_p.R49G|TUBA1B_uc001rtn.2_Intron	p.R84G	NM_006082	NP_006073	P68363	TBA1B_HUMAN			3	471	-			84					P04687|P05209|Q27I68|Q8WU19	Missense_Mutation	SNP	ENST00000336023.5	37	c.250C>G	CCDS31792.1	.	.	.	.	.	.	.	.	.	.	g	9.019	0.984418	0.18889	.	.	ENSG00000123416	ENST00000336023;ENST00000550367;ENST00000549870;ENST00000547476;ENST00000552984	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	4.88	3.99	0.46301	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.42548	U	0.000695	T	0.57213	0.2038	L	0.33624	1.015	0.80722	D	1	B	0.34255	0.445	B	0.36808	0.233	T	0.60732	-0.7205	10	0.87932	D	0	.	12.1907	0.54270	0.085:0.0:0.915:0.0	.	84	P68363	TBA1B_HUMAN	G	84;84;49;49;49	ENSP00000336799:R84G;ENSP00000449325:R84G;ENSP00000449460:R49G;ENSP00000449748:R49G;ENSP00000448648:R49G	ENSP00000336799:R84G	R	-	1	0	TUBA1B	47809417	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.443000	0.66581	1.062000	0.40625	0.650000	0.86243	CGC		PASS	0.562	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409005.1	NM_006082		30	161	30	161	---	---	---	---
PRPH	5630	broad.mit.edu	37	12	49689166	49689166	+	Silent	SNP	T	T	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:49689166T>C	ENST00000257860.4	+	1	1682	c.183T>C	c.(181-183)cgT>cgC	p.R61R	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.R61R(1)		kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						GCAGCTTCCGTAGCCCCCGAG	0.736																																						uc001rtu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(181-183)CGT>CGC		peripherin							8.0	9.0	9.0					12																	49689166		2161	4216	6377	SO:0001819	synonymous_variant	5630						structural molecule activity	g.chr12:49689166T>C		CCDS8783.1	12q12-q13	2013-01-16						"""Intermediate filaments type III"""	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.183T>C	12.37:g.49689166T>C							p.R61R	NM_006262	NP_006253	P41219	PERI_HUMAN			1	258	+			61			Head.		Q5TFH5|Q6DK65	Silent	SNP	ENST00000257860.4	37	c.183T>C	CCDS8783.1																																																																																				PASS	0.736	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393381.1	NM_006262		16	20	16	20	---	---	---	---
DIP2B	57609	broad.mit.edu	37	12	51069161	51069161	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:51069161C>A	ENST00000301180.5	+	7	880	c.846C>A	c.(844-846)aaC>aaA	p.N282K		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	282						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.N282K(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						AGCTTCTGAACACTCTGAAAC	0.348																																						uc001rwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(1)|pancreas(1)	6						c.(844-846)AAC>AAA		DIP2 disco-interacting protein 2 homolog B							89.0	91.0	91.0					12																	51069161		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51069161C>A	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.846C>A	12.37:g.51069161C>A	ENSP00000301180:p.Asn282Lys					DIP2B_uc001rwu.2_Missense_Mutation_p.N282K|DIP2B_uc009zls.1_Missense_Mutation_p.N164K	p.N282K	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			7	1002	+			282					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.846C>A	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.714399	0.68730	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.44083	0.93	5.03	0.561	0.17285	.	0.040269	0.85682	D	0.000000	T	0.60843	0.2300	M	0.79805	2.47	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.61466	-0.7057	10	0.59425	D	0.04	-18.4275	9.8378	0.40980	0.0:0.5632:0.0:0.4368	.	282;292	Q9P265;E9PHD6	DIP2B_HUMAN;.	K	292;282	ENSP00000301180:N282K	ENSP00000301180:N282K	N	+	3	2	DIP2B	49355428	0.994000	0.37717	1.000000	0.80357	0.977000	0.68977	0.471000	0.22100	0.217000	0.20800	0.563000	0.77884	AAC		PASS	0.348	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		14	54	14	54	---	---	---	---
KRT77	374454	broad.mit.edu	37	12	53085745	53085746	+	Missense_Mutation	DNP	TC	TC	CA			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:53085745_53085746TC>CA	ENST00000341809.3	-	8	1466_1467	c.1438_1439GA>TG	c.(1438-1440)GAg>TGg	p.E480W	KRT77_ENST00000537195.1_Missense_Mutation_p.E247W|RP11-641A6.3_ENST00000547533.1_RNA	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	480	Tail.					cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.E480W(1)|p.E480G(1)|p.E480*(1)		NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GCTCTGCAGCTCTCCTGACATC	0.609																																						uc001saw.2																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	ovary(1)	1						c.(1438-1440)GAG>GGG|c.(1438-1440)GAG>TAG		keratin 77																																				SO:0001583	missense	374454					keratin filament	structural molecule activity	g.chr12:53085745T>C|g.chr12:53085746C>A	BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20411	protein-coding gene	gene with protein product		611158	"""keratin 1B"""	KRT1B		11683385, 16831889	Standard	NM_175078		Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.1438_1439delinsCA	12.37:g.53085745_53085746delinsCA	ENSP00000342710:p.Glu480Trp					KRT77_uc009zmi.2_Missense_Mutation_p.E238G|KRT77_uc009zmi.2_Nonsense_Mutation_p.E238*	p.E480G|p.E480*	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN			8	1468|1467	-			480			Tail.		Q7RTS8	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000341809.3	37	c.1439A>G|c.1438G>T	CCDS8837.1																																																																																				PASS	0.609	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	NM_175078		12	79|78	12	78	---	---	---	---
AMHR2	269	broad.mit.edu	37	12	53825169	53825169	+	Missense_Mutation	SNP	G	G	A	rs142064656		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:53825169G>A	ENST00000257863.4	+	11	1714	c.1634G>A	c.(1633-1635)aGg>aAg	p.R545K	AMHR2_ENST00000379791.3_Missense_Mutation_p.R450K|AMHR2_ENST00000550311.1_3'UTR	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	545					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)	p.R545K(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CTCCCCTGTAGGCCTCAGCGG	0.562																																						uc001scx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1633-1635)AGG>AAG		anti-Mullerian hormone receptor, type II isoform	Adenosine triphosphate(DB00171)						122.0	104.0	110.0					12																	53825169		2203	4300	6503	SO:0001583	missense	269	Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)			Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53825169G>A	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1634G>A	12.37:g.53825169G>A	ENSP00000257863:p.Arg545Lys					AMHR2_uc009zmy.1_3'UTR	p.R545K	NM_020547	NP_065434	Q16671	AMHR2_HUMAN			11	1712	+			545			Cytoplasmic (Potential).		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	ENST00000257863.4	37	c.1634G>A	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	G	9.711	1.157163	0.21454	.	.	ENSG00000135409	ENST00000257863;ENST00000379791	D;D	0.94138	-3.17;-3.36	4.86	2.99	0.34606	.	0.399012	0.18517	N	0.138871	D	0.84566	0.5500	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.75379	-0.3338	10	0.62326	D	0.03	.	5.9882	0.19446	0.0961:0.0:0.7167:0.1871	.	545	Q16671	AMHR2_HUMAN	K	545;450	ENSP00000257863:R545K;ENSP00000369117:R450K	ENSP00000257863:R545K	R	+	2	0	AMHR2	52111436	0.014000	0.17966	0.009000	0.14445	0.606000	0.37113	1.836000	0.39191	0.736000	0.32559	0.563000	0.77884	AGG		PASS	0.562	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		42	124	42	124	---	---	---	---
NFE2	4778	broad.mit.edu	37	12	54686872	54686872	+	Silent	SNP	A	A	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:54686872A>T	ENST00000540264.2	-	2	917	c.408T>A	c.(406-408)ccT>ccA	p.P136P	NFE2_ENST00000435572.2_Silent_p.P136P|NFE2_ENST00000312156.4_Silent_p.P136P|NFE2_ENST00000553070.1_Silent_p.P136P|RP11-968A15.8_ENST00000553061.1_RNA			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	136	Transactivation domain.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)	p.P136P(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						CTTGGGGCTTAGGTGGCCCTG	0.597																																						uc009znk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(406-408)CCT>CCA		nuclear factor, erythroid derived 2 isoform 1							101.0	105.0	104.0					12																	54686872		2203	4300	6503	SO:0001819	synonymous_variant	4778				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding	g.chr12:54686872A>T	BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"""basic leucine zipper proteins"""	7780	protein-coding gene	gene with protein product		601490	"""nuclear factor (erythroid-derived 2), 45kD"", ""nuclear factor (erythroid-derived 2), 45kDa"""			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.408T>A	12.37:g.54686872A>T						NFE2_uc001sfq.2_Silent_p.P136P|NFE2_uc001sfr.3_Silent_p.P136P|NFE2_uc009znl.2_Silent_p.P136P	p.P136P	NM_006163	NP_006154	Q16621	NFE2_HUMAN			2	918	-			136			Transactivation domain.		Q07720|Q6ICV9	Silent	SNP	ENST00000540264.2	37	c.408T>A	CCDS8876.1																																																																																				PASS	0.597	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405747.1	NM_006163		54	246	54	246	---	---	---	---
PRIM1	5557	broad.mit.edu	37	12	57146041	57146041	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:57146041T>A	ENST00000338193.6	-	1	78	c.42A>T	c.(40-42)aaA>aaT	p.K14N	PRIM1_ENST00000552408.1_5'Flank|HSD17B6_ENST00000555805.1_5'UTR|HSD17B6_ENST00000554643.1_5'Flank|HSD17B6_ENST00000555159.1_5'UTR|HSD17B6_ENST00000554150.1_5'Flank	NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	14					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.K14N(1)		kidney(1)|lung(6)|prostate(1)	8						GGTAATAAAGTTTAAGCAGCT	0.572																																						uc001smd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(40-42)AAA>AAT		DNA primase polypeptide 1							39.0	41.0	40.0					12																	57146041		1932	4130	6062	SO:0001583	missense	5557				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding	g.chr12:57146041T>A	BC005266	CCDS44926.1	12q13.3	2007-06-19	2007-06-19			ENSG00000198056			9369	protein-coding gene	gene with protein product		176635				8530050	Standard	NM_000946		Approved		uc001smd.3	P49642	OTTHUMG00000170034	ENST00000338193.6:c.42A>T	12.37:g.57146041T>A	ENSP00000350491:p.Lys14Asn					PRIM1_uc001sme.1_RNA|PRIM1_uc009zoz.1_RNA|PRIM1_uc001smf.2_Missense_Mutation_p.K14N	p.K14N	NM_000946	NP_000937	P49642	PRI1_HUMAN			1	106	-			14						Missense_Mutation	SNP	ENST00000338193.6	37	c.42A>T	CCDS44926.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.849479	0.71603	.	.	ENSG00000198056	ENST00000537418;ENST00000338193;ENST00000550770	T;T	0.45668	0.9;0.89	4.72	-0.615	0.11587	.	0.124760	0.56097	D	0.000038	T	0.26882	0.0658	N	0.24115	0.695	0.80722	D	1	B;P	0.37330	0.24;0.59	B;B	0.42555	0.085;0.391	T	0.04115	-1.0976	10	0.18710	T	0.47	-16.7446	7.9763	0.30157	0.0:0.4886:0.0:0.5114	.	14;14	F8VSB2;P49642	.;PRI1_HUMAN	N	14	ENSP00000350491:K14N;ENSP00000450185:K14N	ENSP00000350491:K14N	K	-	3	2	PRIM1	55432308	0.956000	0.32656	0.990000	0.47175	0.977000	0.68977	0.033000	0.13754	-0.212000	0.10109	0.459000	0.35465	AAA		PASS	0.572	PRIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406956.1	NM_000946		6	8	6	8	---	---	---	---
CFAP54	144535	broad.mit.edu	37	12	97137237	97137237	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:97137237G>T	ENST00000524981.4	+	53	7300	c.7277G>T	c.(7276-7278)aGc>aTc	p.S2426I				Q96N23	CL055_HUMAN		0								p.S851I(1)									GAGGCAAAAAGCGCAGGGGAC	0.413																																						uc001tet.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)	7						c.(2551-2553)AGC>ATC		hypothetical protein LOC374467							91.0	88.0	89.0					12																	97137237		2203	4300	6503	SO:0001583	missense	374467							g.chr12:97137237G>T																												ENST00000524981.4:c.7277G>T	12.37:g.97137237G>T	ENSP00000431759:p.Ser2426Ile						p.S851I	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			20	2630	+			851						Missense_Mutation	SNP	ENST00000524981.4	37	c.2552G>T		.	.	.	.	.	.	.	.	.	.	G	14.95	2.686914	0.48097	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.59	-5.48	0.02592	.	0.970511	0.08501	N	0.936411	T	0.31040	0.0784	L	0.40543	1.245	0.09310	N	1	P	0.35628	0.513	B	0.36989	0.238	T	0.41378	-0.9512	9	0.87932	D	0	-0.1545	8.3207	0.32128	0.4754:0.4002:0.1244:0.0	.	851	Q6ZTY8	CL063_HUMAN	I	2426;851	.	ENSP00000345466:S851I	S	+	2	0	C12orf63	95661368	0.000000	0.05858	0.001000	0.08648	0.711000	0.40976	0.116000	0.15561	-0.907000	0.03862	0.462000	0.41574	AGC		PASS	0.413	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			16	49	16	49	---	---	---	---
CFAP54	144535	broad.mit.edu	37	12	97151344	97151344	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:97151344C>G	ENST00000524981.4	+	58	8041	c.8018C>G	c.(8017-8019)tCa>tGa	p.S2673*				Q96N23	CL055_HUMAN		0								p.S1098*(1)									ATAAAAATTTCAGGATCACCA	0.303																																						uc001tet.1																			1	Substitution - Nonsense(1)		lung(1)	skin(6)|ovary(1)	7						c.(3292-3294)TCA>TGA		hypothetical protein LOC374467							50.0	50.0	50.0					12																	97151344		2201	4299	6500	SO:0001587	stop_gained	374467							g.chr12:97151344C>G																												ENST00000524981.4:c.8018C>G	12.37:g.97151344C>G	ENSP00000431759:p.Ser2673*						p.S1098*	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			25	3371	+			1098						Nonsense_Mutation	SNP	ENST00000524981.4	37	c.3293C>G		.	.	.	.	.	.	.	.	.	.	C	46	12.862094	0.99702	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.43	3.53	0.40419	.	0.495218	0.17027	N	0.189897	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-0.927	7.643	0.28305	0.1655:0.7492:0.0:0.0853	.	.	.	.	X	2673;1098	.	ENSP00000345466:S1098X	S	+	2	0	C12orf63	95675475	0.014000	0.17966	0.008000	0.14137	0.002000	0.02628	0.666000	0.25097	1.358000	0.45922	0.650000	0.86243	TCA		PASS	0.303	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			2	4	2	4	---	---	---	---
NUP37	79023	broad.mit.edu	37	12	102468178	102468178	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:102468178A>G	ENST00000552283.1	-	10	1074	c.935T>C	c.(934-936)gTa>gCa	p.V312A	RP11-554E23.4_ENST00000552707.1_RNA|NUP37_ENST00000251074.1_Missense_Mutation_p.V312A			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	312					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)		p.V312A(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						TCCTCCAATTACACACAGAGG	0.398																																						uc001tjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(934-936)GTA>GCA		nucleoporin 37kDa							81.0	70.0	74.0					12																	102468178		2203	4300	6503	SO:0001583	missense	79023				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr12:102468178A>G	AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"""WD repeat domain containing"""	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.935T>C	12.37:g.102468178A>G	ENSP00000448054:p.Val312Ala						p.V312A	NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN			9	1000	-			312			WD 4.		Q9H644	Missense_Mutation	SNP	ENST00000552283.1	37	c.935T>C	CCDS9089.1	.	.	.	.	.	.	.	.	.	.	A	11.67	1.709093	0.30322	.	.	ENSG00000075188	ENST00000552283;ENST00000251074	T;T	0.26373	1.74;1.74	6.08	1.14	0.20703	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.224288	0.47093	N	0.000243	T	0.10895	0.0266	N	0.13235	0.315	0.30322	N	0.787524	B	0.02656	0.0	B	0.01281	0.0	T	0.38950	-0.9637	10	0.02654	T	1	-5.7935	9.5618	0.39373	0.4038:0.0:0.5962:0.0	.	312	Q8NFH4	NUP37_HUMAN	A	312	ENSP00000448054:V312A;ENSP00000251074:V312A	ENSP00000251074:V312A	V	-	2	0	NUP37	100992308	0.922000	0.31269	0.469000	0.27204	0.924000	0.55760	1.526000	0.35964	0.159000	0.19401	-0.242000	0.12053	GTA		PASS	0.398	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057		15	10	15	10	---	---	---	---
USP30	84749	broad.mit.edu	37	12	109520498	109520498	+	Missense_Mutation	SNP	A	A	G	rs377141587		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:109520498A>G	ENST00000257548.5	+	10	991	c.898A>G	c.(898-900)Aag>Gag	p.K300E	USP30_ENST00000392784.2_Missense_Mutation_p.K269E	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	300	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.K291E(1)		endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						GAACGGGGAAAAGGTGGAACA	0.458																																						uc010sxi.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(898-900)AAG>GAG		ubiquitin specific peptidase 30		A	GLU/LYS	1,4405	2.1+/-5.4	0,1,2202	82.0	75.0	78.0		898	2.4	0.7	12		78	0,8600		0,0,4300	no	missense	USP30	NM_032663.3	56	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	300/518	109520498	1,13005	2203	4300	6503	SO:0001583	missense	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109520498A>G	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.898A>G	12.37:g.109520498A>G	ENSP00000257548:p.Lys300Glu					USP30_uc001tnu.3_Missense_Mutation_p.K269E|USP30_uc001tnw.3_Missense_Mutation_p.K17E	p.K300E	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN			10	1002	+			300			Cytoplasmic (Potential).		Q8WTU7|Q96JX4|Q9BSS3	Missense_Mutation	SNP	ENST00000257548.5	37	c.898A>G	CCDS9123.2	.	.	.	.	.	.	.	.	.	.	A	6.672	0.492551	0.12702	2.27E-4	0.0	ENSG00000135093	ENST00000392784;ENST00000257548	T;T	0.34859	1.34;1.34	4.86	2.38	0.29361	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.888106	0.09986	N	0.730341	T	0.19765	0.0475	N	0.17872	0.535	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.12156	0.007;0.003	T	0.31447	-0.9943	10	0.13108	T	0.6	-11.9021	4.8562	0.13561	0.6972:0.0:0.1628:0.14	.	300;269	Q70CQ3;B3KUS5	UBP30_HUMAN;.	E	269;300	ENSP00000376535:K269E;ENSP00000257548:K300E	ENSP00000257548:K300E	K	+	1	0	USP30	108004881	0.957000	0.32711	0.738000	0.30950	0.698000	0.40448	3.628000	0.54259	0.779000	0.33543	0.459000	0.35465	AAG		PASS	0.458	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		6	57	6	57	---	---	---	---
MMAB	326625	broad.mit.edu	37	12	109998843	109998843	+	Splice_Site	SNP	A	A	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:109998843A>T	ENST00000545712.2	-	7	978		c.e7+1		MMAB_ENST00000266839.5_Splice_Site|MMAB_ENST00000540016.1_Splice_Site	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type						cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)	p.?(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGCCCTCTTACCGTCTCTCG	0.652																																						uc001tou.2																			1	Unknown(1)		lung(1)		0						c.e7+1		cob(I)alamin adenosyltransferase precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						29.0	32.0	31.0					12																	109998843		2203	4298	6501	SO:0001630	splice_region_variant	326625				cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity	g.chr12:109998843A>T	AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"""ATP:cob(I)alamin adenosyltransferase"", ""cilia and flagella associated protein 23"""	607568	"""methylmalonic aciduria (cobalamin deficiency) type B"""			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.584+1T>A	12.37:g.109998843A>T						MMAB_uc001tov.2_Splice_Site|MMAB_uc001tow.2_Splice_Site|MMAB_uc010sxq.1_Splice_Site_p.R104_splice|MMAB_uc001tox.2_Splice_Site_p.R143_splice	p.R195_splice	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN			7	657	-								C5HU05|Q9BSH0	Splice_Site	SNP	ENST00000545712.2	37	c.584_splice	CCDS9131.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.117052	0.77323	.	.	ENSG00000139428	ENST00000545712;ENST00000266839	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4114	0.55469	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MMAB	108483226	1.000000	0.71417	0.998000	0.56505	0.856000	0.48823	6.656000	0.74396	2.058000	0.61347	0.528000	0.53228	.		PASS	0.652	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2		Intron	15	58	15	58	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112669453	112669453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:112669453G>A	ENST00000430131.2	-	38	5943	c.4798C>T	c.(4798-4800)Cag>Tag	p.Q1600*	HECTD4_ENST00000377560.5_Nonsense_Mutation_p.Q1850*|HECTD4_ENST00000550722.1_Nonsense_Mutation_p.Q1876*			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1600					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.Q1600*(1)|p.Q1850*(1)									AGGCCTGACTGTGCCCACTTG	0.542																																						uc009zwc.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|lung(1)	2						c.(4798-4800)CAG>TAG		chromosome 12 open reading frame 51							52.0	53.0	53.0					12																	112669453		1935	4148	6083	SO:0001587	stop_gained	283450							g.chr12:112669453G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.4798C>T	12.37:g.112669453G>A	ENSP00000404379:p.Gln1600*						p.Q1600*	NM_001109662	NP_001103132					32	4816	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Nonsense_Mutation	SNP	ENST00000430131.2	37	c.4798C>T		.	.	.	.	.	.	.	.	.	.	G	53	20.433251	0.99930	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.2147	0.98293	0.0:0.0:1.0:0.0	.	.	.	.	X	1850;1600;1876	.	ENSP00000366783:Q1850X	Q	-	1	0	C12orf51	111153836	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.785000	0.95823	0.591000	0.81541	CAG		PASS	0.542	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		25	58	25	58	---	---	---	---
PLBD2	196463	broad.mit.edu	37	12	113823073	113823073	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:113823073C>G	ENST00000280800.3	+	9	1302	c.1271C>G	c.(1270-1272)gCc>gGc	p.A424G	PLBD2_ENST00000545182.2_Missense_Mutation_p.A392G	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	424					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.A424G(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ACCTACTGGGCCAGCTACAAC	0.582																																						uc001tve.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1270-1272)GCC>GGC		phospholipase B domain containing 2 isoform 1							210.0	146.0	168.0					12																	113823073		2203	4300	6503	SO:0001583	missense	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113823073C>G	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1271C>G	12.37:g.113823073C>G	ENSP00000280800:p.Ala424Gly					PLBD2_uc001tvf.2_Missense_Mutation_p.A392G	p.A424G	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN			9	1306	+			424					F5H5E2	Missense_Mutation	SNP	ENST00000280800.3	37	c.1271C>G	CCDS9168.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611860	0.46631	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.20881	2.04;2.04	5.04	3.17	0.36434	.	0.052179	0.85682	D	0.000000	T	0.27134	0.0665	M	0.71581	2.175	0.41534	D	0.988477	B;B	0.32507	0.373;0.048	B;B	0.35607	0.133;0.206	T	0.04178	-1.0971	10	0.36615	T	0.2	-19.5329	14.0372	0.64651	0.2744:0.7256:0.0:0.0	.	392;424	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	G	392;424	ENSP00000443463:A392G;ENSP00000280800:A424G	ENSP00000280800:A424G	A	+	2	0	PLBD2	112307456	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	5.847000	0.69451	0.494000	0.27859	0.555000	0.69702	GCC		PASS	0.582	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		34	55	34	55	---	---	---	---
NOS1	4842	broad.mit.edu	37	12	117696860	117696860	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:117696860C>T	ENST00000338101.4	-	14	2447	c.2443G>A	c.(2443-2445)Ggc>Agc	p.G815S	NOS1_ENST00000317775.6_Missense_Mutation_p.G815S|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.G815S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TCTCCATTGCCAAAGGTGCTG	0.507																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)	7						c.(2443-2445)GGC>AGC		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						109.0	108.0	108.0					12																	117696860		2029	4205	6234	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117696860C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2443G>A	12.37:g.117696860C>T	ENSP00000337459:p.Gly815Ser					NOS1_uc001twn.1_5'Flank	p.G815S	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	15	3129	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		815			Flavodoxin-like.			Missense_Mutation	SNP	ENST00000338101.4	37	c.2443G>A	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	35	5.465528	0.96257	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.73152	-0.72;-0.72	4.95	4.95	0.65309	Flavodoxin/nitric oxide synthase (2);	0.000000	0.85682	D	0.000000	D	0.89424	0.6711	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92738	0.6205	10	0.87932	D	0	-28.7058	17.9604	0.89083	0.0:1.0:0.0:0.0	.	815	P29475	NOS1_HUMAN	S	710;815;815;815	ENSP00000320758:G815S;ENSP00000337459:G815S	ENSP00000320758:G815S	G	-	1	0	NOS1	116181243	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.555000	0.82223	2.560000	0.86352	0.655000	0.94253	GGC		PASS	0.507	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			24	55	24	55	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124272399	124272399	+	Silent	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:124272399C>A	ENST00000409039.3	+	10	1312	c.1287C>A	c.(1285-1287)acC>acA	p.T429T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	429	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.T429T(1)|p.T247T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCAGGAACACCCTCAGGCTGT	0.582																																						uc001uft.3																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1285-1287)ACC>ACA		dynein, axonemal, heavy chain 10							53.0	52.0	53.0					12																	124272399		2203	4300	6503	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124272399C>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1287C>A	12.37:g.124272399C>A						DNAH10_uc010tav.1_5'Flank|DNAH10_uc010taw.1_5'Flank	p.T429T	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	10	1312	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		429			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.1287C>A	CCDS9255.2																																																																																				PASS	0.582	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			7	10	7	10	---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124841232	124841232	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:124841232G>A	ENST00000405201.1	-	23	3197	c.3197C>T	c.(3196-3198)tCc>tTc	p.S1066F	NCOR2_ENST00000429285.2_Missense_Mutation_p.S1056F|NCOR2_ENST00000356219.3_Missense_Mutation_p.S1073F|NCOR2_ENST00000404121.2_Missense_Mutation_p.S627F|NCOR2_ENST00000404621.1_Missense_Mutation_p.S1056F|NCOR2_ENST00000397355.1_Missense_Mutation_p.S1057F			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1074					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.S1066F(1)|p.S1073F(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCATGCGGGGAGGCCTTGAT	0.672																																						uc010tba.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(3220-3222)TCC>TTC		nuclear receptor co-repressor 2 isoform 2							20.0	25.0	23.0					12																	124841232		1922	4113	6035	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124841232G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3197C>T	12.37:g.124841232G>A	ENSP00000384018:p.Ser1066Phe					NCOR2_uc010tay.1_Missense_Mutation_p.S1073F|NCOR2_uc010taz.1_Missense_Mutation_p.S1057F|NCOR2_uc010tbb.1_Missense_Mutation_p.S1066F|NCOR2_uc010tbc.1_Missense_Mutation_p.S1056F|NCOR2_uc001ugj.1_Missense_Mutation_p.S1074F	p.S1074F	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	23	3338	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1074					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.3221C>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155824	0.57259	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.43294	1.77;2.04;1.78;2.04;1.78;2.04;0.95	4.88	4.88	0.63580	.	0.120375	0.56097	D	0.000024	T	0.62514	0.2434	M	0.62723	1.935	0.52099	D	0.999948	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.83275	0.991;0.991;0.996	T	0.66536	-0.5899	10	0.87932	D	0	-37.871	16.205	0.82120	0.0:0.0:1.0:0.0	.	1056;1057;1066	C9J0Q5;C9J239;C9JFD3	.;.;.	F	1066;1056;1073;1057;1065;627;1056;1074	ENSP00000384018:S1066F;ENSP00000384202:S1056F;ENSP00000348551:S1073F;ENSP00000380513:S1057F;ENSP00000385618:S627F;ENSP00000400281:S1056F;ENSP00000402808:S1074F	ENSP00000348551:S1073F	S	-	2	0	NCOR2	123407185	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	6.193000	0.72075	2.256000	0.74724	0.561000	0.74099	TCC		PASS	0.672	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		20	28	20	28	---	---	---	---
SKA3	221150	broad.mit.edu	37	13	21742475	21742475	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr13:21742475G>C	ENST00000314759.5	-	4	519	c.395C>G	c.(394-396)aCt>aGt	p.T132S	SKA3_ENST00000400018.3_Missense_Mutation_p.T132S	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	132					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)		p.T132S(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TTTCACATCAGTCTTCTGAAA	0.408																																						uc001unt.2																			2	Substitution - Missense(2)		lung(2)		0						c.(394-396)ACT>AGT		SKA3							70.0	76.0	74.0					13																	21742475		2203	4300	6503	SO:0001583	missense	221150				cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21742475G>C	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 3"""	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.395C>G	13.37:g.21742475G>C	ENSP00000319417:p.Thr132Ser					SKA3_uc001unv.2_Missense_Mutation_p.T50S|SKA3_uc001unu.2_Missense_Mutation_p.T132S	p.T132S	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN			4	489	-			132					A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	ENST00000314759.5	37	c.395C>G	CCDS31946.1	.	.	.	.	.	.	.	.	.	.	G	0.851	-0.738471	0.03111	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	T;T	0.20881	2.05;2.04	5.35	4.51	0.55191	.	0.790400	0.11418	N	0.566139	T	0.13243	0.0321	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.30534	-0.9975	10	0.09590	T	0.72	-0.005	9.8116	0.40826	0.0921:0.0:0.9079:0.0	.	132;132	Q8IX90-3;Q8IX90	.;SKA3_HUMAN	S	132	ENSP00000319417:T132S;ENSP00000382896:T132S	ENSP00000319417:T132S	T	-	2	0	SKA3	20640475	0.959000	0.32827	0.003000	0.11579	0.011000	0.07611	5.443000	0.66581	1.493000	0.48517	0.655000	0.94253	ACT		PASS	0.408	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061		20	46	20	46	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25672058	25672058	+	Silent	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr13:25672058G>T	ENST00000281589.3	+	1	1759	c.1722G>T	c.(1720-1722)ggG>ggT	p.G574G		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	574	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.G574G(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CTCTTGCTGGGAAAATCACTG	0.463																																						uc001upy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1720-1722)GGG>GGT		poly(A) binding protein, cytoplasmic 3							124.0	118.0	120.0					13																	25672058		2203	4300	6503	SO:0001819	synonymous_variant	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25672058G>T	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1722G>T	13.37:g.25672058G>T							p.G574G	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1783	+		Lung SC(185;0.0225)|Breast(139;0.0602)	574			PABC.		Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	37	c.1722G>T	CCDS9311.1																																																																																				PASS	0.463	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		6	150	6	150	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25672105	25672105	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr13:25672105A>C	ENST00000281589.3	+	1	1806	c.1769A>C	c.(1768-1770)tAt>tCt	p.Y590S		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	590	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.Y590S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GAACTTCTTTATATGCTCGAG	0.448																																						uc001upy.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1768-1770)TAT>TCT		poly(A) binding protein, cytoplasmic 3							125.0	124.0	124.0					13																	25672105		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25672105A>C	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1769A>C	13.37:g.25672105A>C	ENSP00000281589:p.Tyr590Ser						p.Y590S	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1830	+		Lung SC(185;0.0225)|Breast(139;0.0602)	590			PABC.		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.1769A>C	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	A	12.23	1.874183	0.33069	.	.	ENSG00000151846	ENST00000281589	T	0.39592	1.07	0.875	0.875	0.19130	Polyadenylate-binding protein/Hyperplastic disc protein (5);	0.126088	0.33477	U	0.004874	T	0.16300	0.0392	N	0.03000	-0.44	0.25441	N	0.988094	B	0.10296	0.003	B	0.12156	0.007	T	0.16041	-1.0416	10	0.51188	T	0.08	.	5.8995	0.18957	1.0:0.0:0.0:0.0	.	590	Q9H361	PABP3_HUMAN	S	590	ENSP00000281589:Y590S	ENSP00000281589:Y590S	Y	+	2	0	PABPC3	24570105	1.000000	0.71417	0.634000	0.29324	0.484000	0.33280	4.602000	0.61098	0.632000	0.30432	0.260000	0.18958	TAT		PASS	0.448	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		14	131	14	131	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25672188	25672188	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr13:25672188A>G	ENST00000281589.3	+	1	1889	c.1852A>G	c.(1852-1854)Acc>Gcc	p.T618A		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	618					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.T618A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TAAAGAGGCTACCCAGAAAGC	0.408																																						uc001upy.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1852-1854)ACC>GCC		poly(A) binding protein, cytoplasmic 3							112.0	118.0	116.0					13																	25672188		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25672188A>G	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1852A>G	13.37:g.25672188A>G	ENSP00000281589:p.Thr618Ala						p.T618A	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1913	+		Lung SC(185;0.0225)|Breast(139;0.0602)	618					Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.1852A>G	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	A	1.860	-0.462980	0.04476	.	.	ENSG00000151846	ENST00000281589	T	0.37915	1.17	0.875	-1.75	0.08031	Polyadenylate-binding protein/Hyperplastic disc protein (2);	0.133482	0.31472	N	0.007583	T	0.06645	0.0170	N	0.00566	-1.37	0.23577	N	0.997378	B	0.02656	0.0	B	0.01281	0.0	T	0.38329	-0.9666	10	0.02654	T	1	.	5.3909	0.16244	0.2494:0.0:0.7506:0.0	.	618	Q9H361	PABP3_HUMAN	A	618	ENSP00000281589:T618A	ENSP00000281589:T618A	T	+	1	0	PABPC3	24570188	1.000000	0.71417	0.997000	0.53966	0.560000	0.35617	2.112000	0.41892	-0.150000	0.11195	-0.736000	0.03550	ACC		PASS	0.408	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		12	165	12	165	---	---	---	---
MTMR6	9107	broad.mit.edu	37	13	25840394	25840394	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr13:25840394T>C	ENST00000381801.5	-	4	1096	c.335A>G	c.(334-336)tAt>tGt	p.Y112C	MTMR6_ENST00000540661.1_Missense_Mutation_p.Y112C	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	112					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.Y112C(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TTTGGGATTATAAGAAAATGC	0.338																																						uc001uqf.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(334-336)TAT>TGT		myotubularin related protein 6							72.0	70.0	70.0					13																	25840394		2203	4300	6503	SO:0001583	missense	9107					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr13:25840394T>C	AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.335A>G	13.37:g.25840394T>C	ENSP00000371221:p.Tyr112Cys					MTMR6_uc001uqe.1_Missense_Mutation_p.Y112C	p.Y112C	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)	4	654	-		Lung SC(185;0.0225)|Breast(139;0.0351)	112					B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	c.335A>G	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.245066	0.79912	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.85088	-1.94;-1.94	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.93337	0.7876	M	0.90369	3.11	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71656	0.968;0.974	D	0.94601	0.7796	10	0.72032	D	0.01	.	15.2779	0.73756	0.0:0.0:0.0:1.0	.	112;112	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	C	112	ENSP00000443161:Y112C;ENSP00000371221:Y112C	ENSP00000371221:Y112C	Y	-	2	0	MTMR6	24738394	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.649000	0.83500	2.018000	0.59344	0.528000	0.53228	TAT		PASS	0.338	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685		9	18	9	18	---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109459128	109459128	+	Silent	SNP	C	C	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr13:109459128C>G	ENST00000357550.2	+	6	818	c.777C>G	c.(775-777)ctC>ctG	p.L259L	MYO16_ENST00000356711.2_Silent_p.L259L|MYO16_ENST00000251041.5_Silent_p.L259L	NM_001198950.1	NP_001185879.1			myosin XVI									p.L259L(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GGACTCCCCTCCACTTGGCAG	0.388																																						uc001vqt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(775-777)CTC>CTG		myosin heavy chain Myr 8							120.0	110.0	113.0					13																	109459128		2203	4300	6503	SO:0001819	synonymous_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109459128C>G		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.777C>G	13.37:g.109459128C>G						MYO16_uc010agk.1_Silent_p.L281L|MYO16_uc001vqu.1_Silent_p.L59L	p.L259L	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		7	903	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		259			ANK 7.			Silent	SNP	ENST00000357550.2	37	c.777C>G	CCDS32008.1																																																																																				PASS	0.388	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		17	17	17	17	---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33165250	33165250	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr14:33165250G>C	ENST00000280979.4	+	9	3104	c.2934G>C	c.(2932-2934)atG>atC	p.M978I	AKAP6_ENST00000557272.1_Missense_Mutation_p.M978I|AKAP6_ENST00000557354.1_Missense_Mutation_p.M978I	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	978					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.M978I(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGATTGACATGGAGTCCCTTG	0.463																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2																			1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(2932-2934)ATG>ATC		A-kinase anchor protein 6							134.0	114.0	121.0					14																	33165250		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33165250G>C	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.2934G>C	14.37:g.33165250G>C	ENSP00000280979:p.Met978Ile					AKAP6_uc010aml.2_Missense_Mutation_p.M975I	p.M978I	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	9	3104	+	Breast(36;0.0388)|Prostate(35;0.15)		978					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.2934G>C	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560247	0.65538	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.24723	3.08;1.87;1.84	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.32852	0.0843	N	0.12182	0.205	0.58432	D	0.999997	D;D	0.59357	0.985;0.985	P;P	0.61201	0.885;0.885	T	0.33189	-0.9878	10	0.62326	D	0.03	-14.4939	19.0273	0.92937	0.0:0.0:1.0:0.0	.	978;978	A7E242;Q13023	.;AKAP6_HUMAN	I	978	ENSP00000280979:M978I;ENSP00000450531:M978I;ENSP00000451247:M978I	ENSP00000280979:M978I	M	+	3	0	AKAP6	32235001	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.334000	0.96470	2.504000	0.84457	0.650000	0.86243	ATG		PASS	0.463	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		6	30	6	30	---	---	---	---
PAX9	5083	broad.mit.edu	37	14	37145492	37145492	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr14:37145492G>C	ENST00000361487.6	+	4	1086	c.861G>C	c.(859-861)atG>atC	p.M287I	PAX9_ENST00000554201.1_Nonstop_Mutation_p.*97S|PAX9_ENST00000402703.2_Missense_Mutation_p.M287I|PAX9_ENST00000557107.1_3'UTR			P55771	PAX9_HUMAN	paired box 9	287					cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	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)	p.M287I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		CGCCTTACATGACCTACAGTG	0.562																																						uc001wty.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(859-861)ATG>ATC		paired box 9							182.0	150.0	161.0					14																	37145492		2203	4300	6503	SO:0001583	missense	5083				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr14:37145492G>C	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"""Paired boxes"""	8623	protein-coding gene	gene with protein product		167416	"""paired box gene 9"""			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.861G>C	14.37:g.37145492G>C	ENSP00000355245:p.Met287Ile					PAX9_uc010amq.2_RNA	p.M287I	NM_006194	NP_006185	P55771	PAX9_HUMAN	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)	5	1578	+	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		287					Q99582|Q9UQR4	Missense_Mutation	SNP	ENST00000361487.6	37	c.861G>C	CCDS9662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.12|18.12	3.554096|3.554096	0.65425|0.65425	.|.	.|.	ENSG00000198807|ENSG00000198807	ENST00000402703;ENST00000361487|ENST00000554201	D;D|.	0.98822|.	-5.16;-5.16|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.071748|.	0.85682|.	D|.	0.000000|.	T|.	0.76392|.	0.3981|.	M|M	0.66939|0.66939	2.045|2.045	0.58432|0.58432	D|D	0.999998|0.999998	P|.	0.34662|.	0.462|.	B|.	0.28553|.	0.091|.	T|.	0.71892|.	-0.4455|.	10|.	0.23891|.	T|.	0.37|.	.|.	20.8598|20.8598	0.99761|0.99761	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	287|.	P55771|.	PAX9_HUMAN|.	I|S	287|97	ENSP00000384817:M287I;ENSP00000355245:M287I|.	ENSP00000355245:M287I|.	M|X	+|+	3|2	0|2	PAX9|PAX9	36215243|36215243	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.035000|9.035000	0.93752|0.93752	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	ATG|TGA		PASS	0.562	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2			202	161	202	161	---	---	---	---
MIPOL1	145282	broad.mit.edu	37	14	38016160	38016160	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr14:38016160T>G	ENST00000327441.7	+	14	1779	c.1313T>G	c.(1312-1314)aTg>aGg	p.M438R	MIPOL1_ENST00000396294.2_Missense_Mutation_p.M438R|MIPOL1_ENST00000536774.1_Missense_Mutation_p.M257R|MIPOL1_ENST00000539062.2_Missense_Mutation_p.M407R|MIPOL1_ENST00000537471.1_Missense_Mutation_p.M438R	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	438						nucleus (GO:0005634)		p.M438R(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		ACCGGGACCATGAGGACAGTG	0.483																																						uc001wuc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1312-1314)ATG>AGG		mirror-image polydactyly 1							134.0	119.0	124.0					14																	38016160		2203	4300	6503	SO:0001583	missense	145282							g.chr14:38016160T>G	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.1313T>G	14.37:g.38016160T>G	ENSP00000333539:p.Met438Arg					MIPOL1_uc001wud.2_Missense_Mutation_p.M438R|MIPOL1_uc010ams.2_Missense_Mutation_p.M438R|MIPOL1_uc001wue.2_Missense_Mutation_p.M407R|MIPOL1_uc010amt.2_Missense_Mutation_p.M257R	p.M438R	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)	14	1816	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		438					D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	SNP	ENST00000327441.7	37	c.1313T>G	CCDS9664.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.929346	0.52759	.	.	ENSG00000151338	ENST00000327441;ENST00000536774;ENST00000539062;ENST00000396294;ENST00000537471	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.96	5.96	0.96718	.	0.632318	0.15947	N	0.236886	T	0.41143	0.1146	L	0.36672	1.1	0.33232	D	0.555995	P	0.41569	0.755	B	0.41813	0.367	T	0.56679	-0.7939	10	0.66056	D	0.02	3.5538	16.4447	0.83919	0.0:0.0:0.0:1.0	.	438	Q8TD10	MIPO1_HUMAN	R	438;257;407;438;438	ENSP00000333539:M438R;ENSP00000438319:M407R;ENSP00000379589:M438R;ENSP00000444254:M438R	ENSP00000333539:M438R	M	+	2	0	MIPOL1	37085911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.396000	0.73234	2.284000	0.76573	0.528000	0.53228	ATG		PASS	0.483	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	NM_138731		8	32	8	32	---	---	---	---
TMEM63C	57156	broad.mit.edu	37	14	77709389	77709389	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr14:77709389A>G	ENST00000298351.4	+	15	1475	c.1331A>G	c.(1330-1332)gAg>gGg	p.E444G		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	444					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)	p.E444G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CGCCCCATCGAGAAGCTGCAG	0.572																																						uc001xtf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1330-1332)GAG>GGG		transmembrane protein 63C							38.0	39.0	39.0					14																	77709389		1987	4166	6153	SO:0001583	missense	57156					integral to membrane		g.chr14:77709389A>G		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.1331A>G	14.37:g.77709389A>G	ENSP00000298351:p.Glu444Gly					TMEM63C_uc010asq.1_Missense_Mutation_p.E444G	p.E444G	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)	15	1543	+			444					B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Missense_Mutation	SNP	ENST00000298351.4	37	c.1331A>G	CCDS45141.1	.	.	.	.	.	.	.	.	.	.	A	18.43	3.623035	0.66901	.	.	ENSG00000165548	ENST00000298351;ENST00000536110	T	0.30714	1.52	4.88	3.72	0.42706	Domain of unknown function DUF221 (1);	0.157600	0.56097	D	0.000038	T	0.33265	0.0857	L	0.56280	1.765	0.80722	D	1	B	0.29188	0.236	B	0.37943	0.261	T	0.24657	-1.0154	10	0.52906	T	0.07	-21.9005	10.6052	0.45390	0.9227:0.0:0.0773:0.0	.	444	Q9P1W3	TM63C_HUMAN	G	444;14	ENSP00000298351:E444G	ENSP00000298351:E444G	E	+	2	0	TMEM63C	76779142	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.514000	0.81750	1.834000	0.53371	0.459000	0.35465	GAG		PASS	0.572	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1			42	5	42	5	---	---	---	---
CYP46A1	10858	broad.mit.edu	37	14	100173937	100173937	+	Silent	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr14:100173937G>T	ENST00000261835.3	+	7	719	c.615G>T	c.(613-615)ctG>ctT	p.L205L	CYP46A1_ENST00000423126.2_Silent_p.L108L|CYP46A1_ENST00000554176.1_Silent_p.L52L	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	205					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)	p.L205L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GTATGCTGCTGGGTGCCCAGA	0.592																																						uc001ygo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(613-615)CTG>CTT		cytochrome P450, family 46							105.0	93.0	97.0					14																	100173937		2203	4300	6503	SO:0001819	synonymous_variant	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100173937G>T	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.615G>T	14.37:g.100173937G>T						CYP46A1_uc001ygn.1_Silent_p.L167L|CYP46A1_uc001ygp.2_Silent_p.L52L	p.L205L	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN			7	615	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	205					B4DHP8|E7EQG9|Q8N2B0	Silent	SNP	ENST00000261835.3	37	c.615G>T	CCDS9954.1	.	.	.	.	.	.	.	.	.	.	G	9.611	1.131298	0.21041	.	.	ENSG00000036530	ENST00000380228	.	.	.	4.48	2.48	0.30137	.	.	.	.	.	T	0.52581	0.1743	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46665	-0.9175	4	.	.	.	.	5.493	0.16787	0.1092:0.2041:0.6867:0.0	.	.	.	.	W	192	.	.	G	+	1	0	CYP46A1	99243690	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.420000	0.21263	1.201000	0.43203	0.557000	0.71058	GGG		PASS	0.592	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			82	163	82	163	---	---	---	---
PLD4	122618	broad.mit.edu	37	14	105398383	105398383	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr14:105398383G>T	ENST00000392593.4	+	9	1261	c.1093G>T	c.(1093-1095)Gca>Tca	p.A365S	PLD4_ENST00000553861.1_5'Flank|PLD4_ENST00000540372.1_Missense_Mutation_p.A372S	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	365					glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)	p.A365S(1)|p.A348S(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			GCTGCGGGCGGCAGCCTTCGG	0.711																																						uc001ypu.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(1093-1095)GCA>TCA		phospholipase D4	Choline(DB00122)						11.0	14.0	13.0					14																	105398383		2030	4154	6184	SO:0001583	missense	122618				lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity	g.chr14:105398383G>T		CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 175"""	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.1093G>T	14.37:g.105398383G>T	ENSP00000376372:p.Ala365Ser					PLD4_uc010tyl.1_Missense_Mutation_p.A372S	p.A365S	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		9	1234	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	365					Q6UWD2	Missense_Mutation	SNP	ENST00000392593.4	37	c.1093G>T	CCDS9995.2	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597651	0.66332	.	.	ENSG00000166428	ENST00000540372;ENST00000392593	T;T	0.38401	1.14;1.15	4.03	4.03	0.46877	Phospholipase D/viral envelope (1);	0.150726	0.43579	D	0.000552	T	0.68192	0.2974	M	0.92880	3.355	0.80722	D	1	D;D	0.57257	0.974;0.979	P;D	0.71656	0.901;0.974	T	0.79145	-0.1924	10	0.87932	D	0	-5.7237	16.5363	0.84373	0.0:0.0:1.0:0.0	.	372;365	F5H2B5;Q96BZ4	.;PLD4_HUMAN	S	372;365	ENSP00000438677:A372S;ENSP00000376372:A365S	ENSP00000376372:A365S	A	+	1	0	PLD4	104469428	1.000000	0.71417	0.118000	0.21660	0.010000	0.07245	7.557000	0.82243	1.981000	0.57761	0.556000	0.70494	GCA		PASS	0.711	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000291348.2	NM_138790		5	49	5	49	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105423996	105423996	+	Silent	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr14:105423996C>T	ENST00000333244.5	-	2	188	c.69G>A	c.(67-69)caG>caA	p.Q23Q		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	23						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.Q23Q(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGGGCTGCAGCTGACGGCCGG	0.622																																						uc010axc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(67-69)CAG>CAA		AHNAK nucleoprotein 2							15.0	17.0	16.0					14																	105423996		2011	4177	6188	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105423996C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.69G>A	14.37:g.105423996C>T						AHNAK2_uc001ypx.2_5'UTR	p.Q23Q	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		2	189	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	23					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.69G>A	CCDS45177.1																																																																																				PASS	0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		10	15	10	15	---	---	---	---
MKRN3	7681	broad.mit.edu	37	15	23812425	23812425	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr15:23812425T>A	ENST00000314520.3	+	1	1972	c.1496T>A	c.(1495-1497)cTg>cAg	p.L499Q	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	499					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.L499Q(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CATTATGAGCTGGAAGAATAT	0.473																																						uc001ywh.3																			1	Substitution - Missense(1)		lung(1)	lung(6)|large_intestine(2)|ovary(2)	10						c.(1495-1497)CTG>CAG		makorin ring finger protein 3							123.0	119.0	120.0					15																	23812425		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23812425T>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.1496T>A	15.37:g.23812425T>A	ENSP00000313881:p.Leu499Gln					MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Intron	p.L499Q	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1972	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	499						Missense_Mutation	SNP	ENST00000314520.3	37	c.1496T>A	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.958400	0.34565	.	.	ENSG00000179455	ENST00000314520	T	0.49720	0.77	4.09	1.79	0.24919	.	0.237508	0.27388	N	0.019589	T	0.53142	0.1778	L	0.58101	1.795	0.47094	D	0.999318	D	0.58620	0.983	P	0.58660	0.843	T	0.51204	-0.8735	10	0.66056	D	0.02	.	5.6687	0.17711	0.0:0.2179:0.0:0.7821	.	499	Q13064	MKRN3_HUMAN	Q	499	ENSP00000313881:L499Q	ENSP00000313881:L499Q	L	+	2	0	MKRN3	21363518	1.000000	0.71417	0.968000	0.41197	0.084000	0.17831	2.040000	0.41203	0.385000	0.24970	0.460000	0.39030	CTG		PASS	0.473	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		41	83	41	83	---	---	---	---
APBA2	321	broad.mit.edu	37	15	29368283	29368283	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr15:29368283G>A	ENST00000558402.1	+	7	1657	c.1058G>A	c.(1057-1059)aGt>aAt	p.S353N	APBA2_ENST00000411764.1_Missense_Mutation_p.S353N|APBA2_ENST00000561069.1_Missense_Mutation_p.S353N|APBA2_ENST00000558259.1_Missense_Mutation_p.S353N|APBA2_ENST00000558330.1_Missense_Mutation_p.S353N			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	353					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.S353N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TCATTTCCAAGTTTTGTGGCT	0.373																																						uc001zck.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1057-1059)AGT>AAT		amyloid beta A4 precursor protein-binding,							173.0	176.0	175.0					15																	29368283		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29368283G>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1058G>A	15.37:g.29368283G>A	ENSP00000453293:p.Ser353Asn					APBA2_uc010azj.2_Missense_Mutation_p.S353N|APBA2_uc010uat.1_Missense_Mutation_p.S353N|APBA2_uc001zcl.2_Missense_Mutation_p.S353N|APBA2_uc001zcm.1_Missense_Mutation_p.S57N	p.S353N	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	5	1265	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	353					E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.1058G>A	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642442	0.47153	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.05925	3.37	4.85	3.93	0.45458	.	0.209202	0.46145	D	0.000309	T	0.10895	0.0266	M	0.63843	1.955	0.49299	D	0.999772	B;B;B;B	0.32717	0.381;0.079;0.22;0.136	B;B;B;B	0.37550	0.253;0.058;0.11;0.091	T	0.03354	-1.1045	10	0.52906	T	0.07	.	12.9533	0.58413	0.0:0.1641:0.8359:0.0	.	353;57;353;353	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	N	353;353;57	ENSP00000409312:S353N	ENSP00000219865:S353N	S	+	2	0	APBA2	27155575	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	7.375000	0.79646	1.029000	0.39812	-0.165000	0.13383	AGT		PASS	0.373	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		60	42	60	42	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34080535	34080535	+	Silent	SNP	T	T	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr15:34080535T>C	ENST00000389232.4	+	67	9776	c.9706T>C	c.(9706-9708)Ttg>Ctg	p.L3236L	RYR3_ENST00000415757.3_Silent_p.L3236L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3236					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.L3236L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAGGAGCAGTTGAAAGCCGA	0.562																																						uc001zhi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(9706-9708)TTG>CTG		ryanodine receptor 3							110.0	117.0	115.0					15																	34080535		2051	4192	6243	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34080535T>C		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9706T>C	15.37:g.34080535T>C						RYR3_uc010bar.2_Silent_p.L3236L	p.L3236L	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	67	9776	+		all_lung(180;7.18e-09)	3236					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.9706T>C	CCDS45210.1																																																																																				PASS	0.562	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			106	84	106	84	---	---	---	---
GJD2	57369	broad.mit.edu	37	15	35045257	35045257	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr15:35045257T>G	ENST00000290374.4	-	2	864	c.388A>C	c.(388-390)Act>Cct	p.T130P	RP11-814P5.1_ENST00000503496.1_RNA|RP11-814P5.1_ENST00000558707.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	130	Poly-Gly.				action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)	p.T130P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CCACCCCCAGTTCCTCCAGGA	0.562																																						uc001zis.1																			1	Substitution - Missense(1)		lung(1)		0						c.(388-390)ACT>CCT		gap junction protein, delta 2, 36kDa							84.0	92.0	89.0					15																	35045257		2201	4298	6499	SO:0001583	missense	57369				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr15:35045257T>G	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"""Ion channels / Gap junction proteins (connexins)"""	19154	protein-coding gene	gene with protein product	"""connexin 36"""	607058	"""gap junction protein, alpha 9, 36kDa"""	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.388A>C	15.37:g.35045257T>G	ENSP00000290374:p.Thr130Pro					uc001zit.1_5'Flank	p.T130P	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)	2	388	-		all_lung(180;9.67e-07)	130			Cytoplasmic (Potential).|Poly-Gly.		Q2M241|Q9P2R0	Missense_Mutation	SNP	ENST00000290374.4	37	c.388A>C	CCDS10040.1	.	.	.	.	.	.	.	.	.	.	T	8.652	0.898385	0.17686	.	.	ENSG00000159248	ENST00000290374	D	0.98135	-4.74	5.54	-1.34	0.09143	.	3.891080	0.00520	N	0.000198	D	0.91680	0.7370	N	0.08118	0	0.27498	N	0.952071	B	0.18166	0.026	B	0.18263	0.021	D	0.87089	0.2171	10	0.26408	T	0.33	.	2.3265	0.04224	0.227:0.0712:0.2337:0.4681	.	130	Q9UKL4	CXD2_HUMAN	P	130	ENSP00000290374:T130P	ENSP00000290374:T130P	T	-	1	0	GJD2	32832549	1.000000	0.71417	0.941000	0.38009	0.994000	0.84299	2.531000	0.45650	-0.116000	0.11893	0.528000	0.53228	ACT		PASS	0.562	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251875.2			7	263	7	263	---	---	---	---
DISP2	85455	broad.mit.edu	37	15	40661237	40661237	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr15:40661237C>A	ENST00000267889.3	+	8	3011	c.2924C>A	c.(2923-2925)gCc>gAc	p.A975D	RP11-64K12.4_ENST00000558421.1_RNA|LINC00594_ENST00000561261.1_lincRNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	975					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)		p.A975D(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TTGGCGCTGGCCTTTGCCACA	0.617																																						uc001zlk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2923-2925)GCC>GAC		dispatched B							82.0	71.0	75.0					15																	40661237		2203	4300	6503	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40661237C>A	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.2924C>A	15.37:g.40661237C>A	ENSP00000267889:p.Ala975Asp						p.A975D	NM_033510	NP_277045	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	8	3013	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	975			Helical; (Potential).		Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.2924C>A	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826010	0.71143	.	.	ENSG00000140323	ENST00000267889	D	0.92348	-3.02	5.09	4.13	0.48395	.	0.306169	0.35870	N	0.002931	D	0.90943	0.7153	L	0.59436	1.845	0.37830	D	0.928681	P	0.41848	0.763	B	0.42422	0.387	D	0.93345	0.6713	10	0.72032	D	0.01	-24.2816	15.1223	0.72453	0.0:0.7448:0.2552:0.0	.	975	A7MBM2	DISP2_HUMAN	D	975	ENSP00000267889:A975D	ENSP00000267889:A975D	A	+	2	0	DISP2	38448529	0.998000	0.40836	0.999000	0.59377	0.981000	0.71138	3.879000	0.56138	2.660000	0.90430	0.555000	0.69702	GCC		PASS	0.617	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		41	80	41	80	---	---	---	---
VPS18	57617	broad.mit.edu	37	15	41192573	41192573	+	Silent	SNP	C	C	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr15:41192573C>G	ENST00000220509.5	+	4	1896	c.1557C>G	c.(1555-1557)acC>acG	p.T519T	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	519					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)	p.T519T(1)		autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		ACCGAGAAACCAAGGAATGCT	0.622																																						uc001zne.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1555-1557)ACC>ACG		vacuolar protein sorting 18							81.0	88.0	85.0					15																	41192573		2203	4300	6503	SO:0001819	synonymous_variant	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41192573C>G	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.1557C>G	15.37:g.41192573C>G							p.T519T	NM_020857	NP_065908	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	1896	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	519					Q8TCG0|Q96DI3|Q9H268	Silent	SNP	ENST00000220509.5	37	c.1557C>G	CCDS10069.1																																																																																				PASS	0.622	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			22	205	22	205	---	---	---	---
EPB42	2038	broad.mit.edu	37	15	43502602	43502602	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr15:43502602C>A	ENST00000441366.2	-	5	810	c.585G>T	c.(583-585)ttG>ttT	p.L195F	EPB42_ENST00000540029.1_Missense_Mutation_p.L117F|EPB42_ENST00000300215.3_Missense_Mutation_p.L225F	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	195					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)	p.L225F(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CCTTGCTCAGCAAGCGCAGGC	0.602																																						uc001zra.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(583-585)TTG>TTT		erythrocyte membrane protein band 4.2 isoform 2							123.0	108.0	113.0					15																	43502602		2203	4299	6502	SO:0001583	missense	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43502602C>A	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.585G>T	15.37:g.43502602C>A	ENSP00000396616:p.Leu195Phe					EPB42_uc001zqz.3_5'Flank|EPB42_uc010bde.2_Missense_Mutation_p.L40F|EPB42_uc001zrb.3_Missense_Mutation_p.L225F|EPB42_uc010udm.1_Missense_Mutation_p.L117F	p.L195F	NM_001114134	NP_001107606	P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	5	885	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	195					Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.585G>T	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346061	0.41599	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	T;T;T	0.55413	0.52;0.52;0.52	5.64	-1.79	0.07932	.	0.080622	0.52532	D	0.000072	T	0.72700	0.3493	M	0.91038	3.17	0.27048	N	0.963847	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.991;0.995;0.991	T	0.67007	-0.5779	10	0.72032	D	0.01	-10.9263	10.6994	0.45918	0.0:0.5925:0.0:0.4075	.	117;195;225;195	F5H563;B7Z4C3;P16452-2;P16452	.;.;.;EPB42_HUMAN	F	225;117;195;195	ENSP00000300215:L225F;ENSP00000444699:L117F;ENSP00000396616:L195F	ENSP00000300215:L225F	L	-	3	2	EPB42	41289894	0.897000	0.30589	0.130000	0.21974	0.155000	0.21991	-0.118000	0.10692	-0.221000	0.09973	0.650000	0.86243	TTG		PASS	0.602	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		132	102	132	102	---	---	---	---
SPG11	80208	broad.mit.edu	37	15	44907619	44907619	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr15:44907619G>T	ENST00000261866.7	-	16	2996	c.2980C>A	c.(2980-2982)Ctc>Atc	p.L994I	SPG11_ENST00000427534.2_Missense_Mutation_p.L994I|SPG11_ENST00000558319.1_Missense_Mutation_p.L994I|SPG11_ENST00000535302.2_Missense_Mutation_p.L994I	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	994					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.L994I(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AAACAATAGAGAATGAATTGA	0.428																																						uc001ztx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(2980-2982)CTC>ATC		spatacsin isoform 1							139.0	123.0	128.0					15																	44907619		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44907619G>T		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.2980C>A	15.37:g.44907619G>T	ENSP00000261866:p.Leu994Ile					SPG11_uc010ueh.1_Missense_Mutation_p.L994I|SPG11_uc010uei.1_Missense_Mutation_p.L994I|SPG11_uc001ztz.1_Missense_Mutation_p.L153I	p.L994I	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	16	3011	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	994			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.2980C>A	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813994	0.32053	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.77877	-1.13;-0.87;-0.87	5.48	3.58	0.41010	.	0.370838	0.26907	N	0.021888	T	0.79082	0.4386	M	0.73598	2.24	0.80722	D	1	P;P;P;P	0.47841	0.767;0.804;0.901;0.767	B;B;P;B	0.47645	0.359;0.38;0.553;0.359	T	0.77913	-0.2410	10	0.35671	T	0.21	.	10.8252	0.46627	0.1528:0.0:0.8472:0.0	.	994;994;994;994	C4B7M2;F5H3N6;Q96JI7-2;Q96JI7	.;.;.;SPTCS_HUMAN	I	994	ENSP00000261866:L994I;ENSP00000445278:L994I;ENSP00000396110:L994I	ENSP00000261866:L994I	L	-	1	0	SPG11	42694911	1.000000	0.71417	0.998000	0.56505	0.603000	0.37013	1.813000	0.38962	1.311000	0.45024	0.591000	0.81541	CTC		PASS	0.428	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			6	32	6	32	---	---	---	---
MAN2C1	4123	broad.mit.edu	37	15	75649169	75649169	+	Silent	SNP	G	G	A	rs142107948		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr15:75649169G>A	ENST00000267978.5	-	22	2668	c.2622C>T	c.(2620-2622)ggC>ggT	p.G874G	MAN2C1_ENST00000563622.1_Silent_p.G775G|RP11-817O13.6_ENST00000563660.1_lincRNA|MAN2C1_ENST00000565683.1_Silent_p.G891G|MAN2C1_ENST00000569482.1_Silent_p.G874G	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	874					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.G874G(1)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GCACTGACGCGCCATACTTGC	0.607																																						uc002baf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2620-2622)GGC>GGT		mannosidase, alpha, class 2C, member 1							87.0	74.0	79.0					15																	75649169		2197	4294	6491	SO:0001819	synonymous_variant	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75649169G>A	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.2622C>T	15.37:g.75649169G>A						MAN2C1_uc002bag.2_Silent_p.G874G|MAN2C1_uc002bah.2_Silent_p.G891G|MAN2C1_uc010bkk.2_Silent_p.G775G	p.G874G	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN			22	2639	-			874					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Silent	SNP	ENST00000267978.5	37	c.2622C>T	CCDS32298.1																																																																																				PASS	0.607	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			7	99	7	99	---	---	---	---
KIAA1024	23251	broad.mit.edu	37	15	79755626	79755626	+	Missense_Mutation	SNP	C	C	T	rs199519106	byFrequency	TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr15:79755626C>T	ENST00000305428.3	+	3	2591	c.2516C>T	c.(2515-2517)gCg>gTg	p.A839V		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	839						integral component of membrane (GO:0016021)		p.A839V(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GCACGGAATGCGGGCGACAAG	0.612													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19484	0.0		0.0	False		,,,				2504	0.0					uc002bew.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|central_nervous_system(1)	4						c.(2515-2517)GCG>GTG		hypothetical protein LOC23251							91.0	84.0	86.0					15																	79755626		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79755626C>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2516C>T	15.37:g.79755626C>T	ENSP00000307461:p.Ala839Val					KIAA1024_uc010unk.1_Missense_Mutation_p.A839V	p.A839V	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			3	2591	+			839					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.2516C>T	CCDS32306.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	10.58	1.390530	0.25118	.	.	ENSG00000169330	ENST00000305428	T	0.43294	0.95	5.32	2.41	0.29592	.	0.891913	0.09666	N	0.771829	T	0.21881	0.0527	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.27191	-1.0081	9	.	.	.	.	8.61	0.33797	0.0:0.7354:0.126:0.1386	.	839	Q9UPX6	K1024_HUMAN	V	839	ENSP00000307461:A839V	.	A	+	2	0	KIAA1024	77542681	0.045000	0.20229	0.000000	0.03702	0.363000	0.29612	3.310000	0.51911	0.232000	0.21100	-0.140000	0.14226	GCG		PASS	0.612	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		4	118	4	118	---	---	---	---
PLIN1	5346	broad.mit.edu	37	15	90213363	90213363	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr15:90213363C>A	ENST00000300055.5	-	5	611	c.446G>T	c.(445-447)gGg>gTg	p.G149V	PLIN1_ENST00000430628.2_Missense_Mutation_p.G149V	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	149					lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)	lipid binding (GO:0008289)	p.G149V(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						AAGCTCGCACCCGGCCAAAGC	0.647																																						uc010upx.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(445-447)GGG>GTG		perilipin 1							32.0	34.0	33.0					15																	90213363		2200	4299	6499	SO:0001583	missense	5346				triglyceride catabolic process	lipid particle	lipid binding	g.chr15:90213363C>A	AB005293	CCDS10353.1	15q26	2009-08-12	2009-08-12	2009-08-12	ENSG00000166819	ENSG00000166819		"""Perilipins"""	9076	protein-coding gene	gene with protein product		170290	"""perilipin"""	PLIN		9521880, 19638644	Standard	NM_002666		Approved		uc010upx.1	O60240	OTTHUMG00000149813	ENST00000300055.5:c.446G>T	15.37:g.90213363C>A	ENSP00000300055:p.Gly149Val					PLIN1_uc002boh.2_Missense_Mutation_p.G149V	p.G149V	NM_001145311	NP_001138783	O60240	PLIN1_HUMAN			5	556	-			149					Q8N5Y6	Missense_Mutation	SNP	ENST00000300055.5	37	c.446G>T	CCDS10353.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.133788	0.56828	.	.	ENSG00000166819	ENST00000300055;ENST00000430628	T;T	0.09350	2.99;2.99	5.21	5.21	0.72293	.	0.887861	0.09806	N	0.753424	T	0.37517	0.1006	M	0.77103	2.36	0.80722	D	1	D	0.67145	0.996	D	0.68483	0.958	T	0.02307	-1.1179	10	0.52906	T	0.07	-18.9503	17.3071	0.87198	0.0:1.0:0.0:0.0	.	149	O60240	PLIN1_HUMAN	V	149	ENSP00000300055:G149V;ENSP00000402167:G149V	ENSP00000300055:G149V	G	-	2	0	PLIN1	88014367	0.998000	0.40836	0.975000	0.42487	0.276000	0.26787	5.079000	0.64431	2.439000	0.82584	0.305000	0.20034	GGG		PASS	0.647	PLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313424.2	NM_002666		28	19	28	19	---	---	---	---
FES	2242	broad.mit.edu	37	15	91428341	91428341	+	Silent	SNP	C	C	A	rs369727348	byFrequency	TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr15:91428341C>A	ENST00000328850.3	+	2	208	c.66C>A	c.(64-66)gcC>gcA	p.A22A	FES_ENST00000394300.3_Silent_p.A22A|FES_ENST00000450438.2_Silent_p.A22A|FES_ENST00000444422.2_Silent_p.A22A|FES_ENST00000414248.2_Silent_p.A22A|FES_ENST00000394302.1_Silent_p.A22A	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	22	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Important for interaction with membranes containing phosphoinositides.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)	p.A22A(1)		lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGCAGGAGGCCGAGCTTCGTC	0.602																																						uc002bpv.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(64-66)GCC>GCA		feline sarcoma oncogene isoform 1							111.0	120.0	117.0					15																	91428341		2198	4298	6496	SO:0001819	synonymous_variant	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91428341C>A	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.66C>A	15.37:g.91428341C>A						FES_uc010uqj.1_Silent_p.A22A|FES_uc010uqk.1_Silent_p.A22A|FES_uc002bpw.2_RNA|FES_uc010bny.2_Silent_p.A22A|FES_uc002bpx.2_Silent_p.A22A|FES_uc002bpy.2_Silent_p.A22A	p.A22A	NM_002005	NP_001996	P07332	FES_HUMAN	Lung(145;0.229)		2	162	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		22			FCH.|Important for interaction with membranes containing phosphoinositides.		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Silent	SNP	ENST00000328850.3	37	c.66C>A	CCDS10365.1																																																																																				PASS	0.602	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		157	149	157	149	---	---	---	---
SPATA8	145946	broad.mit.edu	37	15	97326900	97326900	+	Silent	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr15:97326900G>A	ENST00000328504.3	+	1	282	c.15G>A	c.(13-15)ggG>ggA	p.G5G	SPATA8_ENST00000558553.1_Intron|SPATA8-AS1_ENST00000560888.1_RNA|SPATA8-AS1_ENST00000558722.1_RNA	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	5								p.G5G(1)		large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			CCCCGGCTGGGATGTCAGGGG	0.567																																						uc002bue.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(13-15)GGG>GGA		spermatogenesis associated 8							80.0	77.0	78.0					15																	97326900		2197	4298	6495	SO:0001819	synonymous_variant	145946							g.chr15:97326900G>A	AY489187	CCDS10376.1	15q26	2008-02-05			ENSG00000185594	ENSG00000185594			28676	protein-coding gene	gene with protein product		613948					Standard	NM_173499		Approved	MGC44294	uc002bue.3	Q6RVD6	OTTHUMG00000149847	ENST00000328504.3:c.15G>A	15.37:g.97326900G>A						uc010uro.1_5'Flank|uc010urp.1_5'Flank|uc002bud.1_5'Flank	p.G5G	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0718)		1	225	+	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		5					Q2KJ07	Silent	SNP	ENST00000328504.3	37	c.15G>A	CCDS10376.1																																																																																				PASS	0.567	SPATA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313533.1	NM_173499		40	47	40	47	---	---	---	---
CLCN7	1186	broad.mit.edu	37	16	1510933	1510933	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr16:1510933T>C	ENST00000382745.4	-	5	973	c.368A>G	c.(367-369)gAg>gGg	p.E123G	CLCN7_ENST00000262318.8_Missense_Mutation_p.E99G|CLCN7_ENST00000448525.1_Missense_Mutation_p.E99G	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	123					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.E123G(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GCGCTTGATCTCCACCGTCCG	0.662																																						uc002clv.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(367-369)GAG>GGG		chloride channel 7 isoform a							60.0	55.0	57.0					16																	1510933		2199	4300	6499	SO:0001583	missense	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1510933T>C	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.368A>G	16.37:g.1510933T>C	ENSP00000372193:p.Glu123Gly					CLCN7_uc002clw.2_Missense_Mutation_p.E99G	p.E123G	NM_001287	NP_001278	P51798	CLCN7_HUMAN			5	478	-		Hepatocellular(780;0.0893)	123			Cytoplasmic (By similarity).		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	c.368A>G	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.385456	0.82792	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.82433	-1.61;-1.61	4.7	4.7	0.59300	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	T	0.79695	0.4490	L	0.49778	1.585	0.80722	D	1	B;D	0.53151	0.013;0.958	B;P	0.45138	0.022;0.471	T	0.77544	-0.2548	10	0.25751	T	0.34	-39.8232	12.9981	0.58660	0.0:0.0:0.0:1.0	.	99;123	E9PDB9;P51798	.;CLCN7_HUMAN	G	99;76;123;65	ENSP00000410907:E99G;ENSP00000372193:E123G	ENSP00000262318:E76G	E	-	2	0	CLCN7	1450934	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.929000	0.87595	1.751000	0.51876	0.482000	0.46254	GAG		PASS	0.662	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		10	110	10	110	---	---	---	---
GFER	2671	broad.mit.edu	37	16	2035935	2035935	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr16:2035935A>G	ENST00000248114.6	+	3	530	c.524A>G	c.(523-525)aAt>aGt	p.N175S	GFER_ENST00000569451.1_Silent_p.Q109Q|GFER_ENST00000567719.1_Missense_Mutation_p.N100S|AC005606.14_ENST00000564438.1_lincRNA	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	175	ERV/ALR sulfhydryl oxidase. {ECO:0000255|PROSITE-ProRule:PRU00654}.				cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|protein disulfide oxidoreductase activity (GO:0015035)|thiol oxidase activity (GO:0016972)	p.N175S(1)		endometrium(1)|large_intestine(1)|lung(3)	5					Flavin adenine dinucleotide(DB03147)	CACCTGCACAATGAAGTGAAC	0.592																																						uc002cob.2																			1	Substitution - Missense(1)		lung(1)		0						c.(523-525)AAT>AGT		erv1-like growth factor							94.0	91.0	92.0					16																	2035935		2198	4299	6497	SO:0001583	missense	2671				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity	g.chr16:2035935A>G	BC002429	CCDS32368.1	16p13.3-p13.12	2011-06-22	2008-08-01		ENSG00000127554	ENSG00000127554			4236	protein-coding gene	gene with protein product	"""ERV1 homolog (S. cerevisiae)"""	600924	"""growth factor, erv1 (S. cerevisiae)-like (augmenter of liver regeneration)"""			8575761	Standard	NM_005262		Approved	HSS, ERV1, ALR, HERV1, HPO1, HPO2	uc002cob.3	P55789		ENST00000248114.6:c.524A>G	16.37:g.2035935A>G	ENSP00000248114:p.Asn175Ser					GFER_uc002coc.2_Missense_Mutation_p.N100S	p.N175S	NM_005262	NP_005253	P55789	ALR_HUMAN			3	594	+			175			ERV/ALR sulfhydryl oxidase.		Q53YM6|Q8TAH6|Q9H290|Q9UK40	Missense_Mutation	SNP	ENST00000248114.6	37	c.524A>G	CCDS32368.1	.	.	.	.	.	.	.	.	.	.	a	20.5	4.006472	0.74932	.	.	ENSG00000127554	ENST00000248114	T	0.78707	-1.2	4.43	4.43	0.53597	Erv1/Alr (3);ERV/ALR sulphydryl oxidase (1);	0.000000	0.85682	D	0.000000	D	0.90310	0.6969	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92571	0.6066	10	0.87932	D	0	-22.5825	13.1409	0.59434	1.0:0.0:0.0:0.0	.	101;175	Q9UQK8;P55789	.;ALR_HUMAN	S	175	ENSP00000248114:N175S	ENSP00000248114:N175S	N	+	2	0	GFER	1975936	1.000000	0.71417	0.998000	0.56505	0.465000	0.32709	6.727000	0.74764	1.763000	0.52060	0.418000	0.28097	AAT		PASS	0.592	GFER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434243.1	NM_005262		186	148	186	148	---	---	---	---
FLYWCH1	84256	broad.mit.edu	37	16	2979987	2979987	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr16:2979987C>G	ENST00000253928.9	+	3	706	c.301C>G	c.(301-303)Cag>Gag	p.Q101E	FLYWCH1_ENST00000416288.2_Missense_Mutation_p.Q101E|FLYWCH1_ENST00000399667.2_Missense_Mutation_p.Q101E			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	101						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q101E(1)		kidney(1)|lung(3)	4						GATGCCTGAACAGAAGTGCAG	0.667																																						uc002csd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(301-303)CAG>GAG		FLYWCH-type zinc finger 1 isoform a							26.0	30.0	28.0					16																	2979987		2140	4243	6383	SO:0001583	missense	84256					nucleus	DNA binding|metal ion binding	g.chr16:2979987C>G	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.301C>G	16.37:g.2979987C>G	ENSP00000253928:p.Gln101Glu					FLYWCH1_uc002csb.2_Missense_Mutation_p.Q101E|FLYWCH1_uc002csc.2_Missense_Mutation_p.Q101E	p.Q101E	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN			3	664	+			101					D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	ENST00000253928.9	37	c.301C>G		.	.	.	.	.	.	.	.	.	.	C	9.396	1.076867	0.20227	.	.	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	2.95	1.96	0.26148	.	.	.	.	.	T	0.31295	0.0792	L	0.32530	0.975	0.09310	N	1	B;B	0.30236	0.03;0.274	B;B	0.33960	0.006;0.173	T	0.23762	-1.0179	8	0.39692	T	0.17	.	7.1194	0.25435	0.2675:0.7325:0.0:0.0	.	101;101	Q4VC44;Q4VC44-2	FWCH1_HUMAN;.	E	101	.	ENSP00000253928:Q101E	Q	+	1	0	FLYWCH1	2919988	0.008000	0.16893	0.001000	0.08648	0.071000	0.16799	1.495000	0.35627	0.772000	0.33382	0.462000	0.41574	CAG		PASS	0.667	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296		16	44	16	44	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3788651	3788651	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr16:3788651C>A	ENST00000262367.5	-	26	5112	c.4303G>T	c.(4303-4305)Gat>Tat	p.D1435Y	CREBBP_ENST00000382070.3_Missense_Mutation_p.D1397Y	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1435	Acetyl-CoA binding. {ECO:0000250|UniProtKB:Q09472}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.|Interaction with histone. {ECO:0000250|UniProtKB:Q09472}.				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.D1435Y(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)		TGAATACTATCCAGATAAGAA	0.433			"""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 - Missense(1)	p.D1435G(1)|p.D1435E(1)	lung(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(4303-4305)GAT>TAT		CREB binding protein isoform a							63.0	55.0	58.0					16																	3788651		2197	4300	6497	SO:0001583	missense	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.chr16:3788651C>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.4303G>T	16.37:g.3788651C>A	ENSP00000262367:p.Asp1435Tyr					CREBBP_uc002cvw.2_Missense_Mutation_p.D1397Y	p.D1435Y	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	26	4507	-		Ovarian(90;0.0266)	1435			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4303G>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.035514	0.75617	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.99436	-5.9;-5.9	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.99722	0.9892	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97386	0.9986	10	0.87932	D	0	-26.2761	19.2588	0.93959	0.0:1.0:0.0:0.0	.	1465;1435	Q4LE28;Q92793	.;CBP_HUMAN	Y	1435;1465;1397;24	ENSP00000262367:D1435Y;ENSP00000371502:D1397Y	ENSP00000262367:D1435Y	D	-	1	0	CREBBP	3728652	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.755000	0.85180	2.638000	0.89438	0.561000	0.74099	GAT		PASS	0.433	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		10	38	10	38	---	---	---	---
C16orf89	146556	broad.mit.edu	37	16	5108554	5108554	+	Silent	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr16:5108554C>T	ENST00000315997.5	-	4	768	c.567G>A	c.(565-567)aaG>aaA	p.K189K	C16orf89_ENST00000474471.3_Silent_p.K189K|C16orf89_ENST00000350219.4_Silent_p.K227K|C16orf89_ENST00000472572.3_Silent_p.K189K|C16orf89_ENST00000422873.1_Silent_p.K227K|ALG1_ENST00000588623.1_Intron	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	189						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)	p.K227K(2)|p.K189K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						AGCAGCCGGGCTTGGTCATGA	0.647																																						uc010bud.2																			3	Substitution - coding silent(3)		lung(3)	ovary(1)|skin(1)	2						c.(679-681)AAG>AAA		hypothetical protein LOC146556 isoform 1							41.0	50.0	47.0					16																	5108554		2012	4190	6202	SO:0001819	synonymous_variant	146556					extracellular region		g.chr16:5108554C>T		CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.567G>A	16.37:g.5108554C>T						ALG1_uc002cyj.2_Intron|C16orf89_uc002cyk.3_Silent_p.K227K	p.K227K	NM_152459	NP_689672	Q6UX73	CP089_HUMAN			4	769	-			189					B4DUM5|Q8N2I3|Q8N4T1	Silent	SNP	ENST00000315997.5	37	c.681G>A	CCDS42116.2																																																																																				PASS	0.647	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354524.1	NM_152459		20	144	20	144	---	---	---	---
RSL1D1	26156	broad.mit.edu	37	16	11933741	11933741	+	Silent	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr16:11933741A>G	ENST00000571133.1	-	8	1029	c.957T>C	c.(955-957)gaT>gaC	p.D319D	RSL1D1_ENST00000542106.1_Silent_p.D99D	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	319					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.D319D(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						GTGCCACATCATCTTTACTAA	0.428																																						uc002dbp.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(955-957)GAT>GAC		ribosomal L1 domain containing 1							187.0	165.0	173.0					16																	11933741		2197	4300	6497	SO:0001819	synonymous_variant	26156				regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr16:11933741A>G	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.957T>C	16.37:g.11933741A>G						RSL1D1_uc010buv.1_Silent_p.D318D|RSL1D1_uc010uyw.1_Silent_p.D99D|RSL1D1_uc010buw.2_RNA	p.D319D	NM_015659	NP_056474	O76021	RL1D1_HUMAN			8	1030	-			319					B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Silent	SNP	ENST00000571133.1	37	c.957T>C	CCDS10551.1																																																																																				PASS	0.428	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659		44	373	44	373	---	---	---	---
RBBP6	5930	broad.mit.edu	37	16	24581518	24581518	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr16:24581518A>T	ENST00000319715.4	+	17	3939	c.3507A>T	c.(3505-3507)aaA>aaT	p.K1169N	RBBP6_ENST00000348022.2_Missense_Mutation_p.K1135N|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1169					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K1169N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAATCTCGAAACTAGAAGTGA	0.328																																						uc002dmh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(3505-3507)AAA>AAT		retinoblastoma-binding protein 6 isoform 1							63.0	70.0	68.0					16																	24581518		2195	4299	6494	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24581518A>T		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.3507A>T	16.37:g.24581518A>T	ENSP00000317872:p.Lys1169Asn					RBBP6_uc010vcb.1_Missense_Mutation_p.K1036N|RBBP6_uc002dmi.2_Missense_Mutation_p.K1135N|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.K1002N	p.K1169N	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	17	4547	+			1169					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.3507A>T	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	A	18.63	3.666189	0.67814	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.27256	1.78;1.68	5.86	4.77	0.60923	.	0.000000	0.64402	D	0.000003	T	0.35828	0.0945	L	0.27053	0.805	0.44685	D	0.997674	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.06734	-1.0810	10	0.41790	T	0.15	-20.3052	11.7133	0.51637	0.931:0.0:0.069:0.0	.	1135;1169	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	N	1169;1135	ENSP00000317872:K1169N;ENSP00000316291:K1135N	ENSP00000317872:K1169N	K	+	3	2	RBBP6	24489019	0.998000	0.40836	0.968000	0.41197	0.964000	0.63967	3.239000	0.51360	1.033000	0.39918	0.533000	0.62120	AAA		PASS	0.328	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		26	35	26	35	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30715393	30715393	+	Silent	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr16:30715393G>A	ENST00000262518.4	+	4	448	c.63G>A	c.(61-63)tcG>tcA	p.S21S	SRCAP_ENST00000395059.2_Silent_p.S21S|RNU6-1043P_ENST00000410355.1_RNA|SRCAP_ENST00000344771.4_Silent_p.S21S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	21					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.S21S(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGATGGTGTCGGACGGCATGA	0.483																																						uc002dze.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(61-63)TCG>TCA		Snf2-related CBP activator protein							84.0	83.0	83.0					16																	30715393		1966	4151	6117	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30715393G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.63G>A	16.37:g.30715393G>A						SRCAP_uc002dzf.2_RNA	p.S21S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		4	448	+			21					B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.63G>A	CCDS10689.2																																																																																				PASS	0.483	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		71	98	71	98	---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31391846	31391846	+	Silent	SNP	A	A	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr16:31391846A>C	ENST00000268296.4	+	28	3298	c.3177A>C	c.(3175-3177)atA>atC	p.I1059I	ITGAX_ENST00000562522.1_Silent_p.I1059I	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1059					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.I1059I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTTTGCAGATATTGCAGAAGA	0.562																																						uc002ebu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(3175-3177)ATA>ATC		integrin alpha X precursor							87.0	82.0	83.0					16																	31391846		2197	4300	6497	SO:0001819	synonymous_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31391846A>C	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.3177A>C	16.37:g.31391846A>C						ITGAX_uc002ebt.2_Silent_p.I1059I	p.I1059I	NM_000887	NP_000878	P20702	ITAX_HUMAN			28	3244	+			1059			Extracellular (Potential).		Q8IVA6	Silent	SNP	ENST00000268296.4	37	c.3177A>C	CCDS10711.1																																																																																				PASS	0.562	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		5	83	5	83	---	---	---	---
MYLK3	91807	broad.mit.edu	37	16	46781653	46781653	+	Silent	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr16:46781653G>A	ENST00000394809.4	-	1	568	c.453C>T	c.(451-453)ggC>ggT	p.G151G	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	151					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.G151G(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CACCTGGGCTGCCTCTCCTCC	0.657																																						uc002eei.3																			2	Substitution - coding silent(2)		lung(2)	stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7						c.(451-453)GGC>GGT		myosin light chain kinase 3							63.0	68.0	66.0					16																	46781653		2203	4300	6503	SO:0001819	synonymous_variant	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46781653G>A	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.453C>T	16.37:g.46781653G>A						MYLK3_uc010vge.1_Intron	p.G151G	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN			1	569	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	151					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Silent	SNP	ENST00000394809.4	37	c.453C>T	CCDS10723.2																																																																																				PASS	0.657	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		100	21	100	21	---	---	---	---
SLC38A7	55238	broad.mit.edu	37	16	58706125	58706125	+	Silent	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr16:58706125A>G	ENST00000570101.1	-	8	1789	c.906T>C	c.(904-906)ttT>ttC	p.F302F	SLC38A7_ENST00000566953.1_5'UTR|SLC38A7_ENST00000564010.1_Silent_p.F213F|SLC38A7_ENST00000564100.1_Intron|SLC38A7_ENST00000219320.4_Silent_p.F302F			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	302					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)	p.F302F(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						CAGCAGCTCCAAAGGTCAGGA	0.617																																						uc002eod.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(904-906)TTT>TTC		solute carrier family 38, member 7							38.0	33.0	35.0					16																	58706125		2188	4292	6480	SO:0001819	synonymous_variant	55238				amino acid transport|sodium ion transport	integral to membrane		g.chr16:58706125A>G	BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"""Solute carriers"""	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.906T>C	16.37:g.58706125A>G						SLC38A7_uc002eob.1_RNA|SLC38A7_uc002eoc.1_Intron|SLC38A7_uc010vil.1_Silent_p.F213F|SLC38A7_uc002eoe.1_Silent_p.F302F	p.F302F	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN			9	1299	-			302			Helical; (Potential).		Q53GJ9|Q9H9I5	Silent	SNP	ENST00000570101.1	37	c.906T>C	CCDS10800.1																																																																																				PASS	0.617	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	NM_018231		6	0	6	0	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72829353	72829353	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr16:72829353T>A	ENST00000268489.5	-	9	7900	c.7228A>T	c.(7228-7230)Aca>Tca	p.T2410S	ZFHX3_ENST00000397992.5_Missense_Mutation_p.T1496S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2410					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.T2410A(1)|p.T2410S(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCCTCCGCTGTAAGCTGCAAG	0.557																																						uc002fck.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(7228-7230)ACA>TCA		zinc finger homeobox 3 isoform A							79.0	75.0	77.0					16																	72829353		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72829353T>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7228A>T	16.37:g.72829353T>A	ENSP00000268489:p.Thr2410Ser					ZFHX3_uc002fcl.2_Missense_Mutation_p.T1496S	p.T2410S	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			9	7901	-		Ovarian(137;0.13)	2410					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.7228A>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	3.974	-0.007873	0.07773	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.72942	-0.7;-0.68	5.45	3.12	0.35913	.	0.123055	0.36134	N	0.002766	T	0.46541	0.1398	N	0.14661	0.345	0.31989	N	0.60485	B	0.02656	0.0	B	0.01281	0.0	T	0.41822	-0.9487	10	0.07813	T	0.8	.	8.6546	0.34055	0.1284:0.0:0.1348:0.7368	.	2410	Q15911	ZFHX3_HUMAN	S	2410;1496	ENSP00000268489:T2410S;ENSP00000438926:T1496S	ENSP00000268489:T2410S	T	-	1	0	ZFHX3	71386854	0.975000	0.34042	0.032000	0.17829	0.493000	0.33554	0.797000	0.26999	0.325000	0.23359	0.459000	0.35465	ACA		PASS	0.557	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		4	103	4	103	---	---	---	---
HCCAT5	283902	broad.mit.edu	37	16	73126856	73126856	+	lincRNA	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr16:73126856C>A	ENST00000569990.2	+	0	609					NR_027756.1				hepatocellular carcinoma associated transcript 5 (non-protein coding)																		TGTATCCCTTCGTTTATGCTC	0.488																																						uc010vmq.1																			0					0								Homo sapiens cDNA clone IMAGE:4544545, partial cds.							173.0	171.0	172.0					16																	73126856		1959	4153	6112			283902							g.chr16:73126856C>A			16q22.3	2014-06-20			ENSG00000260880	ENSG00000260880		"""Long non-coding RNAs"""	48612	non-coding RNA	RNA, long non-coding	"""hepatoma associated gene"""	615613				20130911, 23314567	Standard	NR_027756		Approved	HTA, FJ222407			OTTHUMG00000172964		16.37:g.73126856C>A								NR_027756						1		+									RNA	SNP	ENST00000569990.2	37	c.609C>A																																																																																					PASS	0.488	HCCAT5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000440524.1	NR_027756		52	11	52	11	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:7578394T>A	ENST00000269305.4	-	5	725	c.536A>T	c.(535-537)cAt>cTt	p.H179L	TP53_ENST00000455263.2_Missense_Mutation_p.H179L|TP53_ENST00000359597.4_Missense_Mutation_p.H179L|TP53_ENST00000420246.2_Missense_Mutation_p.H179L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179L|TP53_ENST00000445888.2_Missense_Mutation_p.H179L	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		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		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(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.(535-537)CAT>CTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							47.0	47.0	47.0					17																	7578394		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.chr17:7578394T>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.536A>T	17.37:g.7578394T>A	ENSP00000269305:p.His179Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.H179L|TP53_uc002gih.2_Missense_Mutation_p.H179L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47L|TP53_uc010cng.1_Missense_Mutation_p.H47L|TP53_uc002gii.1_Missense_Mutation_p.H47L|TP53_uc010cnh.1_Missense_Mutation_p.H179L|TP53_uc010cni.1_Missense_Mutation_p.H179L|TP53_uc002gij.2_Missense_Mutation_p.H179L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86L|TP53_uc002gio.2_Missense_Mutation_p.H47L|TP53_uc010vug.1_Missense_Mutation_p.H140L	p.H179L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	730	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	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.536A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	19.27	3.794677	0.70452	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99910	-7.88;-7.88;-7.88;-7.88;-7.88;-7.88;-7.88;-7.88	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	B;P;B;D;B;P;B	0.89917	0.081;0.679;0.133;1.0;0.333;0.536;0.224	B;P;B;D;P;B;B	0.97110	0.095;0.686;0.119;1.0;0.46;0.397;0.107	D	0.95915	0.8926	10	0.72032	D	0.01	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179L;ENSP00000352610:H179L;ENSP00000269305:H179L;ENSP00000398846:H179L;ENSP00000391127:H179L;ENSP00000391478:H179L;ENSP00000425104:H47L;ENSP00000423862:H86L	ENSP00000269305:H179L	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		PASS	0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		77	13	77	13	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11806058	11806058	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:11806058T>C	ENST00000262442.4	+	60	11497	c.11429T>C	c.(11428-11430)tTc>tCc	p.F3810S	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.F3810S|DNAH9_ENST00000608377.1_Missense_Mutation_p.F122S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3810					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.F3810S(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)		ATGGAAGAATTCTCTAATCTG	0.458																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(11428-11430)TTC>TCC		dynein, axonemal, heavy chain 9 isoform 2							74.0	82.0	80.0					17																	11806058		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.chr17:11806058T>C	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.11429T>C	17.37:g.11806058T>C	ENSP00000262442:p.Phe3810Ser					DNAH9_uc010coo.2_Missense_Mutation_p.F3104S|DNAH9_uc002gnf.2_Missense_Mutation_p.F122S|DNAH9_uc010vvh.1_Missense_Mutation_p.F163S	p.F3810S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	60	11497	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3810					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.11429T>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.298821	0.81025	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001;ENST00000361801	T;T;T	0.13307	2.6;2.6;2.6	4.83	4.83	0.62350	Dynein heavy chain (1);	2.008130	0.01923	N	0.040697	T	0.59824	0.2222	H	0.97465	4.01	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.72075	0.976;0.941	T	0.46952	-0.9154	10	0.72032	D	0.01	.	14.585	0.68317	0.0:0.0:0.0:1.0	.	163;3810	B7Z7H0;Q9NYC9	.;DYH9_HUMAN	S	3810;3810;2392;122;163	ENSP00000262442:F3810S;ENSP00000414874:F3810S;ENSP00000379323:F122S	ENSP00000262442:F3810S	F	+	2	0	DNAH9	11746783	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	7.825000	0.86693	2.021000	0.59480	0.459000	0.35465	TTC		PASS	0.458	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		145	11	145	11	---	---	---	---
LRRC48	83450	broad.mit.edu	37	17	17910403	17910403	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:17910403C>T	ENST00000399187.1	+	12	1486	c.1268C>T	c.(1267-1269)aCc>aTc	p.T423I	LRRC48_ENST00000411504.2_Missense_Mutation_p.T423I|LRRC48_ENST00000399182.1_Missense_Mutation_p.T423I|LRRC48_ENST00000313838.8_Missense_Mutation_p.T423I|LRRC48_ENST00000584166.1_Missense_Mutation_p.T423I	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	423						cytoplasm (GO:0005737)		p.T423I(2)		breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TCTATCAGCACCCTGGAGAAG	0.637																																						uc010vxd.1																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(1267-1269)ACC>ATC		leucine rich repeat containing 48 isoform a							32.0	36.0	34.0					17																	17910403		1999	4161	6160	SO:0001583	missense	83450					cytoplasm		g.chr17:17910403C>T	AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.1268C>T	17.37:g.17910403C>T	ENSP00000382140:p.Thr423Ile					LRRC48_uc002gsa.2_Missense_Mutation_p.T423I|LRRC48_uc010vxc.1_Missense_Mutation_p.T423I|LRRC48_uc002gsb.2_Missense_Mutation_p.T423I	p.T423I	NM_001130090	NP_001123562	Q9H069	LRC48_HUMAN			13	1647	+	all_neural(463;0.228)		423					A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	ENST00000399187.1	37	c.1268C>T	CCDS45622.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.321941	0.23994	.	.	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.34	4.37	0.52481	.	0.210963	0.49305	N	0.000144	T	0.42404	0.1201	M	0.63843	1.955	0.80722	D	1	B;B	0.20261	0.043;0.033	B;B	0.22601	0.04;0.022	T	0.25433	-1.0132	10	0.21014	T	0.42	-27.3228	9.424	0.38567	0.0:0.8334:0.0:0.1666	.	423;423	Q9H069;Q9H069-2	LRC48_HUMAN;.	I	423	ENSP00000326870:T423I;ENSP00000394020:T423I;ENSP00000382140:T423I;ENSP00000382136:T423I	ENSP00000326870:T423I	T	+	2	0	LRRC48	17851128	0.973000	0.33851	0.997000	0.53966	0.854000	0.48673	2.381000	0.44336	1.254000	0.44035	0.555000	0.69702	ACC		PASS	0.637	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131945.3	NM_031294		31	3	31	3	---	---	---	---
SPAG5	10615	broad.mit.edu	37	17	26911459	26911459	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:26911459C>T	ENST00000321765.5	-	12	2533	c.2201G>A	c.(2200-2202)aGc>aAc	p.S734N		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	734	Gln-rich.|Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)		p.S734N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TTTTAGCTGGCTGTCCATGTT	0.507																																						uc002hbq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2200-2202)AGC>AAC		sperm associated antigen 5							184.0	172.0	176.0					17																	26911459		2203	4300	6503	SO:0001583	missense	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26911459C>T	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.2201G>A	17.37:g.26911459C>T	ENSP00000323300:p.Ser734Asn					SGK494_uc010waq.1_Intron	p.S734N	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN			12	2293	-	Lung NSC(42;0.00431)		734			Gln-rich.		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	c.2201G>A	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	C	8.678	0.904404	0.17760	.	.	ENSG00000076382	ENST00000321765;ENST00000536674	.	.	.	6.02	2.91	0.33838	.	0.426278	0.25164	N	0.032655	T	0.26955	0.0660	N	0.19112	0.55	0.20638	N	0.999875	B	0.06786	0.001	B	0.06405	0.002	T	0.14200	-1.0481	9	0.33141	T	0.24	-0.0631	11.26	0.49078	0.0:0.7793:0.0:0.2207	.	734	Q96R06	SPAG5_HUMAN	N	734;231	.	ENSP00000323300:S734N	S	-	2	0	SPAG5	23935586	0.095000	0.21747	0.990000	0.47175	0.689000	0.40095	-0.045000	0.12003	0.136000	0.18733	-0.813000	0.03139	AGC		PASS	0.507	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		142	30	142	30	---	---	---	---
SRCIN1	80725	broad.mit.edu	37	17	36704853	36704853	+	Silent	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:36704853G>A	ENST00000264659.7	-	17	3434	c.3210C>T	c.(3208-3210)ccC>ccT	p.P1070P	SRCIN1_ENST00000578925.1_Silent_p.P1104P|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	942					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)	p.P1070P(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						AGGCCATGATGGGTGGTGTGG	0.647																																						uc002hqd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(3208-3210)CCC>CCT		SNAP25-interacting protein							73.0	77.0	76.0					17																	36704853		2106	4207	6313	SO:0001819	synonymous_variant	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36704853G>A		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.3210C>T	17.37:g.36704853G>A						SRCIN1_uc002hqf.1_Silent_p.P942P|SRCIN1_uc002hqe.2_Silent_p.P924P	p.P1070P	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN			17	3435	-			942					Q75T46|Q8N4W8	Silent	SNP	ENST00000264659.7	37	c.3210C>T	CCDS45660.1																																																																																				PASS	0.647	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		57	10	57	10	---	---	---	---
SPPL2C	162540	broad.mit.edu	37	17	43922324	43922324	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:43922324A>T	ENST00000329196.5	+	1	69	c.52A>T	c.(52-54)Acc>Tcc	p.T18S	MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	18						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)	p.T18S(1)									CCTCATCAGCACCGTGGCCGG	0.617																																						uc010wka.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)	2						c.(52-54)ACC>TCC		intramembrane protease 5 precursor							89.0	77.0	81.0					17																	43922324		2203	4300	6503	SO:0001583	missense	162540					integral to membrane	aspartic-type endopeptidase activity	g.chr17:43922324A>T		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.52A>T	17.37:g.43922324A>T	ENSP00000332488:p.Thr18Ser					LOC100128977_uc010wjz.1_Intron	p.T18S	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	1	52	+	Colorectal(2;0.0416)		18					Q8TC67|Q8WVZ6	Missense_Mutation	SNP	ENST00000329196.5	37	c.52A>T	CCDS32673.1	.	.	.	.	.	.	.	.	.	.	A	1.024	-0.684048	0.03353	.	.	ENSG00000185294	ENST00000329196	T	0.04809	3.55	4.23	0.428	0.16499	.	0.714488	0.12015	N	0.507489	T	0.03783	0.0107	L	0.53249	1.67	0.09310	N	1	B	0.30068	0.267	B	0.22386	0.039	T	0.45659	-0.9246	10	0.08837	T	0.75	-7.6967	3.4009	0.07323	0.5098:0.2209:0.2692:0.0	.	18	Q8IUH8	IMP5_HUMAN	S	18	ENSP00000332488:T18S	ENSP00000332488:T18S	T	+	1	0	AC217771.1	41278104	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.870000	0.04228	-0.116000	0.11893	0.454000	0.30748	ACC		PASS	0.617	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		37	45	37	45	---	---	---	---
HOXB1	3211	broad.mit.edu	37	17	46607946	46607946	+	Missense_Mutation	SNP	G	G	C	rs368493778		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:46607946G>C	ENST00000239174.6	-	1	413	c.321C>G	c.(319-321)gaC>gaG	p.D107E	HOXB1_ENST00000577092.1_Missense_Mutation_p.D107E	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	107					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)	p.D107E(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AATAGCCTCCGTCTCCTTCTG	0.657																																						uc002ink.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(319-321)GAC>GAG		homeobox B1							65.0	67.0	66.0					17																	46607946		2203	4299	6502	SO:0001583	missense	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46607946G>C		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.321C>G	17.37:g.46607946G>C	ENSP00000355140:p.Asp107Glu						p.D107E	NM_002144	NP_002135	P14653	HXB1_HUMAN			1	327	-			107					Q4VB03	Missense_Mutation	SNP	ENST00000239174.6	37	c.321C>G	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	G	6.406	0.442977	0.12164	.	.	ENSG00000120094	ENST00000239174	D	0.88586	-2.4	4.37	-8.75	0.00834	.	0.310531	0.23028	N	0.052766	T	0.72366	0.3451	N	0.25201	0.72	0.24679	N	0.993372	B	0.16396	0.017	B	0.12837	0.008	T	0.54603	-0.8269	10	0.31617	T	0.26	.	5.4379	0.16492	0.19:0.1586:0.4825:0.1689	.	107	P14653	HXB1_HUMAN	E	107	ENSP00000355140:D107E	ENSP00000355140:D107E	D	-	3	2	HOXB1	43962945	0.000000	0.05858	0.135000	0.22099	0.479000	0.33129	-1.819000	0.01716	-3.117000	0.00240	-2.014000	0.00435	GAC		PASS	0.657	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			76	172	76	172	---	---	---	---
OR4D2	124538	broad.mit.edu	37	17	56247896	56247896	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:56247896A>T	ENST00000545221.1	+	1	880	c.880A>T	c.(880-882)Atg>Ttg	p.M294L		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M294L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GAACCAGGACATGCAGGCAGC	0.512																																						uc010wnp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(880-882)ATG>TTG		olfactory receptor, family 4, subfamily D,							105.0	105.0	105.0					17																	56247896		2203	4300	6503	SO:0001583	missense	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247896A>T		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.880A>T	17.37:g.56247896A>T	ENSP00000441354:p.Met294Leu						p.M294L	NM_001004707	NP_001004707	P58180	OR4D2_HUMAN			1	880	+			294			Cytoplasmic (Potential).		Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	c.880A>T	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181243	0.38511	.	.	ENSG00000255713	ENST00000545221	T	0.35048	1.33	5.65	2.15	0.27550	.	0.086182	0.50627	D	0.000120	T	0.30479	0.0766	L	0.50847	1.595	0.28812	N	0.898204	B	0.20164	0.042	B	0.25405	0.06	T	0.27839	-1.0062	10	0.66056	D	0.02	-26.037	7.1669	0.25695	0.6373:0.0:0.3627:0.0	.	294	P58180	OR4D2_HUMAN	L	294	ENSP00000441354:M294L	ENSP00000441354:M294L	M	+	1	0	OR4D2	53602895	0.191000	0.23288	1.000000	0.80357	0.736000	0.42039	0.072000	0.14617	0.486000	0.27676	0.496000	0.49642	ATG		PASS	0.512	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			77	161	77	161	---	---	---	---
LPO	4025	broad.mit.edu	37	17	56344882	56344882	+	Silent	SNP	T	T	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:56344882T>C	ENST00000262290.4	+	12	2182	c.1866T>C	c.(1864-1866)ggT>ggC	p.G622G	LPO_ENST00000582328.1_Silent_p.G539G|LPO_ENST00000421678.2_Silent_p.G539G|LPO_ENST00000543544.1_Silent_p.G563G	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	622					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)	p.G622G(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGGAAAGGGGTCGGGTGGGGC	0.612																																						uc002ivt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1864-1866)GGT>GGC		lactoperoxidase isoform 1 preproprotein							51.0	54.0	53.0					17																	56344882		2203	4300	6503	SO:0001819	synonymous_variant	4025				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56344882T>C	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1866T>C	17.37:g.56344882T>C						LPO_uc010wns.1_Silent_p.G563G|LPO_uc010dcp.2_Silent_p.G539G|LPO_uc010dcq.2_Silent_p.G293G|LPO_uc010dcr.2_Silent_p.G185G	p.G622G	NM_006151	NP_006142	P22079	PERL_HUMAN			12	2182	+			622					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	ENST00000262290.4	37	c.1866T>C	CCDS32689.1																																																																																				PASS	0.612	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			25	70	25	70	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62025314	62025314	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:62025314A>G	ENST00000435607.1	-	17	3330	c.3254T>C	c.(3253-3255)gTg>gCg	p.V1085A	SCN4A_ENST00000578147.1_Missense_Mutation_p.V1085A	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1085					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.V1085A(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCCGTAGGCCACCCATTTGAG	0.542																																						uc002jds.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(3253-3255)GTG>GCG		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						89.0	94.0	93.0					17																	62025314		2189	4298	6487	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62025314A>G	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3254T>C	17.37:g.62025314A>G	ENSP00000396320:p.Val1085Ala						p.V1085A	NM_000334	NP_000325	P35499	SCN4A_HUMAN			17	3331	-			1085			III.|Helical; Name=S2 of repeat III; (Potential).		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.3254T>C	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.729491	0.89390	.	.	ENSG00000007314	ENST00000435607	D	0.98633	-5.04	4.47	4.47	0.54385	Ion transport (1);	0.121040	0.56097	D	0.000027	D	0.97838	0.9290	M	0.78801	2.425	0.47009	D	0.99928	P	0.40000	0.698	B	0.43990	0.438	D	0.97791	1.0238	10	0.87932	D	0	.	8.1372	0.31061	0.9094:0.0:0.0906:0.0	.	1085	P35499	SCN4A_HUMAN	A	1085	ENSP00000396320:V1085A	ENSP00000396320:V1085A	V	-	2	0	SCN4A	59379046	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.094000	0.64523	2.024000	0.59613	0.379000	0.24179	GTG		PASS	0.542	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		35	60	35	60	---	---	---	---
H3F3B	3021	broad.mit.edu	37	17	73774729	73774729	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:73774729T>C	ENST00000254810.4	-	4	490	c.358A>G	c.(358-360)Atc>Gtc	p.I120V	H3F3B_ENST00000591890.1_3'UTR|H3F3B_ENST00000589599.1_Missense_Mutation_p.I120V|H3F3B_ENST00000593254.1_5'UTR|H3F3B_ENST00000592643.1_Silent_p.P95P|H3F3B_ENST00000587560.1_Missense_Mutation_p.I120V|H3F3B_ENST00000586607.1_Missense_Mutation_p.I120V	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	120					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)	p.I120V(1)		large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGGGCATGATGGTGACTCTC	0.498																																						uc002jpl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(358-360)ATC>GTC		H3 histone, family 3B							123.0	119.0	120.0					17																	73774729		2203	4300	6503	SO:0001583	missense	3021				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding	g.chr17:73774729T>C	Z48950	CCDS11729.1	17q25.1	2011-06-01			ENSG00000132475	ENSG00000132475		"""Histones / Replication-independent"""	4765	protein-coding gene	gene with protein product		601058				8586426	Standard	NM_005324		Approved	H3.3B	uc002jpl.3	P84243		ENST00000254810.4:c.358A>G	17.37:g.73774729T>C	ENSP00000254810:p.Ile120Val						p.I120V	NM_005324	NP_005315	P84243	H33_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		4	491	-	all_cancers(13;1.5e-07)		120					P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	ENST00000254810.4	37	c.358A>G	CCDS11729.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.056208	0.36277	.	.	ENSG00000132475	ENST00000254810	T	0.73897	-0.79	5.31	5.31	0.75309	.	0.000000	0.64402	U	0.000019	D	0.84165	0.5412	M	0.78801	2.425	0.47949	D	0.999557	.	.	.	.	.	.	D	0.86332	0.1699	8	0.72032	D	0.01	.	15.4326	0.75112	0.0:0.0:0.0:1.0	.	.	.	.	V	120	ENSP00000254810:I120V	ENSP00000254810:I120V	I	-	1	0	H3F3B	71286324	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.701000	0.84566	2.234000	0.73211	0.459000	0.35465	ATC		PASS	0.498	H3F3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448499.1	NM_005324		93	180	93	180	---	---	---	---
EXOC7	23265	broad.mit.edu	37	17	74094068	74094068	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:74094068A>T	ENST00000335146.7	-	5	502	c.449T>A	c.(448-450)cTg>cAg	p.L150Q	EXOC7_ENST00000467929.2_Missense_Mutation_p.L109Q|EXOC7_ENST00000589210.1_Missense_Mutation_p.L150Q|EXOC7_ENST00000411744.2_Missense_Mutation_p.L150Q|EXOC7_ENST00000607838.1_Missense_Mutation_p.L150Q|EXOC7_ENST00000332065.5_Missense_Mutation_p.L150Q|EXOC7_ENST00000405575.4_Missense_Mutation_p.L150Q			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	150					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)		p.L150Q(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TTCGGACTCCAGGGCCTCCTT	0.587																																						uc002jqs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(448-450)CTG>CAG		exocyst complex component 7 isoform 4							87.0	79.0	82.0					17																	74094068		2203	4300	6503	SO:0001583	missense	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74094068A>T	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.449T>A	17.37:g.74094068A>T	ENSP00000334100:p.Leu150Gln					EXOC7_uc010dgv.1_Missense_Mutation_p.L97Q|EXOC7_uc002jqq.2_Missense_Mutation_p.L150Q|EXOC7_uc010wsw.1_Missense_Mutation_p.L150Q|EXOC7_uc010wsx.1_Missense_Mutation_p.L150Q|EXOC7_uc002jqr.2_Missense_Mutation_p.L150Q|EXOC7_uc010wsv.1_Missense_Mutation_p.L109Q|EXOC7_uc002jqu.2_Missense_Mutation_p.L150Q	p.L150Q	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		5	544	-			150					B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	ENST00000335146.7	37	c.449T>A	CCDS45782.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.329735	0.60743	.	.	ENSG00000182473	ENST00000332065;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744;ENST00000405068;ENST00000420116;ENST00000442951	.	.	.	5.09	5.09	0.68999	Cullin repeat-like-containing domain (1);	0.000000	0.64402	D	0.000004	T	0.78698	0.4324	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.997;0.994;0.97;0.987;0.999;0.993;1.0;0.994	T	0.81733	-0.0798	9	0.87932	D	0	-11.8574	13.6111	0.62078	1.0:0.0:0.0:0.0	.	150;150;109;109;150;150;150;150	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5-4;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;.;EXOC7_HUMAN;.;.	Q	150;150;150;150;109;150;150;35;97	.	ENSP00000333806:L150Q	L	-	2	0	EXOC7	71605663	1.000000	0.71417	0.985000	0.45067	0.036000	0.12997	8.680000	0.91225	2.146000	0.66826	0.460000	0.39030	CTG		PASS	0.587	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219		65	74	65	74	---	---	---	---
QRICH2	84074	broad.mit.edu	37	17	74276381	74276381	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:74276381T>G	ENST00000262765.5	-	11	4294	c.4115A>C	c.(4114-4116)gAg>gCg	p.E1372A		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1372								p.E1372A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GTTGTCCATCTCTGTGAGCAG	0.637																																						uc002jrd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(4114-4116)GAG>GCG		glutamine rich 2							137.0	109.0	119.0					17																	74276381		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74276381T>G	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.4115A>C	17.37:g.74276381T>G	ENSP00000262765:p.Glu1372Ala					QRICH2_uc010wsz.1_Missense_Mutation_p.E1298A|QRICH2_uc010dgw.1_Missense_Mutation_p.E216A	p.E1372A	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN			11	4295	-			1372					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.4115A>C	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.620208	0.28801	.	.	ENSG00000129646	ENST00000262765;ENST00000447564;ENST00000301613	T;T	0.57595	2.75;0.39	4.97	3.87	0.44632	.	.	.	.	.	T	0.52041	0.1710	M	0.79475	2.455	0.33399	D	0.577165	P;B	0.35155	0.487;0.208	B;B	0.30943	0.122;0.038	T	0.66069	-0.6015	9	0.72032	D	0.01	-19.7324	11.5127	0.50502	0.0:0.0:0.1505:0.8495	.	1372;1372	B5MD94;Q9H0J4	.;QRIC2_HUMAN	A	1372;380;1372	ENSP00000262765:E1372A;ENSP00000394461:E380A	ENSP00000262765:E1372A	E	-	2	0	QRICH2	71787976	1.000000	0.71417	0.722000	0.30670	0.067000	0.16453	3.181000	0.50903	0.890000	0.36211	0.482000	0.46254	GAG		PASS	0.637	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		53	246	53	246	---	---	---	---
MFSD11	79157	broad.mit.edu	37	17	74732560	74732560	+	5'UTR	SNP	G	G	C	rs545669570		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:74732560G>C	ENST00000588460.1	+	0	168				MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000591864.1_5'Flank|MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000355954.3_5'Flank|MIR636_ENST00000384825.1_RNA|RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000359995.5_Intron|SRSF2_ENST00000508921.3_Intron|SRSF2_ENST00000392485.2_Intron|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000593181.1_5'Flank	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CGGGCGGGACGAGCAAGCACA	0.716													G|||	1	0.000199681	0.0	0.0	5008	,	,		9863	0.0		0.0	False		,,,				2504	0.001					hsa-mir-636|MI0003651																			0					0															22.0	25.0	24.0					17																	74732560		2193	4294	6487	SO:0001623	5_prime_UTR_variant	693221							g.chr17:74732560G>C	BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.-1875G>C	17.37:g.74732560G>C						SFRS2_uc002jsv.2_Intron|SFRS2_uc002jsw.1_5'Flank|SFRS2_uc002jsx.1_Intron|SFRS2_uc002jsy.3_Intron|SFRS2_uc010wtg.1_Intron|MFSD11_uc002jsz.1_RNA|MFSD11_uc002jta.2_5'UTR|MFSD11_uc002jtb.2_5'Flank|MFSD11_uc010dha.2_5'Flank|MFSD11_uc002jtc.2_5'Flank|MFSD11_uc002jtd.3_5'Flank|MFSD11_uc010dhb.2_5'Flank|MFSD11_uc002jte.2_5'Flank										-								O43442|Q9NXI5	RNA	SNP	ENST00000588460.1	37	c.71G>C	CCDS11750.1																																																																																				PASS	0.716	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1	NM_024311		19	104	19	104	---	---	---	---
CCDC40	55036	broad.mit.edu	37	17	78023868	78023868	+	Silent	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:78023868G>T	ENST00000397545.4	+	7	972	c.945G>T	c.(943-945)gtG>gtT	p.V315V	CCDC40_ENST00000374877.3_Silent_p.V315V|CCDC40_ENST00000269318.5_Silent_p.V315V|CCDC40_ENST00000374876.4_Silent_p.V315V	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	315					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.V315V(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCCAGGTTGTGGCTACCAAGC	0.597																																						uc010dht.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(943-945)GTG>GTT		coiled-coil domain containing 40							39.0	43.0	42.0					17																	78023868		2042	4196	6238	SO:0001819	synonymous_variant	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78023868G>T	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.945G>T	17.37:g.78023868G>T						CCDC40_uc010wub.1_Silent_p.V315V|CCDC40_uc002jxm.3_Silent_p.V98V	p.V315V	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		7	972	+	all_neural(118;0.167)		315			Potential.		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	ENST00000397545.4	37	c.945G>T	CCDS42395.1																																																																																				PASS	0.597	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		18	67	18	67	---	---	---	---
ASPSCR1	79058	broad.mit.edu	37	17	79974979	79974979	+	Silent	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:79974979G>A	ENST00000306739.4	+	15	1735	c.1638G>A	c.(1636-1638)ctG>ctA	p.L546L	ASPSCR1_ENST00000306729.7_Silent_p.L640L|ASPSCR1_ENST00000580534.1_Silent_p.L494L|ASPSCR1_ENST00000582404.1_3'UTR|STRA13_ENST00000583767.1_5'Flank	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	546					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)		p.L640L(1)	ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCAAGTGGCTGAAGCTGCCGG	0.721			T	TFE3	alveolar soft part sarcoma																																	uc002kcx.2				Dom	yes		17	17q25	79058	T	"""alveolar soft part sarcoma chromosome region, candidate 1"""			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(161)	1	Substitution - coding silent(1)		lung(1)	soft_tissue(118)|kidney(43)|breast(1)	162						c.(1636-1638)CTG>CTA		alveolar soft part sarcoma chromosome region,							10.0	14.0	13.0					17																	79974979		2148	4236	6384	SO:0001819	synonymous_variant	79058						protein binding	g.chr17:79974979G>A	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.1638G>A	17.37:g.79974979G>A						ASPSCR1_uc002kcw.1_Silent_p.L546L|ASPSCR1_uc002kcy.2_Silent_p.L640L|ASPSCR1_uc002kcz.2_Silent_p.L440L|ASPSCR1_uc002kda.2_Silent_p.L494L	p.L546L	NM_024083	NP_076988	Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		15	1735	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		546					A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Silent	SNP	ENST00000306739.4	37	c.1638G>A	CCDS11796.1																																																																																				PASS	0.721	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083		20	12	20	12	---	---	---	---
GRP	2922	broad.mit.edu	37	18	56892922	56892922	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr18:56892922C>A	ENST00000256857.2	+	2	436	c.338C>A	c.(337-339)tCa>tAa	p.S113*	GRP_ENST00000529320.2_Nonsense_Mutation_p.S113*|GRP_ENST00000420468.2_Nonsense_Mutation_p.S113*	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	113					neuropeptide signaling pathway (GO:0007218)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)	p.S113*(1)		large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				TCGTGGGATTCAGAGGATAGC	0.498																																						uc002lhv.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(337-339)TCA>TAA		gastrin-releasing peptide isoform 1							134.0	134.0	134.0					18																	56892922		2203	4300	6503	SO:0001587	stop_gained	2922				neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity	g.chr18:56892922C>A		CCDS11971.1, CCDS45877.1, CCDS45878.1	18q21.1-q21.32	2013-02-26			ENSG00000134443	ENSG00000134443		"""Endogenous ligands"""	4605	protein-coding gene	gene with protein product	"""bombesin"", ""neuromedin C"", ""prepro-GRP"""	137260					Standard	NM_002091		Approved		uc002lhv.3	P07492	OTTHUMG00000132760	ENST00000256857.2:c.338C>A	18.37:g.56892922C>A	ENSP00000256857:p.Ser113*					GRP_uc002lhu.2_Nonsense_Mutation_p.S113*|GRP_uc002lhw.2_Nonsense_Mutation_p.S113*	p.S113*	NM_002091	NP_002082	P07492	GRP_HUMAN			2	436	+		Colorectal(73;0.0946)	113					P07491|P81553|Q14454|Q53YA0|Q9BSY7	Nonsense_Mutation	SNP	ENST00000256857.2	37	c.338C>A	CCDS11971.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	19.68|19.68|19.68	3.872662|3.872662|3.872662	0.72180|0.72180|0.72180	.|.|.	.|.|.	ENSG00000134443|ENSG00000134443|ENSG00000134443	ENST00000530323|ENST00000456142|ENST00000256857;ENST00000529320;ENST00000420468	.|.|.	.|.|.	.|.|.	4.88|4.88|4.88	0.064|0.064|0.064	0.14351|0.14351|0.14351	.|.|.	.|.|1.155650	.|.|0.06443	.|.|N	.|.|0.726383	T|T|.	0.18635|0.18635|.	0.0447|0.0447|.	.|.|.	.|.|.	.|.|.	0.49389|0.49389|0.49389	D|D|D	0.999782|0.999782|0.999782	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.50558|0.50558|.	-0.8814|-0.8814|.	4|4|.	.|.|0.02654	.|.|T	.|.|1	-5.0E-4|-5.0E-4|-5.0E-4	1.6306|1.6306|1.6306	0.02732|0.02732|0.02732	0.1625:0.4443:0.1602:0.233|0.1625:0.4443:0.1602:0.233|0.1625:0.4443:0.1602:0.233	.|.|.	.|.|.	.|.|.	.|.|.	L|K|X	8|69|113	.|.|.	.|.|ENSP00000256857:S113X	F|Q|S	+|+|+	3|1|2	2|0|0	GRP|GRP|GRP	55043902|55043902|55043902	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.000000|0.000000|0.000000	0.03702|0.03702|0.03702	0.225000|0.225000|0.225000	0.24961|0.24961|0.24961	0.397000|0.397000|0.397000	0.20883|0.20883|0.20883	0.090000|0.090000|0.090000	0.17273|0.17273|0.17273	0.467000|0.467000|0.467000	0.42956|0.42956|0.42956	TTC|CAG|TCA		PASS	0.498	GRP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256131.2	NM_002091		75	50	75	50	---	---	---	---
SERPINB4	6318	broad.mit.edu	37	18	61306559	61306559	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr18:61306559C>A	ENST00000341074.5	-	7	743	c.628G>T	c.(628-630)Gta>Tta	p.V210L	SERPINB4_ENST00000356424.6_Intron	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	210					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V210L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						ATCATCTGTACAGATTTGTAT	0.358																																						uc002ljf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(628-630)GTA>TTA		serine (or cysteine) proteinase inhibitor, clade							92.0	78.0	83.0					18																	61306559		2203	4300	6503	SO:0001583	missense	6318				immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61306559C>A	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.628G>T	18.37:g.61306559C>A	ENSP00000343445:p.Val210Leu					SERPINB4_uc002lje.2_Intron|SERPINB4_uc002ljg.2_Intron	p.V210L	NM_002974	NP_002965	P48594	SPB4_HUMAN			7	714	-			210					A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.628G>T	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	T	17.82	3.483823	0.63962	.	.	ENSG00000206073	ENST00000341074;ENST00000436264	D;D	0.88509	-2.39;-2.39	4.17	3.3	0.37823	Serpin domain (3);	0.193912	0.25122	N	0.032972	D	0.93070	0.7794	M	0.94142	3.5	0.80722	D	1	B	0.29136	0.234	B	0.40038	0.317	D	0.93064	0.6477	10	0.87932	D	0	.	11.6619	0.51352	0.0:0.9127:0.0:0.0873	.	210	P48594	SPB4_HUMAN	L	210;167	ENSP00000343445:V210L;ENSP00000399796:V167L	ENSP00000343445:V210L	V	-	1	0	SERPINB4	59457539	0.999000	0.42202	0.041000	0.18516	0.002000	0.02628	4.386000	0.59620	1.102000	0.41551	-0.172000	0.13284	GTA		PASS	0.358	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		14	12	14	12	---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67741202	67741202	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr18:67741202C>A	ENST00000255674.6	-	34	4879	c.4593G>T	c.(4591-4593)agG>agT	p.R1531S	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Missense_Mutation_p.R1531S	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1531					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.R1531S(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TAGATGGAGCCCTCCAAAACT	0.408																																						uc002lkp.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(4591-4593)AGG>AGT		rotatin							101.0	90.0	94.0					18																	67741202		1865	4096	5961	SO:0001583	missense	25914						binding	g.chr18:67741202C>A	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4593G>T	18.37:g.67741202C>A	ENSP00000255674:p.Arg1531Ser					RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.R619S	p.R1531S	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			34	4661	-		Esophageal squamous(42;0.129)	1531					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.4593G>T	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.335614	0.24253	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	T;T	0.70164	0.23;-0.46	5.58	0.576	0.17380	.	0.274240	0.41605	N	0.000842	T	0.58409	0.2120	M	0.66939	2.045	0.18873	N	0.999981	P	0.45176	0.852	B	0.41440	0.357	T	0.51505	-0.8697	10	0.36615	T	0.2	.	6.4219	0.21748	0.0:0.5361:0.1203:0.3436	.	1531	Q86VV8	RTTN_HUMAN	S	1531	ENSP00000255674:R1531S;ENSP00000399520:R1531S	ENSP00000255674:R1531S	R	-	3	2	RTTN	65892182	0.004000	0.15560	0.108000	0.21378	0.119000	0.20118	-0.001000	0.12947	0.096000	0.17463	0.591000	0.81541	AGG		PASS	0.408	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		19	14	19	14	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9083436	9083436	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:9083436C>A	ENST00000397910.4	-	1	8582	c.8379G>T	c.(8377-8379)caG>caT	p.Q2793H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2793	Ser-rich.|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.Q2793H(2)		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						TAGCCATACCCTGGCTTCCTG	0.493																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(8377-8379)CAG>CAT		mucin 16							58.0	59.0	59.0					19																	9083436		1936	4142	6078	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9083436C>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.8379G>T	19.37:g.9083436C>A	ENSP00000381008:p.Gln2793His						p.Q2793H	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	8583	-			2793			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.8379G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	0.740	-0.776802	0.02929	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	0.235	0.235	0.15431	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	.	.	.	P	0.49253	0.921	B	0.33392	0.163	T	0.49072	-0.8977	7	0.87932	D	0	.	.	.	.	.	2793	B5ME49	.	H	2793	ENSP00000381008:Q2793H	ENSP00000381008:Q2793H	Q	-	3	2	MUC16	8944436	0.000000	0.05858	0.039000	0.18376	0.046000	0.14306	-0.260000	0.08708	0.308000	0.22923	0.313000	0.20887	CAG		PASS	0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		17	5	17	5	---	---	---	---
BRD4	23476	broad.mit.edu	37	19	15350263	15350263	+	Silent	SNP	T	T	G	rs560435464		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:15350263T>G	ENST00000263377.2	-	17	3737	c.3516A>C	c.(3514-3516)ccA>ccC	p.P1172P		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1172	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)	p.P1172P(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CAGGGGCCCCTGGTGGCGGTG	0.627			T	C15orf55	lethal midline carcinoma of young people								t|||	1	0.000199681	0.0	0.0	5008	,	,		15731	0.0		0.001	False		,,,				2504	0.0					uc002nar.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	NUT|C15orf55		lethal midline carcinoma of young people		1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(3514-3516)CCA>CCC		bromodomain-containing protein 4 isoform long							60.0	59.0	60.0					19																	15350263		2203	4300	6503	SO:0001819	synonymous_variant	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15350263T>G	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3516A>C	19.37:g.15350263T>G							p.P1172P	NM_058243	NP_490597	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		17	3738	-			1172					O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	37	c.3516A>C	CCDS12328.1																																																																																				PASS	0.627	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		7	75	7	75	---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17743602	17743602	+	Silent	SNP	A	A	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:17743602A>T	ENST00000519716.2	-	28	3416	c.3417T>A	c.(3415-3417)ccT>ccA	p.P1139P	UNC13A_ENST00000550896.1_Silent_p.P1137P|UNC13A_ENST00000552293.1_Silent_p.P1139P|UNC13A_ENST00000252773.7_Silent_p.P1139P|UNC13A_ENST00000428389.2_Silent_p.P1227P|UNC13A_ENST00000551649.1_Silent_p.P1139P	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1139	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.P1139P(1)|p.P1227P(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CAGGGTACTCAGGCACGCGGT	0.537																																						uc002nhd.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(3679-3681)CCT>CCA		unc-13 homolog A							94.0	99.0	97.0					19																	17743602		2105	4240	6345	SO:0001819	synonymous_variant	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17743602A>T	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3417T>A	19.37:g.17743602A>T							p.P1227P	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			28	3681	-			1139			MHD1.		E5RHY9	Silent	SNP	ENST00000519716.2	37	c.3681T>A	CCDS46013.2																																																																																				PASS	0.537	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		53	19	53	19	---	---	---	---
NCAN	1463	broad.mit.edu	37	19	19330015	19330015	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:19330015A>T	ENST00000252575.6	+	3	464	c.365A>T	c.(364-366)aAc>aTc	p.N122I		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	122	Ig-like V-type.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.N136I(1)|p.N122I(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CGCCGAGCCAACGCCACGCTA	0.647																																						uc002nlz.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(364-366)AAC>ATC		chondroitin sulfate proteoglycan 3 precursor							44.0	37.0	39.0					19																	19330015		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19330015A>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.365A>T	19.37:g.19330015A>T	ENSP00000252575:p.Asn122Ile						p.N122I	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		3	464	+			122			Ig-like V-type.		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.365A>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	A	11.44	1.640088	0.29157	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	T	0.02890	4.12	4.75	3.71	0.42584	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43110	D	0.000606	T	0.12008	0.0292	M	0.77103	2.36	0.80722	D	1	D	0.71674	0.998	D	0.63877	0.919	T	0.00207	-1.1919	10	0.87932	D	0	-6.3733	9.8668	0.41148	0.8281:0.1719:0.0:0.0	.	122	O14594	NCAN_HUMAN	I	136;122	ENSP00000252575:N122I	ENSP00000252575:N122I	N	+	2	0	NCAN	19191015	1.000000	0.71417	0.115000	0.21578	0.040000	0.13550	5.861000	0.69553	0.640000	0.30582	0.402000	0.26972	AAC		PASS	0.647	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		15	7	15	7	---	---	---	---
ANKRD27	84079	broad.mit.edu	37	19	33098591	33098591	+	Missense_Mutation	SNP	C	C	A	rs148333561		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:33098591C>A	ENST00000306065.4	-	23	2481	c.2323G>T	c.(2323-2325)Gca>Tca	p.A775S	SNORA68_ENST00000364518.1_RNA	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	775					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.A775S(1)|p.A775T(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GCTTGGTCTGCGTTCCTGGCA	0.692																																						uc002ntn.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(2323-2325)GCA>TCA		ankyrin repeat domain 27 (VPS9 domain)							46.0	39.0	41.0					19																	33098591		2203	4300	6503	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33098591C>A	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.2323G>T	19.37:g.33098591C>A	ENSP00000304292:p.Ala775Ser						p.A775S	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN			23	2479	-	Esophageal squamous(110;0.137)		775					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.2323G>T	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	C	1.573	-0.533715	0.04082	.	.	ENSG00000105186	ENST00000306065	T	0.70749	-0.51	5.7	0.241	0.15494	Ankyrin repeat-containing domain (4);	0.950492	0.08769	N	0.896506	T	0.48554	0.1506	N	0.11560	0.145	0.09310	N	1	B	0.14438	0.01	B	0.14023	0.01	T	0.26121	-1.0112	10	0.18276	T	0.48	-0.1113	9.5728	0.39438	0.0:0.6464:0.0:0.3536	.	775	Q96NW4	ANR27_HUMAN	S	775	ENSP00000304292:A775S	ENSP00000304292:A775S	A	-	1	0	ANKRD27	37790431	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.394000	0.20834	-0.110000	0.12022	-0.137000	0.14449	GCA		PASS	0.692	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		23	27	23	27	---	---	---	---
WDR62	284403	broad.mit.edu	37	19	36546012	36546012	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:36546012C>T	ENST00000270301.7	+	1	139	c.139C>T	c.(139-141)Cga>Tga	p.R47*	THAP8_ENST00000538849.1_5'Flank|WDR62_ENST00000401500.2_Nonsense_Mutation_p.R47*|WDR62_ENST00000388999.3_Nonsense_Mutation_p.R47*|THAP8_ENST00000292894.1_5'Flank|THAP8_ENST00000524106.1_5'Flank|WDR62_ENST00000378860.4_3'UTR			O43379	WDR62_HUMAN	WD repeat domain 62	47					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.R47*(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCGGCGGACGCGACTCTCGAC	0.682																																						uc002odc.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(139-141)CGA>TGA		WD repeat domain 62 isoform 2							7.0	8.0	7.0					19																	36546012		1969	3948	5917	SO:0001587	stop_gained	284403				cerebral cortex development	nucleus		g.chr19:36546012C>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.139C>T	19.37:g.36546012C>T	ENSP00000270301:p.Arg47*					WDR62_uc002odd.2_Nonsense_Mutation_p.R47*|THAP8_uc010xtb.1_5'Flank|THAP8_uc002oda.1_5'Flank|THAP8_uc010xtc.1_5'Flank|WDR62_uc010eer.2_Nonsense_Mutation_p.R47*|WDR62_uc002odb.2_Nonsense_Mutation_p.R47*	p.R47*	NM_173636	NP_775907	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		1	230	+	Esophageal squamous(110;0.162)		47					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Nonsense_Mutation	SNP	ENST00000270301.7	37	c.139C>T	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	C	36	5.695436	0.96802	.	.	ENSG00000075702	ENST00000401500;ENST00000388999;ENST00000378860;ENST00000270301;ENST00000427823	.	.	.	5.28	3.04	0.35103	.	0.274088	0.24803	N	0.035480	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.814	10.1854	0.42995	0.384:0.616:0.0:0.0	.	.	.	.	X	47;47;47;47;41	.	ENSP00000270301:R47X	R	+	1	2	WDR62	41237852	0.289000	0.24334	0.987000	0.45799	0.759000	0.43091	0.662000	0.25038	1.450000	0.47717	0.462000	0.41574	CGA		PASS	0.682	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		9	9	9	9	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	39002961	39002961	+	Missense_Mutation	SNP	G	G	A	rs193922832		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:39002961G>A	ENST00000359596.3	+	63	9310	c.9310G>A	c.(9310-9312)Gag>Aag	p.E3104K	RYR1_ENST00000360985.3_Missense_Mutation_p.E3104K|RYR1_ENST00000355481.4_Missense_Mutation_p.E3104K			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3104					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.E3104K(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)	GGAGGACATCGAGAAGATGGT	0.617																																						uc002oit.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	GRCh37	CM064211	RYR1	M		c.(9310-9312)GAG>AAG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						70.0	67.0	68.0					19																	39002961		2203	4300	6503	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.chr19:39002961G>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.9310G>A	19.37:g.39002961G>A	ENSP00000352608:p.Glu3104Lys					RYR1_uc002oiu.2_Missense_Mutation_p.E3104K|RYR1_uc002oiv.1_Missense_Mutation_p.E24K|RYR1_uc010xuf.1_Missense_Mutation_p.E24K	p.E3104K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		63	9440	+	all_cancers(60;7.91e-06)		3104			Cytoplasmic.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.9310G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287726	0.80803	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.96856	-4.15;-4.15;-4.15	4.36	4.36	0.52297	.	0.000000	0.64402	U	0.000002	D	0.97473	0.9173	M	0.65975	2.015	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.992;0.981	D	0.96903	0.9661	10	0.33141	T	0.24	.	16.6833	0.85298	0.0:0.0:1.0:0.0	.	3104;3104;3104	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	K	3104;3104;3104;24	ENSP00000352608:E3104K;ENSP00000347667:E3104K;ENSP00000354254:E3104K	ENSP00000347667:E3104K	E	+	1	0	RYR1	43694801	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.633000	0.98432	2.243000	0.73865	0.591000	0.81541	GAG		PASS	0.617	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			42	47	42	47	---	---	---	---
ACTN4	81	broad.mit.edu	37	19	39215195	39215195	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:39215195C>A	ENST00000252699.2	+	16	2076	c.2000C>A	c.(1999-2001)aCc>aAc	p.T667N	ACTN4_ENST00000424234.2_Missense_Mutation_p.T277N|ACTN4_ENST00000390009.3_Missense_Mutation_p.T448N	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	667					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.T667N(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGATCCAGACCAAGATGGAG	0.657																																					Colon(168;199 1940 10254 46213 46384)	uc002oja.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1999-2001)ACC>AAC		actinin, alpha 4							56.0	56.0	56.0					19																	39215195		2203	4300	6503	SO:0001583	missense	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39215195C>A	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2000C>A	19.37:g.39215195C>A	ENSP00000252699:p.Thr667Asn					ACTN4_uc002ojb.1_5'Flank	p.T667N	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		16	2059	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		667			Spectrin 4.		A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	c.2000C>A	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669227	0.29604	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009;ENST00000440400	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	3.75	2.69	0.31865	.	0.148753	0.46442	N	0.000288	T	0.34861	0.0912	L	0.35723	1.085	0.38602	D	0.950686	B	0.02656	0.0	B	0.08055	0.003	T	0.18429	-1.0337	10	0.23302	T	0.38	.	11.6774	0.51438	0.179:0.821:0.0:0.0	.	667	O43707	ACTN4_HUMAN	N	667;277;448;103	ENSP00000252699:T667N;ENSP00000411187:T277N;ENSP00000439497:T448N;ENSP00000398393:T103N	ENSP00000252699:T667N	T	+	2	0	ACTN4	43907035	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	4.621000	0.61233	0.907000	0.36646	-0.314000	0.08810	ACC		PASS	0.657	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			37	89	37	89	---	---	---	---
IRGC	56269	broad.mit.edu	37	19	44223367	44223367	+	Silent	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:44223367G>T	ENST00000244314.5	+	2	856	c.657G>T	c.(655-657)tcG>tcT	p.S219S		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	219	IRG-type G.					membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)	p.S219S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CCAACCTCTCGCCGGCCCGCT	0.701																																					Colon(189;350 2037 11447 13433 38914)	uc002oxh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(655-657)TCG>TCT		immunity-related GTPase family, cinema							24.0	24.0	24.0					19																	44223367		2200	4297	6497	SO:0001819	synonymous_variant	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44223367G>T	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.657G>T	19.37:g.44223367G>T							p.S219S	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN			2	804	+		Prostate(69;0.0435)	219					Q05BR8	Silent	SNP	ENST00000244314.5	37	c.657G>T	CCDS12629.1																																																																																				PASS	0.701	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		43	55	43	55	---	---	---	---
PPP1R13L	10848	broad.mit.edu	37	19	45899647	45899647	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:45899647C>T	ENST00000418234.2	-	5	838	c.760G>A	c.(760-762)Gac>Aac	p.D254N	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.D254N	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	254	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.D254N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		ACGTCCAGGTCAGACTCGTTC	0.657																																					Pancreas(61;1447 1663 31419 50578)	uc002pbn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(760-762)GAC>AAC		protein phosphatase 1, regulatory subunit 13							67.0	71.0	70.0					19																	45899647		2203	4300	6503	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45899647C>T	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.760G>A	19.37:g.45899647C>T	ENSP00000403902:p.Asp254Asn					PPP1R13L_uc002pbo.2_Missense_Mutation_p.D254N|PPP1R13L_uc002pbp.2_Missense_Mutation_p.D254N	p.D254N	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	5	837	-		all_neural(266;0.224)|Ovarian(192;0.231)	254			Pro-rich.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.760G>A	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004229	0.35320	.	.	ENSG00000104881	ENST00000418234;ENST00000360957	T;T	0.78924	-1.22;-1.22	4.84	3.78	0.43462	.	0.304838	0.33631	N	0.004701	T	0.62527	0.2435	L	0.27053	0.805	0.39133	D	0.96188	B;B	0.20887	0.049;0.002	B;B	0.20384	0.029;0.005	T	0.55648	-0.8108	10	0.20046	T	0.44	.	9.4411	0.38668	0.0:0.8991:0.0:0.1009	.	254;254	Q6ZNZ8;Q8WUF5	.;IASPP_HUMAN	N	254	ENSP00000403902:D254N;ENSP00000354218:D254N	ENSP00000354218:D254N	D	-	1	0	PPP1R13L	50591487	1.000000	0.71417	0.963000	0.40424	0.101000	0.19017	3.432000	0.52824	1.019000	0.39547	0.561000	0.74099	GAC		PASS	0.657	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		26	113	26	113	---	---	---	---
PTGIR	5739	broad.mit.edu	37	19	47126730	47126730	+	Silent	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:47126730G>A	ENST00000291294.2	-	2	886	c.753C>T	c.(751-753)tgC>tgT	p.C251C	PTGIR_ENST00000598865.1_Silent_p.C39C|PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000596260.1_Silent_p.C251C|PTGIR_ENST00000594275.1_Silent_p.C8C	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	251					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.C251C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	GAGGCAGGGAGCACACGGCCA	0.667																																						uc002pex.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(751-753)TGC>TGT		prostaglandin I2 (prostacyclin) receptor (IP)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)						17.0	17.0	17.0					19																	47126730		2197	4285	6482	SO:0001819	synonymous_variant	5739				cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity	g.chr19:47126730G>A		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"""GPCR / Class A : Prostanoid receptors"""	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.753C>T	19.37:g.47126730G>A							p.C251C	NM_000960	NP_000951	P43119	PI2R_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	2	866	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	251			Helical; Name=6; (Potential).			Silent	SNP	ENST00000291294.2	37	c.753C>T	CCDS12686.1																																																																																				PASS	0.667	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1			5	7	5	7	---	---	---	---
CCDC9	26093	broad.mit.edu	37	19	47773852	47773852	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:47773852G>C	ENST00000221922.6	+	10	1214	c.992G>C	c.(991-993)gGg>gCg	p.G331A		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	331							poly(A) RNA binding (GO:0044822)	p.G331A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CCTACTTTTGGGGAGTTCCTG	0.652																																						uc010xym.1																			1	Substitution - Missense(1)		lung(1)		0						c.(991-993)GGG>GCG		coiled-coil domain containing 9							41.0	49.0	47.0					19																	47773852		2203	4299	6502	SO:0001583	missense	26093							g.chr19:47773852G>C	AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.992G>C	19.37:g.47773852G>C	ENSP00000221922:p.Gly331Ala						p.G331A	NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)	10	1199	+		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)	331						Missense_Mutation	SNP	ENST00000221922.6	37	c.992G>C	CCDS12698.1	.	.	.	.	.	.	.	.	.	.	.	11.60	1.687358	0.29962	.	.	ENSG00000105321	ENST00000221922;ENST00000504556	T	0.45276	0.9	4.51	3.47	0.39725	.	0.243493	0.40222	N	0.001159	T	0.39118	0.1066	L	0.59436	1.845	0.41155	D	0.986058	B	0.21225	0.053	B	0.25140	0.058	T	0.33929	-0.9849	10	0.52906	T	0.07	-32.3983	9.9477	0.41621	0.0978:0.0:0.9022:0.0	.	331	Q9Y3X0	CCDC9_HUMAN	A	331;313	ENSP00000221922:G331A	ENSP00000221922:G331A	G	+	2	0	CCDC9	52465692	1.000000	0.71417	0.996000	0.52242	0.381000	0.30169	4.624000	0.61254	1.101000	0.41535	0.305000	0.20034	GGG		PASS	0.652	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	NM_015603		77	88	77	88	---	---	---	---
MEIS3	56917	broad.mit.edu	37	19	47912484	47912484	+	Missense_Mutation	SNP	C	C	G	rs367920242		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:47912484C>G	ENST00000558555.1	-	8	917	c.730G>C	c.(730-732)Gtg>Ctg	p.V244L	MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000561096.1_Missense_Mutation_p.V332L|MEIS3_ENST00000441740.2_Missense_Mutation_p.V227L|MEIS3_ENST00000561293.1_Missense_Mutation_p.V244L|MEIS3_ENST00000559524.1_Missense_Mutation_p.V244L|MEIS3_ENST00000331559.5_Missense_Mutation_p.V227L			Q99687	MEIS3_HUMAN	Meis homeobox 3	244	Ser/Thr-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.V244L(1)		breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GGAGAGGCCACGCTGGTGTCC	0.597																																						uc002pgu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(730-732)GTG>CTG		Meis1, myeloid ecotropic viral integration site							47.0	37.0	40.0					19																	47912484		2203	4300	6503	SO:0001583	missense	56917					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:47912484C>G	BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"""Homeoboxes / TALE class"""	29537	protein-coding gene	gene with protein product			"""Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"""			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.730G>C	19.37:g.47912484C>G	ENSP00000454073:p.Val244Leu					MEIS3_uc010xyp.1_5'Flank|MEIS3_uc002pgo.2_Missense_Mutation_p.V43L|MEIS3_uc002pgp.2_Missense_Mutation_p.V76L|MEIS3_uc002pgq.2_Missense_Mutation_p.V325L|MEIS3_uc002pgr.2_Missense_Mutation_p.V112L|MEIS3_uc002pgt.2_Missense_Mutation_p.V227L|MEIS3_uc002pgv.2_Missense_Mutation_p.V227L|MEIS3_uc002pgs.2_Missense_Mutation_p.V244L|MEIS3_uc010eld.2_Missense_Mutation_p.V244L	p.V244L	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)	8	1177	-		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	244			Ser/Thr-rich.		A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Missense_Mutation	SNP	ENST00000558555.1	37	c.730G>C		.	.	.	.	.	.	.	.	.	.	C	10.96	1.499844	0.26861	.	.	ENSG00000105419	ENST00000331559;ENST00000441740	D	0.87103	-2.21	4.49	3.46	0.39613	.	0.251014	0.30732	N	0.008999	D	0.82664	0.5086	L	0.52364	1.645	0.30543	N	0.766307	B;B;B;P;B	0.45715	0.006;0.005;0.025;0.865;0.015	B;B;B;B;B	0.42062	0.005;0.014;0.022;0.374;0.008	T	0.80190	-0.1485	10	0.36615	T	0.2	-6.3253	10.7743	0.46340	0.0:0.9059:0.0:0.0941	.	136;244;227;244;119	Q8TCW1;Q99687;Q99687-3;Q99687-2;Q59FK5	.;MEIS3_HUMAN;.;.;.	L	244;227	ENSP00000388667:V227L	ENSP00000333552:V244L	V	-	1	0	MEIS3	52604296	0.320000	0.24616	0.866000	0.34008	0.512000	0.34134	0.885000	0.28227	1.242000	0.43836	-0.137000	0.14449	GTG		PASS	0.597	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000417642.1	XM_085929		27	30	27	30	---	---	---	---
TPRX1	284355	broad.mit.edu	37	19	48306229	48306229	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:48306229G>T	ENST00000322175.3	-	2	194	c.39C>A	c.(37-39)ttC>ttA	p.F13L	TPRX1_ENST00000535759.1_Missense_Mutation_p.F110L|TPRX1_ENST00000543508.1_Missense_Mutation_p.F13L	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	13						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F13L(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-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;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		GGCGATTCTTGAACCACACCT	0.706																																					Esophageal Squamous(123;175 2281 3051 32395)	uc002php.1																			1	Substitution - Missense(1)		lung(1)		0						c.(37-39)TTC>TTA		tetra-peptide repeat homeobox							3.0	4.0	4.0					19																	48306229		1532	3001	4533	SO:0001583	missense	284355					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48306229G>T		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"""Homeoboxes / PRD class"""	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.39C>A	19.37:g.48306229G>T	ENSP00000323455:p.Phe13Leu						p.F13L	NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)	2	110	-		all_cancers(25;3.02e-09)|all_epithelial(76;7e-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)	13			Homeobox.		A5D8Y3|B2RPL5	Missense_Mutation	SNP	ENST00000322175.3	37	c.39C>A	CCDS33066.1	.	.	.	.	.	.	.	.	.	.	-	15.97	2.990340	0.54041	.	.	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	D;D;D	0.99741	-6.22;-6.6;-6.22	1.56	1.56	0.23342	Homeodomain-related (1);Homeobox (1);	.	.	.	.	D	0.99576	0.9847	M	0.91406	3.205	0.25420	N	0.988279	D	0.60575	0.988	P	0.59948	0.866	D	0.98457	1.0594	9	0.87932	D	0	.	6.5804	0.22591	0.0:0.0:1.0:0.0	.	13	Q8N7U7	TPRX1_HUMAN	L	13;110;13	ENSP00000323455:F13L;ENSP00000438832:F110L;ENSP00000438712:F13L	ENSP00000323455:F13L	F	-	3	2	TPRX1	52998041	1.000000	0.71417	0.999000	0.59377	0.486000	0.33341	2.393000	0.44442	1.185000	0.42971	0.491000	0.48974	TTC		PASS	0.706	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		3	5	3	5	---	---	---	---
LHB	3972	broad.mit.edu	37	19	49519409	49519410	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:49519409_49519410GC>AT	ENST00000221421.2	-	3	340_341	c.341_342GC>AT	c.(340-342)cGC>cAT	p.R114H	CTB-60B18.10_ENST00000600007.1_lincRNA	NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	114					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|male gonad development (GO:0008584)|peptide hormone processing (GO:0016486)|progesterone biosynthetic process (GO:0006701)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)	p.R114H(2)|p.R114R(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		AGGTGCTGCGGCGGCAGGGTCC	0.658																																						uc002plt.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(340-342)CGC>CGT|c.(340-342)CGC>CAC		luteinizing hormone beta subunit precursor	Lutropin alfa(DB00044)|Menotropins(DB00032)																																			SO:0001583	missense	3972				cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr19:49519409G>A|g.chr19:49519410C>T		CCDS12748.1	19q13.3	2013-02-26				ENSG00000104826		"""Endogenous ligands"""	6584	protein-coding gene	gene with protein product	"""lutropin, beta chain"", ""interstitial cell stimulating hormone, beta chain"", ""luteinizing hormone beta subunit"""	152780				1191677	Standard	NM_000894		Approved	LSH-B, CGB4, hLHB	uc002plt.3	P01229		ENST00000221421.2:c.341_342delinsAT	19.37:g.49519409_49519410delinsAT	ENSP00000221421:p.Arg114His						p.R114R|p.R114H	NM_000894	NP_000885	P01229	LSHB_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	3	351|350	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	114					Q9UDI0	Silent|Missense_Mutation	SNP	ENST00000221421.2	37	c.342C>T|c.341G>A	CCDS12748.1																																																																																				PASS	0.658	LHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466246.1	NM_000894		38|39	126|124	38	124	---	---	---	---
CCDC155	147872	broad.mit.edu	37	19	49916242	49916242	+	Silent	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:49916242G>A	ENST00000447857.3	+	16	1492	c.1287G>A	c.(1285-1287)gaG>gaA	p.E429E		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	429						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.E429E(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						TCCAGGGAGAGCCAGCGCACC	0.522																																						uc002pnm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1285-1287)GAG>GAA		coiled-coil domain containing 155							78.0	84.0	82.0					19																	49916242		2003	4157	6160	SO:0001819	synonymous_variant	147872					integral to membrane	calcium ion binding	g.chr19:49916242G>A		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.1287G>A	19.37:g.49916242G>A						CCDC155_uc010emx.1_Silent_p.E400E	p.E429E	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN			16	1461	+			429					Q96MC3	Silent	SNP	ENST00000447857.3	37	c.1287G>A	CCDS46140.1																																																																																				PASS	0.522	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		6	70	6	70	---	---	---	---
PRKCG	5582	broad.mit.edu	37	19	54385852	54385852	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:54385852G>A	ENST00000263431.3	+	1	386	c.104G>A	c.(103-105)aGc>aAc	p.S35N	PRKCG_ENST00000542049.1_5'Flank|PRKCG_ENST00000540413.1_Missense_Mutation_p.S35N|PRKCG_ENST00000536044.1_Missense_Mutation_p.S35N	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	35					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.S35N(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	GAAGTCAAGAGCCACAAGTTC	0.647																																						uc002qcq.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(103-105)AGC>AAC		protein kinase C, gamma							75.0	76.0	76.0					19																	54385852		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54385852G>A	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.104G>A	19.37:g.54385852G>A	ENSP00000263431:p.Ser35Asn					PRKCG_uc010eqz.1_Missense_Mutation_p.S35N|PRKCG_uc010yef.1_Missense_Mutation_p.S35N|PRKCG_uc010yeg.1_Missense_Mutation_p.S35N|PRKCG_uc010yeh.1_5'Flank	p.S35N	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	1	386	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		35			Phorbol-ester/DAG-type 1.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.104G>A	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290856	0.23564	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000419486	T;T;T	0.80909	-1.43;-1.43;-1.43	3.84	3.84	0.44239	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Diacylglycerol/phorbol-ester binding (1);	.	.	.	.	T	0.58409	0.2120	N	0.02960	-0.455	0.80722	D	1	B;B;B;B	0.09022	0.002;0.001;0.0;0.002	B;B;B;B	0.13407	0.009;0.004;0.003;0.001	T	0.54357	-0.8306	9	0.16420	T	0.52	.	13.6297	0.62188	0.0:0.0:1.0:0.0	.	35;35;35;35	F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;KPCG_HUMAN	N	35;35;35;58	ENSP00000440541:S35N;ENSP00000443493:S35N;ENSP00000263431:S35N	ENSP00000263431:S35N	S	+	2	0	PRKCG	59077664	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.391000	0.44424	1.876000	0.54355	0.491000	0.48974	AGC		PASS	0.647	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		37	132	37	132	---	---	---	---
LENG8	114823	broad.mit.edu	37	19	54967990	54967990	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:54967990G>A	ENST00000326764.5	+	11	2100	c.1621G>A	c.(1621-1623)Gct>Act	p.A541T	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	504								p.A541T(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GAGCAGTGGGGCTGACCCTGA	0.682																																						uc002qfv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(1510-1512)GCT>ACT		RecName: Full=Leukocyte receptor cluster member 8;							32.0	29.0	30.0					19																	54967990		2203	4298	6501	SO:0001583	missense	114823						protein binding	g.chr19:54967990G>A	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1621G>A	19.37:g.54967990G>A	ENSP00000318374:p.Ala541Thr					LENG8_uc002qfw.2_Missense_Mutation_p.A541T	p.A504T			Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	10	1654	+	Ovarian(34;0.19)		504					B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	c.1510G>A	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.727325	0.30593	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	T;T;T	0.32023	1.51;1.49;1.47	4.3	4.3	0.51218	.	0.137575	0.49305	D	0.000146	T	0.18923	0.0454	N	0.19112	0.55	0.35124	D	0.767281	B;B	0.21225	0.003;0.053	B;B	0.20384	0.012;0.029	T	0.16541	-1.0399	10	0.28530	T	0.3	-10.6369	10.3169	0.43743	0.0:0.0:0.8027:0.1973	.	541;504	Q96PV6-2;F8W9Q9	.;.	T	541;504;504;541	ENSP00000318374:A541T;ENSP00000365709:A504T;ENSP00000388053:A541T	ENSP00000301196:A504T	A	+	1	0	LENG8	59659802	0.995000	0.38212	0.042000	0.18584	0.548000	0.35241	3.520000	0.53465	2.345000	0.79718	0.561000	0.74099	GCT		PASS	0.682	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		15	19	15	19	---	---	---	---
CDC42EP5	148170	broad.mit.edu	37	19	54976300	54976300	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:54976300G>C	ENST00000301200.2	-	3	773	c.432C>G	c.(430-432)gaC>gaG	p.D144E	LENG9_ENST00000333834.4_5'Flank	NM_145057.2	NP_659494.2	Q6NZY7	BORG3_HUMAN	CDC42 effector protein (Rho GTPase binding) 5	144					JNK cascade (GO:0007254)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)	p.D144E(1)		lung(1)|skin(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.138)		GGCCGATGACGTCGTTCAGCT	0.711																																						uc002qfz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(430-432)GAC>GAG		CDC42 effector protein 5							5.0	5.0	5.0					19																	54976300		1690	3224	4914	SO:0001583	missense	148170				positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|membrane	GTP-Rho binding	g.chr19:54976300G>C	BC024327	CCDS12896.1	19q13.42	2008-02-05			ENSG00000167617	ENSG00000167617			17408	protein-coding gene	gene with protein product		609171					Standard	NM_145057		Approved	CEP5, Borg3	uc002qfz.1	Q6NZY7	OTTHUMG00000065699	ENST00000301200.2:c.432C>G	19.37:g.54976300G>C	ENSP00000301200:p.Asp144Glu					LENG9_uc010yez.1_5'Flank	p.D144E	NM_145057	NP_659494	Q6NZY7	BORG3_HUMAN		GBM - Glioblastoma multiforme(193;0.138)	3	785	-	Ovarian(34;0.19)		144					B0VJZ2|Q8TB51	Missense_Mutation	SNP	ENST00000301200.2	37	c.432C>G	CCDS12896.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818566	0.71028	.	.	ENSG00000167617	ENST00000301200	T	0.34472	1.36	2.75	-1.34	0.09143	.	0.000000	0.37261	U	0.002172	T	0.24624	0.0597	L	0.51422	1.61	0.23346	N	0.997864	B	0.22211	0.066	B	0.14023	0.01	T	0.16070	-1.0415	10	0.66056	D	0.02	-12.0048	4.0725	0.09889	0.2507:0.0:0.5653:0.184	.	144	Q6NZY7	BORG3_HUMAN	E	144	ENSP00000301200:D144E	ENSP00000301200:D144E	D	-	3	2	CDC42EP5	59668112	0.828000	0.29307	0.997000	0.53966	0.675000	0.39556	-0.000000	0.12993	0.052000	0.16007	0.555000	0.69702	GAC		PASS	0.711	CDC42EP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140804.1	NM_145057		5	9	5	9	---	---	---	---
TNNT1	7138	broad.mit.edu	37	19	55645563	55645563	+	Silent	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:55645563A>G	ENST00000588981.1	-	12	825	c.621T>C	c.(619-621)tcT>tcC	p.S207S	TNNT1_ENST00000587465.2_Intron|TNNT1_ENST00000536926.1_Intron|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000587758.1_Intron|TNNT1_ENST00000585321.2_Intron|TNNT1_ENST00000291901.8_Intron|TNNT1_ENST00000356783.5_Intron	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	207					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)	p.S207S(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		GCAGCCAGGCAGACCGGGCCC	0.627																																						uc002qjb.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(619-621)TCT>TCC		troponin T1, skeletal, slow isoform a							18.0	17.0	17.0					19																	55645563		2196	4292	6488	SO:0001819	synonymous_variant	7138				muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding	g.chr19:55645563A>G		CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"""slow skeletal muscle troponin T"", ""troponin T1, skeletal, slow"", ""nemaline myopathy type 5"""	191041	"""troponin T1, skeletal, slow"""			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.621T>C	19.37:g.55645563A>G						TNNT1_uc002qiz.3_Intron|TNNT1_uc002qja.3_Intron|TNNT1_uc002qjc.3_Intron|TNNT1_uc002qje.3_Intron|TNNT1_uc002qjd.3_Intron	p.S207S	NM_003283	NP_003274	P13805	TNNT1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)	12	710	-			207					O95472|Q16061|Q5U0E1	Silent	SNP	ENST00000588981.1	37	c.621T>C	CCDS12917.1																																																																																				PASS	0.627	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2	NM_003283		9	1	9	1	---	---	---	---
U2AF2	11338	broad.mit.edu	37	19	56180949	56180949	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:56180949A>T	ENST00000308924.4	+	11	1224	c.1184A>T	c.(1183-1185)tAt>tTt	p.Y395F	CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000450554.2_Missense_Mutation_p.Y391F|CTD-2537I9.13_ENST00000592252.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.Y227F|CTD-2537I9.12_ENST00000585940.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	395	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Y395F(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GACGAGGAGTATGAGGAGATC	0.642																																						uc002qlu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1183-1185)TAT>TTT		U2 (RNU2) small nuclear RNA auxiliary factor 2							154.0	136.0	142.0					19																	56180949		2203	4300	6503	SO:0001583	missense	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56180949A>T	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.1184A>T	19.37:g.56180949A>T	ENSP00000307863:p.Tyr395Phe					U2AF2_uc002qlt.2_Missense_Mutation_p.Y391F	p.Y395F	NM_007279	NP_009210	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	11	2239	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	395			RRM 3.		Q96HC5	Missense_Mutation	SNP	ENST00000308924.4	37	c.1184A>T	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	A	16.71	3.199227	0.58126	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.15834	2.43;2.39	4.72	4.72	0.59763	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.64402	D	0.000001	T	0.32346	0.0826	L	0.56396	1.775	0.80722	D	1	B;P	0.39326	0.214;0.668	P;P	0.54856	0.462;0.762	T	0.02244	-1.1189	10	0.29301	T	0.29	-7.7435	13.4951	0.61421	1.0:0.0:0.0:0.0	.	395;391	P26368;P26368-2	U2AF2_HUMAN;.	F	395;391	ENSP00000307863:Y395F;ENSP00000388475:Y391F	ENSP00000307863:Y395F	Y	+	2	0	U2AF2	60872761	1.000000	0.71417	0.884000	0.34674	0.008000	0.06430	8.801000	0.91905	1.911000	0.55334	0.533000	0.62120	TAT		PASS	0.642	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		31	44	31	44	---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56485171	56485171	+	Nonsense_Mutation	SNP	T	T	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:56485171T>A	ENST00000291971.3	+	7	2759	c.2688T>A	c.(2686-2688)tgT>tgA	p.C896*	NLRP8_ENST00000590542.1_Nonsense_Mutation_p.C877*	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	896					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.C896*(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACCTGAGATGTCCTCTGCAGA	0.473																																						uc002qmh.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(2686-2688)TGT>TGA		NLR family, pyrin domain containing 8							116.0	104.0	108.0					19																	56485171		2203	4300	6503	SO:0001587	stop_gained	126205					cytoplasm	ATP binding	g.chr19:56485171T>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2688T>A	19.37:g.56485171T>A	ENSP00000291971:p.Cys896*					NLRP8_uc010etg.2_Nonsense_Mutation_p.C877*	p.C896*	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	7	2759	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	896					Q7RTR4	Nonsense_Mutation	SNP	ENST00000291971.3	37	c.2688T>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	T	36	5.832403	0.97003	.	.	ENSG00000179709	ENST00000291971	.	.	.	2.04	-1.69	0.08186	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.9182	0.05760	0.0:0.3294:0.2514:0.4192	.	.	.	.	X	896	.	ENSP00000291971:C896X	C	+	3	2	NLRP8	61176983	0.000000	0.05858	0.000000	0.03702	0.183000	0.23260	-0.202000	0.09451	-0.560000	0.06102	0.421000	0.28195	TGT		PASS	0.473	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		21	109	21	109	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57328279	57328279	+	Nonsense_Mutation	SNP	C	C	A	rs541630820	byFrequency	TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:57328279C>A	ENST00000326441.9	-	10	1894	c.1531G>T	c.(1531-1533)Gga>Tga	p.G511*	PEG3_ENST00000598410.1_Nonsense_Mutation_p.G387*|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Nonsense_Mutation_p.G511*|PEG3_ENST00000593695.1_Nonsense_Mutation_p.G385*	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	511					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.G511*(4)|p.G511L(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)		AAGGTCTCTCCACAGTCCTTA	0.448																																						uc002qnu.2																			6	Substitution - Nonsense(4)|Substitution - Missense(2)		lung(6)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1531-1533)GGA>TGA		paternally expressed 3 isoform 1							201.0	198.0	199.0					19																	57328279		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.chr19:57328279C>A	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.1531G>T	19.37:g.57328279C>A	ENSP00000326581:p.Gly511*					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.G482*|PEG3_uc002qnv.2_Nonsense_Mutation_p.G511*|PEG3_uc002qnw.2_Nonsense_Mutation_p.G387*|PEG3_uc002qnx.2_Nonsense_Mutation_p.G385*|PEG3_uc010etr.2_Nonsense_Mutation_p.G511*	p.G511*	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	1882	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	511			C2H2-type 2.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Nonsense_Mutation	SNP	ENST00000326441.9	37	c.1531G>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	39	7.535142	0.98342	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	.	.	.	3.99	3.99	0.46301	.	0.000000	0.45606	D	0.000351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-44.1687	14.3947	0.67003	0.0:1.0:0.0:0.0	.	.	.	.	X	511;511;481	.	ENSP00000292074:G481X	G	-	1	0	ZIM2	62020091	0.993000	0.37304	1.000000	0.80357	0.822000	0.46500	4.937000	0.63513	2.515000	0.84797	0.650000	0.86243	GGA		PASS	0.448	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			79	133	79	133	---	---	---	---
ZNF8	7554	broad.mit.edu	37	19	58806422	58806422	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:58806422G>C	ENST00000196548.5	+	4	1379	c.1248G>C	c.(1246-1248)caG>caC	p.Q416H	ZNF8_ENST00000608843.1_Missense_Mutation_p.Q416H|AC010642.1_ENST00000591325.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	416					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Q416H(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		CCCAGCACCAGCGGAAGCACG	0.607																																						uc002qry.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1246-1248)CAG>CAC		zinc finger protein 8							60.0	60.0	60.0					19																	58806422		2203	4300	6503	SO:0001583	missense	7554				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58806422G>C	M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"""Zinc fingers, C2H2-type"", ""-"""	13154	protein-coding gene	gene with protein product		194532	"""zinc finger protein 8 (clone HF.18)"""			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.1248G>C	19.37:g.58806422G>C	ENSP00000196548:p.Gln416His					ZNF8_uc002qrz.2_RNA	p.Q416H	NM_021089	NP_066575	P17098	ZNF8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)	4	1378	+		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)	416			C2H2-type 6.		Q6PI99	Missense_Mutation	SNP	ENST00000196548.5	37	c.1248G>C	CCDS12974.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898238	0.52227	.	.	ENSG00000083842	ENST00000196548;ENST00000546178	T	0.07688	3.17	4.46	2.27	0.28462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46442	D	0.000294	T	0.18383	0.0441	M	0.69358	2.11	0.29796	N	0.832823	D	0.76494	0.999	P	0.61874	0.895	T	0.03130	-1.1069	10	0.66056	D	0.02	-14.7493	5.3549	0.16055	0.1731:0.0:0.6644:0.1625	.	416	P17098	ZNF8_HUMAN	H	416;131	ENSP00000196548:Q416H	ENSP00000196548:Q416H	Q	+	3	2	ZNF8	63498234	0.000000	0.05858	0.975000	0.42487	0.831000	0.47069	-0.387000	0.07361	0.615000	0.30124	0.549000	0.68633	CAG		PASS	0.607	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000459135.1	NM_021089		10	184	10	184	---	---	---	---
PDYN	5173	broad.mit.edu	37	20	1961097	1961097	+	Missense_Mutation	SNP	G	G	A	rs150455107		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr20:1961097G>A	ENST00000217305.2	-	4	862	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	PDYN_ENST00000539905.1_Missense_Mutation_p.R213C|PDYN_ENST00000540134.1_Missense_Mutation_p.R213C|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	213					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.R213C(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGACGAATGCGCCGCAAGAAG	0.597																																						uc010gaj.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(637-639)CGC>TGC		beta-neoendorphin-dynorphin preproprotein		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	101.0	112.0	108.0		637,637,637,637,637	4.0	1.0	20	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	PDYN	NM_001190892.1,NM_001190898.2,NM_001190899.2,NM_001190900.1,NM_024411.4	180,180,180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	213/255,213/255,213/255,213/255,213/255	1961097	1,13005	2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961097G>A		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.637C>T	20.37:g.1961097G>A	ENSP00000217305:p.Arg213Cys					uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.R213C|PDYN_uc010zpt.1_Missense_Mutation_p.R58C	p.R213C	NM_024411	NP_077722	P01213	PDYN_HUMAN			3	879	-			213					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.637C>T	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055632	0.75960	0.0	1.16E-4	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.83591	-1.74;-1.74;-1.74	5.0	3.99	0.46301	.	0.000000	0.85682	D	0.000000	D	0.90868	0.7131	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90666	0.4594	10	0.52906	T	0.07	-19.9746	9.944	0.41598	0.0:0.0:0.7025:0.2975	.	213	P01213	PDYN_HUMAN	C	213	ENSP00000440185:R213C;ENSP00000442259:R213C;ENSP00000217305:R213C	ENSP00000217305:R213C	R	-	1	0	PDYN	1909097	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.681000	0.37618	2.603000	0.88011	0.313000	0.20887	CGC		PASS	0.597	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			24	176	24	176	---	---	---	---
PLCB1	23236	broad.mit.edu	37	20	8698470	8698470	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr20:8698470G>T	ENST00000338037.6	+	14	1515	c.1488G>T	c.(1486-1488)atG>atT	p.M496I	PLCB1_ENST00000378637.2_Missense_Mutation_p.M496I|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Missense_Mutation_p.M496I	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	496					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.M496I(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CCTCCAGCATGTTCGAGCCCT	0.522																																						uc002wnb.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(1486-1488)ATG>ATT		phosphoinositide-specific phospholipase C beta 1							54.0	47.0	49.0					20																	8698470		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8698470G>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1488G>T	20.37:g.8698470G>T	ENSP00000338185:p.Met496Ile					PLCB1_uc010zrb.1_Missense_Mutation_p.M395I|PLCB1_uc002wna.2_Missense_Mutation_p.M496I|PLCB1_uc002wnc.1_Missense_Mutation_p.M395I|PLCB1_uc002wnd.1_Missense_Mutation_p.M73I	p.M496I	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			14	1491	+			496					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.1488G>T	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053561	0.36277	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.50813	0.73;0.73;0.73	5.95	5.95	0.96441	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.842526	0.10872	N	0.624860	T	0.32763	0.0840	N	0.08118	0	0.30803	N	0.739672	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.18935	-1.0321	10	0.37606	T	0.19	.	15.8273	0.78725	0.0:0.135:0.865:0.0	.	496;496	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	I	496;496;496;416;416	ENSP00000367908:M496I;ENSP00000338185:M496I;ENSP00000367904:M496I	ENSP00000338185:M496I	M	+	3	0	PLCB1	8646470	1.000000	0.71417	0.997000	0.53966	0.695000	0.40330	2.496000	0.45346	2.824000	0.97209	0.655000	0.94253	ATG		PASS	0.522	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			34	31	34	31	---	---	---	---
PAX1	5075	broad.mit.edu	37	20	21695303	21695303	+	Silent	SNP	A	A	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr20:21695303A>C	ENST00000398485.2	+	5	1521	c.1467A>C	c.(1465-1467)ggA>ggC	p.G489G	PAX1_ENST00000444366.2_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	489					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G489G(1)|p.G395G(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GGATCGGAGGACTCGCGGAGG	0.746																																						uc002wsj.2																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|kidney(1)	2						c.(1465-1467)GGA>GGC		paired box 1							18.0	18.0	18.0					20																	21695303		2189	4266	6455	SO:0001819	synonymous_variant	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21695303A>C		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1467A>C	20.37:g.21695303A>C						PAX1_uc010zsl.1_3'UTR|PAX1_uc010zsm.1_3'UTR	p.G489G	NM_006192	NP_006183	P15863	PAX1_HUMAN			5	1521	+			489					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	ENST00000398485.2	37	c.1467A>C	CCDS13146.2																																																																																				PASS	0.746	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			16	20	16	20	---	---	---	---
EPB41L1	2036	broad.mit.edu	37	20	34797717	34797717	+	Missense_Mutation	SNP	G	G	T	rs140677677		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr20:34797717G>T	ENST00000338074.2	+	15	2137	c.1976G>T	c.(1975-1977)cGg>cTg	p.R659L	EPB41L1_ENST00000202028.5_Missense_Mutation_p.R585L|EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373950.2_Missense_Mutation_p.R550L|EPB41L1_ENST00000373941.1_Missense_Mutation_p.R659L|EPB41L1_ENST00000441639.1_Missense_Mutation_p.R585L	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	659					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.R948L(1)|p.R659L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CTGTTCTCCCGGGATCTCAAC	0.637																																						uc002xfb.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(1975-1977)CGG>CTG		erythrocyte membrane protein band 4.1-like 1							32.0	35.0	34.0					20																	34797717		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34797717G>T	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1976G>T	20.37:g.34797717G>T	ENSP00000337168:p.Arg659Leu					EPB41L1_uc002xeu.2_Missense_Mutation_p.R585L|EPB41L1_uc010zvo.1_Missense_Mutation_p.R659L|EPB41L1_uc002xev.2_Missense_Mutation_p.R659L|EPB41L1_uc002xew.2_Missense_Mutation_p.R550L|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Missense_Mutation_p.R585L|EPB41L1_uc010gfq.2_Missense_Mutation_p.R758L	p.R659L	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN			15	2147	+	Breast(12;0.0239)		659					O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.1976G>T	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602254	0.46423	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000344237;ENST00000338074;ENST00000373941	D;D;D;D;D	0.83837	-1.77;-1.68;-1.77;-1.75;-1.75	5.87	3.91	0.45181	.	0.193405	0.49916	D	0.000132	T	0.75228	0.3821	N	0.24115	0.695	0.33013	D	0.527767	B;D;B;B;B;B	0.59767	0.026;0.986;0.016;0.039;0.18;0.15	B;P;B;B;B;B	0.51355	0.011;0.667;0.007;0.029;0.028;0.049	T	0.77411	-0.2598	10	0.32370	T	0.25	-8.0653	6.2374	0.20770	0.3153:0.0:0.6847:0.0	.	659;948;659;550;550;585	B7Z653;E9PCJ3;Q9H4G0;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;.;E41L1_HUMAN;.;.;.	L	585;550;659;550;585;948;659;659	ENSP00000202028:R585L;ENSP00000363061:R550L;ENSP00000399214:R585L;ENSP00000337168:R659L;ENSP00000363052:R659L	ENSP00000202028:R585L	R	+	2	0	EPB41L1	34261131	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.031000	0.41117	1.616000	0.50265	0.655000	0.94253	CGG		PASS	0.637	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		40	60	40	60	---	---	---	---
KCNG1	3755	broad.mit.edu	37	20	49620725	49620725	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr20:49620725G>A	ENST00000371571.4	-	3	1678	c.1393C>T	c.(1393-1395)Cgc>Tgc	p.R465C	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'UTR	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	465				R -> P (in Ref. 1; AAC05635). {ECO:0000305}.	potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.R465C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AGGTAGGAGCGGGAGAAGGTG	0.622																																						uc002xwa.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1393-1395)CGC>TGC		potassium voltage-gated channel, subfamily G,							87.0	72.0	77.0					20																	49620725		2203	4300	6503	SO:0001583	missense	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49620725G>A	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.1393C>T	20.37:g.49620725G>A	ENSP00000360626:p.Arg465Cys						p.R465C	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN			3	1688	-			465	R -> P (in Ref. 1; AAC05635).		Cytoplasmic (Potential).		A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	c.1393C>T	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601631	0.87055	.	.	ENSG00000026559	ENST00000371571	D	0.98075	-4.7	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.98409	0.9471	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.98602	1.0659	9	.	.	.	.	19.337	0.94324	0.0:0.0:1.0:0.0	.	465	Q9UIX4	KCNG1_HUMAN	C	465	ENSP00000360626:R465C	.	R	-	1	0	KCNG1	49054132	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.874000	0.87199	2.574000	0.86865	0.456000	0.33151	CGC		PASS	0.622	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		58	99	58	99	---	---	---	---
BCAS1	8537	broad.mit.edu	37	20	52569971	52569971	+	Splice_Site	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr20:52569971C>A	ENST00000395961.3	-	11	1846	c.1680G>T	c.(1678-1680)ctG>ctT	p.L560L	BCAS1_ENST00000434986.2_Splice_Site_p.L226L|BCAS1_ENST00000371440.3_Splice_Site_p.L569L|BCAS1_ENST00000371435.2_Splice_Site_p.L482L	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	560						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.L560L(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			ATCCACCTACCAGGCCTTTAA	0.517																																						uc002xws.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1678-1680)CTG>CTT		breast carcinoma amplified sequence 1							67.0	69.0	68.0					20																	52569971		2203	4300	6503	SO:0001630	splice_region_variant	8537					cytoplasm	protein binding	g.chr20:52569971C>A	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1680+1G>T	20.37:g.52569971C>A						BCAS1_uc010zza.1_Silent_p.L226L|BCAS1_uc010zzb.1_Silent_p.L486L|BCAS1_uc010gim.2_Silent_p.L416L|BCAS1_uc002xwt.2_Silent_p.L546L|BCAS1_uc010gil.1_Silent_p.L482L	p.L560L	NM_003657	NP_003648	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		11	2018	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		560					A0AVG5|Q68CZ3	Silent	SNP	ENST00000395961.3	37	c.1680G>T	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485624	0.26686	.	.	ENSG00000064787	ENST00000422805	.	.	.	5.17	3.02	0.34903	.	.	.	.	.	T	0.55955	0.1953	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51317	-0.8721	4	.	.	.	-10.4949	7.273	0.26268	0.2181:0.6846:0.0:0.0973	.	.	.	.	L	223	.	.	W	-	2	0	BCAS1	52003378	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	0.510000	0.22723	1.173000	0.42796	0.555000	0.69702	TGG		PASS	0.517	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657	Silent	51	44	51	44	---	---	---	---
LAMA5	3911	broad.mit.edu	37	20	60889444	60889444	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr20:60889444A>T	ENST00000252999.3	-	62	8486	c.8420T>A	c.(8419-8421)gTg>gAg	p.V2807E		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2807	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.V2807E(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CAGCTGATACACCCAGTGCAC	0.632																																						uc002ycq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(8419-8421)GTG>GAG		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						113.0	93.0	99.0					20																	60889444		2201	4299	6500	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60889444A>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.8420T>A	20.37:g.60889444A>T	ENSP00000252999:p.Val2807Glu						p.V2807E	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		62	8487	-	Breast(26;1.57e-08)		2807			Laminin G-like 1.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.8420T>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	a	17.74	3.464872	0.63513	.	.	ENSG00000130702	ENST00000252999	T	0.77489	-1.1	3.88	3.88	0.44766	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.296417	0.31809	U	0.007027	D	0.87684	0.6239	M	0.84948	2.725	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	D	0.89242	0.3584	10	0.72032	D	0.01	.	12.35	0.55143	1.0:0.0:0.0:0.0	.	2807	O15230	LAMA5_HUMAN	E	2807	ENSP00000252999:V2807E	ENSP00000252999:V2807E	V	-	2	0	LAMA5	60322839	0.999000	0.42202	0.999000	0.59377	0.745000	0.42441	4.490000	0.60319	1.396000	0.46663	0.375000	0.23000	GTG		PASS	0.632	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		125	61	125	61	---	---	---	---
RBBP8NL	140893	broad.mit.edu	37	20	60988599	60988599	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr20:60988599G>C	ENST00000252998.1	-	11	1689	c.1533C>G	c.(1531-1533)gaC>gaG	p.D511E		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	511	Pro-rich.					extracellular space (GO:0005615)		p.D511E(1)									GGCGTGAGGGGTCCTGGGGGG	0.627																																						uc002ycw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1531-1533)GAC>GAG		hypothetical protein LOC140893							28.0	30.0	29.0					20																	60988599		2199	4297	6496	SO:0001583	missense	140893							g.chr20:60988599G>C	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"""hypothetical protein LOC140893"""		"""chromosome 20 open reading frame 151"""	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.1533C>G	20.37:g.60988599G>C	ENSP00000252998:p.Asp511Glu						p.D511E	NM_080833	NP_543023	Q8NC74	CT151_HUMAN	BRCA - Breast invasive adenocarcinoma(19;6.43e-06)		11	1690	-	Breast(26;2.05e-08)		511			Pro-rich.		B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Missense_Mutation	SNP	ENST00000252998.1	37	c.1533C>G	CCDS13498.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392239	0.25118	.	.	ENSG00000130701	ENST00000252998	T	0.22134	1.97	2.9	-5.46	0.02608	.	0.590258	0.14472	N	0.317511	T	0.10252	0.0251	L	0.52573	1.65	0.09310	N	1	B	0.21452	0.056	B	0.15484	0.013	T	0.45220	-0.9276	10	0.08179	T	0.78	-6.2539	0.7188	0.00937	0.225:0.1451:0.1905:0.4394	.	511	Q8NC74	CT151_HUMAN	E	511	ENSP00000252998:D511E	ENSP00000252998:D511E	D	-	3	2	C20orf151	60421994	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	-1.950000	0.01530	-1.304000	0.02329	0.561000	0.74099	GAC		PASS	0.627	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		23	82	23	82	---	---	---	---
COL9A3	1299	broad.mit.edu	37	20	61467648	61467648	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr20:61467648C>A	ENST00000343916.3	+	28	1514	c.1511C>A	c.(1510-1512)cCg>cAg	p.P504Q	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	504	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.P504Q(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CAGGGCGTCCCGGGTGTTCCT	0.657																																						uc002ydm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1510-1512)CCG>CAG		alpha 3 type IX collagen precursor							33.0	41.0	39.0					20																	61467648		2199	4300	6499	SO:0001583	missense	1299				axon guidance	collagen type IX		g.chr20:61467648C>A	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1511C>A	20.37:g.61467648C>A	ENSP00000341640:p.Pro504Gln					COL9A3_uc002ydn.2_5'Flank	p.P504Q	NM_001853	NP_001844	Q14050	CO9A3_HUMAN			28	1514	+	Breast(26;5.68e-08)		504			Triple-helical region 3 (COL3).		Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP	ENST00000343916.3	37	c.1511C>A	CCDS13505.1	.	.	.	.	.	.	.	.	.	.	C	2.211	-0.380759	0.05000	.	.	ENSG00000092758	ENST00000343916	D	0.96716	-4.1	4.63	-0.602	0.11634	.	0.192922	0.46758	N	0.000274	D	0.83473	0.5262	N	0.01789	-0.72	0.23487	N	0.997573	B	0.02656	0.0	B	0.04013	0.001	T	0.75393	-0.3333	10	0.09843	T	0.71	.	6.454	0.21920	0.4732:0.3794:0.1473:0.0	.	504	Q14050	CO9A3_HUMAN	Q	504	ENSP00000341640:P504Q	ENSP00000341640:P504Q	P	+	2	0	COL9A3	60938093	0.984000	0.35163	0.000000	0.03702	0.001000	0.01503	1.573000	0.36472	-0.457000	0.07033	-1.527000	0.00925	CCG		PASS	0.657	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		88	74	88	74	---	---	---	---
HELZ2	85441	broad.mit.edu	37	20	62198285	62198285	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr20:62198285T>A	ENST00000467148.1	-	6	2495	c.2426A>T	c.(2425-2427)gAg>gTg	p.E809V	HELZ2_ENST00000427522.2_Missense_Mutation_p.E240V	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	809	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E809V(1)									CTGCACCTTCTCGACGACCTG	0.667																																						uc002yfm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(2425-2427)GAG>GTG		PPAR-alpha interacting complex protein 285							57.0	52.0	54.0					20																	62198285		2201	4297	6498	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62198285T>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2426A>T	20.37:g.62198285T>A	ENSP00000417401:p.Glu809Val					PRIC285_uc002yfl.1_Missense_Mutation_p.E240V	p.E809V	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		7	3318	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		809					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.2426A>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.073871	0.55646	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.83419	-1.72;-1.72	5.13	4.01	0.46588	.	0.592628	0.17349	N	0.177446	D	0.88433	0.6435	M	0.78456	2.415	0.35278	D	0.7811	D;D	0.69078	0.997;0.992	D;P	0.63488	0.915;0.77	D	0.89408	0.3701	10	0.72032	D	0.01	-30.6167	6.8463	0.23990	0.0:0.0763:0.1529:0.7708	.	809;240	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	V	240;809	ENSP00000393257:E240V;ENSP00000417401:E809V	ENSP00000393257:E240V	E	-	2	0	RP4-697K14.7	61668729	1.000000	0.71417	0.971000	0.41717	0.299000	0.27559	3.399000	0.52586	0.782000	0.33613	0.459000	0.35465	GAG		PASS	0.667	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		57	75	57	75	---	---	---	---
TRAPPC10	7109	broad.mit.edu	37	21	45472274	45472274	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr21:45472274G>T	ENST00000291574.4	+	4	574	c.399G>T	c.(397-399)aaG>aaT	p.K133N	TRAPPC10_ENST00000380221.3_Missense_Mutation_p.K133N	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	133					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.K133N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ATGATGCCAAGAAAAAAAACA	0.358																																						uc002zea.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(397-399)AAG>AAT		trafficking protein particle complex 10																																				SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45472274G>T	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.399G>T	21.37:g.45472274G>T	ENSP00000291574:p.Lys133Asn					TRAPPC10_uc010gpo.2_5'UTR|TRAPPC10_uc002zdz.2_Missense_Mutation_p.K133N	p.K133N	NM_003274	NP_003265	P48553	TPC10_HUMAN			4	568	+			133					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.399G>T	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894140	0.72639	.	.	ENSG00000160218	ENST00000380221;ENST00000291574	T;T	0.31247	1.5;1.5	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.50154	0.1599	L	0.57536	1.79	0.80722	D	1	D;P	0.60575	0.988;0.952	D;P	0.63192	0.912;0.6	T	0.42515	-0.9447	10	0.36615	T	0.2	.	18.3812	0.90452	0.0:0.0:1.0:0.0	.	133;133	P48553;Q86SI7	TPC10_HUMAN;.	N	133	ENSP00000369570:K133N;ENSP00000291574:K133N	ENSP00000291574:K133N	K	+	3	2	TRAPPC10	44296702	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.559000	0.60796	2.401000	0.81631	0.591000	0.81541	AAG		PASS	0.358	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		72	15	72	15	---	---	---	---
PI4KA	5297	broad.mit.edu	37	22	21062353	21062353	+	Silent	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr22:21062353C>T	ENST00000572273.1	-	55	6347	c.6117G>A	c.(6115-6117)caG>caA	p.Q2039Q	PI4KA_ENST00000255882.6_Silent_p.Q2097Q|PI4KA_ENST00000414196.3_Silent_p.Q849Q			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	2039					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.Q2039Q(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGATGTCATTCTGATAGTACT	0.602																																					GBM(136;1332 1831 3115 23601 50806)	uc002zsz.3																			2	Substitution - coding silent(2)		lung(2)	lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4						c.(6115-6117)CAG>CAA		phosphatidylinositol 4-kinase type 3 alpha							195.0	167.0	177.0					22																	21062353		2203	4300	6503	SO:0001819	synonymous_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21062353C>T	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.6117G>A	22.37:g.21062353C>T						PI4KA_uc010gsp.2_Silent_p.Q430Q|PI4KA_uc002zsy.3_Silent_p.Q849Q	p.Q2039Q	NM_058004	NP_477352	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		55	6348	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	2039					Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37	c.6117G>A																																																																																					PASS	0.602	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		19	933	19	933	---	---	---	---
SLC7A4	6545	broad.mit.edu	37	22	21384302	21384302	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr22:21384302G>T	ENST00000382932.2	-	3	1388	c.1321C>A	c.(1321-1323)Cac>Aac	p.H441N	SLC7A4_ENST00000403586.1_Missense_Mutation_p.H441N|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	441					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)	p.H441N(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGCTGTAGGTGGTCTGAGAAG	0.647																																						uc002zud.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1321-1323)CAC>AAC		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						29.0	29.0	29.0					22																	21384302		2203	4300	6503	SO:0001583	missense	6545				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity	g.chr22:21384302G>T	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"""Solute carriers"""	11062	protein-coding gene	gene with protein product		603752	"""solute carrier family 7 (cationic amino acid transporter, y+ system), member 4"", ""solute carrier family 7 (orphan transporter), member 4"""			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.1321C>A	22.37:g.21384302G>T	ENSP00000372390:p.His441Asn					SLC7A4_uc002zue.2_Missense_Mutation_p.H441N	p.H441N	NM_004173	NP_004164	O43246	CTR4_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		3	1389	-	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	441					Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	ENST00000382932.2	37	c.1321C>A	CCDS33608.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483099	0.26598	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.84730	-1.89;-1.89	5.26	2.88	0.33553	.	0.262826	0.41396	D	0.000897	T	0.76499	0.3996	L	0.44542	1.39	0.30266	N	0.792746	B	0.14012	0.009	B	0.13407	0.009	T	0.64980	-0.6279	10	0.13470	T	0.59	.	10.6801	0.45809	0.0:0.0:0.4912:0.5087	.	441	O43246	CTR4_HUMAN	N	441	ENSP00000384278:H441N;ENSP00000372390:H441N	ENSP00000372390:H441N	H	-	1	0	SLC7A4	19714302	1.000000	0.71417	0.932000	0.37286	0.843000	0.47879	3.346000	0.52190	1.332000	0.45431	0.561000	0.74099	CAC		PASS	0.647	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173		17	184	17	184	---	---	---	---
IGLV2-8	28817	broad.mit.edu	37	22	23165763	23165763	+	RNA	SNP	T	T	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr22:23165763T>C	ENST00000390317.2	+	0	496				MIR650_ENST00000385101.1_RNA					immunoglobulin lambda variable 2-8																		CTGCAGCTCATATGCAGGCAG	0.532																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							128.0	125.0	126.0					22																	23165763		1931	4135	6066			96610							g.chr22:23165763T>C	X97462		22q11.2	2012-02-08			ENSG00000211671	ENSG00000278196		"""Immunoglobulins / IGL locus"""	5895	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151240		22.37:g.23165763T>C														287		+									RNA	SNP	ENST00000390317.2	37	c.13325T>C																																																																																					PASS	0.532	IGLV2-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321845.1	NG_000002		110	36	110	36	---	---	---	---
MTMR3	8897	broad.mit.edu	37	22	30416323	30416323	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr22:30416323G>A	ENST00000401950.2	+	17	3017	c.2675G>A	c.(2674-2676)aGg>aAg	p.R892K	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.R756K|MTMR3_ENST00000333027.3_Missense_Mutation_p.R892K|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000406629.1_Missense_Mutation_p.R892K|MTMR3_ENST00000351488.3_Missense_Mutation_p.R892K	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	892					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.R892K(1)		breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CTGGTCGAGAGGCCCCAAGTG	0.562																																						uc003agv.3																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.(2674-2676)AGG>AAG		myotubularin-related protein 3 isoform c							65.0	65.0	65.0					22																	30416323		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30416323G>A	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2675G>A	22.37:g.30416323G>A	ENSP00000384651:p.Arg892Lys					MTMR3_uc003agu.3_Missense_Mutation_p.R892K|MTMR3_uc003agw.3_Missense_Mutation_p.R892K	p.R892K	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	3003	+			892					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.2675G>A	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	G	4.174	0.030800	0.08101	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.92965	-2.94;-2.92;-3.14;-2.97;-2.92	5.19	4.18	0.49190	.	1.107780	0.06758	N	0.781336	D	0.85754	0.5770	L	0.27053	0.805	0.09310	N	1	P;P;P	0.42039	0.729;0.769;0.729	B;B;B	0.38264	0.269;0.253;0.269	T	0.75235	-0.3389	10	0.25751	T	0.34	.	7.1776	0.25753	0.0843:0.0:0.6534:0.2623	.	892;892;892	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	K	892;892;756;892;892	ENSP00000384651:R892K;ENSP00000331649:R892K;ENSP00000318070:R756K;ENSP00000307271:R892K;ENSP00000384077:R892K	ENSP00000318070:R756K	R	+	2	0	MTMR3	28746323	0.998000	0.40836	1.000000	0.80357	0.105000	0.19272	1.529000	0.35996	1.324000	0.45282	0.655000	0.94253	AGG		PASS	0.562	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		52	18	52	18	---	---	---	---
RFPL3	10738	broad.mit.edu	37	22	32756521	32756521	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr22:32756521G>A	ENST00000249007.4	+	2	861	c.656G>A	c.(655-657)aGt>aAt	p.S219N	RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000382088.3_Missense_Mutation_p.S190N|RFPL3S_ENST00000461833.1_5'Flank|RFPL3S_ENST00000400234.1_3'UTR|RFPL3_ENST00000397468.1_Missense_Mutation_p.S190N	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	219	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.S219N(1)|p.S190N(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						TGGACTGTGAGTTTGAGGGAT	0.537																																						uc003amj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(655-657)AGT>AAT		ret finger protein-like 3 isoform 1							96.0	95.0	95.0					22																	32756521		2203	4300	6503	SO:0001583	missense	10738						zinc ion binding	g.chr22:32756521G>A	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.656G>A	22.37:g.32756521G>A	ENSP00000249007:p.Ser219Asn					RFPL3_uc010gwn.2_Missense_Mutation_p.S190N|RFPL3S_uc003amk.2_RNA|RFPL3S_uc003aml.2_RNA	p.S219N	NM_001098535	NP_001092005	O75679	RFPL3_HUMAN			2	861	+			219			B30.2/SPRY.		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	ENST00000249007.4	37	c.656G>A	CCDS43011.1	.	.	.	.	.	.	.	.	.	.	G	9.896	1.205465	0.22205	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.69561	-0.41;-0.41;-0.41	1.36	-2.73	0.05950	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.71375	0.3332	M	0.83384	2.64	0.09310	N	1	P	0.52316	0.952	P	0.60236	0.871	T	0.59284	-0.7483	9	0.23302	T	0.38	.	0.3121	0.00290	0.344:0.1947:0.2665:0.1948	.	219	O75679	RFPL3_HUMAN	N	190;219;190	ENSP00000380609:S190N;ENSP00000249007:S219N;ENSP00000371520:S190N	ENSP00000249007:S219N	S	+	2	0	RFPL3	31086521	0.000000	0.05858	0.004000	0.12327	0.015000	0.08874	-1.899000	0.01600	-0.999000	0.03442	-1.054000	0.02325	AGT		PASS	0.537	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		70	7	70	7	---	---	---	---
MPST	4357	broad.mit.edu	37	22	37425399	37425399	+	Silent	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr22:37425399C>A	ENST00000397225.2	+	3	1653	c.738C>A	c.(736-738)gcC>gcA	p.A246A	MPST_ENST00000404393.1_3'UTR|MPST_ENST00000429360.2_Silent_p.A246A|MPST_ENST00000397129.1_Silent_p.A266A|MPST_ENST00000341116.3_Silent_p.A246A|MPST_ENST00000401419.3_Silent_p.A246A|MPST_ENST00000404802.3_Silent_p.A246A			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	246	Rhodanese 2. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cyanate catabolic process (GO:0009440)|hydrogen sulfide biosynthetic process (GO:0070814)|response to toxic substance (GO:0009636)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|neuron projection (GO:0043005)|synapse (GO:0045202)	3-mercaptopyruvate sulfurtransferase activity (GO:0016784)|thiosulfate sulfurtransferase activity (GO:0004792)	p.A246A(1)		central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						CACTGGTGGCCACGTGTGGCT	0.617																																						uc003aqj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(736-738)GCC>GCA		mercaptopyruvate sulfurtransferase isoform 2							59.0	49.0	52.0					22																	37425399		2203	4300	6503	SO:0001819	synonymous_variant	4357				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity	g.chr22:37425399C>A	X59434	CCDS13939.1	22q13.1	2010-04-27			ENSG00000128309	ENSG00000128309	2.8.1.2		7223	protein-coding gene	gene with protein product	"""human liver rhodanese"""	602496				1953758	Standard	NM_021126		Approved	MST, TST2	uc011amu.3	P25325	OTTHUMG00000150543	ENST00000397225.2:c.738C>A	22.37:g.37425399C>A						MPST_uc003aqi.1_3'UTR|MPST_uc003aqm.2_Silent_p.A246A|MPST_uc011amu.1_Silent_p.A266A|MPST_uc003aql.2_Silent_p.A246A|MPST_uc003aqn.2_3'UTR|MPST_uc003aqo.2_3'UTR	p.A246A	NM_001130517	NP_001123989	P25325	THTM_HUMAN			4	1150	+			246			Rhodanese 2.		A8MZ34|B3KP52|J3KPV7|O75750|Q6FHN9	Silent	SNP	ENST00000397225.2	37	c.738C>A	CCDS13939.1																																																																																				PASS	0.617	MPST-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318832.1	NM_001013440		31	4	31	4	---	---	---	---
SCUBE1	80274	broad.mit.edu	37	22	43604080	43604080	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr22:43604080T>C	ENST00000360835.4	-	20	2858	c.2732A>G	c.(2731-2733)gAt>gGt	p.D911G		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	911					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)	p.D911G(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GATCTTACCATCGTAGGTGAC	0.607																																						uc003bdt.1																			1	Substitution - Missense(1)	p.D911N(1)	lung(1)	central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5						c.(2731-2733)GAT>GGT		signal peptide, CUB domain, EGF-like 1							212.0	197.0	202.0					22																	43604080		2203	4300	6503	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43604080T>C		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2732A>G	22.37:g.43604080T>C	ENSP00000354080:p.Asp911Gly						p.D911G	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN			20	2820	-		all_neural(38;0.0414)|Ovarian(80;0.07)	911					Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.2732A>G	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.727048	0.48833	.	.	ENSG00000159307	ENST00000360835;ENST00000381243	D	0.86432	-2.12	3.76	3.76	0.43208	CUB (1);	0.000000	0.85682	D	0.000000	D	0.88036	0.6329	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89344	0.3656	10	0.72032	D	0.01	.	12.9257	0.58258	0.0:0.0:0.0:1.0	.	911	Q8IWY4	SCUB1_HUMAN	G	911;541	ENSP00000354080:D911G	ENSP00000354080:D911G	D	-	2	0	SCUBE1	41934024	1.000000	0.71417	0.744000	0.31058	0.048000	0.14542	7.767000	0.85331	1.708000	0.51301	0.260000	0.18958	GAT		PASS	0.607	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		25	145	25	145	---	---	---	---
CSF2RA	1438	broad.mit.edu	37	X	1409238	1409238	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chrX:1409238G>A	ENST00000381524.3	+	7	668	c.482G>A	c.(481-483)aGg>aAg	p.R161K	BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R161K|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R161K|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R161K|CSF2RA_ENST00000432318.2_Missense_Mutation_p.R161K|BX649553.4_ENST00000580687.1_RNA|CSF2RA_ENST00000381509.3_Missense_Mutation_p.R161K|CSF2RA_ENST00000501036.2_Missense_Mutation_p.R28K|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R161K|CSF2RA_ENST00000361536.3_Missense_Mutation_p.R161K|CSF2RA_ENST00000355805.2_Missense_Mutation_p.R161K			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	161					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.R161K(3)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AGGAGAAGGAGGGAGATCCGG	0.393																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	uc010nct.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(481-483)AGG>AAG		colony stimulating factor 2 receptor alpha chain	Sargramostim(DB00020)						209.0	203.0	205.0					X																	1409238		2203	4296	6499	SO:0001583	missense	1438					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1409238G>A	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.482G>A	X.37:g.1409238G>A	ENSP00000370935:p.Arg161Lys					CSF2RA_uc011mhb.1_Missense_Mutation_p.R161K|CSF2RA_uc004cpq.2_Missense_Mutation_p.R161K|CSF2RA_uc004cpn.2_Missense_Mutation_p.R161K|CSF2RA_uc004cpo.2_Missense_Mutation_p.R161K|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Missense_Mutation_p.R28K|CSF2RA_uc004cpp.2_Missense_Mutation_p.R161K|CSF2RA_uc010ncv.2_Missense_Mutation_p.R161K|CSF2RA_uc004cpr.2_Missense_Mutation_p.R161K	p.R161K	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN			8	804	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	161			Extracellular (Potential).		A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.482G>A	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	0.014	-1.581075	0.00879	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;D;D;D;D;D;D;D;D	0.95853	-3.83;-3.83;-1.61;-1.61;-3.83;-1.61;-1.61;-3.83;-1.61;-1.61;-3.83;-1.61	1.26	-2.51	0.06365	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Short hematopoietin receptor, family 2, conserved site (1);Immunoglobulin-like fold (1);	1.211120	0.06419	U	0.721973	D	0.85691	0.5755	.	.	.	0.09310	N	1	B;B;B;B;B;B	0.27559	0.181;0.0;0.033;0.018;0.074;0.09	B;B;B;B;B;B	0.19391	0.025;0.001;0.018;0.007;0.012;0.02	T	0.76683	-0.2869	9	0.12430	T	0.62	.	1.9547	0.03374	0.4317:0.0:0.3022:0.2661	.	161;161;161;161;161;161	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	K	161;161;161;161;28;161;161;161;161;161;161;161;161	ENSP00000370940:R161K;ENSP00000416437:R161K;ENSP00000354836:R161K;ENSP00000440491:R28K;ENSP00000370935:R161K;ENSP00000410667:R161K;ENSP00000397452:R161K;ENSP00000370920:R161K;ENSP00000348058:R161K;ENSP00000347606:R161K;ENSP00000394227:R161K;ENSP00000370911:R161K	ENSP00000347606:R161K	R	+	2	0	CSF2RA	1369238	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.719000	0.04974	-0.827000	0.04278	-0.799000	0.03217	AGG		PASS	0.393	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			29	61	29	61	---	---	---	---
P2RY8	286530	broad.mit.edu	37	X	1585160	1585160	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chrX:1585160C>A	ENST00000381297.4	-	2	502	c.292G>T	c.(292-294)Gtg>Ttg	p.V98L	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.V98L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACGGTCACCACGTTGCAAAGC	0.572			T	CRLF2	"""B-ALL, Downs associated ALL"""																																	uc004cpz.2				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""			L	CRLF2		B-ALL|Downs associated ALL		1	Substitution - Missense(1)		lung(1)	lung(5)	5						c.(292-294)GTG>TTG		G-protein coupled purinergic receptor P2Y8							176.0	160.0	165.0					X																	1585160		2203	4296	6499	SO:0001583	missense	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1585160C>A	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.292G>T	X.37:g.1585160C>A	ENSP00000370697:p.Val98Leu						p.V98L	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN			2	540	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	98			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000381297.4	37	c.292G>T	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	c	1.285	-0.609304	0.03690	.	.	ENSG00000182162	ENST00000381297	T	0.35421	1.31	2.26	1.28	0.21552	GPCR, rhodopsin-like superfamily (1);	0.669254	0.13161	U	0.409060	T	0.11580	0.0282	N	0.02334	-0.595	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.34229	-0.9837	10	0.09084	T	0.74	.	5.0707	0.14606	0.1525:0.2673:0.5802:0.0	.	98	Q86VZ1	P2RY8_HUMAN	L	98	ENSP00000370697:V98L	ENSP00000370697:V98L	V	-	1	0	P2RY8	1545160	0.888000	0.30383	0.504000	0.27639	0.077000	0.17291	0.068000	0.14531	0.740000	0.32651	0.279000	0.19357	GTG		PASS	0.572	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		20	10	20	10	---	---	---	---
STS	412	broad.mit.edu	37	X	7177575	7177575	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chrX:7177575G>A	ENST00000217961.4	+	5	803	c.583G>A	c.(583-585)Gtc>Atc	p.V195I		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	195					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)	p.V195I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	GATCGTCGGGGTCACCCTCCT	0.562									Ichthyosis																													uc004cry.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(583-585)GTC>ATC		steryl-sulfatase precursor	Estrone(DB00655)						101.0	69.0	80.0					X																	7177575		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7177575G>A	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.583G>A	X.37:g.7177575G>A	ENSP00000217961:p.Val195Ile						p.V195I	NM_000351	NP_000342	P08842	STS_HUMAN			5	828	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	195			Helical.		B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.583G>A	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	3.151	-0.174255	0.06421	.	.	ENSG00000101846	ENST00000217961	D	0.93859	-3.3	3.84	-7.68	0.01268	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	1.263320	0.05524	N	0.562696	T	0.81564	0.4849	N	0.11023	0.085	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.72398	-0.4306	10	0.11182	T	0.66	.	8.3771	0.32449	0.2872:0.3495:0.3633:0.0	.	195	P08842	STS_HUMAN	I	195	ENSP00000217961:V195I	ENSP00000217961:V195I	V	+	1	0	STS	7187575	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-1.671000	0.01954	-2.731000	0.00384	-0.269000	0.10298	GTC		PASS	0.562	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		4	67	4	67	---	---	---	---
ARHGAP6	395	broad.mit.edu	37	X	11682385	11682385	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chrX:11682385G>T	ENST00000337414.4	-	1	1436	c.564C>A	c.(562-564)caC>caA	p.H188Q	ARHGAP6_ENST00000380732.3_Missense_Mutation_p.H188Q|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.H188Q	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	188					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.H188Q(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CGACGTAGGGGTGCCCGCGAC	0.637																																						uc004cup.1																			1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|lung(1)	2						c.(562-564)CAC>CAA		Rho GTPase activating protein 6 isoform 1							24.0	25.0	25.0					X																	11682385		2202	4300	6502	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11682385G>T	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.564C>A	X.37:g.11682385G>T	ENSP00000338967:p.His188Gln					ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.H188Q	p.H188Q	NM_013427	NP_038286	O43182	RHG06_HUMAN			1	1437	-			188					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.564C>A	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	G	6.936	0.542504	0.13250	.	.	ENSG00000047648	ENST00000337414;ENST00000380718;ENST00000380732	T;T;T	0.50001	1.98;1.89;0.76	4.63	-1.16	0.09678	.	.	.	.	.	T	0.23289	0.0563	N	0.24115	0.695	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.13926	-1.0491	9	0.12430	T	0.62	.	2.5795	0.04815	0.0959:0.2497:0.1831:0.4714	.	188;188	O43182-2;O43182	.;RHG06_HUMAN	Q	188	ENSP00000338967:H188Q;ENSP00000370094:H188Q;ENSP00000370108:H188Q	ENSP00000338967:H188Q	H	-	3	2	ARHGAP6	11592306	0.979000	0.34478	0.721000	0.30653	0.057000	0.15508	0.375000	0.20518	-0.232000	0.09811	-0.318000	0.08688	CAC		PASS	0.637	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		30	5	30	5	---	---	---	---
TXLNG	55787	broad.mit.edu	37	X	16836853	16836853	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chrX:16836853G>C	ENST00000380122.5	+	2	320	c.259G>C	c.(259-261)Gac>Cac	p.D87H	TXLNG_ENST00000398155.4_Intron	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	87					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)	p.D87H(1)		breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						TGAAGGCAGTGACTTTATAAC	0.438																																						uc004cxq.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(259-261)GAC>CAC		gamma-taxilin							143.0	129.0	134.0					X																	16836853		2203	4300	6503	SO:0001583	missense	55787				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane		g.chrX:16836853G>C	AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"""lipopolysaccharide specific response-5 protein"", ""factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"""	300677	"""chromosome X open reading frame 15"""	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.259G>C	X.37:g.16836853G>C	ENSP00000369465:p.Asp87His					TXLNG_uc010ney.1_Intron	p.D87H	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN			2	310	+			87					Q2KQ75|Q5JNZ7|Q9P0X1	Missense_Mutation	SNP	ENST00000380122.5	37	c.259G>C	CCDS14178.1	.	.	.	.	.	.	.	.	.	.	g	13.18	2.160625	0.38119	.	.	ENSG00000086712	ENST00000380122	T	0.39056	1.1	4.93	1.68	0.24146	.	0.501010	0.20530	N	0.090521	T	0.32194	0.0821	L	0.48642	1.525	0.80722	D	1	P	0.43287	0.802	B	0.38562	0.276	T	0.05550	-1.0878	10	0.46703	T	0.11	-6.6441	8.4829	0.33054	0.3361:0.0:0.6639:0.0	.	87	Q9NUQ3	TXLNG_HUMAN	H	87	ENSP00000369465:D87H	ENSP00000369465:D87H	D	+	1	0	TXLNG	16746774	1.000000	0.71417	0.937000	0.37676	0.951000	0.60555	0.416000	0.21198	0.337000	0.23665	0.417000	0.27973	GAC		PASS	0.438	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055912.1	NM_018360		67	2	67	2	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73066592	73066592	+	lincRNA	SNP	C	C	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chrX:73066592C>A	ENST00000429829.1	-	0	5996					NR_001564.2				X inactive specific transcript (non-protein coding)																		AGAAATGGGGCCTTAGGTGTC	0.453																																						uc004ebm.1																			0					0								Homo sapiens cDNA: FLJ21545 fis, clone COL06195.							103.0	91.0	95.0					X																	73066592		876	1991	2867			7503							g.chrX:73066592C>A	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73066592C>A								NR_001564						1		-									RNA	SNP	ENST00000429829.1	37	c.5997G>T																																																																																					PASS	0.453	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		12	3	12	3	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91132465	91132465	+	Missense_Mutation	SNP	G	G	T	rs368343925		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chrX:91132465G>T	ENST00000373094.1	+	2	2071	c.1226G>T	c.(1225-1227)aGg>aTg	p.R409M	PCDH11X_ENST00000298274.8_Missense_Mutation_p.R409M|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R409M|PCDH11X_ENST00000504220.2_Missense_Mutation_p.R409M|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R409M|PCDH11X_ENST00000361655.2_Missense_Mutation_p.R409M|PCDH11X_ENST00000361724.1_Missense_Mutation_p.R409M|PCDH11X_ENST00000373097.1_Missense_Mutation_p.R409M|PCDH11X_ENST00000395337.2_Missense_Mutation_p.R409M	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	409	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R409M(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TTCAGATTAAGGCCAGTATTC	0.438																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(1225-1227)AGG>ATG		protocadherin 11 X-linked isoform c							184.0	152.0	163.0					X																	91132465		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132465G>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1226G>T	X.37:g.91132465G>T	ENSP00000362186:p.Arg409Met					PCDH11X_uc004efl.1_Missense_Mutation_p.R409M|PCDH11X_uc004efo.1_Missense_Mutation_p.R409M|PCDH11X_uc010nmv.1_Missense_Mutation_p.R409M|PCDH11X_uc004efm.1_Missense_Mutation_p.R409M|PCDH11X_uc004efn.1_Missense_Mutation_p.R409M|PCDH11X_uc004efh.1_Missense_Mutation_p.R409M|PCDH11X_uc004efj.1_Missense_Mutation_p.R409M	p.R409M	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	2071	+			409			Cadherin 4.|Extracellular (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1226G>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.764997	0.49574	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28;0.28;0.28;0.28;0.28	5.16	4.29	0.51040	Cadherin (4);Cadherin-like (1);	0.050153	0.85682	D	0.000000	T	0.63792	0.2541	L	0.45470	1.425	0.39520	D	0.968492	D;D;D;D;D;D;D;D	0.69078	0.991;0.975;0.997;0.997;0.997;0.997;0.991;0.991	D;P;D;D;D;D;D;D	0.73708	0.944;0.854;0.967;0.967;0.967;0.981;0.944;0.944	T	0.67597	-0.5630	10	0.87932	D	0	.	4.9297	0.13910	0.3065:0.0:0.6935:0.0	.	409;409;409;409;409;409;409;409	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	M	409	ENSP00000378746:R409M;ENSP00000362186:R409M;ENSP00000362189:R409M;ENSP00000355040:R409M;ENSP00000362180:R409M;ENSP00000423762:R409M;ENSP00000355105:R409M;ENSP00000384758:R409M;ENSP00000298274:R409M	ENSP00000298274:R409M	R	+	2	0	PCDH11X	91019121	1.000000	0.71417	0.974000	0.42286	0.953000	0.61014	7.073000	0.76784	2.115000	0.64714	0.544000	0.68410	AGG		PASS	0.438	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		27	11	27	11	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135429119	135429119	+	Missense_Mutation	SNP	T	T	G	rs142623843		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chrX:135429119T>G	ENST00000394143.1	+	6	3545	c.3254T>G	c.(3253-3255)aTt>aGt	p.I1085S	GPR112_ENST00000412101.1_Missense_Mutation_p.I880S|GPR112_ENST00000287534.4_Missense_Mutation_p.I1022S|GPR112_ENST00000394141.1_Missense_Mutation_p.I880S|GPR112_ENST00000370652.1_Missense_Mutation_p.I1085S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1085					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.I1085S(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)					GGAGACTTGATTCGTACCACT	0.458													T|||	1	0.000264901	0.0008	0.0	3775	,	,		18028	0.0		0.0	False		,,,				2504	0.0					uc004ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(3253-3255)ATT>AGT		G-protein coupled receptor 112		T	SER/ILE	5,3830		0,5,1627,571	219.0	199.0	206.0		3254	1.5	0.0	X	dbSNP_134	206	0,6728		0,0,2428,1872	yes	missense	GPR112	NM_153834.3	142	0,5,4055,2443	GG,GT,TT,T		0.0,0.1304,0.0473	possibly-damaging	1085/3081	135429119	5,10558	2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429119T>G	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.3254T>G	X.37:g.135429119T>G	ENSP00000377699:p.Ile1085Ser					GPR112_uc010nsb.1_Missense_Mutation_p.I880S|GPR112_uc010nsc.1_Missense_Mutation_p.I852S	p.I1085S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	3545	+	Acute lymphoblastic leukemia(192;0.000127)		1085			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.3254T>G	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.940518	0.34283	0.001304	0.0	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.32753	1.48;1.48;1.44;1.58;1.44	2.82	1.5	0.22942	.	.	.	.	.	T	0.20373	0.0490	N	0.24115	0.695	0.09310	N	1	P;P;P	0.52316	0.952;0.718;0.596	B;B;B	0.44315	0.446;0.201;0.099	T	0.11542	-1.0583	9	0.87932	D	0	.	4.3247	0.11034	0.0:0.228:0.0:0.772	.	1022;880;1085	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	S	1085;1085;880;1022;880	ENSP00000377699:I1085S;ENSP00000359686:I1085S;ENSP00000416526:I880S;ENSP00000287534:I1022S;ENSP00000377697:I880S	ENSP00000287534:I1022S	I	+	2	0	GPR112	135256785	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	-0.101000	0.10973	0.130000	0.18549	0.356000	0.21956	ATT		PASS	0.458	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			4	207	4	207	---	---	---	---
ARHGEF6	9459	broad.mit.edu	37	X	135825761	135825761	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chrX:135825761C>T	ENST00000250617.6	-	5	1849	c.644G>A	c.(643-645)cGt>cAt	p.R215H	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.R61H|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.R61H|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.R61H	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	215	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R215H(2)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TTTAATTTCACGGACATAATT	0.388																																						uc004fab.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(643-645)CGT>CAT		Rac/Cdc42 guanine nucleotide exchange factor 6							138.0	121.0	127.0					X																	135825761		2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135825761C>T	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.644G>A	X.37:g.135825761C>T	ENSP00000250617:p.Arg215His					ARHGEF6_uc011mwd.1_Missense_Mutation_p.R61H|ARHGEF6_uc011mwe.1_Missense_Mutation_p.R61H	p.R215H	NM_004840	NP_004831	Q15052	ARHG6_HUMAN			5	1106	-	Acute lymphoblastic leukemia(192;0.000127)		215			SH3.		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.644G>A	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179099	0.78564	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.74	5.74	0.90152	Src homology-3 domain (4);Variant SH3 (1);	0.052346	0.64402	D	0.000001	T	0.42921	0.1224	L	0.38692	1.165	0.49389	D	0.999783	D;D	0.89917	0.999;1.0	D;D	0.76575	0.953;0.988	T	0.37619	-0.9698	10	0.87932	D	0	.	9.4726	0.38851	0.0:0.8403:0.0:0.1597	.	61;215	B7Z3C7;Q15052	.;ARHG6_HUMAN	H	215;61;61;61;61	ENSP00000250617:R215H;ENSP00000359654:R61H;ENSP00000359656:R61H;ENSP00000439483:R61H	ENSP00000250617:R215H	R	-	2	0	ARHGEF6	135653427	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	4.069000	0.57541	2.395000	0.81488	0.600000	0.82982	CGT		PASS	0.388	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		64	11	64	11	---	---	---	---
MIR892A	100126342	broad.mit.edu	37	X	145075811	145075811	+	RNA	SNP	G	G	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chrX:145075811G>A	ENST00000401124.1	-	0	75				MIR890_ENST00000401256.1_RNA|MIR892B_ENST00000401279.1_RNA|hsa-mir-892c_ENST00000516410.1_RNA|MIR888_ENST00000401186.1_RNA	NR_030584.1				microRNA 892a																		ACTCTACTCAGAAAGGGAATA	0.483																																						hsa-mir-890|MI0005533																			0					0															158.0	129.0	138.0					X																	145075811		1568	3582	5150			100126303							g.chrX:145075811G>A			Xq27.3	2011-09-12		2008-12-18	ENSG00000215943	ENSG00000215943		"""ncRNAs / Micro RNAs"""	33639	non-coding RNA	RNA, micro				MIRN892A			Standard	NR_030584		Approved	hsa-mir-892a	uc022cfq.1				X.37:g.145075811G>A																-									RNA	SNP	ENST00000401124.1	37	c.59G>A																																																																																					PASS	0.483	MIR892A-201	KNOWN	basic	miRNA	miRNA		NR_030584		51	3	51	3	---	---	---	---
ZNF185	7739	broad.mit.edu	37	X	152087616	152087616	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chrX:152087616A>G	ENST00000370268.4	+	7	558	c.521A>G	c.(520-522)cAg>cGg	p.Q174R	ZNF185_ENST00000318529.8_Missense_Mutation_p.Q39R|ZNF185_ENST00000318504.7_Missense_Mutation_p.Q174R|ZNF185_ENST00000449285.2_Missense_Mutation_p.Q174R|ZNF185_ENST00000324823.6_Missense_Mutation_p.Q39R|ZNF185_ENST00000535861.1_Missense_Mutation_p.Q174R|ZNF185_ENST00000539731.1_Missense_Mutation_p.Q174R|ZNF185_ENST00000370270.2_Missense_Mutation_p.Q174R			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	174						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.Q34R(1)|p.Q174R(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGATGAACAGAAACGGAGG	0.567																																						uc010ntv.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(520-522)CAG>CGG		zinc finger protein 185							56.0	55.0	55.0					X																	152087616		2017	4137	6154	SO:0001583	missense	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152087616A>G	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.521A>G	X.37:g.152087616A>G	ENSP00000359291:p.Gln174Arg					ZNF185_uc011myg.1_Missense_Mutation_p.Q174R|ZNF185_uc011myh.1_Missense_Mutation_p.Q174R|ZNF185_uc011myi.1_Missense_Mutation_p.Q174R|ZNF185_uc011myj.1_Missense_Mutation_p.Q174R|ZNF185_uc011myk.1_Missense_Mutation_p.Q174R|ZNF185_uc004fgw.3_Missense_Mutation_p.Q39R|ZNF185_uc004fgu.2_5'UTR|ZNF185_uc004fgv.2_5'Flank	p.Q174R	NM_007150	NP_009081	O15231	ZN185_HUMAN			7	558	+	Acute lymphoblastic leukemia(192;6.56e-05)		174					A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	ENST00000370268.4	37	c.521A>G	CCDS48184.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.793592	0.50102	.	.	ENSG00000147394	ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000535156;ENST00000324823;ENST00000433245;ENST00000370268;ENST00000318529;ENST00000370270	T;T;T;T;T	0.52295	0.68;0.68;0.68;0.67;0.7	4.83	4.83	0.62350	.	.	.	.	.	T	0.60418	0.2267	L	0.58101	1.795	0.21184	N	0.999762	D;D;D;D;D;D;D	0.76494	0.997;0.999;0.996;0.999;0.999;0.997;0.996	D;D;D;D;D;D;D	0.78314	0.949;0.962;0.991;0.981;0.981;0.973;0.986	T	0.50432	-0.8829	9	0.20046	T	0.44	-12.2284	10.1893	0.43017	1.0:0.0:0.0:0.0	.	174;174;174;174;174;174;39	O15231-3;B8K2L9;B8K2M0;F5GZL4;F5GXF7;O15231;F8W8V7	.;.;.;.;.;ZN185_HUMAN;.	R	174;174;174;174;39;39;39;174;39;34	ENSP00000440847:Q174R;ENSP00000444367:Q174R;ENSP00000395228:Q174R;ENSP00000312782:Q174R;ENSP00000359291:Q174R	ENSP00000312782:Q174R	Q	+	2	0	ZNF185	151838272	1.000000	0.71417	1.000000	0.80357	0.344000	0.29017	2.743000	0.47442	1.868000	0.54150	0.430000	0.28490	CAG		PASS	0.567	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		29	1	29	1	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153578190	153578190	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chrX:153578190C>T	ENST00000369850.3	-	46	7615	c.7379G>A	c.(7378-7380)gGt>gAt	p.G2460D	FLNA_ENST00000422373.1_Missense_Mutation_p.G2452D|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000360319.4_Missense_Mutation_p.G2452D|FLNA_ENST00000369856.3_Missense_Mutation_p.G593D|FLNA_ENST00000344736.4_Missense_Mutation_p.G2420D	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2460					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.G2460D(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGACAGGGCACCAGCTCCCGC	0.642											OREG0003592	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc004fkk.2																			1	Substitution - Missense(1)		lung(1)	breast(6)	6						c.(7378-7380)GGT>GAT		filamin A, alpha isoform 2							41.0	40.0	41.0					X																	153578190		2080	4180	6260	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153578190C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.7379G>A	X.37:g.153578190C>T	ENSP00000358866:p.Gly2460Asp		OREG0003592	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1756	FLNA_uc004fki.2_Missense_Mutation_p.G500D|FLNA_uc011mzn.1_Missense_Mutation_p.G593D|FLNA_uc010nuu.1_Missense_Mutation_p.G2452D	p.G2460D	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			46	7628	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		2460			Filamin 23.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.7379G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631860	0.67015	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89	5.43	5.43	0.79202	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93070	0.7794	M	0.83012	2.62	0.58432	D	0.999994	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	0.94001	0.7275	10	0.87932	D	0	.	18.306	0.90182	0.0:1.0:0.0:0.0	.	593;2452;2460;2460	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	D	2452;2128;2452;2460;593;2420	ENSP00000353467:G2452D;ENSP00000416926:G2452D;ENSP00000358866:G2460D;ENSP00000358872:G593D;ENSP00000358863:G2420D	ENSP00000358863:G2420D	G	-	2	0	FLNA	153231384	1.000000	0.71417	0.950000	0.38849	0.565000	0.35776	7.747000	0.85070	2.262000	0.75019	0.429000	0.28392	GGT		PASS	0.642	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			3	39	3	39	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27094376	27094376	+	Frame_Shift_Del	DEL	G	G	-	rs147183988		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:27094376delG	ENST00000324856.7	+	11	3455	c.3084delG	c.(3082-3084)ctgfs	p.L1028fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.L1028fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.L645fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1028	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACCGTTATCTGGCCTTCACTG	0.502			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1				Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(3082-3084)CTGfs		AT rich interactive domain 1A isoform a							220.0	179.0	193.0					1																	27094376		2203	4300	6503	SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27094376delG	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3084delG	1.37:g.27094376delG	ENSP00000320485:p.Leu1028fs					ARID1A_uc001bmt.1_Frame_Shift_Del_p.L1028fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.L1028fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.L645fs	p.L1028fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	11	3457	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1028			ARID.		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.3084delG	CCDS285.1																																																																																					0.502	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		20	99	20	99	---	---	---	---
EN1	2019	broad.mit.edu	37	2	119604502	119604502	+	Frame_Shift_Del	DEL	G	G	-			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:119604502delG	ENST00000295206.6	-	1	752	c.242delC	c.(241-243)ccgfs	p.P83fs	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	83					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						CTGAggcggcgggggcggggg	0.756																																						uc002tlm.2																			0				large_intestine(1)|lung(1)	2						c.(241-243)CCGfs		engrailed homeobox 1							7.0	9.0	8.0					2																	119604502		1385	2893	4278	SO:0001589	frameshift_variant	2019				skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:119604502delG	L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"""Homeoboxes / ANTP class : NKL subclass"""	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.242delC	2.37:g.119604502delG	ENSP00000295206:p.Pro83fs						p.P81fs	NM_001426	NP_001417	Q05925	HME1_HUMAN			1	1258	-			81					Q4ZG44	Frame_Shift_Del	DEL	ENST00000295206.6	37	c.242delC	CCDS2123.1																																																																																					0.756	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254191.3			12	23	12	23	---	---	---	---
ASIC5	51802	broad.mit.edu	37	4	156784654	156784657	+	Frame_Shift_Del	DEL	ACCT	ACCT	-			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr4:156784654_156784657delACCT	ENST00000537611.2	-	2	336_339	c.290_293delAGGT	c.(289-294)gaggttfs	p.EV97fs	TDO2_ENST00000506181.1_Intron	NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	97					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										CACATATTGAACCTCAATGGACGT	0.392																																						uc003ipe.1																			0				ovary(2)|skin(1)	3						c.(289-294)GAGGTTfs		amiloride-sensitive cation channel 5,																																				SO:0001589	frameshift_variant	51802					integral to membrane|plasma membrane		g.chr4:156784654_156784657delACCT	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.290_293delAGGT	4.37:g.156784654_156784657delACCT	ENSP00000442477:p.Glu97fs						p.E97fs	NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)	2	337_340	-	all_hematologic(180;0.24)	Renal(120;0.0458)	97_98			Extracellular (Potential).			Frame_Shift_Del	DEL	ENST00000537611.2	37	c.290_293delAGGT	CCDS3793.1																																																																																					0.392	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			17	13	17	13	---	---	---	---
HIST1H2BG	8339	broad.mit.edu	37	6	26216792	26216795	+	Frame_Shift_Del	DEL	CCAT	CCAT	-			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:26216792_26216795delCCAT	ENST00000244601.3	-	1	77_80	c.77_80delATGG	c.(76-81)gatggcfs	p.DG26fs	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	26					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)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				GCGCTTCTTGCCATCCTTCTTCTG	0.52																																						uc003ngz.2																			0				ovary(1)	1						c.(76-81)GATGGCfs		histone cluster 1, H2bg																																				SO:0001589	frameshift_variant	8339				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26216792_26216795delCCAT	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.77_80delATGG	6.37:g.26216792_26216795delCCAT	ENSP00000244601:p.Asp26fs					HIST1H2AE_uc003nha.1_5'Flank	p.D26fs	NM_003518	NP_003509	P62807	H2B1C_HUMAN			1	78_81	-		all_hematologic(11;0.196)	26_27					P02278|Q3B872|Q4VB69|Q93078|Q93080	Frame_Shift_Del	DEL	ENST00000244601.3	37	c.77_80delATGG	CCDS4594.1																																																																																					0.520	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		194	94	194	94	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139164259	139164259	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:139164259delC	ENST00000395297.1	-	13	2629	c.2459delG	c.(2458-2460)ggafs	p.G820fs		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	820										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)			AGCATCTGTTCCAGAGTCACC	0.517										HNSCC(54;0.14)																												uc003yuy.2																			0				ovary(7)|skin(2)	9						c.(2458-2460)GGAfs		hypothetical protein LOC51059							76.0	72.0	73.0					8																	139164259		2203	4300	6503	SO:0001589	frameshift_variant	51059							g.chr8:139164259delC	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.2459delG	8.37:g.139164259delC	ENSP00000378710:p.Gly820fs	HNSCC(54;0.14)				FAM135B_uc003yux.2_Frame_Shift_Del_p.G721fs|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Frame_Shift_Del_p.G382fs|FAM135B_uc003yvb.2_Frame_Shift_Del_p.G382fs	p.G820fs	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2630	-	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)		820					B5MDB3|O95879|Q2WGJ7|Q3KP46	Frame_Shift_Del	DEL	ENST00000395297.1	37	c.2459delG	CCDS6375.2																																																																																					0.517	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		79	43	79	43	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139402411	139402424	+	Frame_Shift_Del	DEL	CAGGAGTAGCCGCC	CAGGAGTAGCCGCC	-	rs375190395		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr9:139402411_139402424delCAGGAGTAGCCGCC	ENST00000277541.6	-	21	3568_3581	c.3493_3506delGGCGGCTACTCCTG	c.(3493-3507)ggcggctactcctgcfs	p.GGYSC1165fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1165	EGF-like 30. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G1165D(1)|p.G1166D(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCCCACCTTGCAGGAGTAGCCGCCCAGGTAGTCC	0.664			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2				Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Missense(2)		central_nervous_system(2)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(3493-3507)GGCGGCTACTCCTGCfs		notch1 preproprotein																																				SO:0001589	frameshift_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139402411_139402424delCAGGAGTAGCCGCC	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3493_3506delGGCGGCTACTCCTG	9.37:g.139402411_139402424delCAGGAGTAGCCGCC	ENSP00000277541:p.Gly1165fs	HNSCC(8;0.001)				NOTCH1_uc004cia.1_Frame_Shift_Del_p.G395fs	p.G1165fs	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	21	3493_3506	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1165_1169			Extracellular (Potential).|EGF-like 30.		Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	ENST00000277541.6	37	c.3493_3506delGGCGGCTACTCCTG	CCDS43905.1																																																																																					0.664	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		31	20	31	20	---	---	---	---
LRRIQ1	84125	broad.mit.edu	37	12	85449549	85449549	+	Frame_Shift_Del	DEL	A	A	-			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:85449549delA	ENST00000393217.2	+	8	1039	c.978delA	c.(976-978)gcafs	p.A326fs		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	326	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		aaaaggaagcaaaaatacgac	0.333																																						uc001tac.2																			0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(976-978)GCAfs		leucine-rich repeats and IQ motif containing 1							27.0	27.0	27.0					12																	85449549		2199	4284	6483	SO:0001589	frameshift_variant	84125							g.chr12:85449549delA	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.978delA	12.37:g.85449549delA	ENSP00000376910:p.Ala326fs					LRRIQ1_uc001tab.1_Frame_Shift_Del_p.A326fs|LRRIQ1_uc001taa.1_Frame_Shift_Del_p.A301fs	p.A326fs	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	1089	+			326			Glu-rich.		Q567P4|Q9BS17|Q9HA36	Frame_Shift_Del	DEL	ENST00000393217.2	37	c.978delA	CCDS41816.1																																																																																					0.333	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		4	2	4	2	---	---	---	---
PCCA	5095	broad.mit.edu	37	13	100741426	100741439	+	Frame_Shift_Del	DEL	GGGCGGTGGCCGCC	GGGCGGTGGCCGCC	-	rs369743452		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr13:100741426_100741439delGGGCGGTGGCCGCC	ENST00000376285.1	+	1	90_103	c.52_65delGGGCGGTGGCCGCC	c.(52-66)gggcggtggccgccgfs	p.GRWPP18fs	PCCA_ENST00000376286.4_Frame_Shift_Del_p.GRWPP18fs|PCCA_ENST00000376279.3_Frame_Shift_Del_p.GRWPP18fs	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	18					biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	CGGACGGCGTGGGCGGTGGCCGCCGCAGCAGCTG	0.72																																						uc001voo.2																			0				skin(2)	2						c.(52-66)GGGCGGTGGCCGCCGfs		propionyl-Coenzyme A carboxylase, alpha	Biotin(DB00121)																																			SO:0001589	frameshift_variant	5095				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:100741426_100741439delGGGCGGTGGCCGCC	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.52_65delGGGCGGTGGCCGCC	13.37:g.100741426_100741439delGGGCGGTGGCCGCC	ENSP00000365462:p.Gly18fs					PCCA_uc010aga.2_Frame_Shift_Del_p.G18fs|PCCA_uc010tiz.1_Frame_Shift_Del_p.G18fs	p.G18fs	NM_000282	NP_000273	P05165	PCCA_HUMAN			1	90_103	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		18_22					B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Frame_Shift_Del	DEL	ENST00000376285.1	37	c.52_65delGGGCGGTGGCCGCC	CCDS9496.2																																																																																					0.720	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			6	3	6	3	---	---	---	---
ATP4A	495	broad.mit.edu	37	19	36050805	36050806	+	Frame_Shift_Ins	INS	-	-	A	rs375458988		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:36050805_36050806insA	ENST00000262623.3	-	7	985_986	c.957_958insT	c.(955-960)attgtgfs	p.V320fs		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	320					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)	p.V320L(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CACATGGCCACAATAAAAAATG	0.559																																						uc002oal.1																			1	Substitution - Missense(1)		breast(1)	ovary(1)	1						c.(955-960)ATTGTGfs		hydrogen/potassium-exchanging ATPase 4A	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)																																			SO:0001589	frameshift_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36050805_36050806insA		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.958dupT	19.37:g.36050807_36050807dupA	ENSP00000262623:p.Val320fs					ATP4A_uc010eee.1_5'Flank	p.I319fs	NM_000704	NP_000695	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		7	986_987	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		319_320			Lumenal (Potential).		O00738	Frame_Shift_Ins	INS	ENST00000262623.3	37	c.957_958insT	CCDS12467.1																																																																																					0.559	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		61	45	61	45	---	---	---	---
ARHGAP35	2909	broad.mit.edu	37	19	47503775	47503775	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:47503775delC	ENST00000404338.3	+	6	4330	c.4330delC	c.(4330-4332)cccfs	p.P1445fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1445	Pro-rich.				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)										CATCACCGAGCCCCCCGGCGC	0.632																																						uc010ekv.2																			0				central_nervous_system(1)	1						c.(4330-4332)CCCfs		glucocorticoid receptor DNA binding factor 1							94.0	101.0	99.0					19																	47503775		2036	4171	6207	SO:0001589	frameshift_variant	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.chr19:47503775delC	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.4330delC	19.37:g.47503775delC	ENSP00000385720:p.Pro1445fs						p.P1444fs	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)	6	4330	+		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)	1444			Pro-rich.		A7E2A4|Q14452|Q9C0E1	Frame_Shift_Del	DEL	ENST00000404338.3	37	c.4330delC	CCDS46127.1																																																																																					0.632	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		123	91	123	91	---	---	---	---
