#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
SERINC2	347735	broad.mit.edu	37	1	31905860	31905860	+	Missense_Mutation	SNP	G	G	A	rs139208281	byFrequency	TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:31905860G>A	ENST00000373709.3	+	9	1210	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	SERINC2_ENST00000536859.1_Missense_Mutation_p.E358K|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536384.1_Missense_Mutation_p.E358K|SERINC2_ENST00000373710.1_Missense_Mutation_p.E363K	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	354					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		GATGCAGACCGAGGAGTGCCC	0.617													G|||	4	0.000798722	0.0023	0.0	5008	,	,		17603	0.001		0.0	False		,,,				2504	0.0					uc010ogh.1																			0					0						c.(1072-1074)GAG>AAG		tumor differentially expressed 2-like		G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	4,4402	6.2+/-15.9	0,4,2199	43.0	37.0	39.0		1072,1087,895,1072,1060	4.4	0.9	1	dbSNP_134	39	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense	SERINC2	NM_001199037.1,NM_001199038.1,NM_001199039.1,NM_018565.3,NM_178865.4	56,56,56,56,56	0,6,6497	AA,AG,GG		0.0233,0.0908,0.0461	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	358/460,363/465,299/401,358/460,354/456	31905860	6,13000	2203	4300	6503	SO:0001583	missense	347735					integral to membrane		g.chr1:31905860G>A	AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"""tumor differentially expressed 2-like"""	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.1060G>A	1.37:g.31905860G>A	ENSP00000362813:p.Glu354Lys					SERINC2_uc010ogg.1_Missense_Mutation_p.E355K|SERINC2_uc001bst.2_Missense_Mutation_p.E354K|SERINC2_uc001bsu.2_Missense_Mutation_p.E299K|SERINC2_uc001bsv.2_Missense_Mutation_p.E299K	p.E358K	NM_178865	NP_849196	Q96SA4	SERC2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)	9	1273	+		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)	354					A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Missense_Mutation	SNP	ENST00000373709.3	37	c.1072G>A	CCDS30662.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.93	2.680963	0.47886	9.08E-4	2.33E-4	ENSG00000168528	ENST00000373710;ENST00000536859;ENST00000373709;ENST00000536384	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	4.36	4.36	0.52297	.	0.079058	0.48286	N	0.000198	T	0.33498	0.0865	M	0.83118	2.625	0.51012	D	0.999903	P;D;D	0.57571	0.801;0.978;0.98	B;P;P	0.60415	0.36;0.821;0.874	T	0.29427	-1.0012	10	0.11794	T	0.64	-24.5245	15.793	0.78380	0.0:0.0:1.0:0.0	.	358;363;354	B4DJK5;E7EUZ9;Q96SA4	.;.;SERC2_HUMAN	K	363;358;354;358	ENSP00000362814:E363K;ENSP00000444307:E358K;ENSP00000362813:E354K;ENSP00000439048:E358K	ENSP00000362813:E354K	E	+	1	0	SERINC2	31678447	1.000000	0.71417	0.907000	0.35723	0.553000	0.35397	5.583000	0.67484	2.246000	0.74042	0.596000	0.82720	GAG		0.617	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	NM_018565	
ZC3H12A	80149	broad.mit.edu	37	1	37948876	37948876	+	Silent	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:37948876C>T	ENST00000373087.6	+	6	1580	c.1464C>T	c.(1462-1464)ggC>ggT	p.G488G		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGCCTTTGGCCGGGCCATGG	0.662																																						uc001cbb.3																			0				ovary(2)	2						c.(1462-1464)GGC>GGT		zinc finger CCCH-type containing 12A							62.0	72.0	68.0					1																	37948876		2203	4300	6503	SO:0001819	synonymous_variant	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37948876C>T		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1464C>T	1.37:g.37948876C>T						ZC3H12A_uc001cbc.1_Silent_p.G283G	p.G488G	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN			6	1614	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	488			Pro-rich.			Silent	SNP	ENST00000373087.6	37	c.1464C>T	CCDS417.1																																																																																				0.662	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079	
MFSD2A	84879	broad.mit.edu	37	1	40432533	40432533	+	Missense_Mutation	SNP	C	C	T	rs373419262		TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:40432533C>T	ENST00000372809.5	+	8	1038	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	MFSD2A_ENST00000372811.5_Missense_Mutation_p.R286W|MFSD2A_ENST00000480630.1_Intron|MFSD2A_ENST00000420632.2_Missense_Mutation_p.R130W	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	299					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CCGGGGCCTACGGCTGGTCAT	0.572																																						uc001cev.2																			0				ovary(1)|pancreas(1)	2						c.(895-897)CGG>TGG		major facilitator superfamily domain containing		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	102.0	100.0	101.0		895,856	4.7	1.0	1		101	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MFSD2A	NM_001136493.1,NM_032793.3	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	299/544,286/531	40432533	1,13005	2203	4300	6503	SO:0001583	missense	84879				transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr1:40432533C>T	AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"""major facilitator superfamily domain containing 2"""	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.895C>T	1.37:g.40432533C>T	ENSP00000361895:p.Arg299Trp					MFSD2A_uc010ojb.1_Missense_Mutation_p.R247W|MFSD2A_uc001ceu.2_Missense_Mutation_p.R286W|MFSD2A_uc010ojc.1_Missense_Mutation_p.R130W|MFSD2A_uc009vvy.2_RNA|MFSD2A_uc001cex.2_5'Flank	p.R299W	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN			8	1076	+			299					A8K675|Q6UWU5|Q96F59|Q9BRC8	Missense_Mutation	SNP	ENST00000372809.5	37	c.895C>T	CCDS44118.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827873	0.32329	0.0	1.16E-4	ENSG00000168389	ENST00000372811;ENST00000420632;ENST00000372809	D;D;D	0.88354	-2.37;-2.37;-2.37	5.64	4.67	0.58626	Major facilitator superfamily domain, general substrate transporter (1);	0.581139	0.18944	N	0.126845	D	0.86297	0.5899	L	0.53249	1.67	0.37438	D	0.914316	B;B;B	0.29432	0.103;0.244;0.103	B;B;B	0.30572	0.027;0.117;0.037	D	0.87220	0.2253	10	0.87932	D	0	-26.4588	11.9424	0.52909	0.2987:0.7013:0.0:0.0	.	247;299;286	B4DNN7;Q8NA29;Q8NA29-2	.;MFS2A_HUMAN;.	W	286;130;299	ENSP00000361898:R286W;ENSP00000391261:R130W;ENSP00000361895:R299W	ENSP00000361895:R299W	R	+	1	2	MFSD2A	40205120	0.988000	0.35896	1.000000	0.80357	0.784000	0.44337	1.449000	0.35123	2.816000	0.96949	0.563000	0.77884	CGG		0.572	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793	
FAM151A	338094	broad.mit.edu	37	1	55078368	55078368	+	Silent	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:55078368G>T	ENST00000302250.2	-	5	751	c.591C>A	c.(589-591)gtC>gtA	p.V197V	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Silent_p.V197V	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	197						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						ACTTCTCCTGGACCAGGGCCA	0.562																																						uc001cxn.2																			0					0						c.(589-591)GTC>GTA		hypothetical protein LOC338094							72.0	62.0	66.0					1																	55078368		2203	4300	6503	SO:0001819	synonymous_variant	338094					integral to membrane		g.chr1:55078368G>T	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.591C>A	1.37:g.55078368G>T						ACOT11_uc001cxm.1_Intron	p.V197V	NM_176782	NP_788954	Q8WW52	F151A_HUMAN			5	723	-			197					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Silent	SNP	ENST00000302250.2	37	c.591C>A	CCDS594.1																																																																																				0.562	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782	
TM2D1	83941	broad.mit.edu	37	1	62190705	62190705	+	Missense_Mutation	SNP	T	T	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:62190705T>A	ENST00000606498.1	-	1	108	c.88A>T	c.(88-90)Aca>Tca	p.T30S	TM2D1_ENST00000371180.2_Missense_Mutation_p.T92S|TM2D1_ENST00000294613.5_Missense_Mutation_p.T30S|TM2D1_ENST00000371177.2_Missense_Mutation_p.T30S			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	30					apoptotic signaling pathway (GO:0097190)	integral component of plasma membrane (GO:0005887)	beta-amyloid binding (GO:0001540)|G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|lung(3)|ovary(1)	6						CAGGGTCCTGTAGTGACTGAG	0.647																																						uc001czz.1																			0				ovary(1)	1						c.(88-90)ACA>TCA		beta-amyloid binding protein precursor							35.0	42.0	40.0					1																	62190705		1900	4100	6000	SO:0001583	missense	83941				apoptosis			g.chr1:62190705T>A	AF353990	CCDS65554.1	1p32.1	2008-02-05			ENSG00000162604	ENSG00000162604			24142	protein-coding gene	gene with protein product		610080				11278849, 12553667	Standard	NM_032027		Approved	BBP	uc001czz.1	Q9BX74	OTTHUMG00000008466	ENST00000606498.1:c.88A>T	1.37:g.62190705T>A	ENSP00000475700:p.Thr30Ser						p.T30S	NM_032027	NP_114416	Q9BX74	TM2D1_HUMAN			1	391	-			30					A6NDA8	Missense_Mutation	SNP	ENST00000606498.1	37	c.88A>T		.	.	.	.	.	.	.	.	.	.	T	17.09	3.301639	0.60195	.	.	ENSG00000162604	ENST00000371180;ENST00000294613;ENST00000371178;ENST00000371177	.	.	.	4.57	-2.13	0.07144	.	0.809062	0.10820	N	0.630610	T	0.15912	0.0383	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30208	-0.9986	9	0.08179	T	0.78	-18.9126	0.8903	0.01252	0.1672:0.3098:0.1719:0.3511	.	30	Q9BX74	TM2D1_HUMAN	S	92;30;30;30	.	ENSP00000294613:T30S	T	-	1	0	TM2D1	61963293	0.158000	0.22850	0.004000	0.12327	0.674000	0.39518	-0.526000	0.06207	-0.240000	0.09696	0.379000	0.24179	ACA		0.647	TM2D1-012	KNOWN	non_canonical_U12|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470779.2	NM_032027	
HRNR	388697	broad.mit.edu	37	1	152193139	152193139	+	Silent	SNP	G	G	A	rs373322403		TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:152193139G>A	ENST00000368801.2	-	3	1041	c.966C>T	c.(964-966)caC>caT	p.H322H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	322					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGTTGGCCGTGGCTGGAGG	0.607																																						uc001ezt.1																			0				skin(2)|ovary(1)	3						c.(964-966)CAC>CAT		hornerin		G		1,4405	2.1+/-5.4	0,1,2202	78.0	87.0	84.0		966	-7.3	0.0	1		84	0,8600		0,0,4300	no	coding-synonymous	HRNR	NM_001009931.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		322/2851	152193139	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193139G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.966C>T	1.37:g.152193139G>A							p.H322H	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1042	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		322			3.		Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.966C>T	CCDS30859.1																																																																																				0.607	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
YY1AP1	55249	broad.mit.edu	37	1	155629971	155629971	+	Missense_Mutation	SNP	A	A	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:155629971A>T	ENST00000295566.4	-	11	1891	c.1868T>A	c.(1867-1869)gTc>gAc	p.V623D	YY1AP1_ENST00000404643.1_Missense_Mutation_p.V557D|YY1AP1_ENST00000368330.2_Missense_Mutation_p.V577D|YY1AP1_ENST00000361831.5_Missense_Mutation_p.V566D|YY1AP1_ENST00000535662.1_Missense_Mutation_p.V423D|YY1AP1_ENST00000347088.5_Missense_Mutation_p.V577D|YY1AP1_ENST00000368340.5_Missense_Mutation_p.V695D|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000359205.5_Missense_Mutation_p.V566D|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368339.5_Missense_Mutation_p.V715D|YY1AP1_ENST00000311573.5_Missense_Mutation_p.V546D|YY1AP1_ENST00000407221.1_Missense_Mutation_p.V546D|YY1AP1_ENST00000355499.4_Missense_Mutation_p.V577D	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	623					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AGCCGCATTGACAGGCTGGAT	0.557																																						uc001fln.2																			0				ovary(2)|skin(1)	3						c.(1867-1869)GTC>GAC		YY1-associated protein isoform 2							87.0	81.0	83.0					1																	155629971		2203	4298	6501	SO:0001583	missense	55249				regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:155629971A>T	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.1868T>A	1.37:g.155629971A>T	ENSP00000295566:p.Val623Asp					YY1AP1_uc001flg.2_Missense_Mutation_p.V362D|YY1AP1_uc010pgg.1_Missense_Mutation_p.V462D|YY1AP1_uc010pgh.1_Missense_Mutation_p.V566D|YY1AP1_uc010pgi.1_Missense_Mutation_p.V715D|YY1AP1_uc001flh.2_Missense_Mutation_p.V695D|YY1AP1_uc009wqt.2_Missense_Mutation_p.V546D|YY1AP1_uc001flk.2_Missense_Mutation_p.V566D|YY1AP1_uc001fll.2_Missense_Mutation_p.V577D|YY1AP1_uc009wqv.2_Missense_Mutation_p.V294D|YY1AP1_uc001flm.2_Missense_Mutation_p.V566D|YY1AP1_uc001fli.2_Missense_Mutation_p.V577D|YY1AP1_uc009wqu.2_Missense_Mutation_p.V410D|YY1AP1_uc001flj.2_Missense_Mutation_p.V557D|YY1AP1_uc009wqw.2_Missense_Mutation_p.V546D|YY1AP1_uc001flo.2_Missense_Mutation_p.V511D|YY1AP1_uc001flp.2_Missense_Mutation_p.V577D	p.V623D	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN			11	1892	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		623					B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.1868T>A	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	a	14.78	2.638719	0.47153	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.31510	1.56;1.56;1.57;1.56;1.56;1.51;1.54;1.56;1.57;1.57;1.49;1.57	2.53	2.53	0.30540	.	0.193192	0.36066	N	0.002818	T	0.30885	0.0779	L	0.54323	1.7	0.28091	N	0.931783	D;D;D;D;D	0.89917	0.963;1.0;0.96;0.999;0.999	P;D;D;D;D	0.87578	0.775;0.998;0.917;0.958;0.929	T	0.03423	-1.1038	10	0.87932	D	0	.	6.6695	0.23060	0.8745:0.0:0.1255:0.0	.	715;557;623;577;695	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	D	566;577;546;577;566;695;623;577;546;557;715;423	ENSP00000352134:V566D;ENSP00000347686:V577D;ENSP00000311138:V546D;ENSP00000316079:V577D;ENSP00000355298:V566D;ENSP00000357324:V695D;ENSP00000295566:V623D;ENSP00000357314:V577D;ENSP00000385791:V546D;ENSP00000385390:V557D;ENSP00000357323:V715D;ENSP00000437926:V423D	ENSP00000295566:V623D	V	-	2	0	YY1AP1	153896595	0.833000	0.29383	0.968000	0.41197	0.963000	0.63663	3.390000	0.52523	1.165000	0.42670	0.254000	0.18369	GTC		0.557	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118	
OLFML2B	25903	broad.mit.edu	37	1	161987297	161987297	+	Splice_Site	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:161987297G>A	ENST00000294794.3	-	3	862	c.439C>T	c.(439-441)Ctc>Ttc	p.L147F	OLFML2B_ENST00000367940.2_Splice_Site_p.L147F	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	147					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			ATTGTGGAGAGCTATGAAACA	0.522																																						uc001gbu.2																			0				skin(1)	1						c.(439-441)CTC>TTC		olfactomedin-like 2B precursor							95.0	92.0	93.0					1																	161987297		2203	4300	6503	SO:0001630	splice_region_variant	25903							g.chr1:161987297G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.439-1C>T	1.37:g.161987297G>A						OLFML2B_uc010pkq.1_Missense_Mutation_p.L147F	p.L147F	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		3	863	-	all_hematologic(112;0.156)		147					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.439C>T	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933248	0.73442	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	T;T	0.44083	0.93;0.93	5.38	4.45	0.53987	.	.	.	.	.	T	0.42787	0.1218	L	0.60455	1.87	0.45946	D	0.998773	D;D	0.69078	0.99;0.997	P;D	0.64877	0.861;0.93	T	0.52117	-0.8618	8	0.87932	D	0	.	7.3397	0.26630	0.0871:0.1712:0.7417:0.0	.	147;147	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	F	147	ENSP00000294794:L147F;ENSP00000356917:L147F	ENSP00000294794:L147F	L	-	1	0	OLFML2B	160253921	1.000000	0.71417	0.997000	0.53966	0.774000	0.43823	4.273000	0.58914	1.459000	0.47892	0.655000	0.94253	CTC		0.522	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441	Missense_Mutation
LGR6	59352	broad.mit.edu	37	1	202249926	202249926	+	Missense_Mutation	SNP	G	G	A	rs372287043		TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:202249926G>A	ENST00000367278.3	+	6	751	c.662G>A	c.(661-663)cGc>cAc	p.R221H	LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000255432.7_Missense_Mutation_p.R169H|LGR6_ENST00000439764.2_Intron	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	221					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)	p.R221H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CATAACAACCGCATCCAGCAT	0.567																																						uc001gxu.2																			1	Substitution - Missense(1)		endometrium(1)	large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(661-663)CGC>CAC		leucine-rich repeat-containing G protein-coupled		G	,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	135.0	119.0	125.0		,506,662	-1.2	1.0	1		125	0,8600		0,0,4300	no	intron,missense,missense	LGR6	NM_001017404.1,NM_021636.2,NM_001017403.1	,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,benign,benign	,169/916,221/968	202249926	1,13005	2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202249926G>A	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.662G>A	1.37:g.202249926G>A	ENSP00000356247:p.Arg221His					LGR6_uc001gxv.2_Missense_Mutation_p.R169H|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Intron|LGR6_uc009xac.1_RNA	p.R221H	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN			6	662	+			221			LRR 6.|Extracellular (Potential).		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.662G>A	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983616	0.35036	2.27E-4	0.0	ENSG00000133067	ENST00000367278;ENST00000255432	T;T	0.59083	0.29;0.29	4.87	-1.25	0.09405	.	0.404179	0.25798	N	0.028225	T	0.42720	0.1215	L	0.31476	0.935	0.58432	D	0.999997	B;B	0.29481	0.054;0.245	B;B	0.31751	0.029;0.135	T	0.29488	-1.0010	10	0.52906	T	0.07	.	11.5342	0.50628	0.3696:0.0:0.6304:0.0	.	169;221	Q9HBX8-2;Q9HBX8	.;LGR6_HUMAN	H	221;169	ENSP00000356247:R221H;ENSP00000255432:R169H	ENSP00000255432:R169H	R	+	2	0	LGR6	200516549	0.003000	0.15002	0.995000	0.50966	0.945000	0.59286	-0.049000	0.11924	-0.110000	0.12022	-0.258000	0.10820	CGC		0.567	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636	
LAMB3	3914	broad.mit.edu	37	1	209797264	209797264	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:209797264G>A	ENST00000356082.4	-	15	2192	c.2058C>T	c.(2056-2058)gaC>gaT	p.D686D	LAMB3_ENST00000391911.1_Silent_p.D686D|LAMB3_ENST00000367030.3_Silent_p.D686D|MIR4260_ENST00000583107.1_RNA	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	686	Domain II.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TGAAGCTTCTGTCAAGACTCT	0.547																																						uc001hhg.2																			0				central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6						c.(2056-2058)GAC>GAT		laminin, beta 3 precursor							95.0	93.0	94.0					1																	209797264		2203	4300	6503	SO:0001819	synonymous_variant	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209797264G>A	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.2058C>T	1.37:g.209797264G>A						LAMB3_uc009xco.2_Silent_p.D686D|LAMB3_uc001hhh.2_Silent_p.D686D|LAMB3_uc010psl.1_RNA|hsa-mir-4260|MI0015859_5'Flank	p.D686D	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	14	2448	-			686			Domain II.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	ENST00000356082.4	37	c.2058C>T	CCDS1487.1																																																																																				0.547	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228	
VDAC2	7417	broad.mit.edu	37	10	76970926	76970926	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr10:76970926C>T	ENST00000332211.6	+	2	223	c.10C>T	c.(10-12)Cac>Tac	p.H4Y	VDAC2_ENST00000543351.1_Missense_Mutation_p.H4Y|VDAC2_ENST00000313132.4_5'UTR|VDAC2_ENST00000472137.1_3'UTR|VDAC2_ENST00000535553.1_5'UTR	NM_003375.3	NP_003366.2	P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	4					anion transport (GO:0006820)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein polymerization (GO:0032272)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	CATGGCGACCCACGGACAGAC	0.627																																						uc001jwz.2																			0				pancreas(2)|ovary(1)	3						c.(10-12)CAC>TAC		voltage-dependent anion channel 2	Dihydroxyaluminium(DB01375)						37.0	35.0	36.0					10																	76970926		2203	4300	6503	SO:0001583	missense	7417					mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	g.chr10:76970926C>T	BC000165	CCDS7348.1, CCDS53544.1	10q22	2011-11-15			ENSG00000165637	ENSG00000165637		"""Voltage-dependent anion channels"""	12672	protein-coding gene	gene with protein product		193245				7517385, 10049775	Standard	NM_003375		Approved		uc021ptp.1	P45880	OTTHUMG00000018517	ENST00000332211.6:c.10C>T	10.37:g.76970926C>T	ENSP00000361686:p.His4Tyr					VDAC2_uc010qld.1_5'UTR|VDAC2_uc001jxa.2_5'UTR|VDAC2_uc010qle.1_5'UTR	p.H4Y	NM_003375	NP_003366	P45880	VDAC2_HUMAN			2	169	+	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)		4					Q5VWK1|Q5VWK3|Q6IB40|Q7L3J5|Q9BWK8|Q9Y5I6	Missense_Mutation	SNP	ENST00000332211.6	37	c.10C>T	CCDS7348.1	.	.	.	.	.	.	.	.	.	.	C	4.199	0.035643	0.08148	.	.	ENSG00000165637	ENST00000298468;ENST00000543351;ENST00000344036;ENST00000332211;ENST00000447677	T;T;T;T;T	0.43294	0.96;0.97;0.95;0.97;0.95	5.54	0.603	0.17541	.	38.903100	0.00166	N	0.000000	T	0.23330	0.0564	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34004	-0.9846	10	0.09590	T	0.72	.	8.1516	0.31143	0.0:0.3434:0.0:0.6566	.	4	P45880	VDAC2_HUMAN	Y	4	ENSP00000298468:H4Y;ENSP00000443092:H4Y;ENSP00000344876:H4Y;ENSP00000361686:H4Y;ENSP00000401492:H4Y	ENSP00000298468:H4Y	H	+	1	0	VDAC2	76640932	0.019000	0.18553	0.987000	0.45799	0.910000	0.53928	0.287000	0.18920	0.145000	0.18977	-1.004000	0.02495	CAC		0.627	VDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048792.1	NM_003375	
PTEN	5728	broad.mit.edu	37	10	89690846	89690846	+	Splice_Site	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr10:89690846G>T	ENST00000371953.3	+	4	1610	c.253G>T	c.(253-255)Gtt>Ttt	p.V85F		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	85	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.C71fs*6(2)|p.L70fs*7(2)|p.Y27fs*1(2)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TAATTGCAGAGGTAGGTATGA	0.318		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		56	Whole gene deletion(37)|Deletion - Frameshift(12)|Unknown(6)|Deletion - In frame(1)	p.R55fs*1(4)|p.?(3)|p.V85A(2)|p.C71fs*6(2)|p.L70fs*7(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.V85G(1)|p.N82_P95del(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(14)|lung(7)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(253-255)GTT>TTT		phosphatase and tensin homolog							82.0	75.0	78.0					10																	89690846		2202	4295	6497	SO:0001630	splice_region_variant	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89690846G>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.253+1G>T	10.37:g.89690846G>T		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.V85F	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1284	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	85			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.253G>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319475	0.95682	.	.	ENSG00000171862	ENST00000371953	D	0.98633	-5.04	5.62	5.62	0.85841	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99215	1.0877	9	.	.	.	-10.4098	20.0185	0.97487	0.0:0.0:1.0:0.0	.	85	P60484	PTEN_HUMAN	F	85	ENSP00000361021:V85F	.	V	+	1	0	PTEN	89680826	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.332000	0.96446	2.809000	0.96659	0.467000	0.42956	GTT		0.318	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Missense_Mutation
SEC23IP	11196	broad.mit.edu	37	10	121668628	121668628	+	Missense_Mutation	SNP	A	A	G			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr10:121668628A>G	ENST00000369075.3	+	5	1249	c.1177A>G	c.(1177-1179)Atg>Gtg	p.M393V	SEC23IP_ENST00000543134.1_Missense_Mutation_p.M182V	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	393					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GACAATTGTTATGCACAATCC	0.303																																						uc001leu.1																			0				ovary(3)	3						c.(1177-1179)ATG>GTG		Sec23-interacting protein p125							92.0	92.0	92.0					10																	121668628		2203	4299	6502	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121668628A>G	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.1177A>G	10.37:g.121668628A>G	ENSP00000358071:p.Met393Val					SEC23IP_uc010qtc.1_Missense_Mutation_p.M182V	p.M393V	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	5	1249	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	393					D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.1177A>G	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	A	14.39	2.521442	0.44866	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.28255	1.62;1.62	5.14	5.14	0.70334	.	0.034121	0.85682	D	0.000000	T	0.36303	0.0962	M	0.71296	2.17	0.58432	D	0.999999	B;B	0.29612	0.251;0.085	B;B	0.32677	0.15;0.058	T	0.14811	-1.0459	10	0.27785	T	0.31	-12.1079	15.2525	0.73559	1.0:0.0:0.0:0.0	.	182;393	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	V	393;182	ENSP00000358071:M393V;ENSP00000438773:M182V	ENSP00000358071:M393V	M	+	1	0	SEC23IP	121658618	1.000000	0.71417	0.951000	0.38953	0.997000	0.91878	5.545000	0.67237	2.064000	0.61679	0.454000	0.30748	ATG		0.303	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1		
TH	7054	broad.mit.edu	37	11	2186970	2186970	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr11:2186970G>A	ENST00000381178.1	-	12	1239	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	TH_ENST00000333684.5_Silent_p.F286F|TH_ENST00000381175.1_Silent_p.F403F|TH_ENST00000352909.3_Silent_p.F376F	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	407					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	TACACAGCCCGAACTCCACCG	0.667																																						uc001lvq.2																			0					0						c.(1219-1221)TTC>TTT		tyrosine hydroxylase isoform a	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)						48.0	48.0	48.0					11																	2186970		2197	4293	6490	SO:0001819	synonymous_variant	7054				dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	g.chr11:2186970G>A	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.1221C>T	11.37:g.2186970G>A						TH_uc001lvp.2_Silent_p.F403F|TH_uc001lvr.2_Silent_p.F376F|TH_uc010qxj.1_Silent_p.F380F|TH_uc001lvs.2_Silent_p.F282F|TH_uc001lvt.2_Silent_p.F286F|TH_uc009ydh.1_RNA	p.F407F	NM_199292	NP_954986	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	12	1240	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	407					B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Silent	SNP	ENST00000381178.1	37	c.1221C>T	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	G	5.795	0.330995	0.10956	.	.	ENSG00000180176	ENST00000412076	.	.	.	4.03	-8.05	0.01106	.	.	.	.	.	T	0.47838	0.1467	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54629	-0.8265	4	.	.	.	-5.3528	8.674	0.34167	0.3066:0.0:0.5783:0.1151	.	.	.	.	W	96	.	.	R	-	1	2	TH	2143546	0.002000	0.14202	0.974000	0.42286	0.315000	0.28087	-0.932000	0.03963	-1.245000	0.02513	-0.573000	0.04149	CGG		0.667	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360	
OR51A4	401666	broad.mit.edu	37	11	4967921	4967921	+	Missense_Mutation	SNP	A	A	G			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr11:4967921A>G	ENST00000380373.2	-	1	435	c.410T>C	c.(409-411)aTc>aCc	p.I137T	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTTGTCAGGATTGAGGTGTA	0.428																																						uc010qys.1																			0				ovary(2)|skin(1)	3						c.(409-411)ATC>ACC		olfactory receptor, family 51, subfamily A,							280.0	281.0	281.0					11																	4967921		2186	4268	6454	SO:0001583	missense	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967921A>G	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.410T>C	11.37:g.4967921A>G	ENSP00000369731:p.Ile137Thr						p.I137T	NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	410	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	137			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000380373.2	37	c.410T>C	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	A	13.54	2.266339	0.40095	.	.	ENSG00000205497	ENST00000380373	T	0.21191	2.02	3.58	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.31765	0.0807	M	0.88906	2.99	0.22034	N	0.999404	P	0.37398	0.593	B	0.37943	0.261	T	0.21314	-1.0249	9	0.72032	D	0.01	.	9.171	0.37081	0.8159:0.1841:0.0:0.0	.	137	Q8NGJ6	O51A4_HUMAN	T	137	ENSP00000369731:I137T	ENSP00000369731:I137T	I	-	2	0	OR51A4	4924497	0.305000	0.24481	0.006000	0.13384	0.194000	0.23727	4.707000	0.61852	0.538000	0.28769	0.473000	0.43528	ATC		0.428	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329	
NAV2	89797	broad.mit.edu	37	11	19961278	19961278	+	Missense_Mutation	SNP	A	A	G			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr11:19961278A>G	ENST00000396087.3	+	9	2273	c.2174A>G	c.(2173-2175)cAc>cGc	p.H725R	NAV2_ENST00000527559.2_Missense_Mutation_p.H654R|NAV2_ENST00000360655.4_Missense_Mutation_p.H638R|NAV2_ENST00000349880.4_Missense_Mutation_p.H702R|NAV2_ENST00000540292.1_Missense_Mutation_p.H656R|NAV2_ENST00000396085.1_Missense_Mutation_p.H702R	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	725					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAGCCCAGCCACTTCACCAAG	0.532																																						uc010rdm.1																			0				skin(4)|ovary(1)|pancreas(1)	6						c.(2173-2175)CAC>CGC		neuron navigator 2 isoform 2							143.0	110.0	121.0					11																	19961278		2199	4293	6492	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19961278A>G	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2174A>G	11.37:g.19961278A>G	ENSP00000379396:p.His725Arg					NAV2_uc001mpp.2_Missense_Mutation_p.H638R|NAV2_uc001mpr.3_Missense_Mutation_p.H702R	p.H725R	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN			9	2535	+			725					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.2174A>G	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.675803	0.29783	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.26810	1.71;1.82;1.82;1.82;1.71;1.71	5.71	4.55	0.56014	.	0.188661	0.37304	N	0.002144	T	0.14356	0.0347	N	0.22421	0.69	0.80722	D	1	B;B	0.19583	0.017;0.037	B;B	0.23018	0.027;0.043	T	0.13255	-1.0516	9	.	.	.	.	5.2722	0.15630	0.5384:0.1206:0.0:0.3411	.	702;638	Q8IVL1-3;Q8IVL1-4	.;.	R	638;702;702;725;654;656	ENSP00000353871:H638R;ENSP00000379394:H702R;ENSP00000309577:H702R;ENSP00000379396:H725R;ENSP00000435395:H654R;ENSP00000443489:H656R	.	H	+	2	0	NAV2	19917854	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.099000	0.50267	2.174000	0.68829	0.460000	0.39030	CAC		0.532	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
TRIM51	84767	broad.mit.edu	37	11	55655591	55655591	+	Missense_Mutation	SNP	C	C	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr11:55655591C>A	ENST00000449290.2	+	4	683	c.591C>A	c.(589-591)caC>caA	p.H197Q	TRIM51_ENST00000244891.3_Missense_Mutation_p.H54Q	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	197						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.H38Q(1)|p.H197Q(1)									AGCAACATCACTTGGAAAGGC	0.423																																						uc010rip.1																			2	Substitution - Missense(2)		lung(2)		0						c.(589-591)CAC>CAA		SPRY domain containing 5							57.0	54.0	55.0					11																	55655591		2201	4296	6497	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55655591C>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.591C>A	11.37:g.55655591C>A	ENSP00000395086:p.His197Gln					SPRYD5_uc010riq.1_Missense_Mutation_p.H54Q	p.H197Q	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			4	683	+		all_epithelial(135;0.226)	197					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.591C>A		.	.	.	.	.	.	.	.	.	.	.	4.364	0.067088	0.08388	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.09445	2.98;2.98	0.757	-1.47	0.08772	.	.	.	.	.	T	0.10551	0.0258	M	0.73753	2.245	0.09310	N	1	P	0.41748	0.761	B	0.38106	0.265	T	0.19844	-1.0293	9	0.26408	T	0.33	.	3.2128	0.06689	0.0:0.3734:0.0:0.6266	.	197	Q9BSJ1	SPRY5_HUMAN	Q	197;54	ENSP00000395086:H197Q;ENSP00000244891:H54Q	ENSP00000244891:H54Q	H	+	3	2	SPRYD5	55412167	0.000000	0.05858	0.001000	0.08648	0.428000	0.31595	-0.774000	0.04684	-0.410000	0.07542	0.152000	0.16155	CAC		0.423	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681	
BIN2	51411	broad.mit.edu	37	12	51696870	51696870	+	Splice_Site	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr12:51696870C>T	ENST00000267012.4	-	3	279		c.e3+1		BIN2_ENST00000544402.1_Splice_Site|BIN2_ENST00000452142.2_Splice_Site|BIN2_ENST00000604560.1_Splice_Site	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2						cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GCATTGCCCACCTTTGACTGC	0.433																																						uc001ryg.2																			0				ovary(1)	1						c.e3+1		bridging integrator 2							125.0	112.0	117.0					12																	51696870		2203	4300	6503	SO:0001630	splice_region_variant	51411					cytoplasm	protein binding	g.chr12:51696870C>T	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.217+1G>A	12.37:g.51696870C>T						BIN2_uc009zlz.2_Splice_Site_p.V73_splice|BIN2_uc001ryh.2_Splice_Site|BIN2_uc010sng.1_Splice_Site_p.V47_splice	p.V73_splice	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN			3	269	-								Q86VV0|Q9NWK4|Q9UKN4	Splice_Site	SNP	ENST00000267012.4	37	c.217_splice	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739521	0.69304	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5219	0.75871	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BIN2	49983137	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	6.207000	0.72159	2.586000	0.87340	0.655000	0.94253	.		0.433	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1		Intron
OR6C75	390323	broad.mit.edu	37	12	55759400	55759400	+	Missense_Mutation	SNP	C	C	G			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr12:55759400C>G	ENST00000343399.3	+	1	506	c.506C>G	c.(505-507)tCc>tGc	p.S169C		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TTCTGTGCCTCCAATGTAATT	0.433																																						uc010spk.1																			0				ovary(2)|large_intestine(1)	3						c.(505-507)TCC>TGC		olfactory receptor, family 6, subfamily C,							172.0	144.0	154.0					12																	55759400		2203	4300	6503	SO:0001583	missense	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759400C>G		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.506C>G	12.37:g.55759400C>G	ENSP00000368987:p.Ser169Cys						p.S169C	NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN			1	506	+			169			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000343399.3	37	c.506C>G	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	c	15.35	2.807898	0.50421	.	.	ENSG00000187857	ENST00000343399	T	0.39592	1.07	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000272	T	0.70988	0.3287	M	0.91510	3.215	0.19300	N	0.99998	D	0.89917	1.0	D	0.97110	1.0	T	0.67810	-0.5574	10	0.87932	D	0	.	14.5607	0.68133	0.0:0.8127:0.1873:0.0	.	169	A6NL08	O6C75_HUMAN	C	169	ENSP00000368987:S169C	ENSP00000368987:S169C	S	+	2	0	OR6C75	54045667	0.000000	0.05858	1.000000	0.80357	0.958000	0.62258	0.142000	0.16096	2.725000	0.93324	0.632000	0.83419	TCC		0.433	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1		
FGD6	55785	broad.mit.edu	37	12	95604181	95604181	+	Silent	SNP	T	T	C			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr12:95604181T>C	ENST00000343958.4	-	2	1102	c.879A>G	c.(877-879)tcA>tcG	p.S293S	FGD6_ENST00000549499.1_Silent_p.S293S|FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000546711.1_Silent_p.S293S	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	293					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CTTTGACTTCTGATTTCTTAC	0.388																																						uc001tdp.3																			0				ovary(2)|breast(1)	3						c.(877-879)TCA>TCG		FYVE, RhoGEF and PH domain containing 6							79.0	82.0	81.0					12																	95604181		2203	4300	6503	SO:0001819	synonymous_variant	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95604181T>C	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.879A>G	12.37:g.95604181T>C						FGD6_uc009zsx.2_Intron	p.S293S	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN			2	1103	-			293					Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Silent	SNP	ENST00000343958.4	37	c.879A>G	CCDS31878.1																																																																																				0.388	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351	
TBX5	6910	broad.mit.edu	37	12	114804065	114804065	+	Missense_Mutation	SNP	C	C	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr12:114804065C>A	ENST00000310346.4	-	8	1553	c.887G>T	c.(886-888)gGt>gTt	p.G296V	TBX5_ENST00000349716.5_Missense_Mutation_p.G246V|TBX5_ENST00000405440.2_Missense_Mutation_p.G296V|TBX5_ENST00000526441.1_Missense_Mutation_p.G296V	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	296					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GCCGGAAACACCATTCTCACA	0.552																																					NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2																			0				ovary(6)|pancreas(1)|skin(1)	8						c.(886-888)GGT>GTT		T-box 5 isoform 1							130.0	111.0	118.0					12																	114804065		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114804065C>A	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.887G>T	12.37:g.114804065C>A	ENSP00000309913:p.Gly296Val					TBX5_uc001tvp.2_Missense_Mutation_p.G296V|TBX5_uc001tvq.2_Missense_Mutation_p.G246V|TBX5_uc010syv.1_Missense_Mutation_p.G296V	p.G296V	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	8	1382	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		296					A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.887G>T	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124992	0.77436	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.92570	0.7640	M	0.79475	2.455	0.80722	D	1	D;D	0.71674	0.998;0.998	D;P	0.74674	0.984;0.904	D	0.92451	0.5970	10	0.56958	D	0.05	.	19.6517	0.95819	0.0:1.0:0.0:0.0	.	296;296	Q99593-2;Q99593	.;TBX5_HUMAN	V	246;296;193;296;296	ENSP00000337723:G246V;ENSP00000309913:G296V;ENSP00000384152:G296V;ENSP00000433292:G296V	ENSP00000309913:G296V	G	-	2	0	TBX5	113288448	1.000000	0.71417	0.945000	0.38365	0.613000	0.37349	7.487000	0.81328	2.662000	0.90505	0.655000	0.94253	GGT		0.552	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717	
POLE	5426	broad.mit.edu	37	12	133220099	133220100	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr12:133220099_133220100delCA	ENST00000320574.5	-	34	4380_4381	c.4337_4338delTG	c.(4336-4338)gtgfs	p.V1447fs	POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1447					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GTTTATTGACCACACACACACA	0.604								DNA polymerases (catalytic subunits)																														uc001uks.1																			0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(4336-4338)GTGfs	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon																																				SO:0001589	frameshift_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133220099_133220100delCA		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4337_4338delTG	12.37:g.133220109_133220110delCA	ENSP00000322570:p.Val1447fs					POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Frame_Shift_Del_p.V250fs|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Frame_Shift_Del_p.V1419fs	p.V1446fs	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	34	4381_4382	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1446					Q13533|Q86VH9	Frame_Shift_Del	DEL	ENST00000320574.5	37	c.4337_4338delTG	CCDS9278.1																																																																																				0.604	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231	
FAM124A	220108	broad.mit.edu	37	13	51825705	51825705	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr13:51825705G>A	ENST00000322475.8	+	3	337	c.202G>A	c.(202-204)Gtc>Atc	p.V68I	FAM124A_ENST00000280057.6_Missense_Mutation_p.V104I	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	68										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CATCGACAACGTCCTGGCGTG	0.682																																						uc001vfg.1																			0				central_nervous_system(1)	1						c.(202-204)GTC>ATC		hypothetical protein LOC220108							26.0	23.0	24.0					13																	51825705		2203	4300	6503	SO:0001583	missense	220108							g.chr13:51825705G>A	AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.202G>A	13.37:g.51825705G>A	ENSP00000324625:p.Val68Ile					FAM124A_uc001vfe.2_Missense_Mutation_p.V68I|FAM124A_uc001vff.1_Missense_Mutation_p.V104I	p.V68I	NM_145019	NP_659456	Q86V42	F124A_HUMAN		GBM - Glioblastoma multiforme(99;4.25e-07)	3	333	+		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)	68					A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	ENST00000322475.8	37	c.202G>A	CCDS55900.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.913792	0.72983	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.41758	0.99;0.99	5.79	4.89	0.63831	.	0.149802	0.45126	D	0.000390	T	0.45115	0.1326	L	0.47716	1.5	0.37949	D	0.932572	D;D;P	0.60575	0.988;0.973;0.621	P;B;B	0.50934	0.654;0.437;0.12	T	0.42666	-0.9438	10	0.37606	T	0.19	-21.3215	13.2784	0.60200	0.0:0.3021:0.6979:0.0	.	68;104;68	Q86V42;Q86V42-2;Q86V42-3	F124A_HUMAN;.;.	I	68;104	ENSP00000324625:V68I;ENSP00000280057:V104I	ENSP00000280057:V104I	V	+	1	0	FAM124A	50723706	1.000000	0.71417	0.970000	0.41538	0.984000	0.73092	3.626000	0.54245	2.735000	0.93741	0.655000	0.94253	GTC		0.682	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019	
FOXG1	2290	broad.mit.edu	37	14	29236624	29236626	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr14:29236624_29236626delCAC	ENST00000313071.4	+	1	338_340	c.139_141delCAC	c.(139-141)cacdel	p.H57del	RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA|FOXG1_ENST00000382535.3_In_Frame_Del_p.H57del|RP11-966I7.1_ENST00000546560.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	57	His-rich.				aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		ccacccccagcaccaccaccacc	0.744																																						uc001wqe.2																			0				ovary(2)|lung(2)	4						c.(139-141)CACdel		forkhead box G1				130,3588		4,122,1733						1.2	0.0			27	280,6952		9,262,3345	no	coding	FOXG1	NM_005249.3		13,384,5078	A1A1,A1R,RR		3.8717,3.4965,3.7443				410,10540				SO:0001651	inframe_deletion	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|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	g.chr14:29236624_29236626delCAC		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.139_141delCAC	14.37:g.29236633_29236635delCAC	ENSP00000339004:p.His57del						p.H57del	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	338_340	+			57			His-rich.		A6NFY2|P55315|Q14488|Q86XT7	In_Frame_Del	DEL	ENST00000313071.4	37	c.139_141delCAC	CCDS9636.1																																																																																				0.744	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3		
FOXA1	3169	broad.mit.edu	37	14	38061904	38061904	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr14:38061904C>T	ENST00000250448.2	-	2	146	c.85G>A	c.(85-87)Gtc>Atc	p.V29I	FOXA1_ENST00000540786.1_5'UTR|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	29					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CTGACCGGGACGGAGGAGTAG	0.632																																						uc001wuf.2																			0					0						c.(85-87)GTC>ATC		forkhead box A1							132.0	114.0	120.0					14																	38061904		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding	g.chr14:38061904C>T	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.85G>A	14.37:g.38061904C>T	ENSP00000250448:p.Val29Ile					FOXA1_uc010tpz.1_5'UTR	p.V29I	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	397	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		29					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.85G>A	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531667	0.64972	.	.	ENSG00000129514	ENST00000250448	T	0.18657	2.2	4.16	4.16	0.48862	Fork-head N-terminal (1);	1.878880	0.02993	N	0.147096	T	0.32704	0.0838	L	0.46157	1.445	0.80722	D	1	D	0.54397	0.966	P	0.47134	0.539	T	0.22626	-1.0211	10	0.38643	T	0.18	.	16.2573	0.82524	0.0:1.0:0.0:0.0	.	29	P55317	FOXA1_HUMAN	I	29	ENSP00000250448:V29I	ENSP00000250448:V29I	V	-	1	0	FOXA1	37131655	0.992000	0.36948	0.992000	0.48379	0.994000	0.84299	3.749000	0.55150	2.135000	0.66039	0.561000	0.74099	GTC		0.632	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1		
UNC13C	440279	broad.mit.edu	37	15	54556392	54556392	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr15:54556392G>A	ENST00000260323.11	+	8	3475	c.3475G>A	c.(3475-3477)Ggt>Agt	p.G1159S	UNC13C_ENST00000537900.1_Missense_Mutation_p.G1157S|UNC13C_ENST00000545554.1_Missense_Mutation_p.G1159S	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1159					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTCTAAACATGGTGCCGAAGA	0.398																																						uc002ack.2																			0				ovary(5)|pancreas(2)	7						c.(3475-3477)GGT>AGT		unc-13 homolog C							53.0	48.0	50.0					15																	54556392		1881	4099	5980	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54556392G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3475G>A	15.37:g.54556392G>A	ENSP00000260323:p.Gly1159Ser					UNC13C_uc002acl.2_5'UTR	p.G1159S	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	7	3475	+			1159					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.3475G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	35	5.424672	0.96111	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.80480	-1.38;-1.38;-1.38	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.91023	0.7176	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91626	0.5315	10	0.66056	D	0.02	.	18.8463	0.92208	0.0:0.0:1.0:0.0	.	1159	Q8NB66	UN13C_HUMAN	S	1159;1159;1157	ENSP00000260323:G1159S;ENSP00000438156:G1159S;ENSP00000442569:G1157S	ENSP00000260323:G1159S	G	+	1	0	UNC13C	52343684	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.760000	0.94817	0.655000	0.94253	GGT		0.398	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
ABHD17C	58489	broad.mit.edu	37	15	81041941	81041941	+	Silent	SNP	C	C	T	rs372424183		TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr15:81041941C>T	ENST00000258884.4	+	2	805	c.678C>T	c.(676-678)tgC>tgT	p.C226C	ABHD17C_ENST00000560609.1_5'UTR|ABHD17C_ENST00000558464.1_Intron|ABHD17C_ENST00000559506.1_3'UTR	NM_021214.1	NP_067037.1	Q6PCB6	AB17C_HUMAN	abhydrolase domain containing 17C	226							hydrolase activity (GO:0016787)										GGTATGAATGCGCAGCGGTAA	0.507																																						uc002bfu.2																			0					0						c.(676-678)TGC>TGT		hypothetical protein LOC58489		C		0,4050		0,0,2025	160.0	160.0	160.0		678	-4.4	0.6	15		160	1,8339		0,1,4169	no	coding-synonymous	FAM108C1	NM_021214.1		0,1,6194	TT,TC,CC		0.012,0.0,0.0081		226/330	81041941	1,12389	2025	4170	6195	SO:0001819	synonymous_variant	58489						hydrolase activity	g.chr15:81041941C>T		CCDS45323.1	15q25.1	2013-03-15	2013-03-15	2013-03-15	ENSG00000136379	ENSG00000136379		"""Abhydrolase domain containing"""	26925	protein-coding gene	gene with protein product			"""family with sequence similarity 108, member C1"""	FAM108C1			Standard	NM_021214		Approved		uc002bfu.3	Q6PCB6		ENST00000258884.4:c.678C>T	15.37:g.81041941C>T						FAM108C1_uc002bft.2_Intron	p.C226C	NM_021214	NP_067037	Q6PCB6	F108C_HUMAN			2	797	+			226					Q1RMD6|Q9NPM1	Silent	SNP	ENST00000258884.4	37	c.678C>T	CCDS45323.1																																																																																				0.507	ABHD17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417652.1	NM_021214	
SLC28A1	9154	broad.mit.edu	37	15	85448820	85448820	+	Silent	SNP	A	A	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr15:85448820A>T	ENST00000286749.3	+	7	744	c.654A>T	c.(652-654)ggA>ggT	p.G218G	SLC28A1_ENST00000537703.1_Silent_p.G140G|SLC28A1_ENST00000538177.1_Silent_p.G218G|SLC28A1_ENST00000394573.1_Silent_p.G218G|SLC28A1_ENST00000537624.1_Silent_p.G218G|SLC28A1_ENST00000537216.1_Silent_p.G218G			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	218					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	TTGTACTTGGACTCCTCGTCA	0.567																																						uc002blg.2																			0				skin(2)|ovary(1)	3						c.(652-654)GGA>GGT		solute carrier family 28, member 1 isoform 1							220.0	176.0	191.0					15																	85448820		2203	4299	6502	SO:0001819	synonymous_variant	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85448820A>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.654A>T	15.37:g.85448820A>T						SLC28A1_uc010upd.1_Silent_p.G140G|SLC28A1_uc010bnb.2_Silent_p.G218G|SLC28A1_uc010upe.1_Silent_p.G218G|SLC28A1_uc010upf.1_Silent_p.G218G|SLC28A1_uc010upg.1_Silent_p.G218G	p.G218G	NM_004213	NP_004204	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		8	856	+			218			Helical; (Potential).		A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Silent	SNP	ENST00000286749.3	37	c.654A>T	CCDS10334.1																																																																																				0.567	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2		
IL4R	3566	broad.mit.edu	37	16	27357926	27357926	+	Missense_Mutation	SNP	A	A	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr16:27357926A>T	ENST00000395762.2	+	6	759	c.500A>T	c.(499-501)aAc>aTc	p.N167I	IL4R_ENST00000449195.1_Missense_Mutation_p.N167I|IL4R_ENST00000380922.3_Missense_Mutation_p.N152I|IL4R_ENST00000170630.2_Missense_Mutation_p.N167I|IL4R_ENST00000543915.2_Missense_Mutation_p.N167I	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	167	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TGGAGTGAAAACGACCCGGCA	0.542																																						uc002don.2																			0				ovary(1)|skin(1)	2						c.(499-501)AAC>ATC		interleukin 4 receptor alpha chain isoform a							125.0	121.0	122.0					16																	27357926		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27357926A>T	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.500A>T	16.37:g.27357926A>T	ENSP00000379111:p.Asn167Ile					IL4R_uc002dom.2_Missense_Mutation_p.N167I|IL4R_uc002dop.3_Missense_Mutation_p.N152I|IL4R_uc010bxy.2_Missense_Mutation_p.N167I|IL4R_uc002doo.2_Missense_Mutation_p.T9S	p.N167I	NM_000418	NP_000409	P24394	IL4RA_HUMAN			6	742	+			167			Extracellular (Potential).|Fibronectin type-III.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.500A>T	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	A	9.009	0.982046	0.18812	.	.	ENSG00000077238	ENST00000380925;ENST00000449195;ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4	3.63	-0.0634	0.13777	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53562	0.1804	L	0.51422	1.61	0.09310	N	1	P;P;P	0.44139	0.827;0.634;0.802	B;B;B	0.41917	0.145;0.089;0.37	T	0.46205	-0.9208	9	0.41790	T	0.15	-14.1093	0.9552	0.01384	0.497:0.199:0.1119:0.1922	.	152;167;167	B4E076;P24394;P24394-2	.;IL4RA_HUMAN;.	I	167;167;167;167;152;167	ENSP00000410322:N167I;ENSP00000379111:N167I;ENSP00000441667:N167I;ENSP00000370309:N152I;ENSP00000170630:N167I	ENSP00000170630:N167I	N	+	2	0	IL4R	27265427	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	0.795000	0.26972	-0.047000	0.13423	0.383000	0.25322	AAC		0.542	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4		
ZNF319	57567	broad.mit.edu	37	16	58030933	58030933	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr16:58030933C>T	ENST00000299237.2	-	2	1859	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CGCAGCAGCTCGGCAGATTGG	0.647																																						uc002emx.1																			0					0						c.(1237-1239)GAG>AAG		zinc finger protein 319							43.0	45.0	44.0					16																	58030933		2198	4300	6498	SO:0001583	missense	57567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58030933C>T	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.1237G>A	16.37:g.58030933C>T	ENSP00000299237:p.Glu413Lys						p.E413K	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN			2	1860	-			413			C2H2-type 11; degenerate.		Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	c.1237G>A	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319100	0.23994	.	.	ENSG00000166188	ENST00000299237	T	0.60299	0.2	5.21	4.24	0.50183	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.53190	0.1781	N	0.13198	0.31	0.58432	D	0.999998	D	0.89917	1.0	D	0.63381	0.914	T	0.46205	-0.9208	10	0.08179	T	0.78	-25.153	14.162	0.65452	0.151:0.8489:0.0:0.0	.	413	Q9P2F9	ZN319_HUMAN	K	413	ENSP00000299237:E413K	ENSP00000299237:E413K	E	-	1	0	ZNF319	56588434	1.000000	0.71417	0.994000	0.49952	0.006000	0.05464	6.073000	0.71245	1.168000	0.42723	-0.181000	0.13052	GAG		0.647	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1		
HYDIN	54768	broad.mit.edu	37	16	70917863	70917863	+	Silent	SNP	G	G	A	rs553587582		TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr16:70917863G>A	ENST00000393567.2	-	59	10089	c.9939C>T	c.(9937-9939)gcC>gcT	p.A3313A		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3313					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.A3312A(1)|p.A3264A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AAAGAATGCCGGCAGGGTGGA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		21989	0.0		0.001	False		,,,				2504	0.0					uc002ezr.2																			2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)|skin(1)	2						c.(9934-9936)GCC>GCT		hydrocephalus inducing isoform a							55.0	58.0	57.0					16																	70917863		1955	4146	6101	SO:0001819	synonymous_variant	54768							g.chr16:70917863G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.9939C>T	16.37:g.70917863G>A							p.A3312A	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			59	10064	-		Ovarian(137;0.0654)	3313					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.9936C>T	CCDS59269.1																																																																																				0.522	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
MYBBP1A	10514	broad.mit.edu	37	17	4449142	4449142	+	Splice_Site	SNP	G	G	C	rs562745701	byFrequency	TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr17:4449142G>C	ENST00000254718.4	-	14	2226	c.1920C>G	c.(1918-1920)atC>atG	p.I640M	MYBBP1A_ENST00000381556.2_Splice_Site_p.I640M			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	640					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AGGACCCACCGATGGTCTTGG	0.652																																						uc002fyb.3																			0				ovary(1)|skin(1)	2						c.(1918-1920)ATC>ATG		MYB binding protein 1a isoform 2							25.0	25.0	25.0					17																	4449142		2203	4300	6503	SO:0001630	splice_region_variant	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4449142G>C	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.1921+1C>G	17.37:g.4449142G>C						MYBBP1A_uc002fxz.3_Missense_Mutation_p.I640M|MYBBP1A_uc010vsa.1_5'Flank	p.I640M	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN			14	1982	-			640					Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.1920C>G	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	g	12.09	1.834459	0.32421	.	.	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.69806	-0.43;-0.43	4.52	-1.59	0.08453	Armadillo-type fold (1);	1.614790	0.02722	N	0.114134	T	0.45276	0.1334	N	0.08118	0	0.09310	N	1	P;P	0.48503	0.911;0.891	P;B	0.44597	0.454;0.325	T	0.37126	-0.9719	10	0.48119	T	0.1	-9.4075	0.6623	0.00845	0.3314:0.1577:0.3373:0.1736	.	640;640	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	M	640	ENSP00000370968:I640M;ENSP00000254718:I640M	ENSP00000254718:I640M	I	-	3	3	MYBBP1A	4395891	0.000000	0.05858	0.000000	0.03702	0.474000	0.32979	-0.161000	0.10026	-0.193000	0.10415	0.542000	0.68232	ATC		0.652	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520	Missense_Mutation
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A	rs587780070		TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr17:7578395G>A	ENST00000269305.4	-	5	724	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000420246.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y	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.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(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.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(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)	CAGCGCTCATGGTGGGGGCAG	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		197	Substitution - Missense(143)|Deletion - In frame(25)|Deletion - Frameshift(19)|Whole gene deletion(8)|Complex - deletion inframe(1)|Complex - compound substitution(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.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(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.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)	skin(28)|upper_aerodigestive_tract(27)|large_intestine(27)|lung(27)|breast(18)|haematopoietic_and_lymphoid_tissue(11)|oesophagus(11)|central_nervous_system(8)|ovary(8)|stomach(7)|liver(7)|bone(5)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|cervix(1)|vulva(1)|eye(1)|kidney(1)|endometrium(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM067054	TP53	M		c.(535-537)CAT>TAT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							47.0	47.0	47.0					17																	7578395		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.chr17:7578395G>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.535C>T	17.37:g.7578395G>A	ENSP00000269305:p.His179Tyr	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.H179Y|TP53_uc002gih.2_Missense_Mutation_p.H179Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47Y|TP53_uc010cng.1_Missense_Mutation_p.H47Y|TP53_uc002gii.1_Missense_Mutation_p.H47Y|TP53_uc010cnh.1_Missense_Mutation_p.H179Y|TP53_uc010cni.1_Missense_Mutation_p.H179Y|TP53_uc002gij.2_Missense_Mutation_p.H179Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86Y|TP53_uc002gio.2_Missense_Mutation_p.H47Y|TP53_uc010vug.1_Missense_Mutation_p.H140Y	p.H179Y	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	729	-		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.535C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137178	0.94517	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.59	5.59	0.84812	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	0.99914	0.9959	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.992;1.0;0.989;1.0;0.999;1.0;0.997	D;D;D;D;D;D;D	0.97110	0.953;0.997;0.941;1.0;0.993;0.995;0.958	D	0.96190	0.9137	10	0.87932	D	0	-15.4889	17.4784	0.87667	0.0:0.0:1.0:0.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179Y;ENSP00000352610:H179Y;ENSP00000269305:H179Y;ENSP00000398846:H179Y;ENSP00000391127:H179Y;ENSP00000391478:H179Y;ENSP00000425104:H47Y;ENSP00000423862:H86Y	ENSP00000269305:H179Y	H	-	1	0	TP53	7519120	1.000000	0.71417	0.990000	0.47175	0.864000	0.49448	9.813000	0.99286	2.804000	0.96469	0.655000	0.94253	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MYOCD	93649	broad.mit.edu	37	17	12656063	12656063	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr17:12656063G>A	ENST00000343344.4	+	10	1458	c.1458G>A	c.(1456-1458)ccG>ccA	p.P486P	MYOCD_ENST00000425538.1_Silent_p.P486P|AC005358.1_ENST00000609971.1_Silent_p.P390P|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	486	Ser-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCCTGCACCCGTCCCCAGTCC	0.632																																						uc002gnn.2																			0				central_nervous_system(2)|skin(2)|ovary(1)	5						c.(1456-1458)CCG>CCA		myocardin isoform 2							53.0	52.0	52.0					17																	12656063		2203	4300	6503	SO:0001819	synonymous_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12656063G>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1458G>A	17.37:g.12656063G>A						MYOCD_uc002gno.2_Silent_p.P486P|MYOCD_uc002gnp.1_Silent_p.P390P|MYOCD_uc002gnq.2_Silent_p.P205P	p.P486P	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	1757	+			486			Ser-rich.		Q5UBU5|Q8N7Q1	Silent	SNP	ENST00000343344.4	37	c.1458G>A	CCDS11163.1																																																																																				0.632	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604	
LRRC30	339291	broad.mit.edu	37	18	7231554	7231554	+	Nonsense_Mutation	SNP	C	C	T	rs555867414		TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr18:7231554C>T	ENST00000383467.2	+	1	432	c.418C>T	c.(418-420)Cga>Tga	p.R140*		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	140										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GAGCTTGTGCCGAAAGCTGGA	0.572																																						uc010wzk.1																			0				ovary(1)|liver(1)	2						c.(418-420)CGA>TGA		leucine rich repeat containing 30							43.0	49.0	47.0					18																	7231554		2081	4213	6294	SO:0001587	stop_gained	339291							g.chr18:7231554C>T		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.418C>T	18.37:g.7231554C>T	ENSP00000372959:p.Arg140*						p.R140*	NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN			1	418	+			140						Nonsense_Mutation	SNP	ENST00000383467.2	37	c.418C>T	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.499296	0.85069	.	.	ENSG00000206422	ENST00000383467	.	.	.	5.65	-1.42	0.08913	.	0.417706	0.29799	N	0.011167	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	10.8955	0.47021	0.4109:0.4858:0.0:0.1033	.	.	.	.	X	140	.	ENSP00000372959:R140X	R	+	1	2	LRRC30	7221554	0.775000	0.28604	0.095000	0.20976	0.943000	0.58893	1.700000	0.37815	-0.074000	0.12820	-0.271000	0.10264	CGA		0.572	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678	
MIB1	57534	broad.mit.edu	37	18	19395686	19395686	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr18:19395686G>A	ENST00000261537.6	+	11	1853	c.1589G>A	c.(1588-1590)cGa>cAa	p.R530Q	SNORA73_ENST00000363107.1_RNA|MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	530					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			AACAAGCGCCGACAGACACCA	0.438																																						uc002ktq.2																			0				ovary(4)	4						c.(1588-1590)CGA>CAA		mindbomb homolog 1							108.0	99.0	102.0					18																	19395686		2203	4300	6503	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19395686G>A	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1589G>A	18.37:g.19395686G>A	ENSP00000261537:p.Arg530Gln					MIB1_uc002ktp.2_Missense_Mutation_p.R169Q	p.R530Q	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		11	1589	+			530			ANK 4.		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.1589G>A	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	G	30	5.057281	0.93846	.	.	ENSG00000101752	ENST00000261537	T	0.15603	2.41	4.91	4.91	0.64330	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.15955	0.0384	N	0.02286	-0.61	0.58432	D	0.999999	D	0.54964	0.969	P	0.59761	0.863	T	0.46400	-0.9194	10	0.20046	T	0.44	-10.3713	18.4476	0.90690	0.0:0.0:1.0:0.0	.	530	Q86YT6	MIB1_HUMAN	Q	530	ENSP00000261537:R530Q	ENSP00000261537:R530Q	R	+	2	0	MIB1	17649684	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	7.948000	0.87774	2.425000	0.82216	0.655000	0.94253	CGA		0.438	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774	
SERPINB11	89778	broad.mit.edu	37	18	61377523	61377523	+	RNA	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr18:61377523G>A	ENST00000382749.5	+	0	341				SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TCTTTTCTTCGCTGAGTCTGC	0.433																																					Ovarian(27;496 784 5942 8975 23930)	uc002ljk.3																			0				breast(1)	1						c.(94-96)TCG>TCA		serpin peptidase inhibitor, clade B, member 11							127.0	118.0	121.0					18																	61377523		1915	4144	6059			89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61377523G>A			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61377523G>A						SERPINB11_uc010xes.1_5'UTR|SERPINB11_uc010dqd.2_5'UTR|SERPINB11_uc002ljj.3_5'UTR|SERPINB11_uc010dqe.2_5'UTR|SERPINB11_uc010dqf.2_Silent_p.S32S	p.S32S	NM_080475	NP_536723	Q96P15	SPB11_HUMAN			2	158	+		Esophageal squamous(42;0.129)	32					A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Silent	SNP	ENST00000382749.5	37	c.96G>A																																																																																					0.433	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475	
SALL3	27164	broad.mit.edu	37	18	76753193	76753193	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr18:76753193C>T	ENST00000537592.2	+	2	1202	c.1202C>T	c.(1201-1203)cCg>cTg	p.P401L	SALL3_ENST00000536229.3_Missense_Mutation_p.P268L|SALL3_ENST00000575389.2_Missense_Mutation_p.P401L	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	401					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		AAGGGCAAGCCGCCCAATGTG	0.662																																						uc002lmt.2																			0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1201-1203)CCG>CTG		sal-like 3							21.0	17.0	18.0					18																	76753193		2202	4299	6501	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753193C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1202C>T	18.37:g.76753193C>T	ENSP00000441823:p.Pro401Leu					SALL3_uc010dra.2_Missense_Mutation_p.P8L	p.P401L	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	1202	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	401					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.1202C>T	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880913	0.33255	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.12039	2.72	4.54	4.54	0.55810	.	0.000000	0.56097	D	0.000035	T	0.27313	0.0670	M	0.72576	2.205	0.80722	D	1	D;P	0.56968	0.978;0.822	P;B	0.50162	0.633;0.263	T	0.06917	-1.0800	10	0.56958	D	0.05	-34.9402	17.489	0.87698	0.0:1.0:0.0:0.0	.	133;401	F5GXY4;Q9BXA9	.;SALL3_HUMAN	L	401;401;133	ENSP00000441823:P401L	ENSP00000299466:P401L	P	+	2	0	SALL3	74854181	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	5.635000	0.67841	2.352000	0.79861	0.460000	0.39030	CCG		0.662	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999	
HCN2	610	broad.mit.edu	37	19	605149	605149	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:605149G>A	ENST00000251287.2	+	3	1198	c.1145G>A	c.(1144-1146)gGc>gAc	p.G382D		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	382					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTGGGACGGCTGCCTGCAG	0.617																																					Melanoma(145;1175 2427 8056 36306)	uc002lpe.2																			0					0						c.(1144-1146)GGC>GAC		hyperpolarization activated cyclic							98.0	78.0	84.0					19																	605149		2203	4298	6501	SO:0001583	missense	610				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr19:605149G>A	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.1145G>A	19.37:g.605149G>A	ENSP00000251287:p.Gly382Asp						p.G382D	NM_001194	NP_001185	Q9UL51	HCN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1198	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	382			Helical; Name=Segment S5; (Potential).		O60742|O60743|O75267|Q9UBS2	Missense_Mutation	SNP	ENST00000251287.2	37	c.1145G>A	CCDS12035.1	.	.	.	.	.	.	.	.	.	.	.	27.8	4.864884	0.91511	.	.	ENSG00000099822	ENST00000251287	D	0.97752	-4.52	3.68	3.68	0.42216	Ion transport (1);	.	.	.	.	D	0.98877	0.9620	M	0.92367	3.3	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.99537	1.0962	9	0.87932	D	0	.	14.3497	0.66691	0.0:0.0:1.0:0.0	.	382	Q9UL51	HCN2_HUMAN	D	382	ENSP00000251287:G382D	ENSP00000251287:G382D	G	+	2	0	HCN2	556149	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.631000	0.98424	1.766000	0.52107	0.394000	0.25966	GGC		0.617	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194	
REEP6	92840	broad.mit.edu	37	19	1496383	1496383	+	Missense_Mutation	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:1496383G>T	ENST00000233596.3	+	4	552	c.448G>T	c.(448-450)Gcc>Tcc	p.A150S		NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6	150			A -> D (in dbSNP:rs2271412).		regulation of intracellular transport (GO:0032386)	apical part of cell (GO:0045177)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACCACGGGGCCGTAGACAG	0.657																																						uc002ltc.2																			0					0						c.(448-450)GCC>TCC		receptor accessory protein 6							69.0	68.0	68.0					19																	1496383		2203	4299	6502	SO:0001583	missense	92840					integral to membrane		g.chr19:1496383G>T	BC008201	CCDS12070.1	19p13.3	2012-12-20	2006-02-08	2006-02-07	ENSG00000115255	ENSG00000115255		"""Receptor accessory proteins"""	30078	protein-coding gene	gene with protein product	"""polyposis locus protein 1-like 1"", ""deleted in polyposis 1-like 1"""	609346	"""chromosome 19 open reading frame 32"""	C19orf32		16271481, 15550249	Standard	NM_138393		Approved	DP1L1, FLJ25383	uc002ltc.3	Q96HR9	OTTHUMG00000180072	ENST00000233596.3:c.448G>T	19.37:g.1496383G>T	ENSP00000233596:p.Ala150Ser						p.A150S	NM_138393	NP_612402	Q96HR9	REEP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	552	+		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)	150					B2RE01|D6W5Z0|Q96LM0	Missense_Mutation	SNP	ENST00000233596.3	37	c.448G>T	CCDS12070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.125|0.125	-1.120528|-1.120528	0.01785|0.01785	.|.	.|.	ENSG00000115255|ENSG00000115255	ENST00000233596;ENST00000395479|ENST00000395484	T|.	0.41400|.	1.0|.	4.97|4.97	-0.974|-0.974	0.10293|0.10293	.|.	.|.	.|.	.|.	.|.	T|T	0.23330|0.23330	0.0564|0.0564	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B|.	0.20780|.	0.048|.	B|.	0.20184|.	0.028|.	T|T	0.28490|0.28490	-1.0042|-1.0042	9|6	0.09590|0.49607	T|T	0.72|0.09	-3.4721|-3.4721	4.355|4.355	0.11174|0.11174	0.0754:0.2242:0.4438:0.2566|0.0754:0.2242:0.4438:0.2566	.|.	150|.	Q96HR9|.	REEP6_HUMAN|.	S|V	150|217	ENSP00000233596:A150S|.	ENSP00000233596:A150S|ENSP00000378865:G217V	A|G	+|+	1|2	0|0	REEP6|REEP6	1447383|1447383	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.007000|0.007000	0.05969|0.05969	0.270000|0.270000	0.18607|0.18607	0.094000|0.094000	0.17404|0.17404	-0.330000|-0.330000	0.08379|0.08379	GCC|GGC		0.657	REEP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449623.1	NM_138393	
ADAT3	113179	broad.mit.edu	37	19	1912807	1912807	+	Missense_Mutation	SNP	G	G	T	rs556568423	byFrequency	TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:1912807G>T	ENST00000602400.1	+	2	941	c.713G>T	c.(712-714)cGc>cTc	p.R238L	SCAMP4_ENST00000414057.2_Intron|SCAMP4_ENST00000316097.8_Intron|ADAT3_ENST00000329478.2_Missense_Mutation_p.R254L|SCAMP4_ENST00000409472.1_Intron			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	238					tRNA processing (GO:0008033)		hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCAGGGCCGCGGCACCTAC	0.741																																						uc002luh.2																			0				breast(1)|skin(1)	2						c.(712-714)CGC>CTC		tRNA-specific adenosine deaminase 3							5.0	7.0	6.0					19																	1912807		2009	3949	5958	SO:0001583	missense	113179				tRNA processing		hydrolase activity|zinc ion binding	g.chr19:1912807G>T	BC011824	CCDS12076.1, CCDS12076.2	19p13.3	2011-05-19	2011-05-19		ENSG00000213638	ENSG00000213638			25151	protein-coding gene	gene with protein product	"""tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)"""	615302	"""adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae)"""			12457566	Standard	NM_138422		Approved	TAD3	uc002luh.4	Q96EY9	OTTHUMG00000154591	ENST00000602400.1:c.713G>T	19.37:g.1912807G>T	ENSP00000473571:p.Arg238Leu					SCAMP4_uc002lui.1_Intron|SCAMP4_uc002luj.2_Intron|SCAMP4_uc002luk.2_Intron|SCAMP4_uc010dss.2_Intron	p.R238L	NM_138422	NP_612431	Q96EY9	ADAT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	941	+		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	238						Missense_Mutation	SNP	ENST00000602400.1	37	c.713G>T		.	.	.	.	.	.	.	.	.	.	g	12.10	1.835699	0.32421	.	.	ENSG00000213638	ENST00000329478	.	.	.	4.81	3.77	0.43336	Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.125944	0.49305	D	0.000141	T	0.54271	0.1848	M	0.62088	1.915	0.36315	D	0.857878	P	0.34815	0.47	B	0.36922	0.236	T	0.61242	-0.7102	9	0.39692	T	0.17	-17.1185	10.8414	0.46718	0.0937:0.0:0.9063:0.0	.	238	Q96EY9	ADAT3_HUMAN	L	238	.	ENSP00000332448:R238L	R	+	2	0	ADAT3	1863807	1.000000	0.71417	0.433000	0.26760	0.145000	0.21501	6.963000	0.76055	1.024000	0.39682	0.549000	0.68633	CGC		0.741	ADAT3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_138422	
ILF3	3609	broad.mit.edu	37	19	10794068	10794068	+	Silent	SNP	A	A	G			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:10794068A>G	ENST00000590261.1	+	14	1701	c.1701A>G	c.(1699-1701)caA>caG	p.Q567Q	ILF3_ENST00000588657.1_Silent_p.Q571Q|ILF3_ENST00000250241.8_Silent_p.Q567Q|ILF3_ENST00000589998.1_Silent_p.Q567Q|ILF3_ENST00000420083.1_Silent_p.Q567Q|ILF3_ENST00000407004.3_Silent_p.Q571Q|ILF3_ENST00000318511.3_Silent_p.Q567Q|ILF3_ENST00000449870.1_Silent_p.Q571Q|ILF3_ENST00000592763.1_Silent_p.Q571Q			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	567	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AGAAGTTCCAAGGTGCTGGTT	0.572																																						uc002mpn.2																			0				ovary(3)	3						c.(1699-1701)CAA>CAG		interleukin enhancer binding factor 3 isoform a							76.0	72.0	73.0					19																	10794068		2203	4300	6503	SO:0001819	synonymous_variant	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding	g.chr19:10794068A>G	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1701A>G	19.37:g.10794068A>G						ILF3_uc002mpm.2_Silent_p.Q571Q|ILF3_uc002mpl.2_Silent_p.Q567Q|ILF3_uc002mpk.2_Silent_p.Q567Q|ILF3_uc010xli.1_Silent_p.Q165Q|ILF3_uc002mpo.2_Silent_p.Q571Q|ILF3_uc002mpp.2_Silent_p.Q392Q|ILF3_uc002mpq.2_5'Flank	p.Q567Q	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		15	2018	+			567			DRBM 2.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	ENST00000590261.1	37	c.1701A>G	CCDS12246.1																																																																																				0.572	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1		
OR10H5	284433	broad.mit.edu	37	19	15905136	15905136	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:15905136C>T	ENST00000308940.8	+	1	376	c.278C>T	c.(277-279)gCc>gTc	p.A93V		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CGCTCCATCGCCTTCCTGGCC	0.607																																						uc010xos.1																			0				ovary(1)	1						c.(277-279)GCC>GTC		olfactory receptor, family 10, subfamily H,							87.0	76.0	80.0					19																	15905136		2203	4296	6499	SO:0001583	missense	284433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15905136C>T	AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"""GPCR / Class A : Olfactory receptors"""	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.278C>T	19.37:g.15905136C>T	ENSP00000310704:p.Ala93Val						p.A93V	NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN			1	278	+			93			Extracellular (Potential).		Q6IFJ0|Q96R60	Missense_Mutation	SNP	ENST00000308940.8	37	c.278C>T	CCDS32940.1	.	.	.	.	.	.	.	.	.	.	.	11.38	1.622396	0.28889	.	.	ENSG00000172519	ENST00000308940	D	0.83755	-1.76	3.47	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	1.462660	0.04425	N	0.368249	T	0.80116	0.4564	L	0.47190	1.495	0.09310	N	1	B	0.31174	0.311	B	0.29524	0.103	T	0.66941	-0.5796	10	0.87932	D	0	.	10.5195	0.44910	0.0:0.8002:0.1998:0.0	.	93	Q8NGA6	O10H5_HUMAN	V	93	ENSP00000310704:A93V	ENSP00000310704:A93V	A	+	2	0	OR10H5	15766136	0.001000	0.12720	0.006000	0.13384	0.499000	0.33736	1.530000	0.36007	0.539000	0.28788	-0.291000	0.09656	GCC		0.607	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1		
MYO9B	4650	broad.mit.edu	37	19	17312748	17312748	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:17312748G>A	ENST00000594824.1	+	27	4724	c.4577G>A	c.(4576-4578)cGt>cAt	p.R1526H	MYO9B_ENST00000595618.1_Missense_Mutation_p.R1526H|MYO9B_ENST00000397274.2_Missense_Mutation_p.R1526H			Q13459	MYO9B_HUMAN	myosin IXB	1526	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AATGACCTCCGTTCCCAGAAG	0.572																																						uc010eak.2																			0				breast(1)	1						c.(4576-4578)CGT>CAT		myosin IXB isoform 1							66.0	66.0	66.0					19																	17312748		1954	4156	6110	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17312748G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4577G>A	19.37:g.17312748G>A	ENSP00000471367:p.Arg1526His					MYO9B_uc002nfi.2_Missense_Mutation_p.R1526H|MYO9B_uc002nfj.1_Missense_Mutation_p.R1526H|MYO9B_uc002nfl.1_Missense_Mutation_p.R75H	p.R1526H	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			27	4729	+			1526			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.4577G>A		.	.	.	.	.	.	.	.	.	.	G	19.78	3.890774	0.72524	.	.	ENSG00000099331	ENST00000397274	D	0.84800	-1.9	4.82	4.82	0.62117	.	0.229485	0.30969	N	0.008505	D	0.88771	0.6527	L	0.59436	1.845	0.42968	D	0.994427	D;D;D;D	0.76494	0.996;0.999;0.996;0.998	P;D;P;P	0.64144	0.77;0.922;0.77;0.839	D	0.89146	0.3520	10	0.59425	D	0.04	.	10.522	0.44924	0.0894:0.0:0.9106:0.0	.	1526;1526;1526;1532	Q13459;Q13459-2;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.;.	H	1526	ENSP00000380444:R1526H	ENSP00000380444:R1526H	R	+	2	0	MYO9B	17173748	1.000000	0.71417	0.937000	0.37676	0.655000	0.38815	4.109000	0.57824	2.226000	0.72624	0.491000	0.48974	CGT		0.572	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1		
PIK3R2	5296	broad.mit.edu	37	19	18280016	18280016	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:18280016C>T	ENST00000593731.1	+	16	2659	c.2099C>T	c.(2098-2100)tCg>tTg	p.S700L	PIK3R2_ENST00000222254.8_Missense_Mutation_p.S700L			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	700	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	CAGCACGCCTCGCTGGTGCAG	0.721																																						uc002nia.1																			0				lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						c.(2098-2100)TCG>TTG		phosphoinositide-3-kinase, regulatory subunit 2							21.0	20.0	21.0					19																	18280016		2198	4295	6493	SO:0001583	missense	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18280016C>T		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.2099C>T	19.37:g.18280016C>T	ENSP00000471914:p.Ser700Leu					PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	p.S700L	NM_005027	NP_005018	O00459	P85B_HUMAN			16	2611	+			700			SH2 2.		Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	c.2099C>T	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	C	35	5.561918	0.96527	.	.	ENSG00000105647	ENST00000222254	T	0.54279	0.58	3.99	3.99	0.46301	SH2 motif (3);	0.000000	0.85682	D	0.000000	T	0.77798	0.4184	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84339	0.0526	10	0.87932	D	0	-21.773	15.912	0.79479	0.0:1.0:0.0:0.0	.	700	O00459	P85B_HUMAN	L	700	ENSP00000222254:S700L	ENSP00000222254:S700L	S	+	2	0	PIK3R2	18141016	1.000000	0.71417	0.766000	0.31476	0.971000	0.66376	7.621000	0.83083	2.181000	0.69327	0.462000	0.41574	TCG		0.721	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027	
TSHZ3	57616	broad.mit.edu	37	19	31769684	31769685	+	Frame_Shift_Ins	INS	-	-	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:31769684_31769685insT	ENST00000240587.4	-	2	1341_1342	c.1014_1015insA	c.(1012-1017)ggtggafs	p.G339fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	339					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTGGGGGTTCCACCTGTGGAAT	0.564																																						uc002nsy.3																			0				ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(1012-1017)GGTGGAfs		zinc finger protein 537																																				SO:0001589	frameshift_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769684_31769685insT	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1014_1015insA	19.37:g.31769684_31769685insT	ENSP00000240587:p.Gly339fs						p.G338fs	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	1079_1080	-	Esophageal squamous(110;0.226)		338_339					Q9H0G6|Q9P254	Frame_Shift_Ins	INS	ENST00000240587.4	37	c.1014_1015insA	CCDS12421.2																																																																																				0.564	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856	
SLC7A10	56301	broad.mit.edu	37	19	33706697	33706697	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:33706697C>T	ENST00000253188.4	-	2	480	c.334G>A	c.(334-336)Gag>Aag	p.E112K	CTD-2540B15.6_ENST00000590492.1_RNA	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	112			E -> D (in a family with cystinuria; dbSNP:rs79717007). {ECO:0000269|PubMed:11509015}.		amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CCGAAGATCTCTGTGACGTAG	0.657																																						uc002num.2																			0				ovary(1)|central_nervous_system(1)	2						c.(334-336)GAG>AAG		solute carrier family 7, member 10							36.0	31.0	33.0					19																	33706697		2169	4275	6444	SO:0001583	missense	56301				blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	g.chr19:33706697C>T	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"""Solute carriers"""	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.334G>A	19.37:g.33706697C>T	ENSP00000253188:p.Glu112Lys					SLC7A10_uc010xrq.1_Intron	p.E112K	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN			2	481	-	Esophageal squamous(110;0.137)		112		E -> D (in a family with cystinuria).			B2RE84	Missense_Mutation	SNP	ENST00000253188.4	37	c.334G>A	CCDS12431.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358888	0.95854	.	.	ENSG00000130876	ENST00000253188	D	0.89875	-2.58	4.79	4.79	0.61399	Amino acid permease domain (1);	0.111156	0.64402	D	0.000010	D	0.88548	0.6466	L	0.46885	1.475	0.80722	D	1	P	0.35575	0.51	B	0.42593	0.392	D	0.89143	0.3518	10	0.56958	D	0.05	.	16.8665	0.86030	0.0:1.0:0.0:0.0	.	112	Q9NS82	AAA1_HUMAN	K	112	ENSP00000253188:E112K	ENSP00000253188:E112K	E	-	1	0	SLC7A10	38398537	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	7.818000	0.86416	2.240000	0.73641	0.456000	0.33151	GAG		0.657	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849	
FAM71E1	112703	broad.mit.edu	37	19	50979619	50979619	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:50979619G>A	ENST00000600100.1	-	1	391	c.27C>T	c.(25-27)ctC>ctT	p.L9L	EMC10_ENST00000598585.1_5'Flank|FAM71E1_ENST00000595790.1_Silent_p.L9L|EMC10_ENST00000376918.3_5'Flank|EMC10_ENST00000334976.6_5'Flank			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	9										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		GCGGCTCCTGGAGATCAGGCC	0.682																																						uc002psh.2																			0				breast(1)	1						c.(25-27)CTC>CTT		hypothetical protein LOC112703							21.0	23.0	23.0					19																	50979619		2196	4280	6476	SO:0001819	synonymous_variant	112703							g.chr19:50979619G>A		CCDS33081.1	19q13.33	2007-11-20				ENSG00000142530			25107	protein-coding gene	gene with protein product							Standard	XM_005258472		Approved		uc002psg.3	Q6IPT2		ENST00000600100.1:c.27C>T	19.37:g.50979619G>A						FAM71E1_uc002psg.2_Silent_p.L9L|FAM71E1_uc002psi.2_RNA|C19orf63_uc002psj.2_5'Flank|C19orf63_uc002psk.2_5'Flank|C19orf63_uc002psl.2_5'Flank	p.L9L	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)	1	385	-		all_neural(266;0.131)	9					Q96EJ5|Q9BSM9	Silent	SNP	ENST00000600100.1	37	c.27C>T																																																																																					0.682	FAM71E1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464754.2		
ZNF776	284309	broad.mit.edu	37	19	58265771	58265771	+	Missense_Mutation	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:58265771G>T	ENST00000317178.5	+	3	1536	c.1273G>T	c.(1273-1275)Gtt>Ttt	p.V425F	ZNF776_ENST00000489376.1_3'UTR	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	425					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		ACACCAGAGAGTTCACACTGG	0.428																																						uc002qpx.2																			0				ovary(1)	1						c.(1273-1275)GTT>TTT		zinc finger protein 776							124.0	118.0	120.0					19																	58265771		2203	4300	6503	SO:0001583	missense	284309				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58265771G>T	AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.1273G>T	19.37:g.58265771G>T	ENSP00000321812:p.Val425Phe					ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Missense_Mutation_p.V425F	p.V425F	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)	3	1496	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	425			C2H2-type 8.		Q6ZS36|Q8N968	Missense_Mutation	SNP	ENST00000317178.5	37	c.1273G>T	CCDS12962.2	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344284	0.61073	.	.	ENSG00000152443	ENST00000317178	T	0.08102	3.13	1.86	-3.72	0.04411	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17492	0.0420	L	0.56769	1.78	0.19300	N	0.999976	D;D	0.76494	0.997;0.999	D;D	0.73708	0.969;0.981	T	0.08046	-1.0741	9	0.87932	D	0	.	4.8787	0.13668	0.5056:0.3241:0.1703:0.0	.	425;425	Q68DI1;B4DSC6	ZN776_HUMAN;.	F	425	ENSP00000321812:V425F	ENSP00000321812:V425F	V	+	1	0	ZNF776	62957583	0.000000	0.05858	0.009000	0.14445	0.790000	0.44656	-1.254000	0.02874	-0.871000	0.04042	0.313000	0.20887	GTT		0.428	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632	
BCL11A	53335	broad.mit.edu	37	2	60688453	60688453	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:60688453C>T	ENST00000335712.6	-	4	1821	c.1594G>A	c.(1594-1596)Gcg>Acg	p.A532T	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.A498T|BCL11A_ENST00000358510.4_Missense_Mutation_p.A498T|BCL11A_ENST00000537768.1_Missense_Mutation_p.A201T|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.A532T	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	532					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|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)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCCACGACCGCGCCCCGCGAG	0.697			T	IGH@	B-CLL																																	uc002sae.1				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(1594-1596)GCG>ACG		B-cell CLL/lymphoma 11A isoform 1							10.0	10.0	10.0					2																	60688453		2186	4244	6430	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688453C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1594G>A	2.37:g.60688453C>T	ENSP00000338774:p.Ala532Thr					BCL11A_uc002sab.2_Missense_Mutation_p.A532T|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.A201T|BCL11A_uc010ypj.1_Missense_Mutation_p.A498T|BCL11A_uc002sad.1_Missense_Mutation_p.A380T|BCL11A_uc002saf.1_Missense_Mutation_p.A498T	p.A532T	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1822	-			532					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1594G>A	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	5.016	0.188708	0.09547	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.08008	3.14;3.43;3.3;3.42;3.36	4.08	4.08	0.47627	.	1.000740	0.08066	U	0.999097	T	0.03827	0.0108	N	0.08118	0	0.29659	N	0.843375	B;B;B;P;B	0.44659	0.331;0.341;0.001;0.84;0.429	B;B;B;B;B	0.25614	0.062;0.011;0.0;0.06;0.035	T	0.13791	-1.0496	10	0.34782	T	0.22	-2.6692	12.0915	0.53728	0.0:1.0:0.0:0.0	.	498;201;498;532;532	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	T	532;557;498;201;532;498	ENSP00000349300:A532T;ENSP00000438303:A498T;ENSP00000443712:A201T;ENSP00000338774:A532T;ENSP00000351307:A498T	ENSP00000338774:A532T	A	-	1	0	BCL11A	60541957	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.028000	0.41088	2.563000	0.86464	0.650000	0.86243	GCG		0.697	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893	
MYO7B	4648	broad.mit.edu	37	2	128370138	128370138	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:128370138C>T	ENST00000409816.2	+	24	3312	c.3280C>T	c.(3280-3282)Cac>Tac	p.H1094Y	MYO7B_ENST00000389524.4_Missense_Mutation_p.H1094Y|MYO7B_ENST00000428314.1_Missense_Mutation_p.H1094Y			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1094	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGAGAAGGTGCACTTCATCGT	0.602																																						uc002top.2																			0				ovary(1)|pancreas(1)	2						c.(3280-3282)CAC>TAC		myosin VIIB							62.0	70.0	67.0					2																	128370138		2131	4242	6373	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128370138C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.3280C>T	2.37:g.128370138C>T	ENSP00000386461:p.His1094Tyr						p.H1094Y	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	25	3333	+	Colorectal(110;0.1)		1094			MyTH4 1.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.3280C>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	.	25.3	4.621209	0.87460	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.91945	-2.94;-2.94;-2.94	4.61	4.61	0.57282	MyTH4 domain (3);	0.122641	0.53938	D	0.000041	D	0.95297	0.8474	M	0.73372	2.23	0.58432	D	0.999996	D	0.63880	0.993	D	0.64595	0.927	D	0.96002	0.8994	10	0.87932	D	0	.	17.427	0.87529	0.0:1.0:0.0:0.0	.	1094	Q6PIF6	MYO7B_HUMAN	Y	1094	ENSP00000374175:H1094Y;ENSP00000415090:H1094Y;ENSP00000386461:H1094Y	ENSP00000374175:H1094Y	H	+	1	0	MYO7B	128086608	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.324000	0.79115	2.109000	0.64355	0.462000	0.41574	CAC		0.602	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001	
SCN9A	6335	broad.mit.edu	37	2	167056246	167056246	+	Missense_Mutation	SNP	A	A	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:167056246A>T	ENST00000409435.1	-	26	4902	c.4903T>A	c.(4903-4905)Ttt>Att	p.F1635I	SCN9A_ENST00000409672.1_Missense_Mutation_p.F1624I|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.F1636I|SCN9A_ENST00000375387.4_Missense_Mutation_p.F1636I			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1635					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.F1624V(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)	ATCAAAGCAAAGAGCAGCGTG	0.507																																						uc010fpl.2																			1	Substitution - Missense(1)		kidney(1)	ovary(6)|central_nervous_system(5)|skin(2)	13						c.(4870-4872)TTT>ATT		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						158.0	156.0	156.0					2																	167056246		2203	4300	6503	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167056246A>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.4903T>A	2.37:g.167056246A>T	ENSP00000386330:p.Phe1635Ile					uc002udp.2_RNA	p.F1624I	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			27	5211	-			1635			IV.		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.4870T>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.704114	0.88924	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98280	-4.84;-4.84;-4.84;-4.84	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000007	D	0.98921	0.9634	M	0.84326	2.69	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.99831	1.1054	10	0.87932	D	0	.	16.0249	0.80536	1.0:0.0:0.0:0.0	.	1624	E7EUN6	.	I	1624;1636;1636;1635	ENSP00000386306:F1624I;ENSP00000364536:F1636I;ENSP00000304748:F1636I;ENSP00000386330:F1635I	ENSP00000304748:F1636I	F	-	1	0	SCN9A	166764492	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.157000	0.94714	2.181000	0.69327	0.528000	0.53228	TTT		0.507	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
HOXD4	3233	broad.mit.edu	37	2	177017342	177017342	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:177017342C>T	ENST00000306324.3	+	2	852	c.440C>T	c.(439-441)cCc>cTc	p.P147L	MIR10B_ENST00000385011.1_RNA|HOXD3_ENST00000468418.3_Intron	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	147					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCAGTGAACCCCAACTACACC	0.597																																						uc002uks.2																			0				pancreas(1)	1						c.(439-441)CCC>CTC		homeobox D4							30.0	34.0	32.0					2																	177017342		2203	4300	6503	SO:0001583	missense	3233					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177017342C>T		CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"""Homeoboxes / ANTP class : HOXL subclass"""	5138	protein-coding gene	gene with protein product		142981	"""homeo box D4"""	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.440C>T	2.37:g.177017342C>T	ENSP00000302548:p.Pro147Leu						p.P147L	NM_014621	NP_055436	P09016	HXD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	2	689	+			147					B2R9R3|Q96AU0	Missense_Mutation	SNP	ENST00000306324.3	37	c.440C>T	CCDS2269.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017496	0.54576	.	.	ENSG00000170166	ENST00000306324	D	0.95447	-3.71	5.4	4.53	0.55603	Homeodomain-related (1);Homeodomain-like (1);	0.055533	0.64402	N	0.000001	D	0.96694	0.8921	M	0.88377	2.95	0.80722	D	1	P	0.50443	0.935	P	0.49561	0.615	D	0.96773	0.9570	10	0.87932	D	0	.	14.06	0.64793	0.0:0.9273:0.0:0.0727	.	147	P09016	HXD4_HUMAN	L	147	ENSP00000302548:P147L	ENSP00000302548:P147L	P	+	2	0	HOXD4	176725588	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.482000	0.81143	1.280000	0.44463	0.655000	0.94253	CCC		0.597	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2		
COL3A1	1281	broad.mit.edu	37	2	189858803	189858803	+	Missense_Mutation	SNP	G	G	A	rs187907868		TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:189858803G>A	ENST00000304636.3	+	17	1359	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	COL3A1_ENST00000317840.5_Missense_Mutation_p.E397K	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	397	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TGGTAAAGGCGAAATGGTAAG	0.373													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17374	0.0		0.0	False		,,,				2504	0.0					uc002uqj.1																			0				central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(1189-1191)GAA>AAA		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						142.0	139.0	140.0					2																	189858803		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189858803G>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1189G>A	2.37:g.189858803G>A	ENSP00000304408:p.Glu397Lys					COL3A1_uc010frw.1_RNA	p.E397K	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		17	1306	+			397			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.1189G>A	CCDS2297.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	12.94|12.94	2.088684|2.088684	0.36855|0.36855	.|.	.|.	ENSG00000168542|ENSG00000168542	ENST00000304636;ENST00000317840|ENST00000450867	D;D|.	0.94184|.	-3.18;-3.37|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|.	0.53938|.	D|.	0.000060|.	T|T	0.61578|0.61578	0.2358|0.2358	L|L	0.45285|0.45285	1.41|1.41	0.45216|0.45216	D|D	0.998229|0.998229	P|.	0.47962|.	0.903|.	B|.	0.40410|.	0.328|.	T|T	0.55049|0.55049	-0.8201|-0.8201	10|5	0.11182|.	T|.	0.66|.	.|.	15.0791|15.0791	0.72099|0.72099	0.0:0.1411:0.8589:0.0|0.0:0.1411:0.8589:0.0	.|.	397|.	P02461|.	CO3A1_HUMAN|.	K|Q	397|63	ENSP00000304408:E397K;ENSP00000315243:E397K|.	ENSP00000304408:E397K|.	E|R	+|+	1|2	0|0	COL3A1|COL3A1	189567048|189567048	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	3.862000|3.862000	0.56009|0.56009	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAA|CGA		0.373	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	
PRKAG3	53632	broad.mit.edu	37	2	219689035	219689035	+	Silent	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:219689035C>T	ENST00000529249.1	-	12	1578	c.1263G>A	c.(1261-1263)ctG>ctA	p.L421L	PRKAG3_ENST00000545803.1_Silent_p.L237L|PRKAG3_ENST00000439262.2_Silent_p.L396L			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	421					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	TCCTCTGCCTCAGGGCTTCTC	0.597																																						uc002vjb.1																			0				ovary(1)|lung(1)	2						c.(1261-1263)CTG>CTA		AMP-activated protein kinase, non-catalytic							81.0	78.0	79.0					2																	219689035		2203	4300	6503	SO:0001819	synonymous_variant	53632				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	g.chr2:219689035C>T	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.1263G>A	2.37:g.219689035C>T							p.L421L	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	12	1282	-		Renal(207;0.0474)	421					Q4QQG8|Q4V779|Q9NRL1	Silent	SNP	ENST00000529249.1	37	c.1263G>A	CCDS2424.1																																																																																				0.597	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1		
SEL1L2	80343	broad.mit.edu	37	20	13830942	13830942	+	Missense_Mutation	SNP	C	C	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr20:13830942C>A	ENST00000284951.5	-	19	1916	c.1842G>T	c.(1840-1842)ttG>ttT	p.L614F	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.L501F			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	614						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CCATGTCGTACAATCTTCTGG	0.453																																						uc010gcf.2																			0				ovary(2)	2						c.(1840-1842)TTG>TTT		sel-1 suppressor of lin-12-like 2 precursor							99.0	98.0	98.0					20																	13830942		1978	4160	6138	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13830942C>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1842G>T	20.37:g.13830942C>A	ENSP00000284951:p.Leu614Phe					SEL1L2_uc002woq.3_Missense_Mutation_p.L475F|SEL1L2_uc010zrl.1_Missense_Mutation_p.L501F|SEL1L2_uc002wor.2_RNA	p.L614F	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			19	1924	-			614			Extracellular (Potential).|Sel1-like 11.		B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1842G>T		.	.	.	.	.	.	.	.	.	.	C	6.373	0.436882	0.12104	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.55760	0.67;0.5	5.97	-3.07	0.05363	Tetratricopeptide-like helical (1);	0.000000	0.47852	D	0.000206	T	0.31827	0.0809	N	0.16903	0.455	0.37732	D	0.925308	B;P	0.42296	0.091;0.775	B;P	0.46718	0.042;0.525	T	0.42716	-0.9435	10	0.07030	T	0.85	-6.3176	8.3542	0.32321	0.0:0.3807:0.1066:0.5127	.	501;614	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	F	501;614	ENSP00000367312:L501F;ENSP00000284951:L614F	ENSP00000284951:L614F	L	-	3	2	SEL1L2	13778942	0.906000	0.30813	0.952000	0.39060	0.663000	0.39108	-0.371000	0.07513	-0.894000	0.03925	-1.631000	0.00782	TTG		0.453	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229	
ZBP1	81030	broad.mit.edu	37	20	56190589	56190589	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr20:56190589G>A	ENST00000371173.3	-	3	484	c.307C>T	c.(307-309)Cct>Tct	p.P103S	ZBP1_ENST00000343535.4_Missense_Mutation_p.P103S|ZBP1_ENST00000395822.3_Missense_Mutation_p.P28S|ZBP1_ENST00000541799.1_Missense_Mutation_p.P103S|ZBP1_ENST00000340462.4_Intron|ZBP1_ENST00000538947.1_5'UTR	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	103					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CTGAACTGAGGGCCAGGGGTC	0.592																																						uc002xyo.2																			0				ovary(2)	2						c.(307-309)CCT>TCT		Z-DNA binding protein 1 isoform a							120.0	104.0	110.0					20																	56190589		2203	4300	6503	SO:0001583	missense	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56190589G>A	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.307C>T	20.37:g.56190589G>A	ENSP00000360215:p.Pro103Ser					ZBP1_uc010gjm.2_Missense_Mutation_p.P103S|ZBP1_uc002xyp.2_Missense_Mutation_p.P28S|ZBP1_uc010zzn.1_Missense_Mutation_p.P103S	p.P103S	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		3	588	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		103			DRADA 2.		A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	c.307C>T	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728719	0.30593	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000357677;ENST00000343535;ENST00000541799	T;T;T;T	0.13307	3.1;2.77;3.05;2.6	3.46	-3.05	0.05396	.	1.753190	0.03336	N	0.194055	T	0.08133	0.0203	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.22080	0.055;0.033;0.064;0.064	B;B;B;B	0.17722	0.015;0.007;0.019;0.012	T	0.29058	-1.0024	10	0.19147	T	0.46	1.5639	4.1658	0.10306	0.3697:0.332:0.2983:0.0	.	103;103;28;103	F5GYT1;A2RRL9;A2A2F7;Q9H171	.;.;.;ZBP1_HUMAN	S	103;28;103;103;103	ENSP00000360215:P103S;ENSP00000379167:P28S;ENSP00000340584:P103S;ENSP00000440552:P103S	ENSP00000340584:P103S	P	-	1	0	ZBP1	55623995	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.621000	0.05559	-0.571000	0.06014	0.655000	0.94253	CCT		0.592	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776	
C1QTNF6	114904	broad.mit.edu	37	22	37578306	37578306	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr22:37578306G>A	ENST00000337843.2	-	3	834	c.759C>T	c.(757-759)cgC>cgT	p.R253R	C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000397110.2_Silent_p.R253R|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000255836.6_Silent_p.R129R	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	234	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TGGCGTTCTCGCGCTGGCGCT	0.652																																						uc003aqw.1																			0					0						c.(700-702)CGC>CGT		C1q and tumor necrosis factor related protein 6							78.0	68.0	71.0					22																	37578306		2203	4300	6503	SO:0001819	synonymous_variant	114904					collagen		g.chr22:37578306G>A	AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.759C>T	22.37:g.37578306G>A						C1QTNF6_uc003aqx.1_Silent_p.R253R|C1QTNF6_uc003aqy.1_Silent_p.R253R|C1QTNF6_uc003aqz.1_RNA	p.R234R	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN			2	1207	-			234			C1q.		Q5H9G8|Q6ZRM7	Silent	SNP	ENST00000337843.2	37	c.702C>T	CCDS13943.1																																																																																				0.652	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	NM_182486	
SH3BP1	23616	broad.mit.edu	37	22	38046222	38046222	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr22:38046222G>A	ENST00000357436.4	+	15	1693	c.1380G>A	c.(1378-1380)gcG>gcA	p.A460A	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000599616.1_Silent_p.A396A|SH3BP1_ENST00000442465.2_Missense_Mutation_p.R493H	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	460	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)	p.A460A(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					TCGTCGAGGCGCTGATCCAGA	0.632																																						uc003ati.2																			1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	central_nervous_system(1)	1						c.(1378-1380)GCG>GCA		SH3-domain binding protein 1							46.0	38.0	41.0					22																	38046222		2203	4300	6503	SO:0001819	synonymous_variant	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38046222G>A		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.1380G>A	22.37:g.38046222G>A						SH3BP1_uc003atg.1_RNA|SH3BP1_uc011anl.1_Missense_Mutation_p.R493H|SH3BP1_uc003ath.1_Silent_p.A460A|SH3BP1_uc003atj.1_Silent_p.A396A|SH3BP1_uc003atk.1_Silent_p.A374A|uc003atl.1_Intron	p.A460A	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN			15	1491	+	Melanoma(58;0.0574)		460			Rho-GAP.		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Silent	SNP	ENST00000357436.4	37	c.1380G>A	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763860	0.31228	.	.	ENSG00000100092	ENST00000442465	T	0.16324	2.35	5.65	-5.7	0.02421	.	.	.	.	.	T	0.09291	0.0229	.	.	.	0.46499	D	0.999074	B	0.02656	0.0	B	0.04013	0.001	T	0.27673	-1.0067	8	0.87932	D	0	.	1.1528	0.01790	0.1865:0.2348:0.1383:0.4405	.	493	F5GZA8	.	H	493	ENSP00000395126:R493H	ENSP00000395126:R493H	R	+	2	0	SH3BP1	36376168	0.000000	0.05858	0.865000	0.33974	0.498000	0.33706	-1.256000	0.02869	-0.789000	0.04498	0.563000	0.77884	CGC		0.632	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957	
SMC1B	27127	broad.mit.edu	37	22	45754668	45754668	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr22:45754668G>A	ENST00000357450.4	-	19	2869	c.2870C>T	c.(2869-2871)aCt>aTt	p.T957I	SMC1B_ENST00000404354.3_Missense_Mutation_p.T957I	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	957					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTCTGCTTCAGTTCCCATCTG	0.343																																						uc003bgc.2																			0				ovary(2)	2						c.(2869-2871)ACT>ATT		SMC1 structural maintenance of chromosomes							109.0	100.0	103.0					22																	45754668		1841	4088	5929	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45754668G>A	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.2870C>T	22.37:g.45754668G>A	ENSP00000350036:p.Thr957Ile					SMC1B_uc003bgd.2_Missense_Mutation_p.T957I	p.T957I	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	19	2922	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	957					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.2870C>T	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273898	0.40194	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.79247	-1.25;-1.12	6.07	3.87	0.44632	.	0.616415	0.14845	N	0.295037	T	0.76765	0.4033	L	0.49350	1.555	0.26223	N	0.979137	P;B	0.40000	0.698;0.01	P;B	0.44946	0.465;0.012	T	0.67488	-0.5658	10	0.35671	T	0.21	.	13.333	0.60500	0.0:0.1215:0.752:0.1265	.	957;957	Q8NDV3-2;Q8NDV3-3	.;.	I	957	ENSP00000350036:T957I;ENSP00000385902:T957I	ENSP00000350036:T957I	T	-	2	0	SMC1B	44133332	0.952000	0.32445	0.768000	0.31515	0.976000	0.68499	3.504000	0.53347	1.541000	0.49316	0.650000	0.86243	ACT		0.343	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674	
GRM7	2917	broad.mit.edu	37	3	6903256	6903256	+	Missense_Mutation	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr3:6903256G>T	ENST00000357716.4	+	1	455	c.181G>T	c.(181-183)Ggt>Tgt	p.G61C	GRM7_ENST00000402647.2_Missense_Mutation_p.G61C|GRM7_ENST00000403881.1_Missense_Mutation_p.G61C|GRM7_ENST00000389336.4_Missense_Mutation_p.G61C|GRM7_ENST00000486284.1_Missense_Mutation_p.G61C	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	61					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GCACGCCAAGGGTCCCAGCGG	0.672																																						uc003bqm.2																			0				ovary(4)|lung(3)	7						c.(181-183)GGT>TGT		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						20.0	21.0	21.0					3																	6903256		2202	4299	6501	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:6903256G>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.181G>T	3.37:g.6903256G>T	ENSP00000350348:p.Gly61Cys					GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.G61C|GRM7_uc003bql.2_Missense_Mutation_p.G61C	p.G61C	NM_000844	NP_000835	Q14831	GRM7_HUMAN			1	455	+			61			Extracellular (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.181G>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496718	0.85069	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	T	0.80237	0.4586	M	0.77712	2.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	T	0.82273	-0.0539	10	0.66056	D	0.02	.	17.7009	0.88294	0.0:0.0:1.0:0.0	.	61;61;61	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	C	61	ENSP00000350348:G61C;ENSP00000417536:G61C;ENSP00000373987:G61C;ENSP00000385664:G61C;ENSP00000384585:G61C	ENSP00000350348:G61C	G	+	1	0	GRM7	6878256	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.843000	0.86859	2.503000	0.84419	0.557000	0.71058	GGT		0.672	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844	
LINC00969	440993	broad.mit.edu	37	3	195410687	195410687	+	lincRNA	SNP	T	T	A	rs6583274	byFrequency	TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884									long intergenic non-protein coding RNA 969																		CCCTTTGAGGTGCACTGGAGG	0.567													.|||	701	0.139976	0.0552	0.1571	5008	,	,		36746	0.1855		0.16	False		,,,				2504	0.1748					uc003fuw.2																			0					0						c.(583-585)GTG>GAG		SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1);																																						727956							g.chr3:195410687T>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410687T>A						SDHAP2_uc003fuv.2_RNA	p.V195E							13	1778	+									Missense_Mutation	SNP	ENST00000445430.1	37	c.584T>A																																																																																					0.567	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1		
CD38	952	broad.mit.edu	37	4	15835885	15835885	+	Missense_Mutation	SNP	A	A	G			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr4:15835885A>G	ENST00000226279.3	+	4	682	c.545A>G	c.(544-546)aAc>aGc	p.N182S		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	182					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GACTGCAGCAACAACCCTGTT	0.388																																						uc011bxc.1																			0				ovary(2)	2						c.(544-546)AAC>AGC		CD38 antigen							96.0	93.0	94.0					4																	15835885		2203	4300	6503	SO:0001583	missense	952				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity	g.chr4:15835885A>G	D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"""CD molecules"""	1667	protein-coding gene	gene with protein product	"""ADP-ribosyl cyclase 1"", ""NAD(+) nucleosidase"""	107270	"""CD38 antigen (p45)"""			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.545A>G	4.37:g.15835885A>G	ENSP00000226279:p.Asn182Ser					CD38_uc003gol.1_Missense_Mutation_p.N182S	p.N182S	NM_001775	NP_001766	P28907	CD38_HUMAN			4	652	+			182			Extracellular (Potential).		O00121|O00122|Q96HY4	Missense_Mutation	SNP	ENST00000226279.3	37	c.545A>G	CCDS3417.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.297|8.297	0.819016|0.819016	0.16607|0.16607	.|.	.|.	ENSG00000004468|ENSG00000004468	ENST00000226279;ENST00000510674|ENST00000540195	T;T|.	0.15487|.	2.42;2.42|.	5.31|5.31	-1.76|-1.76	0.08006|0.08006	.|.	0.627818|.	0.17906|.	N|.	0.158037|.	T|T	0.20210|0.20210	0.0486|0.0486	N|N	0.25144|0.25144	0.715|0.715	0.09310|0.09310	N|N	1|1	B|.	0.12630|.	0.006|.	B|.	0.09377|.	0.004|.	T|T	0.23655|0.23655	-1.0182|-1.0182	10|6	0.37606|0.41790	T|T	0.19|0.15	-14.0866|-14.0866	1.128|1.128	0.01739|0.01739	0.471:0.146:0.2424:0.1406|0.471:0.146:0.2424:0.1406	.|.	182|.	P28907|.	CD38_HUMAN|.	S|A	182;70|137	ENSP00000226279:N182S;ENSP00000423047:N70S|.	ENSP00000226279:N182S|ENSP00000442176:T137A	N|T	+|+	2|1	0|0	CD38|CD38	15444983|15444983	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.055000|-0.055000	0.11807|0.11807	-0.434000|-0.434000	0.07275|0.07275	-1.597000|-1.597000	0.00832|0.00832	AAC|ACA		0.388	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775	
GALNT7	51809	broad.mit.edu	37	4	174219326	174219326	+	Silent	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr4:174219326C>T	ENST00000265000.4	+	6	1109	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	GALNT7_ENST00000512285.1_3'UTR	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	342					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		AAATTATACCCCAAGGGGGTG	0.473																																						uc003isz.3																			0				central_nervous_system(1)	1						c.(1024-1026)CCC>CCT		polypeptide N-acetylgalactosaminyltransferase 7							92.0	90.0	91.0					4																	174219326		2203	4300	6503	SO:0001819	synonymous_variant	51809				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:174219326C>T	AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1026C>T	4.37:g.174219326C>T						GALNT7_uc011ckb.1_Intron	p.P342P	NM_017423	NP_059119	Q86SF2	GALT7_HUMAN		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	6	1109	+		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	342			Lumenal (Potential).		B3KQU3|Q7Z5W7|Q9UJ28	Silent	SNP	ENST00000265000.4	37	c.1026C>T	CCDS3815.1																																																																																				0.473	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423	
C9	735	broad.mit.edu	37	5	39316092	39316092	+	Missense_Mutation	SNP	C	C	G			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr5:39316092C>G	ENST00000263408.4	-	6	750	c.655G>C	c.(655-657)Gaa>Caa	p.E219Q	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	219	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TCAATTTGTTCTTCGTAATGT	0.303																																						uc003jlv.3																			0					0						c.(655-657)GAA>CAA		complement component 9 precursor							74.0	71.0	72.0					5																	39316092		2203	4299	6502	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39316092C>G		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.655G>C	5.37:g.39316092C>G	ENSP00000263408:p.Glu219Gln						p.E219Q	NM_001737	NP_001728	P02748	CO9_HUMAN	Epithelial(62;0.158)		6	744	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	219			MACPF.			Missense_Mutation	SNP	ENST00000263408.4	37	c.655G>C	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242578	0.39598	.	.	ENSG00000113600	ENST00000263408	T	0.31510	1.49	5.56	4.68	0.58851	Membrane attack complex component/perforin (MACPF) domain (1);	0.267750	0.41294	N	0.000908	T	0.30634	0.0771	L	0.51422	1.61	0.33203	D	0.552451	B	0.24721	0.11	B	0.19148	0.024	T	0.41502	-0.9505	10	0.54805	T	0.06	-23.7782	15.6817	0.77373	0.0:0.862:0.138:0.0	.	219	P02748	CO9_HUMAN	Q	219	ENSP00000263408:E219Q	ENSP00000263408:E219Q	E	-	1	0	C9	39351849	0.866000	0.29940	0.996000	0.52242	0.499000	0.33736	1.092000	0.30927	1.475000	0.48197	0.655000	0.94253	GAA		0.303	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3		
MROH2B	133558	broad.mit.edu	37	5	41061824	41061824	+	Missense_Mutation	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr5:41061824G>T	ENST00000399564.4	-	6	913	c.463C>A	c.(463-465)Ctt>Att	p.L155I		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	155																	AATTTCTCAAGGGCTGCATTT	0.398																																						uc003jmj.3																			0				ovary(6)|central_nervous_system(2)	8						c.(463-465)CTT>ATT		HEAT repeat family member 7B2							82.0	77.0	78.0					5																	41061824		1833	4092	5925	SO:0001583	missense	133558						binding	g.chr5:41061824G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.463C>A	5.37:g.41061824G>T	ENSP00000382476:p.Leu155Ile						p.L155I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			6	953	-			155					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.463C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333017	0.81801	.	.	ENSG00000171495	ENST00000399564	T	0.06449	3.3	5.81	5.81	0.92471	Armadillo-type fold (1);	0.000000	0.51477	D	0.000097	T	0.22126	0.0533	M	0.63843	1.955	0.34708	D	0.727412	D	0.71674	0.998	D	0.83275	0.996	T	0.03933	-1.0991	10	0.35671	T	0.21	.	15.5834	0.76462	0.0:0.0:1.0:0.0	.	155	Q7Z745	HTRB2_HUMAN	I	155	ENSP00000382476:L155I	ENSP00000382476:L155I	L	-	1	0	HEATR7B2	41097581	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.428000	0.59894	2.756000	0.94617	0.655000	0.94253	CTT		0.398	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
POLR3G	10622	broad.mit.edu	37	5	89802453	89802453	+	Missense_Mutation	SNP	G	G	A	rs375576885		TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr5:89802453G>A	ENST00000399107.1	+	7	747	c.547G>A	c.(547-549)Gca>Aca	p.A183T	POLR3G_ENST00000504930.1_Missense_Mutation_p.A183T	NM_006467.2	NP_006458.2	O15318	RPC7_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)	183	Glu-rich.				cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)			cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		cgatgatgccgcagaacagga	0.368																																						uc003kjq.2																			0					0						c.(547-549)GCA>ACA		polymerase (RNA) III (DNA directed) polypeptide		G	THR/ALA	1,4001		0,1,2000	110.0	115.0	114.0		547	4.3	0.9	5		114	0,8326		0,0,4163	no	missense	POLR3G	NM_006467.2	58	0,1,6163	AA,AG,GG		0.0,0.025,0.0081	probably-damaging	183/224	89802453	1,12327	2001	4163	6164	SO:0001583	missense	10622				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA-directed RNA polymerase activity	g.chr5:89802453G>A	U93868	CCDS43337.1	5q14.3	2014-06-05			ENSG00000113356	ENSG00000113356		"""RNA polymerase subunits"""	30075	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006467		Approved	RPC32, RPC7	uc003kjq.3	O15318	OTTHUMG00000162809	ENST00000399107.1:c.547G>A	5.37:g.89802453G>A	ENSP00000382058:p.Ala183Thr					POLR3G_uc011cuc.1_Missense_Mutation_p.A183T	p.A183T	NM_006467	NP_006458	O15318	RPC7_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)	7	747	+		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	183			Glu-rich.		A8MTH0	Missense_Mutation	SNP	ENST00000399107.1	37	c.547G>A	CCDS43337.1	.	.	.	.	.	.	.	.	.	.	G	7.348	0.622379	0.14193	2.5E-4	0.0	ENSG00000113356	ENST00000503373;ENST00000399107;ENST00000504930	.	.	.	4.28	4.28	0.50868	.	0.393727	0.27595	N	0.018670	T	0.53061	0.1773	L	0.44542	1.39	0.35464	D	0.796753	D	0.55385	0.971	P	0.50754	0.649	T	0.65348	-0.6190	9	0.54805	T	0.06	-3.3284	12.4258	0.55546	0.0:0.0:1.0:0.0	.	183	O15318	RPC7_HUMAN	T	183	.	ENSP00000382058:A183T	A	+	1	0	POLR3G	89838209	0.978000	0.34361	0.949000	0.38748	0.180000	0.23129	2.648000	0.46647	2.356000	0.79943	0.655000	0.94253	GCA		0.368	POLR3G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370462.1	NM_006467	
C5orf46	389336	broad.mit.edu	37	5	147286057	147286057	+	Missense_Mutation	SNP	A	A	C			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr5:147286057A>C	ENST00000318315.4	-	1	8	c.8T>G	c.(7-9)gTc>gGc	p.V3G	C5orf46_ENST00000510432.1_5'Flank|C5orf46_ENST00000515291.1_Missense_Mutation_p.V3G	NM_206966.2	NP_996849.2	Q6UWT4	CE046_HUMAN	chromosome 5 open reading frame 46	3						extracellular vesicular exosome (GO:0070062)				NS(1)|lung(1)|prostate(1)	3						AAGTACTGAGACAGCCATTCT	0.453																																						uc010jgp.2																			0					0						c.(7-9)GTC>GGC		hypothetical protein LOC389336 precursor							99.0	86.0	90.0					5																	147286057		2203	4300	6503	SO:0001583	missense	389336					extracellular region		g.chr5:147286057A>C		CCDS34267.1	5q33.1	2013-12-13			ENSG00000178776	ENSG00000178776			33768	protein-coding gene	gene with protein product	"""skin and saliva secreted protein 1"""						Standard	NM_206966		Approved	MGC23985, SSSP1	uc003lou.3	Q6UWT4	OTTHUMG00000163420	ENST00000318315.4:c.8T>G	5.37:g.147286057A>C	ENSP00000315370:p.Val3Gly					C5orf46_uc003lou.2_Missense_Mutation_p.V3G|C5orf46_uc003lov.3_Missense_Mutation_p.V3G	p.V3G	NM_206966	NP_996849	Q6UWT4	CE046_HUMAN			1	45	-			3					A8K038|Q8WU04	Missense_Mutation	SNP	ENST00000318315.4	37	c.8T>G	CCDS34267.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.044752	0.36085	.	.	ENSG00000178776	ENST00000318315;ENST00000515291	T;T	0.58797	0.31;0.31	4.88	-1.74	0.08056	.	0.710767	0.12194	N	0.490935	T	0.33847	0.0877	.	.	.	0.46458	D	0.999057	B	0.09022	0.002	B	0.09377	0.004	T	0.10965	-1.0607	8	.	.	.	-11.6471	4.3641	0.11216	0.3894:0.3346:0.2761:0.0	.	3	Q6UWT4	CE046_HUMAN	G	3	ENSP00000315370:V3G;ENSP00000425984:V3G	.	V	-	2	0	C5orf46	147266250	1.000000	0.71417	0.982000	0.44146	0.798000	0.45092	0.500000	0.22562	-0.129000	0.11620	0.533000	0.62120	GTC		0.453	C5orf46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373314.1	NM_206966	
SH3TC2	79628	broad.mit.edu	37	5	148427540	148427540	+	Missense_Mutation	SNP	G	G	C	rs201291203	byFrequency	TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr5:148427540G>C	ENST00000515425.1	-	3	265	c.164C>G	c.(163-165)tCc>tGc	p.S55C	SH3TC2_ENST00000512049.1_Missense_Mutation_p.S55C|SH3TC2_ENST00000394358.2_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	55					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACACAGAAGGAGAGTGTCAG	0.498																																						uc003lpu.2																			0				ovary(2)	2						c.(163-165)TCC>TGC		SH3 domain and tetratricopeptide repeats 2							99.0	106.0	104.0					5																	148427540		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148427540G>C	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.164C>G	5.37:g.148427540G>C	ENSP00000423660:p.Ser55Cys					SH3TC2_uc003lpp.1_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.S55C|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_5'UTR|SH3TC2_uc003lpw.1_Missense_Mutation_p.S55C	p.S55C	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	316	-			55					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.164C>G	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139560	0.56936	.	.	ENSG00000169247	ENST00000515425;ENST00000512049	T;T	0.77229	-1.07;-1.08	5.41	4.48	0.54585	.	0.096565	0.49916	D	0.000133	T	0.74854	0.3771	N	0.14661	0.345	0.80722	D	1	D;D;D	0.89917	0.983;1.0;0.983	B;D;B	0.76071	0.417;0.987;0.417	T	0.75202	-0.3401	10	0.56958	D	0.05	.	7.1687	0.25706	0.09:0.174:0.7359:0.0	.	55;55;55	Q14CC0;D6RFX2;Q8TF17	.;.;S3TC2_HUMAN	C	55	ENSP00000423660:S55C;ENSP00000421860:S55C	ENSP00000313025:S55C	S	-	2	0	SH3TC2	148407733	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	1.863000	0.39459	2.710000	0.92621	0.655000	0.94253	TCC		0.498	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577	
KIAA0319	9856	broad.mit.edu	37	6	24563628	24563628	+	Silent	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr6:24563628C>T	ENST00000378214.3	-	16	3074	c.2550G>A	c.(2548-2550)tcG>tcA	p.S850S	KIAA0319_ENST00000430948.2_Silent_p.S805S|KIAA0319_ENST00000543707.1_Silent_p.S850S|KIAA0319_ENST00000535378.1_Silent_p.S841S|KIAA0319_ENST00000537886.1_Silent_p.S850S	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	850					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCTTAATGTCCGAGTCCAGCA	0.587																																						uc011djo.1																			0				ovary(1)|skin(1)	2						c.(2548-2550)TCG>TCA		KIAA0319 precursor							75.0	61.0	66.0					6																	24563628		2203	4300	6503	SO:0001819	synonymous_variant	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24563628C>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2550G>A	6.37:g.24563628C>T						KIAA0319_uc011djp.1_Silent_p.S805S|KIAA0319_uc003neh.1_Silent_p.S850S|KIAA0319_uc011djq.1_Silent_p.S841S|KIAA0319_uc011djr.1_Silent_p.S850S|KIAA0319_uc010jpt.1_Silent_p.S261S	p.S850S	NM_014809	NP_055624	Q5VV43	K0319_HUMAN			16	2787	-			850			Extracellular (Potential).		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Silent	SNP	ENST00000378214.3	37	c.2550G>A	CCDS34348.1																																																																																				0.587	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809	
PHACTR2	9749	broad.mit.edu	37	6	144033221	144033221	+	Missense_Mutation	SNP	T	T	C			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr6:144033221T>C	ENST00000427704.2	+	2	212	c.82T>C	c.(82-84)Ttc>Ctc	p.F28L	PHACTR2_ENST00000367584.4_Missense_Mutation_p.F96L|PHACTR2_ENST00000305766.6_Missense_Mutation_p.F28L|PHACTR2_ENST00000440869.2_Missense_Mutation_p.F39L|PHACTR2_ENST00000397980.3_Missense_Mutation_p.F39L|PHACTR2_ENST00000367582.3_Missense_Mutation_p.F39L	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	28							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		AACACCTCCCTTCAAAAGAAA	0.433																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	uc003qjq.3																			0				ovary(2)	2						c.(82-84)TTC>CTC		phosphatase and actin regulator 2 isoform 3							112.0	112.0	112.0					6																	144033221		1828	4081	5909	SO:0001583	missense	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144033221T>C	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.82T>C	6.37:g.144033221T>C	ENSP00000391763:p.Phe28Leu					PHACTR2_uc010khh.2_Missense_Mutation_p.F28L|PHACTR2_uc010khi.2_Missense_Mutation_p.F39L|PHACTR2_uc003qjr.3_Missense_Mutation_p.F39L	p.F28L	NM_014721	NP_055536	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	2	212	+			28					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	ENST00000427704.2	37	c.82T>C	CCDS47492.1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.303852	0.40795	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582;ENST00000451827;ENST00000397980;ENST00000367583	T;T;T;T;T	0.27402	1.68;2.07;1.68;2.06;1.67	5.93	5.93	0.95920	.	0.266107	0.42053	D	0.000773	T	0.05502	0.0145	N	0.00368	-1.59	0.33137	D	0.543873	P;B;B;P	0.48503	0.911;0.347;0.347;0.473	P;B;B;B	0.53062	0.717;0.12;0.12;0.056	T	0.09952	-1.0651	10	0.11485	T	0.65	.	10.6852	0.45839	0.0:0.0709:0.0:0.9291	.	39;28;39;28	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	L	96;28;28;39;39;39;39;39	ENSP00000356556:F96L;ENSP00000391763:F28L;ENSP00000305530:F28L;ENSP00000417038:F39L;ENSP00000356554:F39L	ENSP00000305530:F28L	F	+	1	0	PHACTR2	144074914	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.843000	0.55865	2.270000	0.75569	0.482000	0.46254	TTC		0.433	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721	
SDK1	221935	broad.mit.edu	37	7	4213951	4213951	+	Missense_Mutation	SNP	C	C	T	rs140602039		TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:4213951C>T	ENST00000404826.2	+	33	5037	c.4898C>T	c.(4897-4899)aCg>aTg	p.T1633M	SDK1_ENST00000389531.3_Missense_Mutation_p.T1633M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1633	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GAGGCCAAGACGCTCAAAAAC	0.562																																						uc003smx.2																			0				large_intestine(3)|ovary(2)|skin(1)	6						c.(4897-4899)ACG>ATG		sidekick 1 precursor		T	MET/THR	1,4405	2.1+/-5.4	0,1,2202	199.0	189.0	193.0		4898	1.1	0.1	7	dbSNP_134	193	0,8600		0,0,4300	no	missense	SDK1	NM_152744.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	1633/2214	4213951	1,13005	2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4213951C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4898C>T	7.37:g.4213951C>T	ENSP00000385899:p.Thr1633Met					SDK1_uc010kso.2_Missense_Mutation_p.T909M|SDK1_uc003smy.2_Missense_Mutation_p.T120M	p.T1633M	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	33	5037	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1633			Fibronectin type-III 10.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.4898C>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	c	2.176	-0.388695	0.04932	2.27E-4	0.0	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.62788	-0.0;0.25	4.91	1.14	0.20703	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.245355	0.32548	N	0.005950	T	0.56863	0.2014	M	0.80183	2.485	0.22873	N	0.998625	B;B;B	0.32467	0.217;0.257;0.372	B;B;B	0.26969	0.063;0.067;0.075	T	0.50457	-0.8826	10	0.46703	T	0.11	.	8.2688	0.31831	0.0:0.6059:0.0:0.3941	.	1633;120;1633	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	M	1633	ENSP00000385899:T1633M;ENSP00000374182:T1633M	ENSP00000374182:T1633M	T	+	2	0	SDK1	4180477	0.018000	0.18449	0.056000	0.19401	0.026000	0.11368	0.090000	0.15025	-0.070000	0.12908	-1.402000	0.01139	ACG		0.562	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
CPVL	54504	broad.mit.edu	37	7	29160576	29160576	+	Silent	SNP	T	T	C			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:29160576T>C	ENST00000409850.1	-	6	748	c.102A>G	c.(100-102)ccA>ccG	p.P34P	CPVL_ENST00000265394.5_Silent_p.P34P|CPVL_ENST00000488891.2_5'UTR|CPVL_ENST00000396276.3_Silent_p.P34P			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	34						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						CTCCCTTAGGTGGCATGGAAA	0.468																																						uc003szv.2																			0				ovary(2)	2						c.(100-102)CCA>CCG		serine carboxypeptidase vitellogenic-like							109.0	100.0	103.0					7																	29160576		2203	4300	6503	SO:0001819	synonymous_variant	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29160576T>C	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.102A>G	7.37:g.29160576T>C						CPVL_uc003szw.2_Silent_p.P34P|CPVL_uc003szx.2_Silent_p.P34P	p.P34P	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN			2	221	-			34					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Silent	SNP	ENST00000409850.1	37	c.102A>G	CCDS5419.1																																																																																				0.468	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029	
AEBP1	165	broad.mit.edu	37	7	44148536	44148536	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:44148536G>A	ENST00000223357.3	+	7	1284	c.979G>A	c.(979-981)Gat>Aat	p.D327N	AEBP1_ENST00000450684.2_5'Flank|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	327					cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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 transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCAGAAGCCCGATGCTGAGCG	0.652																																						uc003tkb.2																			0					0						c.(979-981)GAT>AAT		adipocyte enhancer binding protein 1 precursor							48.0	44.0	45.0					7																	44148536		2194	4291	6485	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44148536G>A	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.979G>A	7.37:g.44148536G>A	ENSP00000223357:p.Asp327Asn					AEBP1_uc003tkc.3_5'Flank|AEBP1_uc003tkd.2_5'Flank	p.D327N	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN			7	1284	+			327					Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.979G>A	CCDS5476.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.85|10.85	1.465555|1.465555	0.26335|0.26335	.|.	.|.	ENSG00000106624|ENSG00000106624	ENST00000223357|ENST00000455443	D|.	0.95724|.	-3.79|.	4.53|4.53	1.6|1.6	0.23607|0.23607	.|.	3.890440|.	0.00738|.	N|.	0.000988|.	T|T	0.30854|0.30854	0.0778|0.0778	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	0.999991|0.999991	P|.	0.39782|.	0.688|.	B|.	0.22601|.	0.04|.	T|T	0.23726|0.23726	-1.0180|-1.0180	10|5	0.66056|.	D|.	0.02|.	-11.8308|-11.8308	8.8401|8.8401	0.35137|0.35137	0.0:0.3091:0.531:0.1599|0.0:0.3091:0.531:0.1599	.|.	327|.	Q8IUX7|.	AEBP1_HUMAN|.	N|Q	327|219	ENSP00000223357:D327N|.	ENSP00000223357:D327N|.	D|R	+|+	1|2	0|0	AEBP1|AEBP1	44115061|44115061	0.003000|0.003000	0.15002|0.15002	0.006000|0.006000	0.13384|0.13384	0.735000|0.735000	0.41995|0.41995	0.793000|0.793000	0.26944|0.26944	0.092000|0.092000	0.17331|0.17331	0.591000|0.591000	0.81541|0.81541	GAT|CGA		0.652	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129	
ZNF680	340252	broad.mit.edu	37	7	64004099	64004099	+	Missense_Mutation	SNP	A	A	G			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:64004099A>G	ENST00000309683.6	-	3	390	c.239T>C	c.(238-240)gTa>gCa	p.V80A	ZNF680_ENST00000476563.1_5'UTR|ZNF680_ENST00000447137.2_Missense_Mutation_p.V80A	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	80	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				GGGTTTGGCTACCATCTCCTG	0.428																																						uc003tta.2																			0				ovary(1)	1						c.(238-240)GTA>GCA		zinc finger protein 680 isoform 1							142.0	132.0	135.0					7																	64004099		2203	4300	6503	SO:0001583	missense	340252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64004099A>G	AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	26897	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.239T>C	7.37:g.64004099A>G	ENSP00000309330:p.Val80Ala					ZNF680_uc010kzr.2_Intron|ZNF680_uc003ttb.2_Missense_Mutation_p.V80A	p.V80A	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN			3	412	-		Lung NSC(55;0.118)|all_lung(88;0.243)	80			KRAB.		B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	37	c.239T>C	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	N	7.473	0.647068	0.14516	.	.	ENSG00000173041	ENST00000309683;ENST00000447137	T;T	0.04603	3.59;5.79	0.458	-0.735	0.11137	Krueppel-associated box (1);	.	.	.	.	T	0.03348	0.0097	L	0.28504	0.86	0.09310	N	1	B;B	0.32939	0.391;0.3	B;B	0.30401	0.115;0.039	T	0.42050	-0.9474	8	0.40728	T	0.16	.	.	.	.	.	80;80	Q6ZNF3;Q8NEM1	.;ZN680_HUMAN	A	80	ENSP00000309330:V80A;ENSP00000393506:V80A	ENSP00000309330:V80A	V	-	2	0	ZNF680	63641534	0.928000	0.31464	0.004000	0.12327	0.004000	0.04260	1.115000	0.31209	-0.417000	0.07461	-0.425000	0.05940	GTA		0.428	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1	NM_178558	
ZAN	7455	broad.mit.edu	37	7	100377161	100377161	+	RNA	SNP	G	G	A	rs531109918	byFrequency	TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:100377161G>A	ENST00000348028.3	+	0	6575				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCCGCAGGGCGCGGGAAAAGT	0.637													G|||	2	0.000399361	0.0	0.0	5008	,	,		13915	0.0		0.0	False		,,,				2504	0.002					uc003uwj.2																			0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(6409-6411)GCG>GCA		zonadhesin isoform 3							28.0	32.0	31.0					7																	100377161		1983	4142	6125			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100377161G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100377161G>A						ZAN_uc003uwk.2_Silent_p.A2137A|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Silent_p.A224A	p.A2137A	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		36	6576	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		2137			Extracellular (Potential).|VWFD 3.		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.6411G>A																																																																																					0.637	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
MUC17	140453	broad.mit.edu	37	7	100674926	100674926	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:100674926G>A	ENST00000306151.4	+	3	293	c.229G>A	c.(229-231)Gtg>Atg	p.V77M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	77					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACAAATGTCGTGGAGCCAAG	0.448																																						uc003uxp.1																			0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(229-231)GTG>ATG		mucin 17 precursor							104.0	97.0	99.0					7																	100674926		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100674926G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.229G>A	7.37:g.100674926G>A	ENSP00000302716:p.Val77Met					MUC17_uc010lho.1_RNA	p.V77M	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	282	+	Lung NSC(181;0.136)|all_lung(186;0.182)		77			Extracellular (Potential).		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.229G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-2.888800	0.00060	.	.	ENSG00000169876	ENST00000306151	T	0.02763	4.17	0.694	-1.39	0.08997	.	.	.	.	.	T	0.01092	0.0036	N	0.14661	0.345	0.09310	N	1	P	0.49961	0.93	B	0.26693	0.072	T	0.42849	-0.9427	8	0.34782	T	0.22	.	.	.	.	.	77	Q685J3	MUC17_HUMAN	M	77	ENSP00000302716:V77M	ENSP00000302716:V77M	V	+	1	0	MUC17	100461646	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.447000	0.00467	-4.233000	0.00063	-4.557000	0.00004	GTG		0.448	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
RELN	5649	broad.mit.edu	37	7	103124180	103124180	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:103124180G>A	ENST00000428762.1	-	62	10260	c.10101C>T	c.(10099-10101)aaC>aaT	p.N3367N	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Silent_p.N3367N|RELN_ENST00000343529.5_Silent_p.N3367N|RELN_ENST00000473945.1_5'UTR|RN7SKP86_ENST00000410454.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3367					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGGTGATCCCGTTGTTGACGC	0.552																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(10099-10101)AAC>AAT		reelin isoform a							241.0	201.0	215.0					7																	103124180		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103124180G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.10101C>T	7.37:g.103124180G>A						RELN_uc010liz.2_Silent_p.N3367N	p.N3367N	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	62	10261	-			3367			BNR 16.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.10101C>T	CCDS47680.1																																																																																				0.552	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
PUS7	54517	broad.mit.edu	37	7	105111170	105111170	+	Missense_Mutation	SNP	A	A	C			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:105111170A>C	ENST00000356362.2	-	11	1577	c.1363T>G	c.(1363-1365)Tat>Gat	p.Y455D	PUS7_ENST00000469408.1_Missense_Mutation_p.Y455D	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	455	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TTCATTCCATATTTTGAAAGT	0.423																																					Colon(138;2387 3051 17860)	uc003vcx.2																			0				breast(1)	1						c.(1363-1365)TAT>GAT		pseudouridylate synthase 7 homolog							158.0	152.0	154.0					7																	105111170		2203	4300	6503	SO:0001583	missense	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105111170A>C	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.1363T>G	7.37:g.105111170A>C	ENSP00000348722:p.Tyr455Asp					PUS7_uc010lji.2_Missense_Mutation_p.Y461D|PUS7_uc003vcy.2_Missense_Mutation_p.Y455D|PUS7_uc003vcz.1_Missense_Mutation_p.Y455D	p.Y455D	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN			11	1582	-			455			TRUD.		Q75MG4|Q9NX19	Missense_Mutation	SNP	ENST00000356362.2	37	c.1363T>G	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.784625	0.70222	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.44881	0.91;0.91	5.94	5.94	0.96194	Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase, TruD, insertion domain (1);	0.053046	0.85682	D	0.000000	T	0.48978	0.1530	L	0.49571	1.57	0.58432	D	0.999997	P;D	0.55172	0.889;0.97	P;P	0.51101	0.456;0.659	T	0.41342	-0.9514	10	0.37606	T	0.19	-35.4642	15.579	0.76418	1.0:0.0:0.0:0.0	.	455;455	B3KY42;Q96PZ0	.;PUS7_HUMAN	D	455	ENSP00000348722:Y455D;ENSP00000417402:Y455D	ENSP00000348722:Y455D	Y	-	1	0	PUS7	104898406	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	6.918000	0.75788	2.279000	0.76181	0.459000	0.35465	TAT		0.423	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042	
GIMAP7	168537	broad.mit.edu	37	7	150217096	150217096	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:150217096G>A	ENST00000313543.4	+	2	191	c.34G>A	c.(34-36)Gtt>Att	p.V12I		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	12	AIG1-type G.				GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGAGGATCGTTCTGGTAGG	0.498																																						uc003whk.2																			0				pancreas(1)|skin(1)	2						c.(34-36)GTT>ATT		GTPase, IMAP family member 7							67.0	60.0	62.0					7																	150217096		2203	4300	6503	SO:0001583	missense	168537						GTP binding	g.chr7:150217096G>A	BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"""GTPases, IMAP"""	22404	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 7"""					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.34G>A	7.37:g.150217096G>A	ENSP00000315474:p.Val12Ile						p.V12I	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	164	+			12						Missense_Mutation	SNP	ENST00000313543.4	37	c.34G>A	CCDS5903.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362825	0.61403	.	.	ENSG00000179144	ENST00000313543	T	0.07114	3.22	4.77	3.87	0.44632	AIG1 (1);	0.153382	0.42964	N	0.000640	T	0.07413	0.0187	L	0.52364	1.645	0.34246	D	0.678221	P	0.52692	0.955	B	0.38327	0.271	T	0.33701	-0.9858	10	0.34782	T	0.22	.	8.2356	0.31625	0.1099:0.0:0.8901:0.0	.	12	Q8NHV1	GIMA7_HUMAN	I	12	ENSP00000315474:V12I	ENSP00000315474:V12I	V	+	1	0	GIMAP7	149848029	0.935000	0.31712	0.991000	0.47740	0.888000	0.51559	1.536000	0.36072	1.368000	0.46115	0.655000	0.94253	GTT		0.498	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349277.1	NM_153236	
INTS9	55756	broad.mit.edu	37	8	28627526	28627526	+	Silent	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr8:28627526G>T	ENST00000521022.1	-	16	1761	c.1680C>A	c.(1678-1680)gcC>gcA	p.A560A	INTS9_ENST00000397363.4_Silent_p.A454A|INTS9_ENST00000416984.2_Silent_p.A539A|INTS9_ENST00000521777.1_Silent_p.A536A	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	560					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		TCGTGGGCTGGGCGGGCCGAG	0.602											OREG0018682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xha.2																			0				central_nervous_system(1)|pancreas(1)	2						c.(1678-1680)GCC>GCA		integrator complex subunit 9 isoform 1							69.0	60.0	63.0					8																	28627526		2203	4300	6503	SO:0001819	synonymous_variant	55756				snRNA processing	integrator complex	protein binding	g.chr8:28627526G>T	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.1680C>A	8.37:g.28627526G>T			OREG0018682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	803	INTS9_uc011lav.1_Silent_p.A536A|INTS9_uc011law.1_Silent_p.A539A|INTS9_uc011lax.1_Silent_p.A453A|INTS9_uc010lvc.2_RNA	p.A560A	NM_018250	NP_060720	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	16	1979	-		Ovarian(32;0.0439)	560					B7Z560|B7Z6M5|O00224|Q8TB16	Silent	SNP	ENST00000521022.1	37	c.1680C>A	CCDS34873.1	.	.	.	.	.	.	.	.	.	.	G	0.102	-1.150619	0.01700	.	.	ENSG00000104299	ENST00000517383	.	.	.	5.69	1.7	0.24286	.	.	.	.	.	T	0.58793	0.2147	.	.	.	0.54753	D	0.999986	.	.	.	.	.	.	T	0.51100	-0.8748	4	.	.	.	-0.1729	10.2536	0.43383	0.0:0.2381:0.3232:0.4386	.	.	.	.	H	34	.	.	P	-	2	0	INTS9	28683445	0.008000	0.16893	0.318000	0.25279	0.042000	0.13812	-0.133000	0.10451	0.019000	0.15079	-0.175000	0.13238	CCC		0.602	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250	
PRKDC	5591	broad.mit.edu	37	8	48772255	48772255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr8:48772255G>A	ENST00000314191.2	-	47	6177	c.6121C>T	c.(6121-6123)Caa>Taa	p.Q2041*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.Q2041*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2042					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AAATCAAATTGACTCATTTCC	0.423								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2																			0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(6124-6126)CAA>TAA	NHEJ	protein kinase, DNA-activated, catalytic							93.0	91.0	91.0					8																	48772255		1869	4117	5986	SO:0001587	stop_gained	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48772255G>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6121C>T	8.37:g.48772255G>A	ENSP00000313420:p.Gln2041*					PRKDC_uc003xqj.2_Nonsense_Mutation_p.Q2042*|PRKDC_uc011ldh.1_Intron	p.Q2042*	NM_006904	NP_008835	P78527	PRKDC_HUMAN			47	6181	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2042					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP	ENST00000314191.2	37	c.6124C>T		.	.	.	.	.	.	.	.	.	.	G	47	13.778442	0.99762	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.2546	0.93941	0.0:0.0:1.0:0.0	.	.	.	.	X	2041	.	ENSP00000313420:Q2041X	Q	-	1	0	PRKDC	48934808	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.414000	0.97362	2.786000	0.95864	0.561000	0.74099	CAA		0.423	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	
RP1	6101	broad.mit.edu	37	8	55540932	55540932	+	Missense_Mutation	SNP	A	A	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr8:55540932A>T	ENST00000220676.1	+	4	4638	c.4490A>T	c.(4489-4491)gAg>gTg	p.E1497V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1497					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATCCAAGAAGAGGTAGAGGCT	0.313																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			0		p.E1497E(1)		skin(7)|ovary(4)|pancreas(1)	12						c.(4489-4491)GAG>GTG		retinitis pigmentosa RP1 protein							43.0	49.0	47.0					8																	55540932		2199	4295	6494	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55540932A>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4490A>T	8.37:g.55540932A>T	ENSP00000220676:p.Glu1497Val					RP1_uc011ldy.1_Intron	p.E1497V	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4638	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1497						Missense_Mutation	SNP	ENST00000220676.1	37	c.4490A>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	3.567	-0.088420	0.07097	.	.	ENSG00000104237	ENST00000220676	T	0.64803	-0.12	5.48	2.94	0.34122	.	1.161200	0.06303	N	0.701237	T	0.52757	0.1754	L	0.60455	1.87	0.09310	N	1	P	0.40144	0.704	B	0.31946	0.138	T	0.52185	-0.8609	10	0.87932	D	0	.	3.3528	0.07158	0.6085:0.1939:0.0773:0.1203	.	1497	P56715	RP1_HUMAN	V	1497	ENSP00000220676:E1497V	ENSP00000220676:E1497V	E	+	2	0	RP1	55703485	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	0.707000	0.25704	0.902000	0.36520	0.533000	0.62120	GAG		0.313	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
TRPA1	8989	broad.mit.edu	37	8	72973980	72973980	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr8:72973980G>A	ENST00000262209.4	-	7	1031	c.824C>T	c.(823-825)gCc>gTc	p.A275V		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	275					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AAAATGAATGGCTGTGCACCT	0.393																																						uc003xza.2																			0				ovary(4)|lung(1)|kidney(1)	6						c.(823-825)GCC>GTC		ankyrin-like protein 1	Menthol(DB00825)						147.0	120.0	130.0					8																	72973980		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72973980G>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.824C>T	8.37:g.72973980G>A	ENSP00000262209:p.Ala275Val						p.A275V	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		7	999	-			275			Cytoplasmic (Potential).|ANK 7.		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.824C>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752467	0.69533	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.70399	-0.48;-0.48	4.94	4.07	0.47477	Ankyrin repeat-containing domain (4);	0.282680	0.39210	N	0.001429	D	0.83294	0.5223	M	0.87900	2.915	0.48632	D	0.999689	D	0.61697	0.99	P	0.62740	0.906	D	0.84225	0.0463	10	0.37606	T	0.19	-4.3953	13.3992	0.60872	0.0755:0.0:0.9245:0.0	.	275	O75762	TRPA1_HUMAN	V	127;275	ENSP00000428151:A127V;ENSP00000262209:A275V	ENSP00000262209:A275V	A	-	2	0	TRPA1	73136534	1.000000	0.71417	1.000000	0.80357	0.403000	0.30841	8.663000	0.91134	1.317000	0.45149	-0.140000	0.14226	GCC		0.393	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	
MAPK15	225689	broad.mit.edu	37	8	144801307	144801307	+	Missense_Mutation	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr8:144801307G>T	ENST00000338033.4	+	6	681	c.562G>T	c.(562-564)Gtg>Ttg	p.V188L	RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395108.2_Missense_Mutation_p.V188L|MAPK15_ENST00000395107.4_Missense_Mutation_p.V205L	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	188	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGCACCGGAGGTGCTGCTCTC	0.687																																						uc003yzj.2																			0				lung(2)	2						c.(562-564)GTG>TTG		mitogen-activated protein kinase 15							36.0	38.0	37.0					8																	144801307		2177	4255	6432	SO:0001583	missense	225689				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	g.chr8:144801307G>T	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"""Mitogen-activated protein kinase cascade / Kinases"""	24667	protein-coding gene	gene with protein product	"""extracellular signal regulated kinase 8"""					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.562G>T	8.37:g.144801307G>T	ENSP00000337691:p.Val188Leu						p.V188L	NM_139021	NP_620590	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		6	603	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		188			Protein kinase.		Q2TCF9|Q8N362	Missense_Mutation	SNP	ENST00000338033.4	37	c.562G>T	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	g	8.397	0.840978	0.16891	.	.	ENSG00000181085	ENST00000338033;ENST00000395107;ENST00000395108	T;T;T	0.68479	-0.33;-0.33;-0.33	4.06	3.08	0.35506	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.070982	0.53938	D	0.000045	T	0.41880	0.1178	N	0.05199	-0.095	0.31771	N	0.632163	B	0.24317	0.101	B	0.32533	0.147	T	0.42361	-0.9456	10	0.42905	T	0.14	-0.0857	4.0945	0.09985	0.3228:0.0:0.6772:0.0	.	188	Q8TD08	MK15_HUMAN	L	188;205;188	ENSP00000337691:V188L;ENSP00000378539:V205L;ENSP00000378540:V188L	ENSP00000337691:V188L	V	+	1	0	MAPK15	144873295	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	2.672000	0.46850	2.069000	0.61940	0.431000	0.28591	GTG		0.687	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021	
NCBP1	4686	broad.mit.edu	37	9	100433448	100433448	+	Silent	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr9:100433448C>T	ENST00000375147.3	+	23	2596	c.2340C>T	c.(2338-2340)gcC>gcT	p.A780A		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	780					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)	p.A780A(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				ATATCTTGGCCGTGTTCCAGC	0.423																																					Ovarian(36;879 898 2893 44212 50307)	uc004axq.2																			1	Substitution - coding silent(1)		central_nervous_system(1)	central_nervous_system(1)	1						c.(2338-2340)GCC>GCT		nuclear cap binding protein subunit 1, 80kDa							152.0	134.0	140.0					9																	100433448		2203	4300	6503	SO:0001819	synonymous_variant	4686				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	g.chr9:100433448C>T	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.2340C>T	9.37:g.100433448C>T							p.A780A	NM_002486	NP_002477	Q09161	NCBP1_HUMAN			23	2799	+		Acute lymphoblastic leukemia(62;0.158)	780					B2R718|Q59G76|Q5T1V0|Q5T7X2	Silent	SNP	ENST00000375147.3	37	c.2340C>T	CCDS6728.1																																																																																				0.423	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486	
DMD	1756	broad.mit.edu	37	X	32429932	32429932	+	Missense_Mutation	SNP	G	G	C			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chrX:32429932G>C	ENST00000357033.4	-	30	4376	c.4170C>G	c.(4168-4170)gaC>gaG	p.D1390E	DMD_ENST00000378677.2_Missense_Mutation_p.D1386E	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1390					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCAACTGCTTGTCAATGAATG	0.473																																						uc004dda.1																			0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(4168-4170)GAC>GAG		dystrophin Dp427m isoform							125.0	94.0	104.0					X																	32429932		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32429932G>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4170C>G	X.37:g.32429932G>C	ENSP00000354923:p.Asp1390Glu					DMD_uc004dcw.2_Missense_Mutation_p.D46E|DMD_uc004dcx.2_Missense_Mutation_p.D49E|DMD_uc004dcz.2_Missense_Mutation_p.D1267E|DMD_uc004dcy.1_Missense_Mutation_p.D1386E|DMD_uc004ddb.1_Missense_Mutation_p.D1382E|DMD_uc010ngo.1_Intron	p.D1390E	NM_004006	NP_003997	P11532	DMD_HUMAN			30	4414	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1390					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.4170C>G	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419724	0.62622	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.25250	1.81;1.81	5.68	4.63	0.57726	.	0.000000	0.36740	U	0.002431	T	0.43942	0.1270	M	0.67953	2.075	0.80722	D	1	D;D;D;D;D	0.89917	0.99;1.0;0.984;0.984;0.984	D;D;D;D;D	0.87578	0.986;0.998;0.967;0.967;0.967	T	0.24977	-1.0145	10	0.12766	T	0.61	.	12.143	0.54008	0.1494:0.0:0.8506:0.0	.	1382;1390;1386;49;46	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	E	1382;49;46;1386;1390;1390;1267	ENSP00000367948:D1386E;ENSP00000354923:D1390E	ENSP00000354923:D1390E	D	-	3	2	DMD	32339853	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.349000	0.52217	2.381000	0.81170	0.506000	0.49869	GAC		0.473	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
USP11	8237	broad.mit.edu	37	X	47104414	47104414	+	Splice_Site	SNP	G	G	C			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chrX:47104414G>C	ENST00000218348.3	+	16	2215		c.e16-1		USP11_ENST00000377107.2_Splice_Site	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11						protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.?(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTCACCCCCAGCCCAGCCGTA	0.567																																						uc004dhp.2																			1	Unknown(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.e16-1		ubiquitin specific peptidase 11							60.0	53.0	55.0					X																	47104414		2203	4300	6503	SO:0001630	splice_region_variant	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47104414G>C	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.2216-1G>C	X.37:g.47104414G>C						USP11_uc004dhq.2_Splice_Site_p.A465_splice	p.A739_splice	NM_004651	NP_004642	P51784	UBP11_HUMAN			16	2216	+								B2RTX1|Q8IUG6|Q9BWE1	Splice_Site	SNP	ENST00000218348.3	37	c.2216_splice	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	.	13.65	2.301102	0.40694	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6902	0.69080	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP11	46989358	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	8.210000	0.89753	2.166000	0.68216	0.513000	0.50165	.		0.567	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651	Intron
PCDH11X	27328	broad.mit.edu	37	X	91133526	91133526	+	Missense_Mutation	SNP	T	T	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chrX:91133526T>A	ENST00000373094.1	+	2	3132	c.2287T>A	c.(2287-2289)Ttc>Atc	p.F763I	PCDH11X_ENST00000298274.8_Missense_Mutation_p.F763I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.F763I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.F763I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.F763I|PCDH11X_ENST00000504220.2_Missense_Mutation_p.F763I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.F763I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.F763I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.F763I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	763	Cadherin 7. {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)			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						TGATTCTCTCTTCAGTGTTGT	0.433																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			0				large_intestine(2)	2						c.(2287-2289)TTC>ATC		protocadherin 11 X-linked isoform c							132.0	115.0	121.0					X																	91133526		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133526T>A	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.2287T>A	X.37:g.91133526T>A	ENSP00000362186:p.Phe763Ile					PCDH11X_uc004efl.1_Missense_Mutation_p.F763I|PCDH11X_uc004efo.1_Missense_Mutation_p.F763I|PCDH11X_uc010nmv.1_Missense_Mutation_p.F763I|PCDH11X_uc004efm.1_Missense_Mutation_p.F763I|PCDH11X_uc004efn.1_Missense_Mutation_p.F763I|PCDH11X_uc004efh.1_Missense_Mutation_p.F763I|PCDH11X_uc004efj.1_Missense_Mutation_p.F763I	p.F763I	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3132	+			763			Cadherin 7.|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.2287T>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.040752	0.35989	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	4.76	3.43	0.39272	Cadherin (4);Cadherin-like (1);	0.270585	0.37623	N	0.002013	T	0.34164	0.0888	N	0.10837	0.055	0.27274	N	0.958291	P;P;P;P;P;P;P;P	0.51240	0.696;0.788;0.93;0.93;0.93;0.943;0.696;0.696	B;P;P;P;P;P;B;B	0.52424	0.433;0.452;0.572;0.572;0.572;0.698;0.433;0.433	T	0.07770	-1.0755	10	0.46703	T	0.11	.	5.3244	0.15898	0.1735:0.097:0.0:0.7294	.	763;763;763;763;763;763;763;763	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	I	763	ENSP00000378746:F763I;ENSP00000362186:F763I;ENSP00000362189:F763I;ENSP00000355040:F763I;ENSP00000362180:F763I;ENSP00000423762:F763I;ENSP00000355105:F763I;ENSP00000384758:F763I;ENSP00000298274:F763I	ENSP00000298274:F763I	F	+	1	0	PCDH11X	91020182	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	3.163000	0.50763	1.555000	0.49500	0.437000	0.28790	TTC		0.433	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
GABRE	2564	broad.mit.edu	37	X	151124002	151124002	+	Silent	SNP	G	G	T	rs483352728		TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chrX:151124002G>T	ENST00000370328.3	-	8	1028	c.975C>A	c.(973-975)acC>acA	p.T325T	GABRE_ENST00000483564.1_5'UTR|AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000370325.1_Silent_p.T325T	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	325					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TACGAGAAAAGGTGCCCAACG	0.493																																						uc004ffi.2																			0				ovary(2)	2						c.(973-975)ACC>ACA		gamma-aminobutyric acid (GABA) A receptor,							118.0	101.0	107.0					X																	151124002		2203	4300	6503	SO:0001819	synonymous_variant	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151124002G>T	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.975C>A	X.37:g.151124002G>T						GABRE_uc011myd.1_RNA	p.T325T	NM_004961	NP_004952	P78334	GBRE_HUMAN			8	1029	-	Acute lymphoblastic leukemia(192;6.56e-05)		325					E7ET93|O15345|O15346|Q6PCD2|Q99520	Silent	SNP	ENST00000370328.3	37	c.975C>A	CCDS14703.1																																																																																				0.493	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984	
