#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	31897702	31897702	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:31897702G>A	ENST00000373709.3	+	3	524	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536859.1_Missense_Mutation_p.R129Q|SERINC2_ENST00000536384.1_Missense_Mutation_p.R129Q|SERINC2_ENST00000373710.1_Missense_Mutation_p.R134Q	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	125					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)		CGGGACCCCCGGGCTGCCATC	0.647																																						uc010ogh.1																			0					0						c.(385-387)CGG>CAG		tumor differentially expressed 2-like							9.0	12.0	11.0					1																	31897702		2151	4236	6387	SO:0001583	missense	347735					integral to membrane		g.chr1:31897702G>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.374G>A	1.37:g.31897702G>A	ENSP00000362813:p.Arg125Gln					SERINC2_uc010ogg.1_Missense_Mutation_p.R126Q|SERINC2_uc009vtw.1_Missense_Mutation_p.R125Q|SERINC2_uc001bst.2_Missense_Mutation_p.R125Q|SERINC2_uc001bsu.2_Missense_Mutation_p.R70Q|SERINC2_uc001bsv.2_Missense_Mutation_p.R70Q	p.R129Q	NM_178865	NP_849196	Q96SA4	SERC2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)	3	587	+		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)	125					A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Missense_Mutation	SNP	ENST00000373709.3	37	c.386G>A	CCDS30662.1	.	.	.	.	.	.	.	.	.	.	G	35	5.439530	0.96168	.	.	ENSG00000168528	ENST00000373710;ENST00000536859;ENST00000373709;ENST00000536384	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	M	0.93898	3.47	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.991	T	0.71882	-0.4458	10	0.87932	D	0	-32.528	16.3974	0.83613	0.0:0.0:1.0:0.0	.	129;134;129;125	B4DJK5;E7EUZ9;B7Z567;Q96SA4	.;.;.;SERC2_HUMAN	Q	134;129;125;129	ENSP00000362814:R134Q;ENSP00000444307:R129Q;ENSP00000362813:R125Q;ENSP00000439048:R129Q	ENSP00000362813:R125Q	R	+	2	0	SERINC2	31670289	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	9.582000	0.98214	2.204000	0.70986	0.609000	0.83330	CGG		0.647	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	NM_018565	
WLS	79971	broad.mit.edu	37	1	68610274	68610274	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:68610274A>G	ENST00000262348.4	-	10	1593	c.1340T>C	c.(1339-1341)gTc>gCc	p.V447A	WLS_ENST00000370976.3_Missense_Mutation_p.V356A|GNG12-AS1_ENST00000434072.1_RNA|WLS_ENST00000491811.1_5'UTR|WLS_ENST00000540432.1_Missense_Mutation_p.V447A|GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000354777.2_Missense_Mutation_p.V445A	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	447					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						GAAGAAGATGACAGTCATGGC	0.443																																						uc001def.1																			0					0						c.(1339-1341)GTC>GCC		G protein-coupled receptor 177 isoform 1							126.0	129.0	128.0					1																	68610274		2203	4300	6503	SO:0001583	missense	79971				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	g.chr1:68610274A>G	BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.1340T>C	1.37:g.68610274A>G	ENSP00000262348:p.Val447Ala					uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Missense_Mutation_p.V445A|WLS_uc001deg.1_Missense_Mutation_p.V356A|WLS_uc009wbf.1_Missense_Mutation_p.V402A	p.V447A	NM_024911	NP_079187	Q5T9L3	WLS_HUMAN			10	1611	-			447			Helical; Name=6; (Potential).		B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP	ENST00000262348.4	37	c.1340T>C	CCDS642.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.956448	0.73902	.	.	ENSG00000116729	ENST00000540432;ENST00000354777;ENST00000262348;ENST00000370976	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.59	5.59	0.84812	.	0.052923	0.85682	D	0.000000	T	0.37732	0.1014	M	0.69358	2.11	0.80722	D	1	P;P;B;P	0.41546	0.754;0.58;0.322;0.754	B;B;B;B	0.39339	0.297;0.185;0.185;0.297	T	0.43523	-0.9386	10	0.52906	T	0.07	-10.0323	15.7591	0.78063	1.0:0.0:0.0:0.0	.	447;356;447;445	F5H4K0;Q5JRS7;Q5T9L3;Q5T9L3-2	.;.;WLS_HUMAN;.	A	447;445;447;356	ENSP00000446112:V447A;ENSP00000346829:V445A;ENSP00000262348:V447A;ENSP00000360015:V356A	ENSP00000262348:V447A	V	-	2	0	WLS	68382862	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.915000	0.92740	2.123000	0.65237	0.528000	0.53228	GTC		0.443	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	NM_024911	
SLC35A3	23443	broad.mit.edu	37	1	100464899	100464899	+	Silent	SNP	A	A	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:100464899A>C	ENST00000370155.3	+	3	662	c.270A>C	c.(268-270)ccA>ccC	p.P90P	SLC35A3_ENST00000427993.2_Silent_p.P90P|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000370153.1_Silent_p.P132P|RNU6-1318P_ENST00000365389.1_RNA|SLC35A3_ENST00000465289.1_Silent_p.P90P	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	90					transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		TTGCTATTCCATCAGGGATCT	0.308																																					Ovarian(7;298 356 944 2149 6911)	uc001dsp.1																			0					0						c.(268-270)CCA>CCC		solute carrier family 35 member 3A							70.0	73.0	72.0					1																	100464899		2202	4280	6482	SO:0001819	synonymous_variant	23443				UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity	g.chr1:100464899A>C	AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"""Solute carriers"""	11023	protein-coding gene	gene with protein product		605632	"""solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"""			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.270A>C	1.37:g.100464899A>C						SLC35A3_uc001dsq.1_Silent_p.P90P|SLC35A3_uc009wdy.1_Silent_p.P90P|SLC35A3_uc001dsr.1_Silent_p.P132P|SLC35A3_uc001dss.1_Silent_p.P9P	p.P90P	NM_012243	NP_036375	Q9Y2D2	S35A3_HUMAN		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)	3	467	+		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	90					A8K3F8|D3DT54|Q68CR2|Q9BSB7	Silent	SNP	ENST00000370155.3	37	c.270A>C	CCDS762.1																																																																																				0.308	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000029783.1	NM_012243	
THEM5	284486	broad.mit.edu	37	1	151820732	151820732	+	Silent	SNP	G	G	A	rs372391484		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:151820732G>A	ENST00000368817.5	-	4	632	c.501C>T	c.(499-501)gaC>gaT	p.D167D	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5	167					cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAAAGGTCTCGTCCATCATGG	0.587																																						uc009wnd.2																			0				ovary(1)|skin(1)	2						c.(499-501)GAC>GAT		thioesterase superfamily member 5		G		0,4406		0,0,2203	68.0	68.0	68.0		501	-5.0	0.8	1		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	THEM5	NM_182578.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		167/248	151820732	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	284486						hydrolase activity	g.chr1:151820732G>A	AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070	ENST00000368817.5:c.501C>T	1.37:g.151820732G>A							p.D167D	NM_182578	NP_872384	Q8N1Q8	THEM5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		4	633	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		167					Q5T1C3	Silent	SNP	ENST00000368817.5	37	c.501C>T	CCDS1005.1	.	.	.	.	.	.	.	.	.	.	G	8.625	0.892271	0.17613	0.0	1.16E-4	ENSG00000196407	ENST00000453881	.	.	.	5.42	-4.98	0.03019	.	.	.	.	.	T	0.40222	0.1108	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52830	-0.8523	4	.	.	.	-22.1731	12.2909	0.54817	0.5155:0.0:0.4845:0.0	.	.	.	.	M	114	.	.	T	-	2	0	THEM5	150087356	0.045000	0.20229	0.839000	0.33178	0.925000	0.55904	-1.741000	0.01837	-1.343000	0.02219	-1.578000	0.00866	ACG		0.587	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036678.2	NM_182578	
CD1E	913	broad.mit.edu	37	1	158325309	158325309	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:158325309G>A	ENST00000368167.3	+	3	814	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	CD1E_ENST00000368161.3_Missense_Mutation_p.R192Q|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.R192Q|CD1E_ENST00000434258.1_Missense_Mutation_p.R190Q|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000444681.2_Missense_Mutation_p.R93Q|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.R192Q|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368166.3_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	192	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					ACCTGCCCTCGATTTCTAGCG	0.507																																						uc001fse.2																			0				skin(3)	3						c.(574-576)CGA>CAA		CD1E antigen isoform a precursor							46.0	48.0	47.0					1																	158325309		1913	4126	6039	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325309G>A	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.575G>A	1.37:g.158325309G>A	ENSP00000357149:p.Arg192Gln					CD1E_uc010pid.1_Missense_Mutation_p.R190Q|CD1E_uc010pie.1_Missense_Mutation_p.R93Q|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Missense_Mutation_p.R192Q|CD1E_uc001fsk.2_Intron|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.R192Q|CD1E_uc001fry.2_Missense_Mutation_p.R192Q|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Missense_Mutation_p.R192Q|CD1E_uc009wsv.2_Missense_Mutation_p.R93Q|CD1E_uc001frz.2_Intron|CD1E_uc009wsw.2_5'Flank	p.R192Q	NM_030893	NP_112155	P15812	CD1E_HUMAN			3	814	+	all_hematologic(112;0.0378)		192			Ig-like.		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.575G>A	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.534209	0.45073	.	.	ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000368163;ENST00000368160;ENST00000368161	T;T;T;T;T;T	0.05996	3.36;3.36;3.36;3.36;3.36;3.36	4.37	0.16	0.14972	Immunoglobulin-like (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.502820	0.04509	N	0.382655	T	0.01156	0.0038	N	0.20328	0.56	0.09310	N	1	P;P;B;P;B;P;B	0.45078	0.457;0.484;0.127;0.85;0.125;0.769;0.415	B;B;B;B;B;B;B	0.34779	0.008;0.015;0.009;0.189;0.015;0.091;0.047	T	0.45026	-0.9289	10	0.30078	T	0.28	-0.6373	6.3239	0.21232	0.4791:0.0:0.5209:0.0	.	93;190;93;192;192;192;192	B4E042;E7ET31;E7EP01;P15812-2;P15812;P15812-3;P15812-4	.;.;.;.;CD1E_HUMAN;.;.	Q	190;93;192;192;192;192	ENSP00000401957:R190Q;ENSP00000402906:R93Q;ENSP00000357149:R192Q;ENSP00000357145:R192Q;ENSP00000357142:R192Q;ENSP00000357143:R192Q	ENSP00000357142:R192Q	R	+	2	0	CD1E	156591933	0.000000	0.05858	0.001000	0.08648	0.285000	0.27093	-0.071000	0.11505	0.170000	0.19704	0.563000	0.77884	CGA		0.507	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893	
SPTA1	6708	broad.mit.edu	37	1	158621161	158621161	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:158621161C>T	ENST00000368147.4	-	24	3653	c.3473G>A	c.(3472-3474)cGg>cAg	p.R1158Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1158					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGTTACCTGCCGGATTTGAGC	0.463																																						uc001fst.1																			0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(3472-3474)CGG>CAG		spectrin, alpha, erythrocytic 1							188.0	187.0	187.0					1																	158621161		1879	4109	5988	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158621161C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3473G>A	1.37:g.158621161C>T	ENSP00000357129:p.Arg1158Gln						p.R1158Q	NM_003126	NP_003117	P02549	SPTA1_HUMAN			24	3672	-	all_hematologic(112;0.0378)		1158			Spectrin 11.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3473G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	0.107	-1.143979	0.01728	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.48522	0.81;0.81	4.66	-0.524	0.11920	.	.	.	.	.	T	0.04543	0.0124	N	0.02142	-0.665	0.25423	N	0.988252	B	0.13594	0.008	B	0.14578	0.011	T	0.45205	-0.9277	9	0.02654	T	1	.	8.0717	0.30693	0.0:0.3973:0.0:0.6027	.	1158	P02549	SPTA1_HUMAN	Q	1158	ENSP00000357130:R1158Q;ENSP00000357129:R1158Q	ENSP00000357129:R1158Q	R	-	2	0	SPTA1	156887785	0.393000	0.25237	0.035000	0.18076	0.403000	0.30841	0.966000	0.29331	0.018000	0.15052	-0.136000	0.14681	CGG		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
SLAMF6	114836	broad.mit.edu	37	1	160461161	160461161	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:160461161G>T	ENST00000368057.3	-	3	460	c.400C>A	c.(400-402)Caa>Aaa	p.Q134K	SLAMF6_ENST00000368059.3_Missense_Mutation_p.Q134K|SLAMF6_ENST00000368055.1_Missense_Mutation_p.Q23K			Q96DU3	SLAF6_HUMAN	SLAM family member 6	134	Ig-like C2-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TTGGTAACTTGTATGTTCCTC	0.418																																						uc001fwe.1																			0				ovary(1)|skin(1)	2						c.(400-402)CAA>AAA		activating NK receptor precursor							95.0	92.0	93.0					1																	160461161		2203	4300	6503	SO:0001583	missense	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160461161G>T	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.400C>A	1.37:g.160461161G>T	ENSP00000357036:p.Gln134Lys					SLAMF6_uc001fwd.1_Missense_Mutation_p.Q134K|SLAMF6_uc010pjh.1_Missense_Mutation_p.Q85K|SLAMF6_uc010pji.1_Missense_Mutation_p.Q23K|SLAMF6_uc010pjj.1_Missense_Mutation_p.Q23K|SLAMF6_uc009wtm.1_Missense_Mutation_p.Q85K	p.Q134K	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		3	460	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		134			Extracellular (Potential).|Ig-like.		A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	c.400C>A	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	G	9.732	1.162415	0.21538	.	.	ENSG00000162739	ENST00000368059;ENST00000368057;ENST00000368055	T;T;T	0.29917	1.55;1.55;1.55	4.37	-3.22	0.05125	Immunoglobulin-like fold (1);	1.391060	0.04216	N	0.332626	T	0.06234	0.0161	N	0.17345	0.48	0.09310	N	1	P;P;P;P;P;P	0.49307	0.828;0.828;0.922;0.695;0.741;0.741	B;P;B;B;B;B	0.47251	0.437;0.542;0.27;0.149;0.232;0.232	T	0.10567	-1.0624	10	0.02654	T	1	0.1902	7.9906	0.30237	0.0:0.2568:0.211:0.5322	.	23;23;85;134;134;134	B7Z6A7;Q5TAS6;B4E1U5;Q96DU3-2;Q96DU3;B2R8X8	.;.;.;.;SLAF6_HUMAN;.	K	134;134;23	ENSP00000357038:Q134K;ENSP00000357036:Q134K;ENSP00000357034:Q23K	ENSP00000357034:Q23K	Q	-	1	0	SLAMF6	158727785	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.275000	0.08525	-0.738000	0.04817	-0.169000	0.13324	CAA		0.418	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931	
SHCBP1L	81626	broad.mit.edu	37	1	182898838	182898838	+	Nonsense_Mutation	SNP	T	T	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:182898838T>A	ENST00000367547.3	-	6	1362	c.1126A>T	c.(1126-1128)Aga>Tga	p.R376*	SHCBP1L_ENST00000423786.1_Nonsense_Mutation_p.R257*|SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	448										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						CCAAATTCTCTTTTTCCTTTC	0.279																																						uc001gpu.2																			0					0						c.(1126-1128)AGA>TGA		chromosome 1 open reading frame 14							105.0	103.0	104.0					1																	182898838		2202	4300	6502	SO:0001587	stop_gained	81626							g.chr1:182898838T>A	AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 14"""	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.1126A>T	1.37:g.182898838T>A	ENSP00000356518:p.Arg376*					C1orf14_uc001gpv.2_Nonsense_Mutation_p.R257*|C1orf14_uc010pnz.1_Nonsense_Mutation_p.R234*|C1orf14_uc001gpw.2_Nonsense_Mutation_p.R96*	p.R376*	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN		Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)	6	1411	-			448					Q4G195|Q9BZQ3|Q9H2B6	Nonsense_Mutation	SNP	ENST00000367547.3	37	c.1126A>T	CCDS30955.1	.	.	.	.	.	.	.	.	.	.	T	33	5.272838	0.95429	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	.	.	.	5.88	3.44	0.39384	.	0.287039	0.30210	N	0.010159	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8964	10.8788	0.46927	0.0:0.0:0.3016:0.6984	.	.	.	.	X	376;445;257	.	ENSP00000287709:R445X	R	-	1	2	SHCBP1L	181165461	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	4.578000	0.60929	0.425000	0.26087	0.524000	0.50904	AGA		0.279	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933	
NCF2	4688	broad.mit.edu	37	1	183532621	183532621	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:183532621G>A	ENST00000367535.3	-	12	1377	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	NCF2_ENST00000367536.1_Missense_Mutation_p.R376W|NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000418089.1_Missense_Mutation_p.R295W|NCF2_ENST00000413720.1_Missense_Mutation_p.R331W	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	376	OPR.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	ACCATGTCCCGGACCTGGCTG	0.567																																						uc001gqj.3																			0				ovary(3)	3						c.(1126-1128)CGG>TGG		neutrophil cytosolic factor 2							113.0	114.0	113.0					1																	183532621		2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183532621G>A	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.1126C>T	1.37:g.183532621G>A	ENSP00000356505:p.Arg376Trp					NCF2_uc010pod.1_Missense_Mutation_p.R331W|NCF2_uc010poe.1_Missense_Mutation_p.R295W|NCF2_uc001gqk.3_Missense_Mutation_p.R376W	p.R376W	NM_000433	NP_000424	P19878	NCF2_HUMAN			12	1401	-			376			OPR.		B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.1126C>T	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175984	0.38413	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535;ENST00000420553;ENST00000419402	T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71	5.47	3.26	0.37387	Phox/Bem1p (2);	0.448192	0.23563	N	0.046831	T	0.20618	0.0496	L	0.44542	1.39	0.09310	N	1	B;B;B	0.18310	0.009;0.027;0.002	B;B;B	0.14578	0.008;0.011;0.007	T	0.13522	-1.0506	10	0.37606	T	0.19	0.9419	9.8752	0.41200	0.2379:0.0:0.7621:0.0	.	295;331;376	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	W	376;448;331;295;376;27;115	ENSP00000356506:R376W;ENSP00000399294:R331W;ENSP00000407217:R295W;ENSP00000356505:R376W;ENSP00000397228:R27W;ENSP00000406198:R115W	ENSP00000356505:R376W	R	-	1	2	NCF2	181799244	0.144000	0.22641	0.060000	0.19600	0.964000	0.63967	0.551000	0.23361	1.321000	0.45227	0.650000	0.86243	CGG		0.567	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433	
CFHR5	81494	broad.mit.edu	37	1	196977626	196977626	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:196977626T>C	ENST00000256785.4	+	10	1632	c.1523T>C	c.(1522-1524)gTg>gCg	p.V508A	CFHR5_ENST00000367414.5_Missense_Mutation_p.V532A			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	508	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GATCCATGTGTGGTATCTGAA	0.289																																						uc001gts.3																			0				breast(1)|skin(1)	2						c.(1522-1524)GTG>GCG		complement factor H-related 5 precursor							41.0	39.0	40.0					1																	196977626		2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196977626T>C	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1523T>C	1.37:g.196977626T>C	ENSP00000256785:p.Val508Ala						p.V508A	NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN			10	1651	+			508			Sushi 9.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.1523T>C	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	T	9.813	1.183728	0.21870	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.47177	0.85;0.85	4.23	2.85	0.33270	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	T	0.35799	0.0944	L	0.59912	1.85	0.09310	N	1	P	0.36378	0.55	B	0.34452	0.183	T	0.15037	-1.0451	9	0.14252	T	0.57	.	4.2925	0.10885	0.0:0.207:0.0:0.793	.	508	Q9BXR6	FHR5_HUMAN	A	532;508	ENSP00000356384:V532A;ENSP00000256785:V508A	ENSP00000256785:V508A	V	+	2	0	CFHR5	195244249	0.129000	0.22400	0.453000	0.27007	0.011000	0.07611	0.513000	0.22770	1.675000	0.50919	0.459000	0.35465	GTG		0.289	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787	
USH2A	7399	broad.mit.edu	37	1	216498789	216498789	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:216498789C>T	ENST00000307340.3	-	6	1387	c.1001G>A	c.(1000-1002)cGg>cAg	p.R334Q	USH2A_ENST00000366942.3_Missense_Mutation_p.R334Q|USH2A_ENST00000366943.2_Missense_Mutation_p.R334Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	334	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.		R -> Q (in USH2A). {ECO:0000269|PubMed:17405132}.|R -> W (in USH2A). {ECO:0000269|PubMed:10738000, ECO:0000269|PubMed:15025721, ECO:0000269|PubMed:17405132, ECO:0000269|PubMed:18273898}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGGATTCAACCGTGACACTCT	0.468										HNSCC(13;0.011)																												uc001hku.1																			0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	GRCh37	CM073403	USH2A	M		c.(1000-1002)CGG>CAG		usherin isoform B							111.0	100.0	103.0					1																	216498789		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216498789C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1001G>A	1.37:g.216498789C>T	ENSP00000305941:p.Arg334Gln	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.R334Q	p.R334Q	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	6	1388	-			334		R -> Q (in USH2A).|R -> W (in USH2A).	Laminin N-terminal.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1001G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065200	0.93898	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.21734	2.38;2.37;1.99	5.36	5.36	0.76844	Laminin, N-terminal (2);	0.000000	0.41500	D	0.000870	T	0.53530	0.1802	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.59177	-0.7503	10	0.59425	D	0.04	.	19.0927	0.93233	0.0:1.0:0.0:0.0	.	334;334	O75445-2;O75445	.;USH2A_HUMAN	Q	334	ENSP00000305941:R334Q;ENSP00000355910:R334Q;ENSP00000355909:R334Q	ENSP00000305941:R334Q	R	-	2	0	USH2A	214565412	1.000000	0.71417	0.991000	0.47740	0.647000	0.38526	5.782000	0.68973	2.510000	0.84645	0.650000	0.86243	CGG		0.468	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
OR14A16	284532	broad.mit.edu	37	1	247978682	247978682	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:247978682G>A	ENST00000357627.1	-	1	349	c.350C>T	c.(349-351)tCc>tTc	p.S117F		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GCGGTCAAAGGACATCACCGT	0.483																																					Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1																			0					0						c.(349-351)TCC>TTC		olfactory receptor, family 14, subfamily A,							115.0	107.0	110.0					1																	247978682		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978682G>A	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.350C>T	1.37:g.247978682G>A	ENSP00000350248:p.Ser117Phe						p.S117F	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	350	-			117			Helical; Name=3; (Potential).		Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.350C>T	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.803066	0.50315	.	.	ENSG00000196772	ENST00000357627	T	0.51071	0.72	3.51	1.16	0.20824	GPCR, rhodopsin-like superfamily (1);	0.538297	0.14870	U	0.293574	T	0.67477	0.2897	H	0.96547	3.84	0.24484	N	0.994335	P	0.47409	0.895	P	0.47786	0.557	T	0.66693	-0.5859	10	0.87932	D	0	.	13.5281	0.61607	0.0:0.4238:0.5762:0.0	.	117	Q8NHC5	O14AG_HUMAN	F	117	ENSP00000350248:S117F	ENSP00000350248:S117F	S	-	2	0	OR14A16	246045305	0.910000	0.30920	0.198000	0.23420	0.755000	0.42902	3.164000	0.50770	0.102000	0.17638	0.590000	0.80494	TCC		0.483	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966	
OR2L13	284521	broad.mit.edu	37	1	248263535	248263535	+	Silent	SNP	C	C	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:248263535C>A	ENST00000358120.2	+	2	1003	c.858C>A	c.(856-858)ccC>ccA	p.P286P	OR2L13_ENST00000366478.2_Silent_p.P286P			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P286P(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TGCTCAATCCCATTATCTACA	0.493																																						uc001ids.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(856-858)CCC>CCA		olfactory receptor, family 2, subfamily L,							69.0	70.0	70.0					1																	248263535		2203	4300	6503	SO:0001819	synonymous_variant	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263535C>A	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.858C>A	1.37:g.248263535C>A							p.P286P	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	1195	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		286			Helical; Name=7; (Potential).		Q5VUR5	Silent	SNP	ENST00000358120.2	37	c.858C>A	CCDS1637.1																																																																																				0.493	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911	
LMNTD2	256329	broad.mit.edu	37	11	556905	556905	+	Silent	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:556905C>T	ENST00000329451.3	-	8	968	c.906G>A	c.(904-906)ccG>ccA	p.P302P	RP11-496I9.1_ENST00000527620.1_RNA|RP11-496I9.1_ENST00000527113.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		302										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTCCCGGGGCGGGTGCCCTA	0.697																																						uc001lpx.2																			0				pancreas(1)	1						c.(904-906)CCG>CCA		hypothetical protein LOC256329							15.0	17.0	16.0					11																	556905		2186	4279	6465	SO:0001819	synonymous_variant	256329							g.chr11:556905C>T																												ENST00000329451.3:c.906G>A	11.37:g.556905C>T						uc001lpy.2_5'Flank|uc001lpz.2_5'Flank	p.P302P	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	969	-		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	302						Silent	SNP	ENST00000329451.3	37	c.906G>A	CCDS7701.1																																																																																				0.697	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2		
MUC5AC	4586	broad.mit.edu	37	11	1156628	1156628	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:1156628C>T	ENST00000356191.2	+	10	637	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	212	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GGGACTTCAACGGGATGCCCG	0.617																																						uc009ycr.1																			0					0						c.(643-645)AAC>AAT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							123.0	118.0	119.0					11																	1156628		875	1990	2865	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1156628C>T	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.637C>T	11.37:g.1156628C>T	ENSP00000348519:p.Arg213Trp						p.N215N	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	7	771	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	211			VWFD 1.		O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Silent	SNP	ENST00000356191.2	37	c.645C>T		.	.	.	.	.	.	.	.	.	.	c	4.030	0.002995	0.07866	.	.	ENSG00000215182	ENST00000356191	T	0.19938	2.11	3.27	-2.32	0.06745	.	.	.	.	.	T	0.26268	0.0641	.	.	.	.	.	.	.	.	.	.	.	.	T	0.45483	-0.9258	5	0.87932	D	0	.	9.4148	0.38514	0.0:0.4:0.0:0.6	.	.	.	.	W	213	ENSP00000348519:R213W	ENSP00000348519:R213W	R	+	1	2	MUC5AC	1146628	0.002000	0.14202	0.478000	0.27316	0.067000	0.16453	-1.546000	0.02188	-0.359000	0.08150	-0.241000	0.12123	CGG		0.617	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382	
SERPING1	710	broad.mit.edu	37	11	57365774	57365776	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:57365774_57365776delCTG	ENST00000278407.4	+	2	258_260	c.31_33delCTG	c.(31-33)ctgdel	p.L15del	SERPING1_ENST00000403558.1_In_Frame_Del_p.L49del|SERPING1_ENST00000340687.6_In_Frame_Del_p.L15del|SERPING1_ENST00000378323.4_In_Frame_Del_p.L15del|SERPING1_ENST00000378324.2_Intron	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	15					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GCTGACCCTCCTGCTGCTGCTGC	0.714																																						uc001nkp.1																			0				central_nervous_system(1)	1						c.(31-33)CTGdel		serpin peptidase inhibitor, clade G, member 1			,	70,4042		1,68,1987					,	0.6	1.0			7	176,7928		6,164,3882	no	coding,coding	SERPING1	NM_001032295.1,NM_000062.2	,	7,232,5869	A1A1,A1R,RR		2.1718,1.7023,2.0138	,	,		246,11970				SO:0001651	inframe_deletion	710	Hereditary_Angioedema			blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57365774_57365776delCTG	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.31_33delCTG	11.37:g.57365783_57365785delCTG	ENSP00000278407:p.Leu15del					SERPING1_uc001nkq.1_In_Frame_Del_p.L15del|SERPING1_uc010rju.1_Intron|SERPING1_uc010rjv.1_In_Frame_Del_p.L15del|SERPING1_uc001nkr.1_In_Frame_Del_p.L15del|SERPING1_uc009ymi.1_In_Frame_Del_p.L15del|SERPING1_uc009ymj.1_In_Frame_Del_p.L15del|SERPING1_uc001nks.1_5'UTR	p.L15del	NM_000062	NP_000053	P05155	IC1_HUMAN			2	222_224	+			15					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	In_Frame_Del	DEL	ENST00000278407.4	37	c.31_33delCTG	CCDS7962.1																																																																																				0.714	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062	
VPS51	738	broad.mit.edu	37	11	64876819	64876819	+	Missense_Mutation	SNP	C	C	T	rs140677028		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:64876819C>T	ENST00000279281.3	+	6	1603	c.1511C>T	c.(1510-1512)aCg>aTg	p.T504M	TM7SF2_ENST00000279263.7_5'Flank|AP003068.9_ENST00000528887.1_RNA|VPS51_ENST00000527646.1_3'UTR|TM7SF2_ENST00000540748.1_5'Flank|TM7SF2_ENST00000345348.5_5'Flank	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	504					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											ATGTGCCAGACGGCTCAGAGC	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18805	0.0		0.0	False		,,,				2504	0.0					uc001ocr.1																			0					0						c.(1510-1512)ACG>ATG		chromosome 11 open reading frame 2		C	MET/THR	0,4402		0,0,2201	93.0	89.0	90.0		1511	4.6	1.0	11	dbSNP_134	90	3,8591	3.0+/-9.4	0,3,4294	yes	missense	C11orf2	NM_013265.2	81	0,3,6495	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	504/783	64876819	3,12993	2201	4297	6498	SO:0001583	missense	738				lipid transport|protein transport	Golgi apparatus|integral to membrane		g.chr11:64876819C>T	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"""fat-free homolog (zebrafish)"""	615738	"""chromosome 11 open reading frame 3"", ""chromosome 11 open reading frame 2"""	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.1511C>T	11.37:g.64876819C>T	ENSP00000279281:p.Thr504Met					TM7SF2_uc001oct.2_5'Flank|TM7SF2_uc010rny.1_5'Flank|TM7SF2_uc001ocu.2_5'Flank|TM7SF2_uc001ocv.2_5'Flank|C11orf2_uc001ocs.1_Missense_Mutation_p.T380M	p.T504M	NM_013265	NP_037397	Q9UID3	FFR_HUMAN			6	1551	+			504					Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Missense_Mutation	SNP	ENST00000279281.3	37	c.1511C>T	CCDS8093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.132064|4.132064	0.77662|0.77662	0.0|0.0	3.49E-4|3.49E-4	ENSG00000149823|ENSG00000149823	ENST00000526856|ENST00000279281	.|.	.|.	.|.	5.52|5.52	4.61|4.61	0.57282|0.57282	.|.	.|0.054904	.|0.64402	.|D	.|0.000001	T|T	0.52338|0.52338	0.1728|0.1728	M|M	0.69823|0.69823	2.125|2.125	0.44927|0.44927	D|D	0.997941|0.997941	.|P	.|0.42203	.|0.773	.|B	.|0.33960	.|0.173	T|T	0.56878|0.56878	-0.7906|-0.7906	5|9	.|0.45353	.|T	.|0.12	-18.4038|-18.4038	12.1148|12.1148	0.53860|0.53860	0.0:0.9162:0.0:0.0838|0.0:0.9162:0.0:0.0838	.|.	.|504	.|Q9UID3	.|FFR_HUMAN	W|M	2|504	.|.	.|ENSP00000279281:T504M	R|T	+|+	1|2	2|0	C11orf2|C11orf2	64633395|64633395	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.922000|0.922000	0.55478|0.55478	4.812000|4.812000	0.62613|0.62613	1.335000|1.335000	0.45486|0.45486	0.561000|0.561000	0.74099|0.74099	CGG|ACG		0.647	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1	NM_013265	
DYNC2H1	79659	broad.mit.edu	37	11	102988581	102988581	+	Missense_Mutation	SNP	C	C	T	rs397514637	byFrequency	TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:102988581C>T	ENST00000375735.2	+	6	1132	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.R330C|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R330C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	330	Stem. {ECO:0000250}.		R -> C (in SRTD3). {ECO:0000269|PubMed:22499340, ECO:0000269|PubMed:23456818}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ACTTGGCAAACGCCTTGAAGA	0.333													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17271	0.001		0.0	False		,,,				2504	0.0					uc001pho.2																			0					0						c.(988-990)CGC>TGC		dynein, cytoplasmic 2, heavy chain 1							57.0	55.0	56.0					11																	102988581		1852	4103	5955	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:102988581C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.988C>T	11.37:g.102988581C>T	ENSP00000364887:p.Arg330Cys					DYNC2H1_uc001phn.1_Missense_Mutation_p.R330C|DYNC2H1_uc009yxe.1_Missense_Mutation_p.R330C	p.R330C	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	6	1132	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	330			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.988C>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129453	0.77549	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.66099	-0.19;-0.19;-0.19	5.26	5.26	0.73747	Dynein heavy chain, domain-1 (1);	4.029100	0.02609	U	0.101944	D	0.85687	0.5754	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.993	T	0.71619	-0.4538	10	0.87932	D	0	.	18.8962	0.92424	0.0:1.0:0.0:0.0	.	330;330;330	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	C	330	ENSP00000364887:R330C;ENSP00000334021:R330C;ENSP00000381167:R330C	ENSP00000334021:R330C	R	+	1	0	DYNC2H1	102493791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.844000	0.62846	2.439000	0.82584	0.650000	0.86243	CGC		0.333	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
TECTA	7007	broad.mit.edu	37	11	120998519	120998519	+	Silent	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:120998519C>T	ENST00000392793.1	+	9	2104	c.1833C>T	c.(1831-1833)ccC>ccT	p.P611P	TECTA_ENST00000264037.2_Silent_p.P611P			O75443	TECTA_HUMAN	tectorin alpha	611	TIL 1.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCAGCTGCCCCGACACATGCT	0.637																																						uc010rzo.1																			0				breast(6)|ovary(2)|skin(2)	10						c.(1831-1833)CCC>CCT		tectorin alpha precursor							65.0	66.0	66.0					11																	120998519		2203	4298	6501	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120998519C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1833C>T	11.37:g.120998519C>T							p.P611P	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	8	1833	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	611			TIL 1.			Silent	SNP	ENST00000392793.1	37	c.1833C>T	CCDS8434.1																																																																																				0.637	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
TECTA	7007	broad.mit.edu	37	11	121031074	121031074	+	Silent	SNP	G	G	A	rs560030286		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:121031074G>A	ENST00000392793.1	+	15	5191	c.4920G>A	c.(4918-4920)ccG>ccA	p.P1640P	TECTA_ENST00000264037.2_Silent_p.P1640P			O75443	TECTA_HUMAN	tectorin alpha	1640	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGGGAAGCCGGTGGTAAGCA	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		19443	0.0		0.001	False		,,,				2504	0.0					uc010rzo.1																			0				breast(6)|ovary(2)|skin(2)	10						c.(4918-4920)CCG>CCA		tectorin alpha precursor							148.0	143.0	145.0					11																	121031074		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121031074G>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4920G>A	11.37:g.121031074G>A							p.P1640P	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	14	4920	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1640			VWFD 4.			Silent	SNP	ENST00000392793.1	37	c.4920G>A	CCDS8434.1																																																																																				0.542	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
TAS2R10	50839	broad.mit.edu	37	12	10978396	10978396	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:10978396T>C	ENST00000240619.2	-	1	561	c.473A>G	c.(472-474)aAt>aGt	p.N158S		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	158					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GACTGTGTCATTCTTCGTTTT	0.299																																						uc001qyy.1																			0					0						c.(472-474)AAT>AGT		taste receptor, type 2, member 10							46.0	47.0	47.0					12																	10978396		2201	4294	6495	SO:0001583	missense	50839				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10978396T>C	AF227136	CCDS8634.1	12p13	2012-08-22			ENSG00000121318	ENSG00000121318		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14918	protein-coding gene	gene with protein product		604791				10761934, 10766242	Standard	NM_023921		Approved	T2R10, TRB2	uc001qyy.1	Q9NYW0	OTTHUMG00000168508	ENST00000240619.2:c.473A>G	12.37:g.10978396T>C	ENSP00000240619:p.Asn158Ser						p.N158S	NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN			1	473	-			158			Extracellular (Potential).		Q3MIM9|Q6NTD9	Missense_Mutation	SNP	ENST00000240619.2	37	c.473A>G	CCDS8634.1	.	.	.	.	.	.	.	.	.	.	T	4.436	0.080644	0.08533	.	.	ENSG00000121318	ENST00000240619	T	0.39229	1.09	4.82	-0.483	0.12075	.	22.498400	0.02577	U	0.098466	T	0.21062	0.0507	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.21546	0.035	T	0.16100	-1.0414	10	0.07325	T	0.83	.	5.0051	0.14284	0.0:0.2508:0.1466:0.6026	.	158	Q9NYW0	T2R10_HUMAN	S	158	ENSP00000240619:N158S	ENSP00000240619:N158S	N	-	2	0	TAS2R10	10869663	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.113000	0.10774	-0.253000	0.09514	-0.326000	0.08463	AAT		0.299	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399934.1		
GRIN2B	2904	broad.mit.edu	37	12	13720091	13720091	+	Missense_Mutation	SNP	G	G	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:13720091G>C	ENST00000609686.1	-	12	2675	c.2466C>G	c.(2464-2466)ttC>ttG	p.F822L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	822					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCAACATGTAGAAGACCCCTG	0.507																																						uc001rbt.2																			0				central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(2464-2466)TTC>TTG		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						128.0	117.0	121.0					12																	13720091		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13720091G>C		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2466C>G	12.37:g.13720091G>C	ENSP00000477455:p.Phe822Leu						p.F822L	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			12	2645	-			822			Helical; (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2466C>G	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	35	5.449863	0.96205	.	.	ENSG00000150086	ENST00000279593	T	0.72167	-0.63	5.43	5.43	0.79202	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.87321	0.6148	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89402	0.3696	10	0.87932	D	0	.	19.2468	0.93905	0.0:0.0:1.0:0.0	.	822	Q13224	NMDE2_HUMAN	L	822	ENSP00000279593:F822L	ENSP00000279593:F822L	F	-	3	2	GRIN2B	13611358	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.863000	0.99569	2.554000	0.86153	0.650000	0.86243	TTC		0.507	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2		
MTERF2	80298	broad.mit.edu	37	12	107371558	107371559	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:107371558_107371559insAT	ENST00000552029.1	-	2	3002_3003	c.934_935insAT	c.(934-936)tccfs	p.S312fs	C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000240050.4_Frame_Shift_Ins_p.S312fs|MTERFD3_ENST00000392830.2_Frame_Shift_Ins_p.S312fs			Q49AM1	MTEF2_HUMAN		312					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						CTGAGCTATGGAAATTCCTTCT	0.371																																						uc001tme.1																			0					0						c.(934-936)TCCfs		transcription termination factor-like protein																																				SO:0001589	frameshift_variant	80298				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding	g.chr12:107371558_107371559insAT																												ENST00000552029.1:c.934_935insAT	12.37:g.107371558_107371559insAT	ENSP00000447651:p.Ser312fs					MTERFD3_uc001tmf.1_Frame_Shift_Ins_p.S312fs|MTERFD3_uc001tmg.1_Frame_Shift_Ins_p.S312fs|MTERFD3_uc001tmh.1_Frame_Shift_Ins_p.S312fs	p.S312fs	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN			2	2753_2754	-			312					Q53HM2|Q9H4L6|Q9H7Y9	Frame_Shift_Ins	INS	ENST00000552029.1	37	c.934_935insAT	CCDS9111.1																																																																																				0.371	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1		
PTPN11	5781	broad.mit.edu	37	12	112888189	112888189	+	Missense_Mutation	SNP	G	G	A	rs397507511		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:112888189G>A	ENST00000351677.2	+	3	403	c.205G>A	c.(205-207)Gag>Aag	p.E69K	PTPN11_ENST00000392597.1_Missense_Mutation_p.E69K	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	69	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.		E -> K (in JMML; also in myelodysplastic syndrome). {ECO:0000269|PubMed:12717436}.|E -> Q (in NS1). {ECO:0000269|PubMed:12634870}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.E69K(16)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GTATGGAGGGGAGAAATTTGC	0.428			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																													uc001ttx.2				Dom	yes		12	12q24.1	5781	Mis	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	Noonan Syndrome	L			JMML|AML|MDS		16	Substitution - Missense(16)	p.E69K(15)|p.E69V(1)|p.E69G(1)	haematopoietic_and_lymphoid_tissue(14)|soft_tissue(1)|central_nervous_system(1)	haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392	GRCh37	CM030493	PTPN11	M		c.(205-207)GAG>AAG		protein tyrosine phosphatase, non-receptor type							151.0	140.0	143.0					12																	112888189		2203	4300	6503	SO:0001583	missense	5781	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112888189G>A	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.205G>A	12.37:g.112888189G>A	ENSP00000340944:p.Glu69Lys					PTPN11_uc001ttw.1_Missense_Mutation_p.E69K	p.E69K	NM_002834	NP_002825	Q06124	PTN11_HUMAN			3	585	+			69		E -> K (in JMML; also in myelodysplastic syndrome).|E -> Q (in NS1).	SH2 1.		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.205G>A	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	G	34	5.338342	0.95783	.	.	ENSG00000179295	ENST00000392597;ENST00000351677;ENST00000392596	D;D	0.88509	-2.39;-2.39	5.9	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.91784	0.7401	L	0.53617	1.68	0.80722	D	1	D;D	0.60160	0.987;0.987	P;P	0.60236	0.871;0.817	D	0.92568	0.6064	10	0.87932	D	0	.	14.8021	0.69924	0.0688:0.0:0.9312:0.0	.	69;69	Q06124-2;Q06124-3	.;.	K	69	ENSP00000376376:E69K;ENSP00000340944:E69K	ENSP00000340944:E69K	E	+	1	0	PTPN11	111372572	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.860000	0.99555	1.496000	0.48567	0.650000	0.86243	GAG		0.428	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2		
KSR2	283455	broad.mit.edu	37	12	117993006	117993006	+	Missense_Mutation	SNP	G	G	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:117993006G>C	ENST00000339824.5	-	9	2213	c.1486C>G	c.(1486-1488)Cag>Gag	p.Q496E	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000425217.1_Missense_Mutation_p.Q467E|KSR2_ENST00000302438.5_Missense_Mutation_p.Q193E			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	496					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGAGCGTCTGACTGATGTGC	0.577																																						uc001two.2																			0				lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15						c.(1399-1401)CAG>GAG		kinase suppressor of ras 2							147.0	158.0	154.0					12																	117993006		1986	4163	6149	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117993006G>C	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1486C>G	12.37:g.117993006G>C	ENSP00000339952:p.Gln496Glu						p.Q467E	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			9	1454	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		496					A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1399C>G		.	.	.	.	.	.	.	.	.	.	G	8.767	0.924953	0.18056	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;D	0.85258	-1.12;-1.12;-1.96	5.1	5.1	0.69264	.	0.142467	0.49305	D	0.000145	T	0.73345	0.3575	N	0.22421	0.69	0.58432	D	0.999996	P	0.35844	0.524	B	0.31751	0.135	T	0.73316	-0.4021	10	0.05436	T	0.98	.	18.1304	0.89599	0.0:0.0:1.0:0.0	.	496	Q6VAB6	KSR2_HUMAN	E	467;496;193;168	ENSP00000389715:Q467E;ENSP00000339952:Q496E;ENSP00000305466:Q193E	ENSP00000305466:Q193E	Q	-	1	0	KSR2	116477389	1.000000	0.71417	0.973000	0.42090	0.989000	0.77384	9.266000	0.95659	2.359000	0.80004	0.655000	0.94253	CAG		0.577	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598	
GOLGA3	2802	broad.mit.edu	37	12	133373156	133373156	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:133373156G>A	ENST00000450791.2	-	9	2252	c.2069C>T	c.(2068-2070)tCg>tTg	p.S690L	GOLGA3_ENST00000537452.1_Missense_Mutation_p.S690L|GOLGA3_ENST00000456883.2_Missense_Mutation_p.S690L|GOLGA3_ENST00000545875.1_Missense_Mutation_p.S690L|GOLGA3_ENST00000204726.3_Missense_Mutation_p.S690L			Q08378	GOGA3_HUMAN	golgin A3	690	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GGATGCCGCCGAGTCCGCCAT	0.622																																						uc001ukz.1																			0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(2068-2070)TCG>TTG		Golgi autoantigen, golgin subfamily a, 3							132.0	129.0	130.0					12																	133373156		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133373156G>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2069C>T	12.37:g.133373156G>A	ENSP00000410378:p.Ser690Leu					GOLGA3_uc001ula.1_Missense_Mutation_p.S690L|GOLGA3_uc001ulb.2_Missense_Mutation_p.S690L	p.S690L	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	10	2628	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	690			Gln-rich.|Potential.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.2069C>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	8.714	0.912771	0.17907	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.33216	1.85;1.85;1.85;1.42;1.42	5.48	3.66	0.41972	.	0.411944	0.28322	N	0.015775	T	0.22975	0.0555	L	0.38531	1.155	0.33532	D	0.593815	B;B;B	0.25772	0.134;0.077;0.078	B;B;B	0.17722	0.019;0.013;0.014	T	0.20472	-1.0274	10	0.42905	T	0.14	.	10.5074	0.44842	0.1508:0.0:0.8492:0.0	.	690;690;690	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	L	690	ENSP00000204726:S690L;ENSP00000410378:S690L;ENSP00000409303:S690L;ENSP00000442143:S690L;ENSP00000442603:S690L	ENSP00000204726:S690L	S	-	2	0	GOLGA3	131883229	1.000000	0.71417	0.000000	0.03702	0.001000	0.01503	5.225000	0.65294	0.685000	0.31468	-0.136000	0.14681	TCG		0.622	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895	
TUBA3C	7278	broad.mit.edu	37	13	19751438	19751438	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr13:19751438G>A	ENST00000400113.3	-	4	789	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	229					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCAATCAGGCGATTGAGGTTG	0.547																																						uc009zzj.2																			0				ovary(3)|skin(2)	5						c.(685-687)CGC>TGC		tubulin, alpha 3c							194.0	164.0	174.0					13																	19751438		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751438G>A	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.685C>T	13.37:g.19751438G>A	ENSP00000382982:p.Arg229Cys						p.R229C	NM_006001	NP_005992	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	734	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	229					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.685C>T	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	5.621	0.299282	0.10622	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.69306	-0.39	1.19	1.19	0.21007	.	0.000000	0.44688	U	0.000427	T	0.70456	0.3226	.	.	.	0.47698	D	0.999492	.	.	.	.	.	.	T	0.71994	-0.4424	7	0.87932	D	0	.	8.3297	0.32178	0.0:0.0:1.0:0.0	.	.	.	.	C	229	ENSP00000382982:R229C	ENSP00000354037:R229C	R	-	1	0	TUBA3C	18649438	1.000000	0.71417	0.980000	0.43619	0.249000	0.25844	1.534000	0.36051	0.972000	0.38314	0.175000	0.17021	CGC		0.547	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001	
PAN3	255967	broad.mit.edu	37	13	28794483	28794483	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr13:28794483T>C	ENST00000380958.3	+	6	1120	c.968T>C	c.(967-969)aTg>aCg	p.M323T	PAN3_ENST00000399613.1_Missense_Mutation_p.M123T	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CACCCATCCATGGGAAGCCCT	0.448																																						uc001urz.2																			0				ovary(1)	1						c.(529-531)ATG>ACG		PABP1-dependent poly A-specific ribonuclease							190.0	189.0	189.0					13																	28794483		2203	4300	6503	SO:0001583	missense	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28794483T>C	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.968T>C	13.37:g.28794483T>C	ENSP00000370345:p.Met323Thr					PAN3_uc010tdo.1_Missense_Mutation_p.M323T|PAN3_uc001ury.2_5'UTR|PAN3_uc001urx.2_Missense_Mutation_p.M123T	p.M177T	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	5	538	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	323			Interaction with polyadenylate-binding protein.			Missense_Mutation	SNP	ENST00000380958.3	37	c.530T>C	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	T	14.07	2.425554	0.43020	.	.	ENSG00000152520	ENST00000380958;ENST00000399613	T;T	0.41400	1.0;1.03	5.6	5.6	0.85130	.	0.180459	0.64402	D	0.000018	T	0.28632	0.0709	N	0.14661	0.345	0.80722	D	1	B;B;B	0.12630	0.001;0.006;0.001	B;B;B	0.09377	0.004;0.004;0.002	T	0.04976	-1.0914	10	0.31617	T	0.26	-4.8345	15.7865	0.78306	0.0:0.0:0.0:1.0	.	323;323;269	Q58A45-4;Q58A45;Q58A45-3	.;PAN3_HUMAN;.	T	323;123	ENSP00000370345:M323T;ENSP00000382522:M123T	ENSP00000370345:M323T	M	+	2	0	PAN3	27692483	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.797000	0.69087	2.125000	0.65367	0.454000	0.30748	ATG		0.448	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854	
OR4M1	441670	broad.mit.edu	37	14	20248896	20248896	+	Missense_Mutation	SNP	C	C	T	rs148303756	byFrequency	TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr14:20248896C>T	ENST00000315957.4	+	1	496	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATGAATCGACGTCTCTGCTG	0.517																																						uc010tku.1																			0					0						c.(415-417)CGT>TGT		olfactory receptor, family 4, subfamily M,			CYS/ARG	1,4405		0,1,2202	262.0	271.0	268.0		415	1.3	0.2	14	dbSNP_134	268	3,8597		0,3,4297	no	missense	OR4M1	NM_001005500.1	180	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	benign	139/314	20248896	4,13002	2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248896C>T		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.415C>T	14.37:g.20248896C>T	ENSP00000319654:p.Arg139Cys						p.R139C	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	415	+	all_cancers(95;0.00108)		139			Cytoplasmic (Potential).		B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.415C>T	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	7.546	0.661598	0.14645	2.27E-4	3.49E-4	ENSG00000176299	ENST00000315957	T	0.43294	0.95	4.33	1.29	0.21616	GPCR, rhodopsin-like superfamily (1);	0.585977	0.15415	N	0.263523	T	0.40694	0.1127	M	0.83483	2.645	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46857	-0.9161	10	0.72032	D	0.01	1.0E-4	3.4056	0.07340	0.2918:0.4981:0.0:0.2101	.	139	Q8NGD0	OR4M1_HUMAN	C	139	ENSP00000319654:R139C	ENSP00000319654:R139C	R	+	1	0	OR4M1	19318736	0.000000	0.05858	0.250000	0.24296	0.474000	0.32979	-0.002000	0.12924	0.585000	0.29608	0.506000	0.49869	CGT		0.517	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1		
NRXN3	9369	broad.mit.edu	37	14	79432392	79432392	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr14:79432392G>A	ENST00000554719.1	+	9	1792	c.1301G>A	c.(1300-1302)cGt>cAt	p.R434H	NRXN3_ENST00000335750.5_Missense_Mutation_p.R434H	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	203					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GACCATACCCGTTTGGAGTTC	0.428																																						uc001xun.2																			0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(1300-1302)CGT>CAT		neurexin 3 isoform 1 precursor							96.0	90.0	92.0					14																	79432392		2203	4300	6503	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79432392G>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1301G>A	14.37:g.79432392G>A	ENSP00000451648:p.Arg434His					NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.R559H	p.R434H	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	9	1792	+		Renal(4;0.00876)	807			Laminin G-like 4.|Extracellular (Potential).		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.1301G>A	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341466	0.81911	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.77750	-1.12;-1.12	5.22	5.22	0.72569	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.88254	0.6387	.	.	.	0.58432	D	0.999997	D;D	0.89917	1.0;0.997	D;P	0.75020	0.985;0.818	D	0.87424	0.2384	8	.	.	.	.	19.3296	0.94280	0.0:0.0:1.0:0.0	.	807;434	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	H	807;796;434;434	ENSP00000451648:R434H;ENSP00000338349:R434H	.	R	+	2	0	NRXN3	78502145	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	7.712000	0.84684	2.873000	0.98535	0.563000	0.77884	CGT		0.428	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250	
CCDC88C	440193	broad.mit.edu	37	14	91755541	91755541	+	Missense_Mutation	SNP	G	G	A	rs570846021		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr14:91755541G>A	ENST00000389857.6	-	25	4435	c.4349C>T	c.(4348-4350)cCg>cTg	p.P1450L		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1450					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGATCTGAGCGGCTGAGAGGC	0.652													g|||	1	0.000199681	0.0	0.0014	5008	,	,		14282	0.0		0.0	False		,,,				2504	0.0					uc010aty.2																			0				ovary(3)	3						c.(4348-4350)CCG>CTG		DVL-binding protein DAPLE							77.0	85.0	83.0					14																	91755541		1883	4105	5988	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91755541G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.4349C>T	14.37:g.91755541G>A	ENSP00000374507:p.Pro1450Leu						p.P1450L	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN			25	4448	-		all_cancers(154;0.0468)	1450					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.4349C>T	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	g	8.286	0.816683	0.16607	.	.	ENSG00000015133	ENST00000389857	T	0.15603	2.41	5.37	2.28	0.28536	.	1.871890	0.03465	N	0.212819	T	0.14356	0.0347	L	0.46157	1.445	0.09310	N	1	P	0.37997	0.614	B	0.25614	0.062	T	0.29941	-0.9995	10	0.66056	D	0.02	-0.061	5.4066	0.16324	0.2445:0.0:0.5615:0.194	.	1450	Q9P219	DAPLE_HUMAN	L	1450	ENSP00000374507:P1450L	ENSP00000374507:P1450L	P	-	2	0	CCDC88C	90825294	0.002000	0.14202	0.040000	0.18447	0.058000	0.15608	0.424000	0.21330	1.272000	0.44329	-0.215000	0.12644	CCG		0.652	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353	
RPS8P10	388076	broad.mit.edu	37	15	22440504	22440504	+	IGR	SNP	A	A	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr15:22440504A>G								RP11-2F9.4 (4327 upstream) : IGHV1OR15-1 (7877 downstream)																							GCATAGTGGGACTCGTACCAC	0.478																																						uc001yug.2																			0											c.(343-345)TCC>CCC		full-length cDNA clone CS0DI014YE21 of Placenta Cot 25-normalized of Homo sapiens (human).																																				SO:0001628	intergenic_variant	0							g.chr15:22440504A>G																													15.37:g.22440504A>G							p.S115P							1	362	-									Missense_Mutation	SNP		37	c.343T>C																																																																																				0	0.478								
ADAM10	102	broad.mit.edu	37	15	58957380	58957380	+	Silent	SNP	G	G	A	rs200804344		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr15:58957380G>A	ENST00000260408.3	-	5	944	c.501C>T	c.(499-501)taC>taT	p.Y167Y	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	167					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CCTGAGGACCGTATTTATGGG	0.348																																						uc002afd.1																			0				skin(2)	2						c.(499-501)TAC>TAT		ADAM metallopeptidase domain 10 precursor		G		0,4384		0,0,2192	120.0	117.0	118.0		501	-2.5	1.0	15		118	1,8583	1.2+/-3.3	0,1,4291	no	coding-synonymous	ADAM10	NM_001110.2		0,1,6483	AA,AG,GG		0.0116,0.0,0.0077		167/749	58957380	1,12967	2192	4292	6484	SO:0001819	synonymous_variant	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58957380G>A	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.501C>T	15.37:g.58957380G>A						ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron|ADAM10_uc002afg.2_Silent_p.Y167Y	p.Y167Y	NM_001110	NP_001101	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	5	945	-			167			Extracellular (Potential).		B4DU28|Q10742|Q92650	Silent	SNP	ENST00000260408.3	37	c.501C>T	CCDS10167.1																																																																																				0.348	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110	
UACA	55075	broad.mit.edu	37	15	70959297	70959297	+	Missense_Mutation	SNP	G	G	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr15:70959297G>C	ENST00000322954.6	-	16	3911	c.3726C>G	c.(3724-3726)agC>agG	p.S1242R	UACA_ENST00000560441.1_Missense_Mutation_p.S1227R|UACA_ENST00000379983.2_Missense_Mutation_p.S1229R|UACA_ENST00000539319.1_Missense_Mutation_p.S1133R	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1242					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTTCATTTAAGCTAGAAATCT	0.323																																						uc002asr.2																			0				ovary(2)|pancreas(1)|skin(1)	4						c.(3724-3726)AGC>AGG		uveal autoantigen with coiled-coil domains and							116.0	117.0	117.0					15																	70959297		2199	4297	6496	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70959297G>C	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3726C>G	15.37:g.70959297G>C	ENSP00000314556:p.Ser1242Arg					UACA_uc010uke.1_Missense_Mutation_p.S1133R|UACA_uc002asq.2_Missense_Mutation_p.S1229R|UACA_uc010bin.1_Missense_Mutation_p.S1217R	p.S1242R	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN			16	3830	-			1242			Potential.		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.3726C>G	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037669	0.35989	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.34275	1.37;1.38;1.86	5.65	2.72	0.32119	.	0.442275	0.23367	N	0.048941	T	0.24005	0.0581	N	0.22421	0.69	0.21256	N	0.999744	B;B;B;B	0.33266	0.404;0.134;0.215;0.321	B;B;B;B	0.35607	0.206;0.101;0.051;0.156	T	0.12656	-1.0539	10	0.39692	T	0.17	-10.3337	8.7483	0.34600	0.1318:0.0:0.746:0.1222	.	1133;1242;1242;1229	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	R	1242;1229;1133	ENSP00000314556:S1242R;ENSP00000369319:S1229R;ENSP00000438667:S1133R	ENSP00000314556:S1242R	S	-	3	2	UACA	68746351	0.999000	0.42202	0.989000	0.46669	0.958000	0.62258	2.792000	0.47837	0.742000	0.32697	0.655000	0.94253	AGC		0.323	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2		
ALDH1A3	220	broad.mit.edu	37	15	101432805	101432805	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr15:101432805G>T	ENST00000329841.5	+	4	968	c.436G>T	c.(436-438)Ggg>Tgg	p.G146W	ALDH1A3_ENST00000346623.6_Intron|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	146					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	ATACTTTGCAGGGTGGGCAGA	0.473																																						uc002bwn.3																			0				central_nervous_system(2)|lung(1)|pancreas(1)	4						c.(436-438)GGG>TGG		aldehyde dehydrogenase 1A3	NADH(DB00157)|Vitamin A(DB00162)						125.0	126.0	126.0					15																	101432805		2203	4300	6503	SO:0001583	missense	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101432805G>T	U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.436G>T	15.37:g.101432805G>T	ENSP00000332256:p.Gly146Trp					ALDH1A3_uc010bpb.2_Intron	p.G146W	NM_000693	NP_000684	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		4	540	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		146					Q6NT64	Missense_Mutation	SNP	ENST00000329841.5	37	c.436G>T	CCDS10389.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396456	0.83011	.	.	ENSG00000184254	ENST00000329841	T	0.18810	2.19	5.52	5.52	0.82312	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.65059	0.2655	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79376	-0.1829	10	0.87932	D	0	.	18.2215	0.89903	0.0:0.0:1.0:0.0	.	146	P47895	AL1A3_HUMAN	W	146	ENSP00000332256:G146W	ENSP00000332256:G146W	G	+	1	0	ALDH1A3	99250328	1.000000	0.71417	0.976000	0.42696	0.881000	0.50899	7.141000	0.77330	2.585000	0.87301	0.555000	0.69702	GGG		0.473	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2		
SLX4	84464	broad.mit.edu	37	16	3658781	3658781	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr16:3658781A>G	ENST00000294008.3	-	2	825	c.185T>C	c.(184-186)gTg>gCg	p.V62A		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	62	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ATGTTTTTTCACCCTTTGGAA	0.438								Direct reversal of damage																														uc002cvp.2																			0					0						c.(184-186)GTG>GCG	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							149.0	138.0	142.0					16																	3658781		2197	4300	6497	SO:0001583	missense	84464	Fanconi_Anemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3658781A>G	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.185T>C	16.37:g.3658781A>G	ENSP00000294008:p.Val62Ala					BTBD12_uc002cvq.1_Missense_Mutation_p.V62A	p.V62A	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			2	812	-			62			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.185T>C	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	A	21.8	4.198230	0.79015	.	.	ENSG00000188827	ENST00000294008	T	0.02525	4.26	5.52	5.52	0.82312	.	0.000000	0.48286	D	0.000186	T	0.07954	0.0199	L	0.36672	1.1	0.26237	N	0.978932	D	0.71674	0.998	D	0.64237	0.923	T	0.08764	-1.0706	10	0.87932	D	0	.	11.4582	0.50193	0.8497:0.1502:0.0:0.0	.	62	Q8IY92	SLX4_HUMAN	A	62	ENSP00000294008:V62A	ENSP00000294008:V62A	V	-	2	0	SLX4	3598782	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.999000	0.57031	2.225000	0.72522	0.533000	0.62120	GTG		0.438	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444	
CORO7	79585	broad.mit.edu	37	16	4411454	4411454	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr16:4411454C>T	ENST00000251166.4	-	17	1740	c.1595G>A	c.(1594-1596)cGc>cAc	p.R532H	CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000539968.1_Missense_Mutation_p.R312H|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R532H|CORO7_ENST00000537233.2_Missense_Mutation_p.R514H|CORO7_ENST00000574025.1_Missense_Mutation_p.R447H|CORO7_ENST00000423908.2_3'UTR	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	532					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GTCGGGCAGGCGGCCAGGCTT	0.667																																						uc002cwh.3																			0					0						c.(1594-1596)CGC>CAC		coronin 7							43.0	45.0	45.0					16																	4411454		2196	4297	6493	SO:0001583	missense	79585					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction		g.chr16:4411454C>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1595G>A	16.37:g.4411454C>T	ENSP00000251166:p.Arg532His					CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.R532H|CORO7_uc002cwg.3_Missense_Mutation_p.R312H|CORO7_uc010uxh.1_Missense_Mutation_p.R514H|CORO7_uc010uxi.1_Missense_Mutation_p.R447H|CORO7_uc002cwi.1_Missense_Mutation_p.R312H|CORO7_uc010uxj.1_RNA	p.R532H	NM_024535	NP_078811	P57737	CORO7_HUMAN			17	1715	-			532					B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	c.1595G>A	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917255	0.73098	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T	0.69306	-0.39;-0.39	5.11	5.11	0.69529	.	0.222920	0.36555	N	0.002540	D	0.84275	0.5436	M	0.87097	2.86	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0	D;P;P;D;D	0.72075	0.976;0.791;0.877;0.925;0.911	D	0.87412	0.2376	10	0.87932	D	0	-16.8601	18.1341	0.89612	0.0:1.0:0.0:0.0	.	447;514;312;532;513	P57737-2;B4DFD6;B3KUH7;P57737;B4DKU9	.;.;.;CORO7_HUMAN;.	H	532;447;312	ENSP00000251166:R532H;ENSP00000446221:R312H	ENSP00000251166:R532H	R	-	2	0	CORO7	4351455	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	2.528000	0.45624	2.373000	0.80994	0.561000	0.74099	CGC		0.667	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535	
NF1	4763	broad.mit.edu	37	17	29654677	29654678	+	Frame_Shift_Ins	INS	-	-	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr17:29654677_29654678insC	ENST00000358273.4	+	38	5812_5813	c.5429_5430insC	c.(5428-5433)ctcaccfs	p.T1811fs	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Frame_Shift_Ins_p.T1790fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1811	Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGCACGCCGCTCACCTTCATGC	0.48			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		11	Whole gene deletion(8)|Unknown(3)		soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(5428-5430)CTCfs		neurofibromin isoform 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29654677_29654678insC		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5430dupC	17.37:g.29654678_29654678dupC	ENSP00000351015:p.Thr1811fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Frame_Shift_Ins_p.L1789fs|NF1_uc002hgi.1_Frame_Shift_Ins_p.L822fs|NF1_uc010cso.2_5'UTR	p.L1810fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	38	5762_5763	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1810					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.5429_5430insC	CCDS42292.1																																																																																				0.480	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
RAB11FIP4	84440	broad.mit.edu	37	17	29850999	29850999	+	Missense_Mutation	SNP	C	C	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr17:29850999C>A	ENST00000325874.8	+	9	1347	c.1118C>A	c.(1117-1119)aCa>aAa	p.T373K	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.T271K	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	373	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CAAGAGAACACACAGCTGGTG	0.597																																						uc002hgn.1																			0				skin(1)	1						c.(1117-1119)ACA>AAA		RAB11 family interacting protein 4 (class II)							51.0	43.0	46.0					17																	29850999		2203	4299	6502	SO:0001583	missense	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29850999C>A	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.1118C>A	17.37:g.29850999C>A	ENSP00000312837:p.Thr373Lys					RAB11FIP4_uc002hgo.2_Missense_Mutation_p.T271K	p.T373K	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN			9	1347	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	373			Potential.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Missense_Mutation	SNP	ENST00000325874.8	37	c.1118C>A	CCDS11267.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047209	0.36085	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	T	0.20463	2.07	5.58	3.59	0.41128	.	0.152967	0.64402	D	0.000017	T	0.19208	0.0461	L	0.38531	1.155	0.45025	D	0.998041	B;B	0.28512	0.214;0.047	B;B	0.40329	0.326;0.013	T	0.07927	-1.0747	9	.	.	.	-9.964	6.233	0.20747	0.0:0.7119:0.0:0.2881	.	271;373	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	K	373	ENSP00000312837:T373K	.	T	+	2	0	RAB11FIP4	26875119	0.980000	0.34600	0.848000	0.33437	0.833000	0.47200	2.519000	0.45546	1.343000	0.45638	0.491000	0.48974	ACA		0.597	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932	
ABCA10	10349	broad.mit.edu	37	17	67211983	67211983	+	Silent	SNP	A	A	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr17:67211983A>G	ENST00000269081.4	-	9	1740	c.831T>C	c.(829-831)ccT>ccC	p.P277P	ABCA10_ENST00000416101.2_Silent_p.P277P|ABCA10_ENST00000432313.2_Silent_p.P277P	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	277					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TGAAGGCAAAAGGGCTAAGAA	0.353																																						uc010dfa.1																			0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(829-831)CCT>CCC		ATP-binding cassette, sub-family A, member 10							53.0	54.0	54.0					17																	67211983		2203	4300	6503	SO:0001819	synonymous_variant	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67211983A>G	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.831T>C	17.37:g.67211983A>G						ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_5'Flank|ABCA10_uc010dfc.1_Silent_p.P169P	p.P277P	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			9	1710	-	Breast(10;6.95e-12)		277			Helical; (Potential).		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	37	c.831T>C	CCDS11684.1																																																																																				0.353	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					uc010dln.2																			2	Substitution - Missense(2)		urinary_tract(1)|prostate(1)	skin(3)	3						c.(1519-1521)AAA>GAA		ANKRD26-like family B, member 2							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu					POTEC_uc010xaj.1_RNA	p.K507E	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			10	1973	-			507			Potential.			Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269	
CTAGE1	64693	broad.mit.edu	37	18	19996611	19996611	+	5'Flank	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr18:19996611G>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Silent_p.D388D			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TGATCATTTCGTCTACTTTAG	0.343																																						uc002ktv.1																			0				ovary(1)	1						c.(1162-1164)GAC>GAT		cutaneous T-cell lymphoma-associated antigen 1							70.0	81.0	77.0					18																	19996611		2180	4291	6471	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19996611G>A	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996611G>A	Exception_encountered						p.D388D	NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN			1	1268	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		388			Potential.		B0YIZ3	Silent	SNP	ENST00000525417.1	37	c.1164C>T																																																																																					0.343	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241	
DSC2	1824	broad.mit.edu	37	18	28662997	28662997	+	Missense_Mutation	SNP	T	T	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr18:28662997T>A	ENST00000280904.6	-	8	1415	c.972A>T	c.(970-972)aaA>aaT	p.K324N	DSC2_ENST00000251081.6_Missense_Mutation_p.K324N	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	324	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGTCTTGTACTTTTATTTTCA	0.308																																						uc002kwl.3																			0				ovary(2)|skin(1)	3						c.(970-972)AAA>AAT		desmocollin 2 isoform Dsc2a preproprotein							93.0	89.0	90.0					18																	28662997		2203	4300	6503	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28662997T>A	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.972A>T	18.37:g.28662997T>A	ENSP00000280904:p.Lys324Asn					DSC2_uc002kwk.3_Missense_Mutation_p.K324N	p.K324N	NM_024422	NP_077740	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		8	1426	-			324			Extracellular (Potential).|Cadherin 2.			Missense_Mutation	SNP	ENST00000280904.6	37	c.972A>T	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068897	0.76301	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.61392	0.11;0.11	5.3	4.13	0.48395	Cadherin (5);Cadherin-like (1);	0.000000	0.34268	N	0.004108	T	0.70587	0.3241	M	0.72353	2.195	0.42692	D	0.99358	D;D	0.63046	0.992;0.991	D;P	0.64410	0.925;0.876	T	0.72414	-0.4301	10	0.72032	D	0.01	.	10.0688	0.42319	0.0:0.0809:0.0:0.9191	.	324;324	Q02487;Q02487-2	DSC2_HUMAN;.	N	324;324;90;337	ENSP00000251081:K324N;ENSP00000280904:K324N	ENSP00000251081:K324N	K	-	3	2	DSC2	26916995	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.179000	0.31993	0.856000	0.35383	0.533000	0.62120	AAA		0.308	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949	
CELF4	56853	broad.mit.edu	37	18	34854357	34854357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr18:34854357G>A	ENST00000591282.1	-	6	717	c.718C>T	c.(718-720)Cga>Tga	p.R240*	CELF4_ENST00000591287.1_Nonsense_Mutation_p.R239*|CELF4_ENST00000420428.2_Nonsense_Mutation_p.R240*|CELF4_ENST00000361795.5_Nonsense_Mutation_p.R239*|CELF4_ENST00000603232.1_Nonsense_Mutation_p.R240*|CELF4_ENST00000588597.1_Nonsense_Mutation_p.R229*|CELF4_ENST00000601019.1_Nonsense_Mutation_p.R239*|CELF4_ENST00000334919.5_Nonsense_Mutation_p.R230*|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000412753.1_Nonsense_Mutation_p.R240*|RP11-797E24.3_ENST00000588766.1_RNA			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	240	Necessary for TNNT2 exon 5 inclusion.|Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TGCTGCATTCGCCGCATCGTG	0.667																																						uc002lae.2																			0				ovary(2)	2						c.(718-720)CGA>TGA		bruno-like 4, RNA binding protein isoform 1							103.0	85.0	91.0					18																	34854357		2203	4300	6503	SO:0001587	stop_gained	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34854357G>A	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.718C>T	18.37:g.34854357G>A	ENSP00000464794:p.Arg240*					CELF4_uc010dnd.1_Nonsense_Mutation_p.R239*|CELF4_uc002lag.2_Nonsense_Mutation_p.R230*|CELF4_uc002laf.2_Nonsense_Mutation_p.R235*|CELF4_uc002lai.2_Nonsense_Mutation_p.R225*|CELF4_uc002lah.1_5'Flank|CELF4_uc002laj.1_Missense_Mutation_p.A75V	p.R240*	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN			6	1114	-			240			Sufficient for RNA-binding and MSE- dependent splicing activity.|Necessary for TNNT2 exon 5 inclusion.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Nonsense_Mutation	SNP	ENST00000591282.1	37	c.718C>T	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	G	41	8.796928	0.98958	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919;ENST00000361683	.	.	.	4.55	4.55	0.56014	.	0.059800	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5582	17.4927	0.87709	0.0:0.0:1.0:0.0	.	.	.	.	X	240;240;239;230;123	.	ENSP00000335631:R230X	R	-	1	2	CELF4	33108355	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.454000	0.80714	2.373000	0.80994	0.561000	0.74099	CGA		0.667	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180	
PPAP2C	8612	broad.mit.edu	37	19	288137	288137	+	Silent	SNP	G	G	A	rs555471469	byFrequency	TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:288137G>A	ENST00000269812.3	-	2	136	c.87C>T	c.(85-87)aaC>aaT	p.N29N	PPAP2C_ENST00000327790.3_Silent_p.N50N|PPAP2C_ENST00000434325.2_De_novo_Start_OutOfFrame	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	29					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-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)		TGTACGGGGCGTTCACCAGCG	0.617													g|||	5	0.000998403	0.0	0.0	5008	,	,		13860	0.0		0.0	False		,,,				2504	0.0051					uc002loi.2																			0				central_nervous_system(1)	1						c.(85-87)AAC>AAT		phosphatidic acid phosphatase type 2C isoform 1							127.0	100.0	110.0					19																	288137		2203	4300	6503	SO:0001819	synonymous_variant	8612				sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr19:288137G>A	AF035959	CCDS12023.1, CCDS12024.1, CCDS45889.1	19p13	2009-05-27				ENSG00000141934	3.1.3.4		9230	protein-coding gene	gene with protein product		607126				9570154, 9607309	Standard	NM_177543		Approved	PAP-2c, LPP2	uc002loh.3	O43688		ENST00000269812.3:c.87C>T	19.37:g.288137G>A						PPAP2C_uc002loh.2_Silent_p.N50N|PPAP2C_uc002loj.2_Translation_Start_Site	p.N29N	NM_003712	NP_003703	O43688	LPP2_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	186	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	29					A6NLV0|E9PAY8	Silent	SNP	ENST00000269812.3	37	c.87C>T	CCDS12023.1																																																																																				0.617	PPAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451777.2		
SLC39A3	29985	broad.mit.edu	37	19	2733313	2733313	+	Silent	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:2733313C>T	ENST00000269740.4	-	3	710	c.381G>A	c.(379-381)gtG>gtA	p.V127V	AC006538.4_ENST00000586572.1_Intron|SLC39A3_ENST00000545664.1_Silent_p.V127V	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	127					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		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)		AGTCGCTGCCCACGTCCGATC	0.662																																						uc002lwg.2																			0					0						c.(379-381)GTG>GTA		solute carrier family 39 (zinc transporter),							49.0	49.0	49.0					19																	2733313		2203	4300	6503	SO:0001819	synonymous_variant	29985					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity	g.chr19:2733313C>T	AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"""Solute carriers"""	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.381G>A	19.37:g.2733313C>T						SLC39A3_uc010xgy.1_Silent_p.V127V	p.V127V	NM_144564	NP_653165	Q9BRY0	S39A3_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	635	-		Hepatocellular(1079;0.137)	127			Cytoplasmic (Potential).		B3KMJ3|Q8WUG1	Silent	SNP	ENST00000269740.4	37	c.381G>A	CCDS12093.1																																																																																				0.662	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451354.2		
VAV1	7409	broad.mit.edu	37	19	6854017	6854017	+	Nonsense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:6854017C>T	ENST00000602142.1	+	26	2474	c.2392C>T	c.(2392-2394)Cga>Tga	p.R798*	VAV1_ENST00000596764.1_Nonsense_Mutation_p.R766*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.R701*|VAV1_ENST00000304076.2_Nonsense_Mutation_p.R776*|VAV1_ENST00000599806.1_Nonsense_Mutation_p.R743*	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	798	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CGCCCGAGACCGATCAGAGCT	0.552																																						uc002mfu.1																			0				lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						c.(2392-2394)CGA>TGA		vav 1 guanine nucleotide exchange factor							112.0	101.0	105.0					19																	6854017		2203	4300	6503	SO:0001587	stop_gained	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6854017C>T		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2392C>T	19.37:g.6854017C>T	ENSP00000472929:p.Arg798*					VAV1_uc010xjh.1_Nonsense_Mutation_p.R766*|VAV1_uc010dva.1_Nonsense_Mutation_p.R776*|VAV1_uc002mfv.1_Nonsense_Mutation_p.R743*	p.R798*	NM_005428	NP_005419	P15498	VAV_HUMAN			26	2489	+			798			SH3 2.		B4DVK9|M0QXX6|Q15860	Nonsense_Mutation	SNP	ENST00000602142.1	37	c.2392C>T	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	C	38	6.771013	0.97825	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	.	.	.	4.35	3.29	0.37713	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	9.5902	0.39541	0.3775:0.6225:0.0:0.0	.	.	.	.	X	798;701	.	ENSP00000302269:R798X	R	+	1	2	VAV1	6805017	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	2.231000	0.43009	1.036000	0.39998	0.561000	0.74099	CGA		0.552	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1		
AKAP8L	26993	broad.mit.edu	37	19	15510183	15510183	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:15510183G>A	ENST00000397410.5	-	9	1217	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	AKAP8L_ENST00000595879.1_5'UTR|AKAP8L_ENST00000595465.2_Missense_Mutation_p.R302C	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	363						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGCAACTTGCGCTTGGTCTGG	0.602																																						uc002naw.1																			0				ovary(1)	1						c.(1087-1089)CGC>TGC		A kinase (PRKA) anchor protein 8-like							166.0	164.0	165.0					19																	15510183		2105	4225	6330	SO:0001583	missense	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15510183G>A	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1087C>T	19.37:g.15510183G>A	ENSP00000380557:p.Arg363Cys					AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Missense_Mutation_p.R302C	p.R363C	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN			9	1186	-			363			Nuclear localization signal (Potential).		B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	c.1087C>T	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.909315	0.52439	.	.	ENSG00000011243	ENST00000397410	T	0.52754	0.65	5.43	5.43	0.79202	.	0.436418	0.23750	N	0.044926	T	0.43964	0.1271	N	0.22421	0.69	0.34313	D	0.685646	D;D	0.69078	0.997;0.997	P;P	0.50754	0.649;0.556	T	0.59134	-0.7511	10	0.66056	D	0.02	-9.587	13.0419	0.58904	0.0:0.0:0.8388:0.1612	.	302;363	B4DJ74;Q9ULX6	.;AKP8L_HUMAN	C	363	ENSP00000380557:R363C	ENSP00000380557:R363C	R	-	1	0	AKAP8L	15371183	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.551000	0.53698	2.560000	0.86352	0.561000	0.74099	CGC		0.602	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371	
CPAMD8	27151	broad.mit.edu	37	19	17014389	17014389	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:17014389G>A	ENST00000443236.1	-	34	4624	c.4593C>T	c.(4591-4593)gaC>gaT	p.D1531D		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1484						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGCAGCAGCCGTCCCCCTTGG	0.617																																						uc002nfb.2																			0				ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(4591-4593)GAC>GAT		C3 and PZP-like, alpha-2-macroglobulin domain							84.0	102.0	96.0					19																	17014389		2045	4184	6229	SO:0001819	synonymous_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17014389G>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4593C>T	19.37:g.17014389G>A						CPAMD8_uc002nfd.1_Translation_Start_Site	p.D1531D	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			34	4625	-			1484					Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	c.4593C>T	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	7.474	0.647361	0.14516	.	.	ENSG00000160111	ENST00000443236	.	.	.	3.32	-0.26	0.12967	.	.	.	.	.	T	0.42086	0.1187	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20273	-1.0280	4	.	.	.	.	2.2288	0.03991	0.1367:0.0974:0.1898:0.5761	.	.	.	.	M	1542	.	.	T	-	2	0	CPAMD8	16875389	1.000000	0.71417	0.906000	0.35671	0.984000	0.73092	1.366000	0.34193	-0.417000	0.07461	-0.464000	0.05259	ACG		0.617	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	
SLC25A42	284439	broad.mit.edu	37	19	19206999	19206999	+	Silent	SNP	G	G	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:19206999G>T	ENST00000318596.7	+	2	217	c.66G>T	c.(64-66)tcG>tcT	p.S22S		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	22					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TCCTGTCCTCGTCCGTCTCAT	0.647																																						uc002nlf.1																			0					0						c.(64-66)TCG>TCT		solute carrier family 25, member 42							191.0	152.0	165.0					19																	19206999		2203	4300	6503	SO:0001819	synonymous_variant	284439				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:19206999G>T		CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"""Solute carriers"""	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.66G>T	19.37:g.19206999G>T						SLC25A42_uc010xqn.1_Silent_p.S74S	p.S22S	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)		2	217	+			22					D2T2J5|O14553|O43378	Silent	SNP	ENST00000318596.7	37	c.66G>T	CCDS32966.1																																																																																				0.647	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1	NM_178526	
MEGF8	1954	broad.mit.edu	37	19	42841352	42841352	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:42841352C>T	ENST00000251268.6	+	8	1507	c.1507C>T	c.(1507-1509)Cct>Tct	p.P503S	MEGF8_ENST00000334370.4_Missense_Mutation_p.P503S	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	503					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCCAGGAACCCCTGAGGGTGA	0.572																																						uc002otl.3																			0				ovary(1)	1						c.(1507-1509)CCT>TCT		multiple EGF-like-domains 8							69.0	67.0	67.0					19																	42841352		2203	4300	6503	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42841352C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.1507C>T	19.37:g.42841352C>T	ENSP00000251268:p.Pro503Ser					MEGF8_uc002otm.3_Missense_Mutation_p.P44S	p.P503S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			8	2142	+		Prostate(69;0.00682)	503			Extracellular (Potential).|Kelch 5.		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.1507C>T		.	.	.	.	.	.	.	.	.	.	C	3.591	-0.083585	0.07141	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21031	2.03;2.03	4.42	4.42	0.53409	.	0.424789	0.20260	N	0.095897	T	0.14874	0.0359	N	0.00483	-1.445	0.80722	D	1	P;D	0.61697	0.915;0.99	B;D	0.70016	0.3;0.967	T	0.51980	-0.8636	10	0.36615	T	0.2	-3.0638	12.4601	0.55727	0.0:1.0:0.0:0.0	.	503;503	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	S	503	ENSP00000334219:P503S;ENSP00000251268:P503S	ENSP00000251268:P503S	P	+	1	0	MEGF8	47533192	0.462000	0.25791	0.994000	0.49952	0.141000	0.21300	2.270000	0.43355	2.317000	0.78254	0.505000	0.49811	CCT		0.572	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	
ETHE1	23474	broad.mit.edu	37	19	44015698	44015698	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:44015698G>A	ENST00000292147.2	-	4	462	c.396C>T	c.(394-396)agC>agT	p.S132S	ETHE1_ENST00000600651.1_Silent_p.S132S	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	132					cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				TGTGGCCAGGGCTGGCCCTGG	0.602																																						uc002owp.2																			0					0						c.(394-396)AGC>AGT		ETHE1 protein precursor							60.0	51.0	54.0					19																	44015698		2203	4300	6503	SO:0001819	synonymous_variant	23474					mitochondrial matrix|nucleus	hydrolase activity|metal ion binding	g.chr19:44015698G>A		CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.396C>T	19.37:g.44015698G>A						ETHE1_uc010eiu.1_Silent_p.S132S	p.S132S	NM_014297	NP_055112	O95571	ETHE1_HUMAN			4	463	-		Prostate(69;0.0153)	132					Q96HR0|Q9H001	Silent	SNP	ENST00000292147.2	37	c.396C>T	CCDS12622.1																																																																																				0.602	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463184.1	NM_014297	
GPR32	2854	broad.mit.edu	37	19	51274617	51274617	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:51274617C>T	ENST00000270590.4	+	1	897	c.760C>T	c.(760-762)Ccc>Tcc	p.P254S		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	254					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGCCAACCGGCCCAAGAGGCT	0.612																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	uc010ycf.1																			0				upper_aerodigestive_tract(1)	1						c.(760-762)CCC>TCC		G protein-coupled receptor 32							52.0	57.0	56.0					19																	51274617		2203	4300	6503	SO:0001583	missense	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274617C>T	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.760C>T	19.37:g.51274617C>T	ENSP00000270590:p.Pro254Ser						p.P254S	NM_001506	NP_001497	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	760	+		all_neural(266;0.131)	254			Cytoplasmic (Potential).		Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	c.760C>T	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214753	0.39102	.	.	ENSG00000142511	ENST00000270590	T	0.35973	1.28	2.56	1.4	0.22301	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.50548	0.1622	L	0.60904	1.88	0.28459	N	0.915978	D	0.71674	0.998	D	0.70935	0.971	T	0.39542	-0.9609	9	0.66056	D	0.02	.	8.0486	0.30564	0.0:0.857:0.0:0.143	.	254	O75388	GPR32_HUMAN	S	254	ENSP00000270590:P254S	ENSP00000270590:P254S	P	+	1	0	GPR32	55966429	0.012000	0.17670	0.002000	0.10522	0.688000	0.40055	1.025000	0.30090	0.310000	0.22990	0.313000	0.20887	CCC		0.612	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1		
KLK8	11202	broad.mit.edu	37	19	51503469	51503469	+	Silent	SNP	A	A	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:51503469A>G	ENST00000600767.1	-	5	765	c.276T>C	c.(274-276)gaT>gaC	p.D92D	KLK8_ENST00000291726.7_Silent_p.D92D|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000598195.1_5'Flank|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000391806.2_Silent_p.D137D|KLK8_ENST00000320838.5_Intron			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	92	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GCTCTGGGCCATCTTTATTCT	0.537																																						uc002pur.1																			0				central_nervous_system(1)	1						c.(274-276)GAT>GAC		kallikrein 8 isoform 1 preproprotein							223.0	216.0	218.0					19																	51503469		2203	4300	6503	SO:0001819	synonymous_variant	11202				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51503469A>G	AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6369	protein-coding gene	gene with protein product		605644	"""kallikrein 8 (neuropsin/ovasin)"""	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.276T>C	19.37:g.51503469A>G						KLK8_uc002puq.1_Silent_p.D137D|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Silent_p.D92D|KLK9_uc002puv.1_Intron	p.D92D	NM_007196	NP_009127	O60259	KLK8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)	4	455	-		all_neural(266;0.026)	92			Peptidase S1.		Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Silent	SNP	ENST00000600767.1	37	c.276T>C	CCDS12813.1																																																																																				0.537	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465032.2	NM_007196	
LILRA6	79168	broad.mit.edu	37	19	54744862	54744862	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:54744862C>T	ENST00000396365.2	-	5	839	c.800G>A	c.(799-801)cGc>cAc	p.R267H	LILRA6_ENST00000245621.5_Missense_Mutation_p.R267H|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000440558.2_Missense_Mutation_p.R267H|LILRA6_ENST00000419410.2_Missense_Mutation_p.R267H|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000270464.5_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	267	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.R267L(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGGCCAGGGCGCTGGAGGAA	0.647																																						uc002qeu.1																			1	Substitution - Missense(1)		central_nervous_system(1)	skin(2)	2						c.(799-801)CGC>CAC		leukocyte immunoglobulin-like receptor,							55.0	64.0	61.0					19																	54744862		2203	4298	6501	SO:0001583	missense	79168					integral to membrane	receptor activity	g.chr19:54744862C>T	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.800G>A	19.37:g.54744862C>T	ENSP00000379651:p.Arg267His					LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Missense_Mutation_p.R267H|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Missense_Mutation_p.R267H|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.R267H|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.R267H|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Missense_Mutation_p.R267H|LILRA6_uc010yeq.1_Missense_Mutation_p.R267H|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.R128H	p.R267H	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	924	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		267			Extracellular (Potential).|Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000396365.2	37	c.800G>A	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	A	4.898	0.166835	0.09339	.	.	ENSG00000244482	ENST00000440558;ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T	0.00753	5.74;5.74;5.74;5.74	2.39	-4.79	0.03200	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.113440	0.02161	N	0.058782	T	0.00637	0.0021	L	0.31420	0.93	0.09310	N	1	B;P;B;B	0.41131	0.242;0.739;0.102;0.242	B;B;B;B	0.38428	0.226;0.273;0.035;0.222	T	0.44682	-0.9312	10	0.19147	T	0.46	.	0.4234	0.00460	0.2768:0.1818:0.1381:0.4033	.	267;267;267;267	C9JFH3;Q6PI73;F8WCY4;D3YTC4	.;LIRA6_HUMAN;.;.	H	267	ENSP00000390120:R267H;ENSP00000411227:R267H;ENSP00000379651:R267H;ENSP00000245621:R267H	ENSP00000245621:R267H	R	-	2	0	LILRA6	59436674	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-4.811000	0.00183	-2.444000	0.00548	-1.123000	0.02005	CGC		0.647	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318	
KIR3DL2	3812	broad.mit.edu	37	19	55377847	55377847	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:55377847G>A	ENST00000326321.3	+	8	1161	c.1128G>A	c.(1126-1128)gaG>gaA	p.E376E	KIR3DL1_ENST00000402254.2_Silent_p.E376E|KIR3DL2_ENST00000270442.5_Silent_p.E359E|RNU6-222P_ENST00000362438.1_RNA	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	376					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TGGACCAAGAGCCTGCGGGGG	0.542																																						uc002qhl.3																			0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5						c.(1126-1128)GAG>GAA		SubName: Full=KIR3DS1;							135.0	137.0	136.0					19																	55377847		2203	4300	6503	SO:0001819	synonymous_variant	3811				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	g.chr19:55377847G>A	L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.1128G>A	19.37:g.55377847G>A						KIR3DL2_uc010esh.2_Silent_p.E359E|KIR3DL2_uc002qho.3_Silent_p.E376E	p.E376E			P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	8	1191	+			376			Cytoplasmic (Potential).		Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Silent	SNP	ENST00000326321.3	37	c.1128G>A	CCDS12906.1																																																																																				0.542	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1		
NLRP11	204801	broad.mit.edu	37	19	56313012	56313012	+	Silent	SNP	C	C	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:56313012C>G	ENST00000589093.1	-	5	2190	c.2097G>C	c.(2095-2097)acG>acC	p.T699T	NLRP11_ENST00000360133.3_Silent_p.T645T|NLRP11_ENST00000443188.1_Silent_p.T699T|NLRP11_ENST00000592953.1_Silent_p.T600T|NLRP11_ENST00000589824.2_Silent_p.T645T			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	699							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GGGAAATGGACGTACAGTTGA	0.468																																						uc010ygf.1																			0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(2095-2097)ACG>ACC		NLR family, pyrin domain containing 11							162.0	140.0	147.0					19																	56313012		2203	4300	6503	SO:0001819	synonymous_variant	204801						ATP binding	g.chr19:56313012C>G	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2097G>C	19.37:g.56313012C>G						NLRP11_uc002qlz.2_Silent_p.T546T|NLRP11_uc002qmb.2_Silent_p.T600T|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	p.T699T	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	7	2808	-		Colorectal(82;0.0002)	699					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	ENST00000589093.1	37	c.2097G>C	CCDS12935.1																																																																																				0.468	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007	
NLRP13	126204	broad.mit.edu	37	19	56407321	56407321	+	Missense_Mutation	SNP	T	T	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:56407321T>A	ENST00000342929.3	-	11	3121	c.3122A>T	c.(3121-3123)aAa>aTa	p.K1041I	NLRP13_ENST00000588751.1_Intron	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	1041				KALKKSTCRLQKLG -> FKKTCTM (in Ref. 2; DAA01241). {ECO:0000305}.			ATP binding (GO:0005524)	p.K1041R(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTACCCGAGTTTCTGCAGCCT	0.458																																						uc010ygg.1																			1	Substitution - Missense(1)		central_nervous_system(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(3121-3123)AAA>ATA		NACHT, leucine rich repeat and PYD containing							216.0	196.0	203.0					19																	56407321		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56407321T>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.3122A>T	19.37:g.56407321T>A	ENSP00000343891:p.Lys1041Ile						p.K1041I	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	11	3147	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	1041	KALKKSTCRLQKLG -> FKKTCTM (in Ref. 2; DAA01241).				Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.3122A>T	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	T	5.197	0.221839	0.09863	.	.	ENSG00000173572	ENST00000342929	T	0.52754	0.65	2.85	-1.22	0.09494	.	.	.	.	.	T	0.35451	0.0932	L	0.35249	1.045	0.09310	N	1	P	0.37997	0.614	B	0.43386	0.418	T	0.25710	-1.0124	9	0.32370	T	0.25	.	4.1527	0.10245	0.203:0.0:0.4157:0.3813	.	1041	Q86W25	NAL13_HUMAN	I	1041	ENSP00000343891:K1041I	ENSP00000343891:K1041I	K	-	2	0	NLRP13	61099133	0.165000	0.22948	0.000000	0.03702	0.042000	0.13812	-0.162000	0.10012	-0.512000	0.06505	0.482000	0.46254	AAA		0.458	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810	
ZSCAN22	342945	broad.mit.edu	37	19	58850663	58850663	+	Frame_Shift_Del	DEL	T	T	-			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:58850663delT	ENST00000329665.4	+	3	1594	c.1447delT	c.(1447-1449)ttgfs	p.L483fs		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	483					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GATGGTTCACTTGCGGATCCA	0.577																																						uc002qsc.2																			0				pancreas(1)	1						c.(1447-1449)TTGfs		zinc finger and SCAN domain containing 22							61.0	53.0	56.0					19																	58850663		2203	4300	6503	SO:0001589	frameshift_variant	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58850663delT	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.1447delT	19.37:g.58850663delT	ENSP00000332433:p.Leu483fs					ZSCAN22_uc010yhz.1_3'UTR	p.L483fs	NM_181846	NP_862829	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	3	1594	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	483			C2H2-type 8.		Q15922|Q7Z3L8	Frame_Shift_Del	DEL	ENST00000329665.4	37	c.1447delT	CCDS12975.1																																																																																				0.577	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846	
SOS1	6654	broad.mit.edu	37	2	39250170	39250170	+	Missense_Mutation	SNP	A	A	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:39250170A>C	ENST00000426016.1	-	11	1485	c.1399T>G	c.(1399-1401)Tta>Gta	p.L467V	SOS1_ENST00000395038.2_Missense_Mutation_p.L467V|SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000402219.2_Missense_Mutation_p.L467V			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	467	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CAAATCATTAAGCCATCAAAG	0.378									Noonan syndrome																													uc002rrk.3																			0				ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10						c.(1399-1401)TTA>GTA		son of sevenless homolog 1							102.0	98.0	99.0					2																	39250170		2203	4300	6503	SO:0001583	missense	6654	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39250170A>C	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1399T>G	2.37:g.39250170A>C	ENSP00000387784:p.Leu467Val					SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_Missense_Mutation_p.L81V|SOS1_uc002rrl.2_Missense_Mutation_p.L199V	p.L467V	NM_005633	NP_005624	Q07889	SOS1_HUMAN			10	1440	-		all_hematologic(82;0.21)	467			PH.		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.1399T>G	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.699998	0.48307	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.73897	-0.79;-0.79;-0.79	5.28	5.28	0.74379	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000001	T	0.80864	0.4705	M	0.71581	2.175	0.80722	D	1	P;P	0.52842	0.869;0.956	P;P	0.56563	0.505;0.801	T	0.81812	-0.0761	10	0.51188	T	0.08	.	10.7017	0.45931	0.925:0.0:0.075:0.0	.	199;467	F5GX06;Q07889	.;SOS1_HUMAN	V	467;467;199;467;467	ENSP00000387784:L467V;ENSP00000384675:L467V;ENSP00000378479:L467V	ENSP00000263879:L467V	L	-	1	2	SOS1	39103674	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.192000	0.42649	2.131000	0.65755	0.455000	0.32223	TTA		0.378	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633	
TGFA	7039	broad.mit.edu	37	2	70742023	70742023	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:70742023T>C	ENST00000295400.6	-	2	309	c.62A>G	c.(61-63)cAg>cGg	p.Q21R	TGFA_ENST00000444975.1_Missense_Mutation_p.Q27R|TGFA_ENST00000460808.1_5'UTR|TGFA_ENST00000418333.2_Missense_Mutation_p.Q21R|TGFA_ENST00000450929.1_Missense_Mutation_p.Q27R|TGFA_ENST00000445399.1_Missense_Mutation_p.Q21R	NM_001099691.2|NM_003236.3	NP_001093161.1|NP_003227.1	P01135	TGFA_HUMAN	transforming growth factor, alpha	21					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|mammary gland alveolus development (GO:0060749)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell division (GO:0051781)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mitosis (GO:0045840)|response to drug (GO:0042493)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|MAP kinase kinase activity (GO:0004708)			haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						CTCCAAGGCCTGGCACGCAGC	0.607																																						uc002sgs.3																			0				prostate(1)	1						c.(61-63)CAG>CGG		transforming growth factor, alpha isoform 1							78.0	67.0	71.0					2																	70742023		2203	4300	6503	SO:0001583	missense	7039				activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity	g.chr2:70742023T>C		CCDS1905.1, CCDS46316.1	2p13	2012-10-02			ENSG00000163235	ENSG00000163235			11765	protein-coding gene	gene with protein product		190170				3459638, 10552925	Standard	NM_003236		Approved		uc002sgs.4	P01135	OTTHUMG00000129669	ENST00000295400.6:c.62A>G	2.37:g.70742023T>C	ENSP00000295400:p.Gln21Arg					TGFA_uc010fdq.2_Missense_Mutation_p.Q27R|TGFA_uc010fdr.2_Missense_Mutation_p.Q27R|TGFA_uc002sgt.3_Missense_Mutation_p.Q21R|TGFA_uc002sgu.2_Missense_Mutation_p.Q21R|TGFA_uc002sgv.2_Missense_Mutation_p.Q21R|TGFA_uc002sgw.2_Missense_Mutation_p.Q21R	p.Q21R	NM_003236	NP_003227	P01135	TGFA_HUMAN			2	268	-			21					A8K286|Q15577|Q53SK7|Q9BS56|Q9UEI3|Q9UKM1|Q9UKM2|Q9UKM3	Missense_Mutation	SNP	ENST00000295400.6	37	c.62A>G	CCDS1905.1	.	.	.	.	.	.	.	.	.	.	T	16.18	3.051610	0.55218	.	.	ENSG00000163235	ENST00000295400;ENST00000445399;ENST00000418333;ENST00000450929;ENST00000444975;ENST00000394241	T;T;T;T;T;T	0.18810	2.52;2.23;2.23;2.2;2.19;2.24	5.14	5.14	0.70334	.	0.085567	0.50627	D	0.000112	T	0.35508	0.0934	L	0.47716	1.5	0.30030	N	0.813544	D;D;D;D;P;P;P	0.57899	0.981;0.981;0.981;0.981;0.908;0.908;0.908	D;D;D;D;P;P;P	0.70487	0.969;0.969;0.969;0.969;0.888;0.888;0.888	T	0.13522	-1.0506	10	0.30078	T	0.28	.	11.5282	0.50593	0.0:0.0:0.0:1.0	.	27;27;21;21;21;21;21	E7EPT6;F8VNR3;P01135-5;Q9UKM3;P01135-3;P01135-2;P01135	.;.;.;.;.;.;TGFA_HUMAN	R	21;21;21;27;27;21	ENSP00000295400:Q21R;ENSP00000387493:Q21R;ENSP00000404099:Q21R;ENSP00000414127:Q27R;ENSP00000404131:Q27R;ENSP00000377787:Q21R	ENSP00000295400:Q21R	Q	-	2	0	TGFA	70595531	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	3.692000	0.54727	2.288000	0.76882	0.533000	0.62120	CAG		0.607	TGFA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251870.2		
ZNF638	27332	broad.mit.edu	37	2	71576267	71576267	+	Silent	SNP	T	T	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:71576267T>C	ENST00000409544.1	+	2	813	c.183T>C	c.(181-183)taT>taC	p.Y61Y	ZNF638_ENST00000377802.2_Silent_p.Y61Y|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Silent_p.Y61Y|ZNF638_ENST00000355812.3_Silent_p.Y61Y	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	61					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ATGAATCTTATCAGAACATGG	0.448																																						uc002shx.2																			0				pancreas(2)|ovary(1)|skin(1)	4						c.(181-183)TAT>TAC		zinc finger protein 638							107.0	106.0	107.0					2																	71576267		2203	4300	6503	SO:0001819	synonymous_variant	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71576267T>C	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.183T>C	2.37:g.71576267T>C						ZNF638_uc010fec.2_Silent_p.Y167Y|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Silent_p.Y61Y|ZNF638_uc002shy.2_Silent_p.Y61Y|ZNF638_uc002shz.2_Silent_p.Y61Y|ZNF638_uc002sia.2_Silent_p.Y61Y|ZNF638_uc002sib.1_Silent_p.Y61Y	p.Y61Y	NM_014497	NP_055312	Q14966	ZN638_HUMAN			2	502	+			61					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Silent	SNP	ENST00000409544.1	37	c.183T>C	CCDS1917.1																																																																																				0.448	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497	
TTC30A	92104	broad.mit.edu	37	2	178481798	178481798	+	Silent	SNP	G	G	A	rs150534803		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:178481798G>A	ENST00000355689.5	-	1	1896	c.1632C>T	c.(1630-1632)tgC>tgT	p.C544C	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	544					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			AATTCACAATGCAGAGATGGT	0.383																																						uc002ulo.2																			0					0						c.(1630-1632)TGC>TGT		tetratricopeptide repeat domain 30A		G		0,4406		0,0,2203	212.0	226.0	221.0		1632	4.1	1.0	2	dbSNP_134	221	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TTC30A	NM_152275.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		544/666	178481798	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92104				cell projection organization	cilium	binding	g.chr2:178481798G>A	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.1632C>T	2.37:g.178481798G>A							p.C544C	NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	1897	-			544			TPR 8.		A8K8N0|Q8IVP2	Silent	SNP	ENST00000355689.5	37	c.1632C>T	CCDS2276.1																																																																																				0.383	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275	
TTN	7273	broad.mit.edu	37	2	179417389	179417389	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:179417389C>T	ENST00000591111.1	-	285	85539	c.85315G>A	c.(85315-85317)Gct>Act	p.A28439T	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A27512T|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A30080T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A21140T|TTN_ENST00000460472.2_Missense_Mutation_p.A21015T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A21207T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28439	Fibronectin type-III 107. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTATGCCAGCGTGGGACCAC	0.453																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(82534-82536)GCT>ACT		titin isoform N2-A							110.0	101.0	104.0					2																	179417389		2035	4171	6206	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179417389C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.85315G>A	2.37:g.179417389C>T	ENSP00000465570:p.Ala28439Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A21207T|TTN_uc010zfi.1_Missense_Mutation_p.A21140T|TTN_uc010zfj.1_Missense_Mutation_p.A21015T	p.A27512T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		284	82758	-			28439					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.82534G>A		.	.	.	.	.	.	.	.	.	.	C	18.29	3.590996	0.66219	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.76	5.76	0.90799	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70789	0.3264	L	0.56396	1.775	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.69479	0.964;0.964;0.964;0.964	T	0.71119	-0.4685	9	0.87932	D	0	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	21015;21140;21207;28439	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	27512;21015;21207;21140;21012	ENSP00000343764:A27512T;ENSP00000434586:A21015T;ENSP00000340554:A21207T;ENSP00000352154:A21140T	ENSP00000340554:A21207T	A	-	1	0	TTN	179125635	1.000000	0.71417	0.981000	0.43875	0.689000	0.40095	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	GCT		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179448529	179448529	+	Missense_Mutation	SNP	C	C	T	rs373848128		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:179448529C>T	ENST00000591111.1	-	262	60681	c.60457G>A	c.(60457-60459)Gta>Ata	p.V20153I	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V19226I|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V21794I|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V12854I|TTN_ENST00000460472.2_Missense_Mutation_p.V12729I|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V12921I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20153	Fibronectin type-III 46. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGCTTCTACGAAATAGCCA	0.463																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(57676-57678)GTA>ATA		titin isoform N2-A							60.0	58.0	59.0					2																	179448529		1904	4113	6017	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179448529C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.60457G>A	2.37:g.179448529C>T	ENSP00000465570:p.Val20153Ile					uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V12921I|TTN_uc010zfi.1_Missense_Mutation_p.V12854I|TTN_uc010zfj.1_Missense_Mutation_p.V12729I	p.V19226I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		261	57900	-			20153					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.57676G>A		.	.	.	.	.	.	.	.	.	.	C	10.64	1.407189	0.25378	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	6.11	1.31	0.21738	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39708	0.1088	N	0.17474	0.49	0.43149	D	0.994918	B;B;B;B	0.22800	0.075;0.075;0.075;0.044	B;B;B;B	0.17433	0.018;0.018;0.018;0.012	T	0.20075	-1.0286	9	0.87932	D	0	.	11.0877	0.48097	0.0:0.7027:0.0:0.2973	.	12729;12854;12921;20153	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	19226;12729;12921;12854;12727	ENSP00000343764:V19226I;ENSP00000434586:V12729I;ENSP00000340554:V12921I;ENSP00000352154:V12854I	ENSP00000340554:V12921I	V	-	1	0	TTN	179156775	0.647000	0.27304	0.168000	0.22838	0.405000	0.30901	1.369000	0.34227	-0.036000	0.13669	-0.794000	0.03295	GTA		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179515501	179515501	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:179515501C>G	ENST00000591111.1	-	164	35389	c.35165G>C	c.(35164-35166)aGa>aCa	p.R11722T	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R10795T|TTN_ENST00000589042.1_Missense_Mutation_p.R13229T|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11722	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGACTCCGCTCTTTCTGGAAC	0.423																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(32383-32385)AGA>ACA		titin isoform N2-A							49.0	54.0	52.0					2																	179515501		1897	4096	5993	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179515501C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35165G>C	2.37:g.179515501C>G	ENSP00000465570:p.Arg11722Thr					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_RNA|TTN_uc002umx.1_5'UTR	p.R10795T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		163	32608	-			11722					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.32384G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.90|11.90	1.776783|1.776783	0.31411|0.31411	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000426232|ENST00000342992;ENST00000429997;ENST00000446966;ENST00000434777	.|T;T	.|0.65549	.|-0.16;-0.16	4.91|4.91	1.07|1.07	0.20283|0.20283	.|Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.|.	.|.	.|.	.|.	T|T	0.37732|0.37732	0.1014|0.1014	N|N	0.08118|0.08118	0|0	0.53005|0.53005	D|D	0.999969|0.999969	.|B	.|0.12013	.|0.005	.|B	.|0.16722	.|0.016	T|T	0.10636|0.10636	-1.0621|-1.0621	5|9	.|0.87932	.|D	.|0	.|.	6.1898|6.1898	0.20518|0.20518	0.0:0.1391:0.1348:0.7261|0.0:0.1391:0.1348:0.7261	.|.	.|11722	.|Q8WZ42	.|TITIN_HUMAN	N|T	69|10795;68;68;22	.|ENSP00000343764:R10795T;ENSP00000408004:R68T	.|ENSP00000343764:R10795T	K|R	-|-	3|2	2|0	TTN|TTN	179223746|179223746	0.013000|0.013000	0.17824|0.17824	0.019000|0.019000	0.16419|0.16419	0.015000|0.015000	0.08874|0.08874	0.150000|0.150000	0.16263|0.16263	0.003000|0.003000	0.14656|0.14656	-0.793000|-0.793000	0.03317|0.03317	AAG|AGA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
NYAP2	57624	broad.mit.edu	37	2	226446762	226446762	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:226446762C>T	ENST00000272907.6	+	4	1042	c.629C>T	c.(628-630)aCg>aTg	p.T210M	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	210					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TTCGATGAAACGTACATCAAA	0.577																																						uc002voe.2																			0				ovary(2)|central_nervous_system(1)	3						c.(628-630)ACG>ATG		hypothetical protein LOC57624							128.0	133.0	131.0					2																	226446762		1933	4131	6064	SO:0001583	missense	57624							g.chr2:226446762C>T	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.629C>T	2.37:g.226446762C>T	ENSP00000272907:p.Thr210Met					KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Translation_Start_Site	p.T210M	NM_020864	NP_065915	Q9P242	K1486_HUMAN		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	4	804	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	210					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.629C>T	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144753	0.77888	.	.	ENSG00000144460	ENST00000272907	T	0.44482	0.92	5.9	5.9	0.94986	.	0.063724	0.64402	D	0.000005	T	0.66096	0.2755	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65146	-0.6239	10	0.62326	D	0.03	-22.9858	20.3541	0.98825	0.0:1.0:0.0:0.0	.	210	Q9P242	K1486_HUMAN	M	210	ENSP00000272907:T210M	ENSP00000272907:T210M	T	+	2	0	KIAA1486	226155006	1.000000	0.71417	0.955000	0.39395	0.894000	0.52154	5.772000	0.68889	2.816000	0.96949	0.644000	0.83932	ACG		0.577	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	
UGT1A4	54657	broad.mit.edu	37	2	234628246	234628246	+	Silent	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:234628246C>T	ENST00000373409.3	+	1	823	c.780C>T	c.(778-780)gaC>gaT	p.D260D	UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000406651.1_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	260					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	TCCGAGGGGACTTTGTGATGG	0.527																																					Melanoma(99;1011 1962 13201 26492)	uc002vux.2																			0				skin(1)	1						c.(778-780)GAC>GAT		UDP glycosyltransferase 1 family, polypeptide A4	Imipramine(DB00458)|Lamotrigine(DB00555)|Paricalcitol(DB00910)|Trifluoperazine(DB00831)						200.0	199.0	200.0					2																	234628246		2203	4300	6503	SO:0001819	synonymous_variant	54657				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr2:234628246C>T	M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"""UDP glucuronosyltransferases"""	12536	other	complex locus constituent		606429	"""UDP glycosyltransferase 1 family, polypeptide A4"""			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.780C>T	2.37:g.234628246C>T						UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Silent_p.D260D	p.D260D	NM_007120	NP_009051	P22310	UD14_HUMAN		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	1	809	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)	260					B2R937|B8K288|Q5DT00	Silent	SNP	ENST00000373409.3	37	c.780C>T	CCDS33405.1																																																																																				0.527	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120	
TATDN2	9797	broad.mit.edu	37	3	10302000	10302000	+	Silent	SNP	G	G	A	rs376639930		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:10302000G>A	ENST00000287652.4	+	3	1645	c.594G>A	c.(592-594)tcG>tcA	p.S198S	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Silent_p.S198S	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	198					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						TGGGGAAATCGATGCCAAAAA	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18088	0.0		0.001	False		,,,				2504	0.0					uc003bvg.2																			0				pancreas(2)	2						c.(592-594)TCG>TCA		TatD DNase domain containing 2		G		0,4406		0,0,2203	51.0	53.0	52.0		594	-9.9	0.0	3		52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TATDN2	NM_014760.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		198/762	10302000	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10302000G>A	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.594G>A	3.37:g.10302000G>A						TATDN2_uc003bvf.2_Silent_p.S198S|TATDN2_uc011atr.1_Silent_p.S198S|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA	p.S198S	NM_014760	NP_055575	Q93075	TATD2_HUMAN			3	1175	+			198					Q3MIL9|Q5BKU0	Silent	SNP	ENST00000287652.4	37	c.594G>A	CCDS33698.1																																																																																				0.557	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203	
BSN	8927	broad.mit.edu	37	3	49694511	49694511	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:49694511G>A	ENST00000296452.4	+	5	7636	c.7522G>A	c.(7522-7524)Gca>Aca	p.A2508T		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2508					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTTACACATGCAGCCTTCAT	0.642																																						uc003cxe.3																			0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(7522-7524)GCA>ACA		bassoon protein							39.0	41.0	40.0					3																	49694511		2202	4297	6499	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49694511G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.7522G>A	3.37:g.49694511G>A	ENSP00000296452:p.Ala2508Thr						p.A2508T	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	7636	+			2508					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.7522G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	0.071	-1.201935	0.01581	.	.	ENSG00000164061	ENST00000296452	T	0.18016	2.24	4.19	-6.95	0.01628	.	1.012920	0.07910	N	0.974130	T	0.09555	0.0235	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44590	-0.9318	10	0.10377	T	0.69	0.6422	13.8655	0.63585	0.7981:0.0:0.2019:0.0	.	2508	Q9UPA5	BSN_HUMAN	T	2508	ENSP00000296452:A2508T	ENSP00000296452:A2508T	A	+	1	0	BSN	49669515	0.000000	0.05858	0.008000	0.14137	0.138000	0.21146	-0.778000	0.04664	-1.663000	0.01481	-0.367000	0.07326	GCA		0.642	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458	
RBM6	10180	broad.mit.edu	37	3	50099537	50099537	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:50099537C>T	ENST00000266022.4	+	15	2841	c.2582C>T	c.(2581-2583)aCg>aTg	p.T861M	RBM6_ENST00000442092.1_Missense_Mutation_p.T339M|RBM6_ENST00000539992.1_Missense_Mutation_p.T203M|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_Missense_Mutation_p.T339M|RBM6_ENST00000443081.1_Missense_Mutation_p.T729M	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	861					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGAGGAGTGACGAGGGTAAGA	0.378																																						uc003cyc.2																			0				ovary(2)	2						c.(2581-2583)ACG>ATG		RNA binding motif protein 6							100.0	102.0	102.0					3																	50099537		2203	4300	6503	SO:0001583	missense	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50099537C>T	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.2582C>T	3.37:g.50099537C>T	ENSP00000266022:p.Thr861Met					RBM6_uc010hlc.1_Missense_Mutation_p.T380M|RBM6_uc003cyd.2_Missense_Mutation_p.T339M|RBM6_uc003cye.2_Missense_Mutation_p.T339M|RBM6_uc011bdi.1_Missense_Mutation_p.T203M|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	p.T861M	NM_005777	NP_005768	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	15	2715	+			861					O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	c.2582C>T	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461544	0.63513	.	.	ENSG00000004534	ENST00000442092;ENST00000266022;ENST00000443081;ENST00000539992;ENST00000422955;ENST00000438912	T;T;T;T;T	0.47528	0.84;1.41;1.41;0.86;0.84	5.03	5.03	0.67393	.	0.999489	0.08099	N	0.998065	T	0.43700	0.1259	L	0.34521	1.04	0.09310	N	0.999999	P;D	0.54047	0.896;0.964	B;B	0.43623	0.238;0.425	T	0.36529	-0.9744	9	.	.	.	-0.0603	14.6486	0.68780	0.0:1.0:0.0:0.0	.	729;861	E9PGM9;P78332	.;RBM6_HUMAN	M	339;861;729;203;339;109	ENSP00000393530:T339M;ENSP00000266022:T861M;ENSP00000396466:T729M;ENSP00000443165:T203M;ENSP00000392939:T339M	.	T	+	2	0	RBM6	50074541	0.061000	0.20836	0.032000	0.17829	0.179000	0.23085	3.445000	0.52921	2.730000	0.93505	0.650000	0.86243	ACG		0.378	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777	
RBM15B	29890	broad.mit.edu	37	3	51429849	51429850	+	Frame_Shift_Ins	INS	-	-	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:51429849_51429850insA	ENST00000323686.4	+	1	1119_1120	c.1019_1020insA	c.(1018-1023)ttcattfs	p.FI340fs		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	340	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGCAACCTCTTCATTGGTAACC	0.609																																						uc003dbd.2																			0					0						c.(1018-1020)TTCfs		RNA binding motif protein 15B																																				SO:0001589	frameshift_variant	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51429849_51429850insA	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	Exception_encountered	3.37:g.51429849_51429850insA	ENSP00000313890:p.Phe340fs						p.F340fs	NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	1119_1120	+			340			RRM 2.		A4QPG7|Q6QE19|Q9BV96	Frame_Shift_Ins	INS	ENST00000323686.4	37	c.1019_1020insA	CCDS33764.1																																																																																				0.609	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286	
CADPS	8618	broad.mit.edu	37	3	62467450	62467450	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:62467450G>T	ENST00000383710.4	-	22	3470	c.3121C>A	c.(3121-3123)Caa>Aaa	p.Q1041K	CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Intron	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1041	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GTAGGCATTTGTGGGATGCCT	0.423																																						uc003dll.2																			0				central_nervous_system(2)|ovary(1)	3						c.(3121-3123)CAA>AAA		Ca2+-dependent secretion activator isoform 1							225.0	212.0	216.0					3																	62467450		1911	4132	6043	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62467450G>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3121C>A	3.37:g.62467450G>T	ENSP00000373215:p.Gln1041Lys					CADPS_uc003dlj.1_5'UTR|CADPS_uc003dlk.1_Intron|CADPS_uc003dlm.2_Intron|CADPS_uc003dln.2_Intron	p.Q1041K	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	22	3481	-		Lung SC(41;0.0452)	1041			MHD1.|Interaction with DRD2.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.3121C>A	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.63|11.63	1.695190|1.695190	0.30052|0.30052	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000473635|ENST00000383709;ENST00000383710	.|T	.|0.28255	.|1.62	5.28|5.28	5.28|5.28	0.74379|0.74379	.|Munc13 homology 1 (1);	.|0.138072	.|0.50627	.|D	.|0.000104	T|T	0.30230|0.30230	0.0758|0.0758	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|B	.|0.25105	.|0.118	.|B	.|0.22386	.|0.039	T|T	0.03443|0.03443	-1.1036|-1.1036	5|10	.|0.33141	.|T	.|0.24	.|.	17.4588|17.4588	0.87614|0.87614	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1041	.|Q9ULU8	.|CAPS1_HUMAN	Q|K	27|1041	.|ENSP00000373215:Q1041K	.|ENSP00000373214:Q1041K	H|Q	-|-	3|1	2|0	CADPS|CADPS	62442490|62442490	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.420000|9.420000	0.97426|0.97426	2.641000|2.641000	0.89580|0.89580	0.563000|0.563000	0.77884|0.77884	CAC|CAA		0.423	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	
ROBO2	6092	broad.mit.edu	37	3	77671470	77671470	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:77671470T>C	ENST00000461745.1	+	23	4547	c.3647T>C	c.(3646-3648)gTt>gCt	p.V1216A	ROBO2_ENST00000332191.8_Missense_Mutation_p.V1216A|ROBO2_ENST00000487694.3_Missense_Mutation_p.V1232A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1216					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GAAACGGATGTTGCAGATGAT	0.488																																						uc003dpy.3																			0				lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(3646-3648)GTT>GCT		roundabout, axon guidance receptor, homolog 2							128.0	128.0	128.0					3																	77671470		1918	4140	6058	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77671470T>C	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3647T>C	3.37:g.77671470T>C	ENSP00000417164:p.Val1216Ala					ROBO2_uc003dpz.2_Missense_Mutation_p.V1220A|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.V1220A	p.V1216A	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	23	4290	+			1216			Cytoplasmic (Potential).		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.3647T>C	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	T	6.086	0.384137	0.11524	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191	T;T;T	0.61859	0.07;0.1;0.1	5.56	5.56	0.83823	.	0.000000	0.37715	N	0.001970	T	0.34774	0.0909	N	0.08118	0	0.28755	N	0.901237	B;B;B	0.30605	0.034;0.287;0.034	B;B;B	0.21151	0.01;0.033;0.01	T	0.44742	-0.9308	9	0.16420	T	0.52	.	15.6959	0.77499	0.0:0.0:0.0:1.0	.	1232;1216;1216	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	A	1232;1232;1216;1216	ENSP00000417335:V1232A;ENSP00000417164:V1216A;ENSP00000327536:V1216A	ENSP00000327536:V1216A	V	+	2	0	ROBO2	77754160	1.000000	0.71417	0.992000	0.48379	0.043000	0.13939	7.698000	0.84413	2.110000	0.64415	0.528000	0.53228	GTT		0.488	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
MORC1	27136	broad.mit.edu	37	3	108724078	108724078	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:108724078G>A	ENST00000483760.1	-	18	1832	c.1789C>T	c.(1789-1791)Cgt>Tgt	p.R597C	MORC1_ENST00000232603.5_Missense_Mutation_p.R618C					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGTCCTCTACGGCTCGCTGAA	0.363																																						uc003dxl.2																			0				ovary(3)|skin(3)|breast(2)	8						c.(1852-1854)CGT>TGT		MORC family CW-type zinc finger 1							59.0	60.0	59.0					3																	108724078		2203	4299	6502	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108724078G>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1789C>T	3.37:g.108724078G>A	ENSP00000417282:p.Arg597Cys					MORC1_uc011bhn.1_Missense_Mutation_p.R597C	p.R618C	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			19	1939	-			618						Missense_Mutation	SNP	ENST00000483760.1	37	c.1852C>T		.	.	.	.	.	.	.	.	.	.	G	10.39	1.338286	0.24253	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06849	3.31;3.25	4.36	2.54	0.30619	.	0.474972	0.17993	N	0.155154	T	0.03390	0.0098	N	0.08118	0	0.09310	N	1	P;B	0.40931	0.733;0.431	B;B	0.31547	0.132;0.131	T	0.39663	-0.9603	10	0.54805	T	0.06	1.1908	7.2089	0.25923	0.2043:0.0:0.7957:0.0	.	597;618	E7ERX1;Q86VD1	.;MORC1_HUMAN	C	618;597	ENSP00000232603:R618C;ENSP00000417282:R597C	ENSP00000232603:R618C	R	-	1	0	MORC1	110206768	0.001000	0.12720	0.001000	0.08648	0.013000	0.08279	0.570000	0.23653	0.757000	0.33036	0.650000	0.86243	CGT		0.363	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1		
ECT2	1894	broad.mit.edu	37	3	172501613	172501613	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:172501613C>G	ENST00000392692.3	+	16	1818	c.1642C>G	c.(1642-1644)Cct>Gct	p.P548A	ECT2_ENST00000417960.1_Missense_Mutation_p.P516A|ECT2_ENST00000232458.5_Missense_Mutation_p.P517A|ECT2_ENST00000427830.1_Missense_Mutation_p.P517A|ECT2_ENST00000540509.1_Missense_Mutation_p.P548A|ECT2_ENST00000441497.2_Missense_Mutation_p.P517A	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	548	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAAAACCTACCCTCCCTTTGT	0.308																																						uc003fii.2																			0				breast(2)|ovary(1)|skin(1)	4						c.(1549-1551)CCT>GCT		epithelial cell transforming sequence 2 oncogene							71.0	78.0	76.0					3																	172501613		2202	4290	6492	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172501613C>G	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1642C>G	3.37:g.172501613C>G	ENSP00000376457:p.Pro548Ala					ECT2_uc010hwv.1_Missense_Mutation_p.P548A|ECT2_uc003fih.2_Missense_Mutation_p.P516A|ECT2_uc003fij.1_Missense_Mutation_p.P517A|ECT2_uc003fik.1_Missense_Mutation_p.P517A|ECT2_uc003fil.1_Missense_Mutation_p.P548A	p.P517A	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		15	1687	+	Ovarian(172;0.00197)|Breast(254;0.158)		517			DH.		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.1549C>G	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938491	0.92526	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08	5.98	5.98	0.97165	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.74374	0.3708	L	0.55103	1.725	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;0.996;0.982	D;D;D;D	0.91635	0.98;0.999;0.977;0.931	T	0.74197	-0.3743	10	0.72032	D	0.01	-20.6523	20.0532	0.97636	0.0:1.0:0.0:0.0	.	548;548;517;516	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	A	517;548;517;516;517;548	ENSP00000232458:P517A;ENSP00000376457:P548A;ENSP00000401910:P517A;ENSP00000415876:P516A;ENSP00000412259:P517A;ENSP00000443160:P548A	ENSP00000232458:P517A	P	+	1	0	ECT2	173984307	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.176000	0.77643	2.835000	0.97688	0.650000	0.86243	CCT		0.308	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098	
TP63	8626	broad.mit.edu	37	3	189582022	189582022	+	Splice_Site	SNP	A	A	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:189582022A>C	ENST00000264731.3	+	5	670	c.581A>C	c.(580-582)tAt>tCt	p.Y194S	TP63_ENST00000392460.3_Splice_Site_p.Y194S|TP63_ENST00000449992.1_Splice_Site_p.Y15S|TP63_ENST00000440651.2_Splice_Site_p.Y194S|TP63_ENST00000320472.5_Splice_Site_p.Y194S|TP63_ENST00000456148.1_Splice_Site_p.Y100S|TP63_ENST00000382063.4_Splice_Site_p.Y109S|TP63_ENST00000354600.5_Splice_Site_p.Y100S|TP63_ENST00000392461.3_Splice_Site_p.Y100S|TP63_ENST00000418709.2_Splice_Site_p.Y194S|TP63_ENST00000392463.2_Splice_Site_p.Y100S|TP63_ENST00000437221.1_Splice_Site_p.Y100S	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	194					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TCTAAGCAGTATTCCACTGAA	0.463										HNSCC(45;0.13)																												uc003fry.2																			0				skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(580-582)TAT>TCT		tumor protein p63 isoform 1							175.0	183.0	181.0					3																	189582022		2203	4300	6503	SO:0001630	splice_region_variant	8626	Hay-Wells_syndrome			anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189582022A>C	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.580-1A>C	3.37:g.189582022A>C		HNSCC(45;0.13)				TP63_uc003frx.2_Missense_Mutation_p.Y194S|TP63_uc003frz.2_Missense_Mutation_p.Y194S|TP63_uc010hzc.1_Missense_Mutation_p.Y194S|TP63_uc003fsa.2_Missense_Mutation_p.Y100S|TP63_uc003fsb.2_Missense_Mutation_p.Y100S|TP63_uc003fsc.2_Missense_Mutation_p.Y100S|TP63_uc003fsd.2_Missense_Mutation_p.Y100S|TP63_uc010hzd.1_Missense_Mutation_p.Y15S|TP63_uc003fse.1_Missense_Mutation_p.Y75S	p.Y194S	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	5	670	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		194					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.581A>C	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409178	0.83340	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000434928;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;T;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;2.6;-7.32;-7.32;-7.32;-7.32;-7.32	5.36	5.36	0.76844	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.84948	2.725	0.80722	D	1	D;D;D;P;D;P;P;D;D;D	0.89917	1.0;0.977;0.959;0.922;0.959;0.922;0.937;0.959;1.0;0.959	D;D;D;P;P;P;P;D;D;P	0.97110	1.0;0.934;0.948;0.904;0.834;0.834;0.897;0.93;0.999;0.834	D	0.96607	0.9449	9	.	.	.	-7.229	14.8154	0.70031	1.0:0.0:0.0:0.0	.	15;194;194;100;100;100;100;194;194;194	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	S	194;194;194;194;194;109;100;172;100;100;100;15;100	ENSP00000264731:Y194S;ENSP00000407144:Y194S;ENSP00000317510:Y194S;ENSP00000376253:Y194S;ENSP00000394337:Y194S;ENSP00000371495:Y109S;ENSP00000346614:Y100S;ENSP00000401661:Y172S;ENSP00000392488:Y100S;ENSP00000376256:Y100S;ENSP00000376254:Y100S;ENSP00000387839:Y15S;ENSP00000389485:Y100S	.	Y	+	2	0	TP63	191064716	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.245000	0.95431	2.151000	0.67156	0.533000	0.62120	TAT		0.463	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722	Missense_Mutation
CPN2	1370	broad.mit.edu	37	3	194062052	194062052	+	Silent	SNP	G	G	A	rs369348669		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:194062052G>A	ENST00000323830.3	-	2	1469	c.1380C>T	c.(1378-1380)gaC>gaT	p.D460D	CPN2_ENST00000429275.1_Silent_p.D460D	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	460					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CCTTGCTTTCGTCCGGCCACG	0.657													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18403	0.0		0.0	False		,,,				2504	0.0					uc003fts.2																			0				ovary(5)	5						c.(1378-1380)GAC>GAT		carboxypeptidase N, polypeptide 2		G		1,4405	2.1+/-5.4	0,1,2202	65.0	68.0	67.0		1380	-8.4	0.0	3		67	0,8600		0,0,4300	no	coding-synonymous	CPN2	NM_001080513.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		460/546	194062052	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194062052G>A	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1380C>T	3.37:g.194062052G>A							p.D460D	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	2	1470	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		460					B2RPE7|Q86SU4|Q8N5V4	Silent	SNP	ENST00000323830.3	37	c.1380C>T	CCDS33920.1																																																																																				0.657	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513	
ATP13A3	79572	broad.mit.edu	37	3	194165469	194165469	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:194165469C>T	ENST00000439040.1	-	15	2335	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	ATP13A3_ENST00000256031.4_Missense_Mutation_p.R515Q			Q9H7F0	AT133_HUMAN	ATPase type 13A3	515						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ATTTTCCACTCGTTGAATCCC	0.308																																						uc003fty.3																			0				ovary(1)	1						c.(1543-1545)CGA>CAA		ATPase type 13A3							123.0	115.0	118.0					3																	194165469		1815	4074	5889	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194165469C>T	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.1544G>A	3.37:g.194165469C>T	ENSP00000416508:p.Arg515Gln					ATP13A3_uc003ftz.1_Missense_Mutation_p.R221Q	p.R515Q	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	14	1946	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	515					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.1544G>A	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033286	0.75504	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	T;T	0.66280	-0.2;-0.2	5.38	5.38	0.77491	ATPase, cation-transporting, domain N (1);HAD-like domain (1);	0.107759	0.64402	D	0.000013	T	0.53883	0.1824	L	0.36672	1.1	0.58432	D	0.999991	B	0.13145	0.007	B	0.17098	0.017	T	0.49283	-0.8956	10	0.14656	T	0.56	-3.1724	19.18	0.93619	0.0:1.0:0.0:0.0	.	515	Q9H7F0	AT133_HUMAN	Q	515;515;253	ENSP00000416508:R515Q;ENSP00000256031:R515Q	ENSP00000256031:R515Q	R	-	2	0	ATP13A3	195646758	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.119000	0.64679	2.529000	0.85273	0.585000	0.79938	CGA		0.308	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524	
FRAS1	80144	broad.mit.edu	37	4	79236806	79236806	+	Silent	SNP	T	T	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr4:79236806T>G	ENST00000325942.6	+	16	2177	c.1737T>G	c.(1735-1737)acT>acG	p.T579T	FRAS1_ENST00000264895.6_Silent_p.T579T|FRAS1_ENST00000264899.6_Silent_p.T579T	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	579					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TTACCTGTACTGAGAAGACAG	0.517																																						uc003hlb.2																			0				large_intestine(5)	5						c.(1735-1737)ACT>ACG		Fraser syndrome 1							164.0	154.0	157.0					4																	79236806		1966	4159	6125	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79236806T>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1737T>G	4.37:g.79236806T>G						FRAS1_uc003hkw.2_Silent_p.T579T|FRAS1_uc003hky.1_Silent_p.T283T|FRAS1_uc003hkz.2_Silent_p.T283T|FRAS1_uc003hla.1_Silent_p.T90T	p.T579T	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			16	2177	+			579			FU 4.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	c.1737T>G	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.049|0.049	-1.257124|-1.257124	0.01457|0.01457	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000502446|ENST00000508900	.|.	.|.	.|.	5.86|5.86	0.589|0.589	0.17452|0.17452	.|.	.|.	.|.	.|.	.|.	T|.	0.21103|.	0.0508|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.22556|.	-1.0213|.	4|.	.|.	.|.	.|.	.|.	1.7356|1.7356	0.02941|0.02941	0.1319:0.1322:0.2743:0.4616|0.1319:0.1322:0.2743:0.4616	.|.	.|.	.|.	.|.	R|G	508|422	.|.	.|.	L|X	+|+	2|1	0|0	FRAS1|FRAS1	79455830|79455830	0.024000|0.024000	0.19004|0.19004	0.017000|0.017000	0.16124|0.16124	0.008000|0.008000	0.06430|0.06430	0.251000|0.251000	0.18257|0.18257	0.106000|0.106000	0.17784|0.17784	0.528000|0.528000	0.53228|0.53228	CTG|TGA		0.517	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		
FRAS1	80144	broad.mit.edu	37	4	79400786	79400786	+	Missense_Mutation	SNP	C	C	T	rs199895644		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr4:79400786C>T	ENST00000264895.6	+	56	8797	c.8357C>T	c.(8356-8358)gCg>gTg	p.A2786V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2782	Calx-beta 3.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGAAGGGTGGCGACAGCCAAG	0.522																																						uc003hlb.2																			0				large_intestine(5)	5						c.(8356-8358)GCG>GTG		Fraser syndrome 1		C	VAL/ALA	0,4154		0,0,2077	89.0	94.0	93.0		8357	5.9	1.0	4		93	1,8405		0,1,4202	yes	missense	FRAS1	NM_025074.6	64	0,1,6279	TT,TC,CC		0.0119,0.0,0.0080	possibly-damaging	2786/4013	79400786	1,12559	2077	4203	6280	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79400786C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8357C>T	4.37:g.79400786C>T	ENSP00000264895:p.Ala2786Val						p.A2786V	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			56	8797	+			2781			Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.8357C>T	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326631	0.41197	0.0	1.19E-4	ENSG00000138759	ENST00000264895	T	0.28454	1.61	5.94	5.94	0.96194	.	0.252983	0.39687	N	0.001297	T	0.30634	0.0771	L	0.52573	1.65	0.80722	D	1	P	0.43607	0.812	B	0.34093	0.175	T	0.11494	-1.0585	10	0.56958	D	0.05	.	20.4384	0.99098	0.0:1.0:0.0:0.0	.	2786	E9PHH6	.	V	2786	ENSP00000264895:A2786V	ENSP00000264895:A2786V	A	+	2	0	FRAS1	79619810	1.000000	0.71417	0.952000	0.39060	0.024000	0.10985	5.941000	0.70195	2.831000	0.97527	0.644000	0.83932	GCG		0.522	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
FHDC1	85462	broad.mit.edu	37	4	153881743	153881743	+	Silent	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr4:153881743C>T	ENST00000511601.1	+	5	878	c.690C>T	c.(688-690)ggC>ggT	p.G230G	FHDC1_ENST00000260008.3_Silent_p.G230G			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	230	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.							p.G230G(1)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CGTTTAGTGGCGACGTGTCGA	0.373																																						uc003inf.2																			1	Substitution - coding silent(1)		prostate(1)	large_intestine(1)|ovary(1)	2						c.(688-690)GGC>GGT		FH2 domain containing 1							119.0	114.0	116.0					4																	153881743		2203	4300	6503	SO:0001819	synonymous_variant	85462				actin cytoskeleton organization		actin binding	g.chr4:153881743C>T	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.690C>T	4.37:g.153881743C>T							p.G230G	NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN			4	765	+	all_hematologic(180;0.093)		230			FH2.			Silent	SNP	ENST00000511601.1	37	c.690C>T	CCDS34081.1																																																																																				0.373	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393	
TLR3	7098	broad.mit.edu	37	4	187003807	187003807	+	Frame_Shift_Del	DEL	A	A	-			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr4:187003807delA	ENST00000296795.3	+	4	1071	c.967delA	c.(967-969)aatfs	p.N323fs	TLR3_ENST00000508051.1_3'UTR|TLR3_ENST00000504367.1_Frame_Shift_Del_p.N46fs	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	323					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CGGGCTTTTCAATGTGAGGTA	0.368																																						uc003iyq.2																			0				ovary(2)|prostate(1)|lung(1)|breast(1)	5						c.(967-969)AATfs		toll-like receptor 3 precursor							57.0	58.0	58.0					4																	187003807		2203	4299	6502	SO:0001589	frameshift_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187003807delA	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.967delA	4.37:g.187003807delA	ENSP00000296795:p.Asn323fs					TLR3_uc011ckz.1_Frame_Shift_Del_p.N46fs|TLR3_uc003iyr.2_Frame_Shift_Del_p.N46fs	p.N323fs	NM_003265	NP_003256	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	4	1068	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	323			Lumenal (Potential).|LRR 12.		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Frame_Shift_Del	DEL	ENST00000296795.3	37	c.967delA	CCDS3846.1																																																																																				0.368	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4		
PRDM9	56979	broad.mit.edu	37	5	23526688	23526688	+	Missense_Mutation	SNP	G	G	C	rs536047035		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:23526688G>C	ENST00000296682.3	+	11	1673	c.1491G>C	c.(1489-1491)gaG>gaC	p.E497D		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	497					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGGAAGAAGAGTCCAGAACAG	0.453										HNSCC(3;0.000094)																												uc003jgo.2																			0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1489-1491)GAG>GAC		PR domain containing 9							61.0	60.0	61.0					5																	23526688		2009	4184	6193	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526688G>C	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1491G>C	5.37:g.23526688G>C	ENSP00000296682:p.Glu497Asp	HNSCC(3;0.000094)					p.E497D	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	1673	+			497					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1491G>C	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	9.100	1.003856	0.19199	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.09538	2.97	2.58	-0.949	0.10376	.	0.932998	0.08785	N	0.894047	T	0.08133	0.0203	L	0.53249	1.67	0.09310	N	1	P	0.48764	0.915	B	0.36922	0.236	T	0.26326	-1.0106	10	0.62326	D	0.03	-0.8271	1.1396	0.01762	0.1323:0.1883:0.2986:0.3808	.	497	Q9NQV7	PRDM9_HUMAN	D	497;291	ENSP00000296682:E497D	ENSP00000253473:E291D	E	+	3	2	PRDM9	23562445	0.002000	0.14202	0.000000	0.03702	0.077000	0.17291	1.116000	0.31221	-0.235000	0.09767	0.400000	0.26472	GAG		0.453	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
PRDM9	56979	broad.mit.edu	37	5	23526750	23526750	+	Missense_Mutation	SNP	T	T	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:23526750T>A	ENST00000296682.3	+	11	1735	c.1553T>A	c.(1552-1554)aTc>aAc	p.I518N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	518					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGGTAGGAATCTCAAGAATT	0.433										HNSCC(3;0.000094)																												uc003jgo.2																			0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1552-1554)ATC>AAC		PR domain containing 9							99.0	99.0	99.0					5																	23526750		2033	4206	6239	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526750T>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1553T>A	5.37:g.23526750T>A	ENSP00000296682:p.Ile518Asn	HNSCC(3;0.000094)					p.I518N	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	1735	+			518					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1553T>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.688854	0.29962	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.08807	3.05	2.71	1.5	0.22942	.	1.713840	0.03770	N	0.259509	T	0.08626	0.0214	L	0.40543	1.245	0.09310	N	1	P	0.51933	0.949	B	0.43331	0.416	T	0.29243	-1.0018	10	0.21014	T	0.42	-0.0399	4.5351	0.12024	0.0:0.1649:0.0:0.8351	.	518	Q9NQV7	PRDM9_HUMAN	N	518;312	ENSP00000296682:I518N	ENSP00000253473:I312N	I	+	2	0	PRDM9	23562507	0.000000	0.05858	0.001000	0.08648	0.744000	0.42396	-0.492000	0.06467	0.411000	0.25702	0.413000	0.27773	ATC		0.433	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
SPEF2	79925	broad.mit.edu	37	5	35740247	35740247	+	Missense_Mutation	SNP	T	T	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:35740247T>A	ENST00000356031.3	+	23	3362	c.3208T>A	c.(3208-3210)Ttt>Att	p.F1070I	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Missense_Mutation_p.F1065I	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1070					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTCCAGGAGTTTCTAAAGCG	0.388																																						uc003jjo.2																			0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(3208-3210)TTT>ATT		KPL2 protein isoform 1							155.0	144.0	148.0					5																	35740247		1875	4123	5998	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35740247T>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3208T>A	5.37:g.35740247T>A	ENSP00000348314:p.Phe1070Ile					SPEF2_uc003jjp.1_Missense_Mutation_p.F556I	p.F1070I	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		23	3319	+	all_lung(31;7.56e-05)		1070					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.3208T>A	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	T	13.95	2.390743	0.42410	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.08634	3.08;3.07	5.83	4.68	0.58851	.	0.406531	0.28135	N	0.016468	T	0.17195	0.0413	M	0.80746	2.51	0.80722	D	1	P;P	0.42296	0.775;0.666	B;B	0.43916	0.436;0.252	T	0.00768	-1.1574	10	0.72032	D	0.01	.	11.6132	0.51074	0.0:0.0689:0.0:0.931	.	1065;1070	Q9C093-2;Q9C093	.;SPEF2_HUMAN	I	1070;1065	ENSP00000348314:F1070I;ENSP00000412125:F1065I	ENSP00000348314:F1070I	F	+	1	0	SPEF2	35776004	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	4.147000	0.58078	1.055000	0.40461	0.533000	0.62120	TTT		0.388	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722	
UGT3A1	133688	broad.mit.edu	37	5	35988627	35988627	+	Missense_Mutation	SNP	G	G	A	rs201087553		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:35988627G>A	ENST00000274278.3	-	2	478	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.R41W|UGT3A1_ENST00000333811.4_5'UTR	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	41						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAGACACCCGGTCCAACAGT	0.378																																						uc003jjv.1																			0				ovary(2)|central_nervous_system(1)	3						c.(121-123)CGG>TGG		UDP glycosyltransferase 3 family, polypeptide A1							90.0	85.0	87.0					5																	35988627		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35988627G>A		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.121C>T	5.37:g.35988627G>A	ENSP00000274278:p.Arg41Trp					UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.R41W|UGT3A1_uc011cor.1_Intron|UGT3A1_uc003jjy.1_5'UTR	p.R41W	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		2	278	-	all_lung(31;0.000197)		41			Extracellular (Potential).		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.121C>T	CCDS3913.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.69	1.713714	0.30413	.	.	ENSG00000145626	ENST00000274278;ENST00000503189	T;T	0.62498	0.02;0.02	3.2	2.19	0.27852	.	0.504967	0.16914	U	0.194386	T	0.70996	0.3288	M	0.68593	2.085	0.26392	N	0.976562	D;D	0.76494	0.999;0.999	P;D	0.63033	0.892;0.91	T	0.59215	-0.7496	10	0.66056	D	0.02	.	8.4186	0.32687	0.0:0.4106:0.5894:0.0	.	41;41	B7Z8Q8;Q6NUS8	.;UD3A1_HUMAN	W	41	ENSP00000274278:R41W;ENSP00000427079:R41W	ENSP00000274278:R41W	R	-	1	2	UGT3A1	36024384	0.000000	0.05858	0.007000	0.13788	0.333000	0.28666	0.173000	0.16724	1.707000	0.51288	0.455000	0.32223	CGG		0.378	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404	
SLC1A3	6507	broad.mit.edu	37	5	36677194	36677194	+	Silent	SNP	G	G	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:36677194G>C	ENST00000265113.4	+	6	1244	c.768G>C	c.(766-768)gtG>gtC	p.V256V	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Silent_p.V256V	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	256					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCGGTTTTGTGATTGGAAACA	0.473																																						uc003jkj.3																			0					0						c.(766-768)GTG>GTC		solute carrier family 1 (glial high affinity	L-Glutamic Acid(DB00142)						152.0	146.0	148.0					5																	36677194		2203	4300	6503	SO:0001819	synonymous_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36677194G>C		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.768G>C	5.37:g.36677194G>C						SLC1A3_uc011cox.1_Silent_p.V149V|SLC1A3_uc010iuy.2_Silent_p.V256V	p.V256V	NM_004172	NP_004163	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	1244	+	all_lung(31;0.000245)		256			Helical; (Potential).		B2R5T3|Q4JCQ8	Silent	SNP	ENST00000265113.4	37	c.768G>C	CCDS3919.1																																																																																				0.473	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172	
PIK3R1	5295	broad.mit.edu	37	5	67591259	67591261	+	In_Frame_Del	DEL	AAA	AAA	-			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:67591259_67591261delAAA	ENST00000521381.1	+	14	2373_2375	c.1757_1759delAAA	c.(1756-1761)caaaaa>caa	p.K587del	PIK3R1_ENST00000523872.1_In_Frame_Del_p.K224del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.K317del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.K587del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.K287del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.K587del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.K587del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	587					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.M582_D605>I(4)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TGGTTGACTCAAAAAGGTGTTCG	0.355			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.2				Rec	yes		5	5q13.1	5295	Mis|F|O	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			gliobastoma|ovarian|colorectal		7	Complex - deletion inframe(4)|Whole gene deletion(1)|Deletion - Frameshift(1)|Unknown(1)	p.M582_D605>I(4)|p.Y580fs*1(1)|p.?(1)	large_intestine(4)|lung(1)|ovary(1)|central_nervous_system(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101						c.(1756-1761)CAAAAA>CAA		phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591259_67591261delAAA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1757_1759delAAA	5.37:g.67591259_67591261delAAA	ENSP00000428056:p.Lys587del	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvb.2_In_Frame_Del_p.K587del|PIK3R1_uc003jvc.2_In_Frame_Del_p.K287del|PIK3R1_uc003jvd.2_In_Frame_Del_p.K317del|PIK3R1_uc003jve.2_In_Frame_Del_p.K266del|PIK3R1_uc011crb.1_In_Frame_Del_p.K257del	p.K587del	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	14	2317_2319	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	587					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1757_1759delAAA	CCDS3993.1																																																																																				0.355	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
PIK3R1	5295	broad.mit.edu	37	5	67593227	67593245	+	Splice_Site	DEL	CTCTCCTCTCTAGGGTGGA	CTCTCCTCTCTAGGGTGGA	-	rs143771559		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:67593227_67593245delCTCTCCTCTCTAGGGTGGA	ENST00000521381.1	+	16	2601_2607	c.1985_1991delCTCTCCTCTCTAGGGTGGA	c.(1984-1992)gctctcctc>gc	p.ALL662fs	PIK3R1_ENST00000523872.1_Splice_Site_p.ALL299fs|PIK3R1_ENST00000336483.5_Splice_Site_p.ALL392fs|PIK3R1_ENST00000521657.1_Splice_Site_p.ALL662fs|PIK3R1_ENST00000320694.8_Splice_Site_p.ALL362fs|PIK3R1_ENST00000396611.1_Splice_Site_p.ALL670fs|PIK3R1_ENST00000274335.5_Splice_Site_p.ALL662fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	662	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AGTTTTTCTTCTCTCCTCTCTAGGGTGGACGGCGAAGTA	0.429			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.2				Rec	yes		5	5q13.1	5295	Mis|F|O	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			gliobastoma|ovarian|colorectal		2	Whole gene deletion(1)|Unknown(1)	p.?(1)	large_intestine(1)|lung(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101						c.e16-1		phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)																																			SO:0001630	splice_region_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67593227_67593245delCTCTCCTCTCTAGGGTGGA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1986-1CTCTCCTCTCTAGGGTGGA>-	5.37:g.67593227_67593245delCTCTCCTCTCTAGGGTGGA		TCGA GBM(4;<1E-08)				PIK3R1_uc003jvb.2_Splice_Site_p.V662_splice|PIK3R1_uc003jvc.2_Splice_Site_p.V362_splice|PIK3R1_uc003jvd.2_Splice_Site_p.V392_splice|PIK3R1_uc003jve.2_Splice_Site_p.V341_splice	p.V662_splice	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	16	2546	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)						B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Splice_Site	DEL	ENST00000521381.1	37	c.1986_splice	CCDS3993.1																																																																																				0.429	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	Frame_Shift_Del
MCTP1	79772	broad.mit.edu	37	5	94044306	94044306	+	Nonsense_Mutation	SNP	T	T	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:94044306T>A	ENST00000515393.1	-	22	2838	c.2839A>T	c.(2839-2841)Aaa>Taa	p.K947*	MCTP1_ENST00000514040.1_5'UTR|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000312216.8_Nonsense_Mutation_p.K726*|MCTP1_ENST00000429576.2_Nonsense_Mutation_p.K640*|MCTP1_ENST00000505078.1_Nonsense_Mutation_p.K463*	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	947					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTTGTAAATTTATTGATGCCT	0.353																																						uc003kkx.2																			0				ovary(2)	2						c.(2839-2841)AAA>TAA		multiple C2 domains, transmembrane 1 isoform L							105.0	100.0	102.0					5																	94044306		2203	4300	6503	SO:0001587	stop_gained	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94044306T>A		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2839A>T	5.37:g.94044306T>A	ENSP00000424126:p.Lys947*					MCTP1_uc003kkv.2_Nonsense_Mutation_p.K726*|MCTP1_uc003kkw.2_Nonsense_Mutation_p.K640*|MCTP1_uc003kku.2_Nonsense_Mutation_p.K463*	p.K947*	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	22	2839	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	947					Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Nonsense_Mutation	SNP	ENST00000515393.1	37	c.2839A>T	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	T	39	7.720595	0.98453	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.285	15.1705	0.72869	0.0:0.0:0.0:1.0	.	.	.	.	X	947;640;463;726;667	.	ENSP00000308957:K726X	K	-	1	0	MCTP1	94070062	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.655000	0.83696	2.059000	0.61396	0.533000	0.62120	AAA		0.353	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	
CHD1	1105	broad.mit.edu	37	5	98192335	98192335	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:98192335G>A	ENST00000284049.3	-	35	5031	c.4882C>T	c.(4882-4884)Cat>Tat	p.H1628Y		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1628	3 X 5 AA repeats of H-S-D-H-R.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TGATCAGAATGAGATCTATCT	0.383																																						uc003knf.2																			0				lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(4882-4884)CAT>TAT		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						118.0	112.0	114.0					5																	98192335		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98192335G>A	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4882C>T	5.37:g.98192335G>A	ENSP00000284049:p.His1628Tyr					CHD1_uc010jbn.2_Missense_Mutation_p.H354Y	p.H1628Y	NM_001270	NP_001261	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	35	5030	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1628			3 X 5 AA repeats of H-S-D-H-R.|1.		Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.4882C>T	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	G	7.976	0.750102	0.15778	.	.	ENSG00000153922	ENST00000422663;ENST00000284049	D	0.89617	-2.54	5.55	5.55	0.83447	.	0.000000	0.34676	U	0.003775	T	0.71676	0.3368	N	0.01874	-0.695	0.41263	D	0.986799	B	0.06786	0.001	B	0.01281	0.0	T	0.69105	-0.5233	10	0.12766	T	0.61	.	12.8009	0.57586	0.0749:0.0:0.9251:0.0	.	1628	O14646	CHD1_HUMAN	Y	218;1628	ENSP00000284049:H1628Y	ENSP00000284049:H1628Y	H	-	1	0	CHD1	98220235	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.394000	0.73223	2.601000	0.87937	0.655000	0.94253	CAT		0.383	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270	
PCDHA10	56139	broad.mit.edu	37	5	140235776	140235776	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:140235776C>T	ENST00000307360.5	+	1	143	c.143C>T	c.(142-144)gCg>gTg	p.A48V	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A48V	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	48	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCGCATCGCGCAGGACCTG	0.652																																						uc003lhx.2																			0				ovary(2)|skin(2)|breast(1)	5						c.(142-144)GCG>GTG		protocadherin alpha 10 isoform 1 precursor							49.0	56.0	54.0					5																	140235776		2196	4268	6464	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140235776C>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.143C>T	5.37:g.140235776C>T	ENSP00000304234:p.Ala48Val					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.A48V|PCDHA10_uc011dad.1_Missense_Mutation_p.A48V	p.A48V	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	143	+			48			Extracellular (Potential).|Cadherin 1.		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.143C>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642599	0.87859	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.53423	0.62;0.62	4.27	4.27	0.50696	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.72708	0.3494	M	0.87269	2.87	0.44409	D	0.997322	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.79108	0.819;0.992;0.989	T	0.78897	-0.2023	9	0.62326	D	0.03	.	17.329	0.87258	0.0:1.0:0.0:0.0	.	48;48;48	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	V	48	ENSP00000421030:A48V;ENSP00000304234:A48V	ENSP00000304234:A48V	A	+	2	0	PCDHA10	140215960	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.788000	0.62439	2.391000	0.81399	0.556000	0.70494	GCG		0.652	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901	
PCDHAC1	56135	broad.mit.edu	37	5	140307515	140307515	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:140307515G>A	ENST00000253807.2	+	1	1038	c.1038G>A	c.(1036-1038)tcG>tcA	p.S346S	PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000409700.3_Silent_p.S346S|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	346					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S346S(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTCTTTCGAACCCAGTAC	0.517																																						uc003lih.2																			1	Substitution - coding silent(1)		large_intestine(1)	skin(3)|ovary(2)	5						c.(1036-1038)TCG>TCA		protocadherin alpha subfamily C, 1 isoform 1							140.0	131.0	134.0					5																	140307515		2203	4300	6503	SO:0001819	synonymous_variant	56135				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140307515G>A	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1038G>A	5.37:g.140307515G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Silent_p.S346S	p.S346S	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1214	+			346			Extracellular (Potential).		Q9Y5F5|Q9Y5I5	Silent	SNP	ENST00000253807.2	37	c.1038G>A	CCDS4241.1																																																																																				0.517	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898	
PCDHGB3	56102	broad.mit.edu	37	5	140778096	140778096	+	Intron	SNP	G	G	A	rs375949491		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:140778096G>A	ENST00000576222.1	+	1	2546				PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAAATTCACGCAAAATTCCT	0.423																																						uc003lkf.1																			0					0						c.(400-402)ACG>ACA		protocadherin gamma subfamily B, 5 isoform 1							48.0	47.0	47.0					5																	140778096		1857	4092	5949	SO:0001627	intron_variant	56101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140778096G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+25720G>A	5.37:g.140778096G>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.T134T	p.T134T	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	402	+			134			Extracellular (Potential).|Cadherin 2.		A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.402G>A	CCDS58980.1																																																																																				0.423	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
GABRA6	2559	broad.mit.edu	37	5	161128666	161128666	+	Missense_Mutation	SNP	A	A	G	rs554830106		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:161128666A>G	ENST00000274545.5	+	9	1682	c.1249A>G	c.(1249-1251)Ata>Gta	p.I417V	GABRA6_ENST00000523217.1_Missense_Mutation_p.I407V			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	417					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CACCAGTAAAATAGACCAGTA	0.468										TCGA Ovarian(5;0.080)			A|||	1	0.000199681	0.0	0.0	5008	,	,		17763	0.0		0.0	False		,,,				2504	0.001					uc003lyu.2																			0				ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1249-1251)ATA>GTA		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						125.0	115.0	118.0					5																	161128666		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161128666A>G		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1249A>G	5.37:g.161128666A>G	ENSP00000274545:p.Ile417Val	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Missense_Mutation_p.I188V	p.I417V	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1587	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	417			Cytoplasmic (Probable).		A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.1249A>G	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.430357	0.83776	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.85339	-1.97;-1.97	5.16	5.16	0.70880	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.229772	0.50627	D	0.000108	T	0.80934	0.4719	L	0.47716	1.5	0.52501	D	0.999951	P	0.36171	0.541	B	0.33254	0.16	T	0.82086	-0.0631	10	0.52906	T	0.07	.	15.2925	0.73875	1.0:0.0:0.0:0.0	.	417	Q16445	GBRA6_HUMAN	V	417;407	ENSP00000274545:I417V;ENSP00000430527:I407V	ENSP00000274545:I417V	I	+	1	0	GABRA6	161061244	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.176000	0.94839	2.079000	0.62486	0.533000	0.62120	ATA		0.468	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2		
DSP	1832	broad.mit.edu	37	6	7584328	7584328	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr6:7584328T>C	ENST00000379802.3	+	24	7174	c.6833T>C	c.(6832-6834)aTg>aCg	p.M2278T	DSP_ENST00000418664.2_Missense_Mutation_p.M1679T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2278	4.5 X 38 AA tandem repeats (Domain B).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TATGAGGCCATGAAAATTGGC	0.473																																						uc003mxp.1																			0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(6832-6834)ATG>ACG		desmoplakin isoform I							125.0	111.0	116.0					6																	7584328		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7584328T>C	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6833T>C	6.37:g.7584328T>C	ENSP00000369129:p.Met2278Thr					DSP_uc003mxq.1_Missense_Mutation_p.M1679T	p.M2278T	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	7112	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2278			Plectin 7.|Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.6833T>C	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.404028	0.62288	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.72942	-0.7;-0.7	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.79435	0.4445	M	0.73962	2.25	0.36316	D	0.857945	D;D	0.63046	0.963;0.992	D;D	0.69654	0.925;0.965	T	0.80046	-0.1546	10	0.38643	T	0.18	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	1726;2278	Q4LE79;P15924	.;DESP_HUMAN	T	2278;1679	ENSP00000369129:M2278T;ENSP00000396591:M1679T	ENSP00000369129:M2278T	M	+	2	0	DSP	7529327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.333000	0.79357	0.533000	0.62120	ATG		0.473	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
DNAH11	8701	broad.mit.edu	37	7	21609750	21609750	+	Missense_Mutation	SNP	G	G	T	rs373862531		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:21609750G>T	ENST00000409508.3	+	7	1289	c.1258G>T	c.(1258-1260)Gtg>Ttg	p.V420L	DNAH11_ENST00000328843.6_Missense_Mutation_p.V420L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	420	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACTGGAAAAGGTGCAGGTGGC	0.383									Kartagener syndrome																													uc003svc.2																			0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(1258-1260)GTG>TTG		dynein, axonemal, heavy chain 11							71.0	69.0	70.0					7																	21609750		1824	4079	5903	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21609750G>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1258G>T	7.37:g.21609750G>T	ENSP00000475939:p.Val420Leu						p.V420L	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			7	1289	+			420			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.1258G>T		.	.	.	.	.	.	.	.	.	.	g	5.503	0.277791	0.10403	.	.	ENSG00000105877	ENST00000328843	T	0.50548	0.74	5.89	5.01	0.66863	Dynein heavy chain, domain-1 (1);	0.065308	0.64402	N	0.000013	T	0.46367	0.1389	L	0.31752	0.955	0.47245	D	0.999362	D	0.57899	0.981	P	0.56514	0.8	T	0.38265	-0.9669	10	0.02654	T	1	.	15.5757	0.76380	0.0:0.0:0.8608:0.1392	.	420	Q96DT5	DYH11_HUMAN	L	420	ENSP00000330671:V420L	ENSP00000330671:V420L	V	+	1	0	DNAH11	21576275	1.000000	0.71417	1.000000	0.80357	0.405000	0.30901	2.872000	0.48467	1.511000	0.48818	-0.224000	0.12420	GTG		0.383	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
NPC1L1	29881	broad.mit.edu	37	7	44578753	44578753	+	Missense_Mutation	SNP	G	G	T	rs555437256		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:44578753G>T	ENST00000289547.4	-	2	1298	c.1243C>A	c.(1243-1245)Cct>Act	p.P415T	NPC1L1_ENST00000546276.1_Missense_Mutation_p.P415T|NPC1L1_ENST00000423141.1_Missense_Mutation_p.P415T|NPC1L1_ENST00000381160.3_Missense_Mutation_p.P415T	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	415					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GACCGGTTAGGAGCCGTCAGG	0.592																																						uc003tlb.2																			0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1243-1245)CCT>ACT		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)						75.0	85.0	82.0					7																	44578753		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44578753G>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1243C>A	7.37:g.44578753G>T	ENSP00000289547:p.Pro415Thr					NPC1L1_uc003tlc.2_Missense_Mutation_p.P415T|NPC1L1_uc011kbw.1_Missense_Mutation_p.P415T|NPC1L1_uc003tld.2_Missense_Mutation_p.P415T	p.P415T	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			2	1299	-			415			Extracellular (Potential).		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.1243C>A	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	g	9.856	1.194903	0.22037	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	5.05	1.93	0.25924	.	0.357051	0.29178	N	0.012909	D	0.84220	0.5424	M	0.70595	2.14	0.09310	N	1	B;B;B;B	0.27351	0.001;0.176;0.004;0.136	B;B;B;B	0.24541	0.002;0.054;0.005;0.031	T	0.67864	-0.5560	10	0.16420	T	0.52	-6.0997	8.1487	0.31128	0.0:0.145:0.4122:0.4428	.	415;415;415;415	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	T	415	ENSP00000289547:P415T;ENSP00000370552:P415T;ENSP00000438033:P415T;ENSP00000404670:P415T	ENSP00000289547:P415T	P	-	1	0	NPC1L1	44545278	0.601000	0.26907	0.001000	0.08648	0.963000	0.63663	1.408000	0.34668	0.450000	0.26774	0.462000	0.41574	CCT		0.592	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389	
LANCL2	55915	broad.mit.edu	37	7	55467774	55467774	+	Missense_Mutation	SNP	G	G	A	rs375166275		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:55467774G>A	ENST00000254770.2	+	4	1233	c.655G>A	c.(655-657)Gtg>Atg	p.V219M	LANCL2_ENST00000486376.1_3'UTR	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	219					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.V219M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TCCAGGCACCGTGTGTGAGTC	0.458													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15582	0.0		0.0	False		,,,				2504	0.0					uc003tqp.2																			1	Substitution - Missense(1)		endometrium(1)	ovary(1)|skin(1)	2						c.(655-657)GTG>ATG		LanC lantibiotic synthetase component C-like 2		G	MET/VAL	0,4406		0,0,2203	196.0	176.0	183.0		655	4.6	1.0	7		183	1,8599	1.2+/-3.3	0,1,4299	no	missense	LANCL2	NM_018697.3	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	219/451	55467774	1,13005	2203	4300	6503	SO:0001583	missense	55915				negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	g.chr7:55467774G>A	AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"""testis-specific adriamycin sensitivity protein"", ""G protein-coupled receptor 69B"""	612919	"""LanC (bacterial lantibiotic synthetase component C)-like 2"""	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.655G>A	7.37:g.55467774G>A	ENSP00000254770:p.Val219Met						p.V219M	NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)		4	1233	+	Breast(14;0.0379)		219					B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	ENST00000254770.2	37	c.655G>A	CCDS5517.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681011	0.88542	0.0	1.16E-4	ENSG00000132434	ENST00000254770	T	0.34072	1.38	5.48	4.6	0.57074	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.59155	0.2173	M	0.72118	2.19	0.58432	D	0.999992	D	0.76494	0.999	D	0.72625	0.978	T	0.64879	-0.6303	10	0.87932	D	0	.	15.36	0.74464	0.0:0.1404:0.8596:0.0	.	219	Q9NS86	LANC2_HUMAN	M	219	ENSP00000254770:V219M	ENSP00000254770:V219M	V	+	1	0	LANCL2	55435268	1.000000	0.71417	0.976000	0.42696	0.986000	0.74619	6.989000	0.76219	1.435000	0.47434	0.655000	0.94253	GTG		0.458	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697	
SEMA3C	10512	broad.mit.edu	37	7	80374224	80374224	+	Silent	SNP	A	A	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:80374224A>G	ENST00000265361.3	-	18	2803	c.2242T>C	c.(2242-2244)Ttg>Ctg	p.L748L	SEMA3C_ENST00000419255.2_Silent_p.L748L|SEMA3C_ENST00000544525.1_Silent_p.L766L	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	748					axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GACTCTGGCAACTGATTCCTC	0.393																																						uc003uhj.2																			0				ovary(1)	1						c.(2242-2244)TTG>CTG		semaphorin 3C precursor							127.0	125.0	126.0					7																	80374224		2203	4300	6503	SO:0001819	synonymous_variant	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80374224A>G	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.2242T>C	7.37:g.80374224A>G						SEMA3C_uc011kgw.1_Silent_p.L766L	p.L748L	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			18	2804	-			748					B4DRL8	Silent	SNP	ENST00000265361.3	37	c.2242T>C	CCDS5596.1																																																																																				0.393	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379	
KIAA1324L	222223	broad.mit.edu	37	7	86521207	86521207	+	Splice_Site	SNP	T	T	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:86521207T>A	ENST00000450689.2	-	21	3050		c.e21-2		KIAA1324L_ENST00000444627.1_Splice_Site|KIAA1324L_ENST00000297222.6_Splice_Site|KIAA1324L_ENST00000416314.1_Splice_Site	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like							integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TATTCCAGTCTAAATAGTGAT	0.303																																						uc011kha.1																			0				ovary(6)|skin(1)	7						c.e21-1		hypothetical protein LOC222223 isoform 1							37.0	34.0	35.0					7																	86521207		2200	4297	6497	SO:0001630	splice_region_variant	222223					integral to membrane		g.chr7:86521207T>A	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2865-2A>T	7.37:g.86521207T>A						KIAA1324L_uc003uif.1_Splice_Site_p.K715_splice|KIAA1324L_uc011kgz.1_Splice_Site_p.K841_splice|KIAA1324L_uc003uie.2_Splice_Site_p.K788_splice	p.K955_splice	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN			21	3050	-	Esophageal squamous(14;0.0058)							A4D1C9|B4DJV3|Q17RI6|Q96DP2	Splice_Site	SNP	ENST00000450689.2	37	c.2865_splice	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.135597	0.77662	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314;ENST00000423294	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5592	0.76229	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1324L	86359143	1.000000	0.71417	0.991000	0.47740	0.960000	0.62799	7.651000	0.83577	2.323000	0.78572	0.528000	0.53228	.		0.303	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748	Intron
COL1A2	1278	broad.mit.edu	37	7	94042435	94042435	+	Missense_Mutation	SNP	T	T	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:94042435T>A	ENST00000297268.6	+	26	2015	c.1544T>A	c.(1543-1545)cTt>cAt	p.L515H		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	515					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CATGCTGGTCTTGCTGGTGCT	0.368										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(1543-1545)CTT>CAT		alpha 2 type I collagen precursor	Collagenase(DB00048)						314.0	280.0	292.0					7																	94042435		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94042435T>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1544T>A	7.37:g.94042435T>A	ENSP00000297268:p.Leu515His	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.L515H	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		26	2015	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		515					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.1544T>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	T	15.22	2.767696	0.49574	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.94966	-3.57	5.7	5.7	0.88788	.	0.125580	0.56097	D	0.000032	D	0.94112	0.8112	L	0.38838	1.175	0.36631	D	0.876292	P	0.43973	0.823	P	0.56278	0.795	D	0.95100	0.8229	10	0.49607	T	0.09	.	10.6054	0.45392	0.0:0.0716:0.0:0.9284	.	515	P08123	CO1A2_HUMAN	H	515;516	ENSP00000297268:L515H	ENSP00000297268:L515H	L	+	2	0	COL1A2	93880371	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.724000	0.54962	2.308000	0.77769	0.533000	0.62120	CTT		0.368	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	
WNT2	7472	broad.mit.edu	37	7	116955387	116955387	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:116955387G>T	ENST00000265441.3	-	3	625	c.326C>A	c.(325-327)gCc>gAc	p.A109D	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	109					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ATAAACAAAGGCAGATTCCCG	0.403																																						uc003viz.2																			0				breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7						c.(325-327)GCC>GAC		wingless-type MMTV integration site family							63.0	60.0	61.0					7																	116955387		2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116955387G>T	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.326C>A	7.37:g.116955387G>T	ENSP00000265441:p.Ala109Asp					WNT2_uc003vja.2_Intron	p.A109D	NM_003391	NP_003382	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	3	626	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		109					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.326C>A	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422594	0.83559	.	.	ENSG00000105989	ENST00000265441	D	0.83075	-1.68	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.95348	0.8490	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96833	0.9612	10	0.87932	D	0	.	19.1345	0.93420	0.0:0.0:1.0:0.0	.	109	P09544	WNT2_HUMAN	D	109	ENSP00000265441:A109D	ENSP00000265441:A109D	A	-	2	0	WNT2	116742623	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.576000	0.98192	2.838000	0.97847	0.655000	0.94253	GCC		0.403	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391	
HYAL4	23553	broad.mit.edu	37	7	123508674	123508674	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:123508674T>C	ENST00000223026.4	+	3	985	c.347T>C	c.(346-348)aTa>aCa	p.I116T	HYAL4_ENST00000476325.1_Missense_Mutation_p.I116T	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	116					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CCACAGAACATAAGTTTACAA	0.393																																						uc003vlc.2																			0				skin(1)	1						c.(346-348)ATA>ACA		hyaluronoglucosaminidase 4							70.0	77.0	74.0					7																	123508674		2203	4300	6503	SO:0001583	missense	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123508674T>C	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.347T>C	7.37:g.123508674T>C	ENSP00000223026:p.Ile116Thr					HYAL4_uc011knz.1_Missense_Mutation_p.I116T	p.I116T	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN			3	985	+			116			Extracellular (Potential).		D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	ENST00000223026.4	37	c.347T>C	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	T	0.898	-0.723170	0.03158	.	.	ENSG00000106302	ENST00000223026;ENST00000476325	T;T	0.22134	1.97;1.97	5.57	-0.836	0.10770	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.629214	0.17201	N	0.183101	T	0.05914	0.0154	N	0.03324	-0.35	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.31420	-0.9944	9	.	.	.	-2.2001	1.4876	0.02450	0.1316:0.2746:0.1364:0.4575	.	116;116	F8WDH9;Q2M3T9	.;HYAL4_HUMAN	T	116	ENSP00000223026:I116T;ENSP00000417186:I116T	.	I	+	2	0	HYAL4	123295910	0.048000	0.20356	0.465000	0.27155	0.439000	0.31926	0.250000	0.18235	0.162000	0.19483	0.533000	0.62120	ATA		0.393	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269	
PLXNA4	91584	broad.mit.edu	37	7	131865369	131865369	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:131865369G>A	ENST00000359827.3	-	19	4577	c.3615C>T	c.(3613-3615)aaC>aaT	p.N1205N	PLXNA4_ENST00000321063.4_Silent_p.N1205N			Q9HCM2	PLXA4_HUMAN	plexin A4	1205	IPT/TIG 4.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGCCGATGAGGTTGGGGGACT	0.602																																						uc003vra.3																			0				ovary(1)	1						c.(3613-3615)AAC>AAT		plexin A4 isoform 1							58.0	61.0	60.0					7																	131865369		2118	4245	6363	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131865369G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3615C>T	7.37:g.131865369G>A							p.N1205N	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			19	3844	-			1205			IPT/TIG 4.|Extracellular (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.3615C>T	CCDS43646.1																																																																																				0.602	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
PLAT	5327	broad.mit.edu	37	8	42036566	42036566	+	Missense_Mutation	SNP	G	G	A	rs564988743		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr8:42036566G>A	ENST00000220809.4	-	13	1635	c.1379C>T	c.(1378-1380)tCg>tTg	p.S460L	PLAT_ENST00000519510.1_Missense_Mutation_p.S397L|PLAT_ENST00000270189.6_Missense_Mutation_p.R291W|PLAT_ENST00000429089.2_Missense_Mutation_p.S460L|PLAT_ENST00000524009.1_Missense_Mutation_p.S371L|PLAT_ENST00000429710.2_Missense_Mutation_p.S334L|PLAT_ENST00000352041.3_Missense_Mutation_p.S414L	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	460	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	CAGCCGCTCCGAATAGAAAGG	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		19265	0.0		0.0	False		,,,				2504	0.001					uc003xos.2																			0				breast(1)|skin(1)	2						c.(1378-1380)TCG>TTG		plasminogen activator, tissue isoform 1	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						54.0	54.0	54.0					8																	42036566		2203	4300	6503	SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42036566G>A		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.1379C>T	8.37:g.42036566G>A	ENSP00000220809:p.Ser460Leu					PLAT_uc010lxf.1_Missense_Mutation_p.S377L|PLAT_uc010lxg.1_Missense_Mutation_p.S285L|PLAT_uc003xot.2_Missense_Mutation_p.S414L|PLAT_uc011lcm.1_Missense_Mutation_p.S371L|PLAT_uc011lcn.1_Missense_Mutation_p.S334L	p.S460L	NM_000930	NP_000921	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		13	1588	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	460			Peptidase S1.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.1379C>T	CCDS6126.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.163241|4.163241	0.78226|0.78226	.|.	.|.	ENSG00000104368|ENSG00000104368	ENST00000270189|ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	T|D;D;D;D;D;D	0.74315|0.90069	-0.83|-2.61;-2.61;-2.61;-2.61;-2.61;-2.61	5.22|5.22	5.22|5.22	0.72569|0.72569	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95376|0.95376	0.8499|0.8499	M|M	0.86343|0.86343	2.81|2.81	0.48395|0.48395	D|D	0.999641|0.999641	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;0.998;0.997;1.0	D|D	0.95842|0.95842	0.8867|0.8867	7|10	0.72032|0.87932	D|D	0.01|0	.|.	19.1774|19.1774	0.93607|0.93607	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|334;371;397;460;414;460	.|B4DNJ1;B4DN26;B4DV92;B8ZX62;P00750-3;P00750	.|.;.;.;.;.;TPA_HUMAN	W|L	291|460;460;414;397;334;371	ENSP00000270189:R291W|ENSP00000392045:S460L;ENSP00000220809:S460L;ENSP00000270188:S414L;ENSP00000428886:S397L;ENSP00000407861:S334L;ENSP00000429401:S371L	ENSP00000270189:R291W|ENSP00000220809:S460L	R|S	-|-	1|2	2|0	PLAT|PLAT	42155723|42155723	1.000000|1.000000	0.71417|0.71417	0.177000|0.177000	0.23020|0.23020	0.468000|0.468000	0.32798|0.32798	9.252000|9.252000	0.95491|0.95491	2.595000|2.595000	0.87683|0.87683	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.423	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930	
RP1	6101	broad.mit.edu	37	8	55533600	55533600	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr8:55533600G>A	ENST00000220676.1	+	2	222	c.74G>A	c.(73-75)cGc>cAc	p.R25H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	25					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)			CCACCCCCTCGCCATTTGAGC	0.517																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			0				skin(7)|ovary(4)|pancreas(1)	12						c.(73-75)CGC>CAC		retinitis pigmentosa RP1 protein							122.0	117.0	119.0					8																	55533600		2203	4300	6503	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.chr8:55533600G>A	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.74G>A	8.37:g.55533600G>A	ENSP00000220676:p.Arg25His					RP1_uc011ldy.1_Missense_Mutation_p.R25H	p.R25H	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)		2	222	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	25						Missense_Mutation	SNP	ENST00000220676.1	37	c.74G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.689846	0.68271	.	.	ENSG00000104237	ENST00000220676	T	0.28666	1.6	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000015	T	0.57946	0.2088	M	0.72118	2.19	0.49915	D	0.999831	D	0.89917	1.0	D	0.87578	0.998	T	0.60850	-0.7181	10	0.87932	D	0	-7.7653	19.2628	0.93974	0.0:0.0:1.0:0.0	.	25	P56715	RP1_HUMAN	H	25	ENSP00000220676:R25H	ENSP00000220676:R25H	R	+	2	0	RP1	55696153	0.995000	0.38212	0.518000	0.27811	0.051000	0.14879	3.421000	0.52742	2.545000	0.85829	0.650000	0.86243	CGC		0.517	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
NCOA2	10499	broad.mit.edu	37	8	71057034	71057034	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr8:71057034C>G	ENST00000452400.2	-	13	2836	c.2655G>C	c.(2653-2655)caG>caC	p.Q885H	NCOA2_ENST00000267974.4_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	885					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GTGGTAAATTCTGGTTTGGCA	0.423			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	uc003xyn.1				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	0				lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(2653-2655)CAG>CAC		nuclear receptor coactivator 2							180.0	170.0	173.0					8																	71057034		1892	4108	6000	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71057034C>G	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2655G>C	8.37:g.71057034C>G	ENSP00000399968:p.Gln885His					NCOA2_uc011lfb.1_Intron	p.Q885H	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		13	2817	-	Breast(64;0.201)		885					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.2655G>C	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.941090	0.73557	.	.	ENSG00000140396	ENST00000452400	T	0.01599	4.74	5.9	5.9	0.94986	.	0.050400	0.85682	D	0.000000	T	0.02083	0.0065	N	0.08118	0	0.80722	D	1	D	0.57899	0.981	P	0.45195	0.473	T	0.69098	-0.5235	10	0.56958	D	0.05	.	20.2626	0.98452	0.0:1.0:0.0:0.0	.	885	Q15596	NCOA2_HUMAN	H	885	ENSP00000399968:Q885H	ENSP00000399968:Q885H	Q	-	3	2	NCOA2	71219588	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.708000	0.54845	2.802000	0.96397	0.650000	0.86243	CAG		0.423	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		
TTC39B	158219	broad.mit.edu	37	9	15214139	15214139	+	Silent	SNP	G	G	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:15214139G>C	ENST00000512701.2	-	4	516	c.480C>G	c.(478-480)ccC>ccG	p.P160P	TTC39B_ENST00000297615.5_Intron|TTC39B_ENST00000507993.1_5'UTR|TTC39B_ENST00000507285.1_5'UTR|TTC39B_ENST00000541445.1_Silent_p.P94P|TTC39B_ENST00000355694.2_Silent_p.P94P|TTC39B_ENST00000582994.1_5'UTR|TTC39B_ENST00000380850.4_Silent_p.P160P			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	160										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TAAATTACCAGGGGCGAAGCA	0.373																																						uc003zlr.1																			0				ovary(1)	1						c.(280-282)CCC>CCG		tetratricopeptide repeat domain 39B							78.0	81.0	80.0					9																	15214139		2203	4300	6503	SO:0001819	synonymous_variant	158219						binding	g.chr9:15214139G>C	AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.480C>G	9.37:g.15214139G>C						TTC39B_uc003zlq.1_Silent_p.P63P|TTC39B_uc011lmp.1_5'UTR|TTC39B_uc010mie.1_Silent_p.P94P|TTC39B_uc011lmq.1_Silent_p.P94P|TTC39B_uc011lmr.1_Intron|TTC39B_uc010mif.1_Silent_p.P94P|TTC39B_uc003zls.1_5'UTR|TTC39B_uc010mig.1_Silent_p.P63P|TTC39B_uc011lms.1_RNA	p.P94P	NM_152574	NP_689787	Q5VTQ0	TT39B_HUMAN			4	403	-			94					A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Silent	SNP	ENST00000512701.2	37	c.282C>G	CCDS6477.2																																																																																				0.373	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574	
PTPN3	5774	broad.mit.edu	37	9	112200417	112200417	+	Silent	SNP	G	G	A	rs148263399	byFrequency	TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:112200417G>A	ENST00000374541.2	-	8	668	c.564C>T	c.(562-564)gtC>gtT	p.V188V	PTPN3_ENST00000412145.1_Silent_p.V57V|PTPN3_ENST00000446349.1_Silent_p.V57V|PTPN3_ENST00000262539.3_Silent_p.V79V	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	188	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCAGAGATTCGACTTTTGTTA	0.438																																						uc004bed.2																			0				ovary(3)	3						c.(562-564)GTC>GTT		protein tyrosine phosphatase, non-receptor type		G	,,,	1,4405	2.1+/-5.4	0,1,2202	87.0	90.0	89.0		564,171,171,564	2.8	1.0	9	dbSNP_134	89	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPN3	NM_001145368.1,NM_001145369.1,NM_001145370.1,NM_002829.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	188/869,57/783,57/738,188/914	112200417	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112200417G>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.564C>T	9.37:g.112200417G>A						PTPN3_uc004beb.2_Silent_p.V57V|PTPN3_uc004bec.2_Silent_p.V57V|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.V188V|PTPN3_uc011lwh.1_Silent_p.V79V	p.V188V	NM_002829	NP_002820	P26045	PTN3_HUMAN			8	676	-			188			FERM.		A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	c.564C>T	CCDS6776.1																																																																																				0.438	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4		
CRAT	1384	broad.mit.edu	37	9	131864744	131864744	+	Missense_Mutation	SNP	T	T	C	rs377397536		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:131864744T>C	ENST00000318080.2	-	5	859	c.565A>G	c.(565-567)Aca>Gca	p.T189A	RP11-247A12.1_ENST00000434250.1_RNA|CRAT_ENST00000464290.1_5'UTR	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	189					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TTGCTGACTGTGTCCTGCTTG	0.617																																						uc004bxh.2																			0				central_nervous_system(1)	1						c.(565-567)ACA>GCA		carnitine acetyltransferase precursor	L-Carnitine(DB00583)	T	ALA/THR	1,4405	2.1+/-5.4	0,1,2202	235.0	213.0	220.0		565	1.4	0.4	9		220	0,8600		0,0,4300	no	missense	CRAT	NM_000755.3	58	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	189/627	131864744	1,13005	2203	4300	6503	SO:0001583	missense	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131864744T>C	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.565A>G	9.37:g.131864744T>C	ENSP00000315013:p.Thr189Ala					CRAT_uc004bxg.2_Missense_Mutation_p.T168A|CRAT_uc004bxk.3_Missense_Mutation_p.T168A	p.T189A	NM_000755	NP_000746	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	5	847	-			189					Q5T952|Q9BW16	Missense_Mutation	SNP	ENST00000318080.2	37	c.565A>G	CCDS6919.1	.	.	.	.	.	.	.	.	.	.	T	6.316	0.426325	0.11987	2.27E-4	0.0	ENSG00000095321	ENST00000351352;ENST00000318080	D	0.89270	-2.49	5.33	1.39	0.22231	.	0.330632	0.30686	N	0.009084	T	0.80396	0.4615	L	0.49256	1.55	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.64736	-0.6337	10	0.07325	T	0.83	-1.473	6.4839	0.22077	0.4622:0.1314:0.0:0.4064	.	189	P43155	CACP_HUMAN	A	189	ENSP00000315013:T189A	ENSP00000315013:T189A	T	-	1	0	CRAT	130904565	1.000000	0.71417	0.416000	0.26546	0.179000	0.23085	1.817000	0.39002	0.312000	0.23038	-0.543000	0.04237	ACA		0.617	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1		
POMT1	10585	broad.mit.edu	37	9	134394274	134394274	+	Silent	SNP	C	C	T	rs139687326	byFrequency	TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:134394274C>T	ENST00000372228.3	+	15	1661	c.1482C>T	c.(1480-1482)gtC>gtT	p.V494V	POMT1_ENST00000419118.2_Silent_p.V320V|POMT1_ENST00000541219.1_Silent_p.V250V|RP11-334J6.6_ENST00000415423.1_RNA|POMT1_ENST00000354713.4_Silent_p.V442V|POMT1_ENST00000404875.2_Silent_p.V355V|POMT1_ENST00000341012.7_Silent_p.V418V|POMT1_ENST00000423007.1_Silent_p.V472V|POMT1_ENST00000402686.3_Silent_p.V472V|POMT1_ENST00000485278.1_3'UTR	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	494	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TGGAGATCGTCGGGGAGAAGC	0.677													C|||	6	0.00119808	0.0045	0.0	5008	,	,		19128	0.0		0.0	False		,,,				2504	0.0					uc004cav.2																			0				upper_aerodigestive_tract(1)	1						c.(1480-1482)GTC>GTT		protein-O-mannosyltransferase 1 isoform a		C	,,,,	38,4368	42.3+/-75.8	0,38,2165	51.0	50.0	50.0		1416,1254,1416,1065,1482	-11.0	0.4	9	dbSNP_134	50	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	POMT1	NM_001077365.1,NM_001077366.1,NM_001136113.1,NM_001136114.1,NM_007171.3	,,,,	0,38,6464	TT,TC,CC		0.0,0.8625,0.2922	,,,,	472/726,418/672,472/726,355/609,494/748	134394274	38,12966	2203	4299	6502	SO:0001819	synonymous_variant	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134394274C>T	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.1482C>T	9.37:g.134394274C>T						POMT1_uc004cax.2_Silent_p.V472V|POMT1_uc011mcj.1_Silent_p.V250V|POMT1_uc004cau.2_Silent_p.V472V|POMT1_uc004caw.2_Silent_p.V418V|POMT1_uc011mck.1_Silent_p.V355V|POMT1_uc011mcl.1_Silent_p.V320V|POMT1_uc011mcm.1_Silent_p.V442V|POMT1_uc011mcn.1_3'UTR	p.V494V	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	15	1684	+		Myeloproliferative disorder(178;0.204)	494			MIR 3.		B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Silent	SNP	ENST00000372228.3	37	c.1482C>T	CCDS6943.1																																																																																				0.677	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171	
COL5A1	1289	broad.mit.edu	37	9	137704532	137704532	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:137704532G>A	ENST00000371817.3	+	48	4240	c.3826G>A	c.(3826-3828)Gga>Aga	p.G1276R		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1276	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGTGGAATAGGAAACCCTGG	0.627																																						uc004cfe.2																			0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(3826-3828)GGA>AGA		alpha 1 type V collagen preproprotein							27.0	25.0	26.0					9																	137704532		2200	4295	6495	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137704532G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3826G>A	9.37:g.137704532G>A	ENSP00000360882:p.Gly1276Arg						p.G1276R	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	48	4208	+		Myeloproliferative disorder(178;0.0341)	1276			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.3826G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765906	0.69878	.	.	ENSG00000130635	ENST00000371817	D	0.97209	-4.29	4.77	4.77	0.60923	.	0.000000	0.85682	U	0.000000	D	0.98909	0.9630	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99731	1.1012	10	0.87932	D	0	.	17.7817	0.88526	0.0:0.0:1.0:0.0	.	1276	P20908	CO5A1_HUMAN	R	1276	ENSP00000360882:G1276R	ENSP00000360882:G1276R	G	+	1	0	COL5A1	136844353	1.000000	0.71417	0.758000	0.31321	0.683000	0.39861	9.774000	0.98992	2.200000	0.70718	0.643000	0.83706	GGA		0.627	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
LCN6	158062	broad.mit.edu	37	9	139639655	139639655	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:139639655C>T	ENST00000341206.4	-	4	423	c.379G>A	c.(379-381)Ggg>Agg	p.G127R	LCN10_ENST00000474369.1_5'Flank|LCN10_ENST00000527229.1_5'Flank|LCN6_ENST00000435202.1_Missense_Mutation_p.G117R|LCN10_ENST00000497771.1_5'Flank|LCN6_ENST00000476567.1_Missense_Mutation_p.G42R|LCN6_ENST00000471509.1_5'UTR|LCN6_ENST00000480584.1_5'UTR	NM_198946.2	NP_945184.1	P62502	LCN6_HUMAN	lipocalin 6	127					single fertilization (GO:0007338)	extracellular region (GO:0005576)				lung(3)|upper_aerodigestive_tract(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		GGCTCGTCCCCGAACTCCAGC	0.607																																					Melanoma(172;919 2704 37090 48131)	uc004ciy.2																			0					0						c.(379-381)GGG>AGG		lipocalin 6 precursor							113.0	106.0	108.0					9																	139639655		2203	4300	6503	SO:0001583	missense	158062				single fertilization	extracellular region	binding	g.chr9:139639655C>T	AF303084	CCDS7005.1	9q34.3	2012-10-08			ENSG00000267206	ENSG00000267206		"""Lipocalins"""	17337	protein-coding gene	gene with protein product		609379					Standard	NM_198946		Approved		uc004ciy.2	P62502	OTTHUMG00000020941	ENST00000341206.4:c.379G>A	9.37:g.139639655C>T	ENSP00000339621:p.Gly127Arg					LCN10_uc004civ.2_5'Flank|LCN10_uc011med.1_5'Flank|LCN10_uc010nbq.2_5'Flank|LCN10_uc011mee.1_5'Flank|LCN10_uc011mef.1_5'Flank|LCN10_uc004ciw.2_RNA|uc004ciz.1_5'Flank	p.G127R	NM_198946	NP_945184	P62502	LCN6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)	4	424	-	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	127					B0QZ80|Q71SF6	Missense_Mutation	SNP	ENST00000341206.4	37	c.379G>A	CCDS7005.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.910032	0.33721	.	.	ENSG00000204003	ENST00000341206	T	0.12361	2.69	3.55	1.52	0.23074	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.200710	0.06495	N	0.735332	T	0.17023	0.0409	L	0.56769	1.78	0.09310	N	1	D	0.55385	0.971	P	0.47864	0.559	T	0.22730	-1.0208	10	0.16896	T	0.51	-14.5044	4.8809	0.13679	0.0:0.6262:0.2315:0.1422	.	127	P62502	LCN6_HUMAN	R	127	ENSP00000339621:G127R	ENSP00000339621:G127R	G	-	1	0	LCN6	138759476	0.000000	0.05858	0.004000	0.12327	0.619000	0.37552	-0.117000	0.10708	0.215000	0.20761	0.450000	0.29827	GGG		0.607	LCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055107.3	NM_198946	
CSF2RA	1438	broad.mit.edu	37	X	1407534	1407534	+	Splice_Site	SNP	A	A	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:1407534A>G	ENST00000381524.3	+	5	528	c.342A>G	c.(340-342)tcA>tcG	p.S114S	CSF2RA_ENST00000417535.2_Splice_Site_p.S114S|CSF2RA_ENST00000432318.2_Splice_Site_p.S114S|CSF2RA_ENST00000361536.3_Splice_Site_p.S114S|CSF2RA_ENST00000381529.3_Splice_Site_p.S114S|CSF2RA_ENST00000381509.3_Splice_Site_p.S114S|CSF2RA_ENST00000355805.2_Splice_Site_p.S114S|CSF2RA_ENST00000355432.3_Splice_Site_p.S114S|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Splice_Site_p.S114S			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	114					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ATCCAAATTCAGGTAAGCAAG	0.443																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	uc010nct.2																			0				ovary(2)	2						c.(340-342)TCA>TCG		colony stimulating factor 2 receptor alpha chain	Sargramostim(DB00020)						265.0	260.0	262.0					X																	1407534		2203	4296	6499	SO:0001630	splice_region_variant	1438					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1407534A>G	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.343+1A>G	X.37:g.1407534A>G						CSF2RA_uc011mhb.1_Silent_p.S114S|CSF2RA_uc004cpq.2_Silent_p.S114S|CSF2RA_uc004cpn.2_Silent_p.S114S|CSF2RA_uc004cpo.2_Silent_p.S114S|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Silent_p.S114S|CSF2RA_uc010ncv.2_Silent_p.S114S|CSF2RA_uc004cpr.2_Silent_p.S114S	p.S114S	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN			6	664	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	114			Extracellular (Potential).		A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Silent	SNP	ENST00000381524.3	37	c.342A>G	CCDS35191.1																																																																																				0.443	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2		Silent
TLR7	51284	broad.mit.edu	37	X	12906437	12906437	+	Missense_Mutation	SNP	A	A	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:12906437A>T	ENST00000380659.3	+	3	2949	c.2810A>T	c.(2809-2811)cAg>cTg	p.Q937L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	937	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	TTACCAGGGCAGCCAGTTCTG	0.443																																						uc004cvc.2																			0				ovary(2)|lung(2)|breast(1)	5						c.(2809-2811)CAG>CTG		toll-like receptor 7 precursor	Imiquimod(DB00724)						113.0	117.0	115.0					X																	12906437		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12906437A>T	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2810A>T	X.37:g.12906437A>T	ENSP00000370034:p.Gln937Leu						p.Q937L	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			3	2949	+			937			TIR.|Cytoplasmic (Potential).		D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.2810A>T	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	A	7.112	0.576301	0.13686	.	.	ENSG00000196664	ENST00000380659	T	0.08807	3.05	5.75	5.75	0.90469	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.570953	0.18060	N	0.152976	T	0.05090	0.0136	N	0.04260	-0.245	0.36069	D	0.842005	B	0.10296	0.003	B	0.14023	0.01	T	0.44003	-0.9356	10	0.25106	T	0.35	.	15.033	0.71723	1.0:0.0:0.0:0.0	.	937	Q9NYK1	TLR7_HUMAN	L	937	ENSP00000370034:Q937L	ENSP00000370034:Q937L	Q	+	2	0	TLR7	12816358	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.834000	0.62774	1.932000	0.55993	0.486000	0.48141	CAG		0.443	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562	
BMX	660	broad.mit.edu	37	X	15526512	15526512	+	Silent	SNP	C	C	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:15526512C>G	ENST00000357607.2	+	2	224	c.36C>G	c.(34-36)ctC>ctG	p.L12L	BMX_ENST00000348343.6_Silent_p.L12L|BMX_ENST00000342014.6_Silent_p.L12L|BMX_ENST00000463891.1_3'UTR			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	12	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AACTTCTTCTCAAAAGATCAC	0.284																																						uc004cww.2																			0				lung(3)|ovary(2)	5						c.(34-36)CTC>CTG		BMX non-receptor tyrosine kinase							37.0	38.0	38.0					X																	15526512		2199	4284	6483	SO:0001819	synonymous_variant	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15526512C>G	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.36C>G	X.37:g.15526512C>G						BMX_uc004cwx.3_Silent_p.L12L|BMX_uc004cwy.3_Silent_p.L12L	p.L12L	NM_203281	NP_975010	P51813	BMX_HUMAN			2	224	+	Hepatocellular(33;0.183)		12			PH.		A6NIH9|O60564|Q12871	Silent	SNP	ENST00000357607.2	37	c.36C>G	CCDS14168.1																																																																																				0.284	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721	
CDKL5	6792	broad.mit.edu	37	X	18664128	18664128	+	Splice_Site	SNP	C	C	T	rs201714912		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:18664128C>T	ENST00000379989.3	+	20	3000	c.2715C>T	c.(2713-2715)gaC>gaT	p.D905D	CDKL5_ENST00000379996.3_Splice_Site_p.D905D|RS1_ENST00000476595.1_Intron|RS1_ENST00000379984.3_Intron	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	905					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.D905D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					actaactagacggtggatgtg	0.493													A|||	1	0.000264901	0.0	0.0	3775	,	,		14324	0.0		0.001	False		,,,				2504	0.0					uc004cym.2																			1	Substitution - coding silent(1)	p.D905D(1)	central_nervous_system(1)	ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6						c.(2713-2715)GAC>GAT		cyclin-dependent kinase-like 5		A	,,	1,3834		0,1,1631,571	140.0	112.0	122.0		,2715,2715	0.6	0.1	X		122	0,6728		0,0,2428,1872	no	intron,coding-synonymous-near-splice,coding-synonymous-near-splice	RS1,CDKL5	NM_000330.3,NM_001037343.1,NM_003159.2	,,	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	,,	,905/1031,905/1031	18664128	1,10562	2203	4300	6503	SO:0001630	splice_region_variant	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18664128C>T	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2714-1C>T	X.37:g.18664128C>T						CDKL5_uc004cyn.2_Silent_p.D905D|RS1_uc004cyo.2_Intron	p.D905D	NM_003159	NP_003150	O76039	CDKL5_HUMAN			19	2968	+	Hepatocellular(33;0.183)		905					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Silent	SNP	ENST00000379989.3	37	c.2715C>T	CCDS14186.1																																																																																				0.493	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159	Silent
UBQLN2	29978	broad.mit.edu	37	X	56590893	56590893	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:56590893C>T	ENST00000338222.5	+	1	868	c.587C>T	c.(586-588)tCg>tTg	p.S196L		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	196					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						AGCATGCTTTCGAATCCCGAT	0.473																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	uc004dus.2																			0				ovary(1)|skin(1)	2						c.(586-588)TCG>TTG		ubiquilin 2							81.0	77.0	79.0					X																	56590893		2203	4300	6503	SO:0001583	missense	29978					cytoplasm|nucleus|plasma membrane	binding	g.chrX:56590893C>T	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.587C>T	X.37:g.56590893C>T	ENSP00000345195:p.Ser196Leu					UBQLN2_uc011moq.1_Missense_Mutation_p.S196L	p.S196L	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN			1	822	+			196					O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	ENST00000338222.5	37	c.587C>T	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580204	0.65992	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	T	0.80393	-1.37	4.63	4.63	0.57726	Heat shock chaperonin-binding (1);	0.000000	0.64402	D	0.000016	D	0.91985	0.7461	H	0.95365	3.66	0.58432	D	0.999995	D;D	0.89917	0.996;1.0	P;D	0.69307	0.778;0.963	D	0.94112	0.7372	10	0.87932	D	0	-4.4721	14.1438	0.65336	0.0:1.0:0.0:0.0	.	196;196	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	L	196	ENSP00000345195:S196L	ENSP00000345195:S196L	S	+	2	0	UBQLN2	56607618	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.879000	0.69690	2.302000	0.77476	0.600000	0.82982	TCG		0.473	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444	
ATRX	546	broad.mit.edu	37	X	76918879	76918879	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:76918879C>G	ENST00000373344.5	-	12	4326	c.4112G>C	c.(4111-4113)aGa>aCa	p.R1371T	ATRX_ENST00000395603.3_Missense_Mutation_p.R1333T|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1371					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ACCCTTTCTTCTGTTTCTGCC	0.418			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3				Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(4111-4113)AGA>ACA		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						180.0	149.0	160.0					X																	76918879		2203	4295	6498	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76918879C>G	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4112G>C	X.37:g.76918879C>G	ENSP00000362441:p.Arg1371Thr					ATRX_uc004ecq.3_Missense_Mutation_p.R1333T|ATRX_uc004eco.3_Missense_Mutation_p.R1156T|ATRX_uc004ecr.2_Missense_Mutation_p.R1303T	p.R1371T	NM_000489	NP_000480	P46100	ATRX_HUMAN			12	4344	-			1371					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.4112G>C	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068745	0.36470	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.93953	-3.32;-3.32	4.22	4.22	0.49857	.	0.212247	0.39083	U	0.001468	D	0.92993	0.7770	M	0.64997	1.995	0.80722	D	1	P;B;B	0.49783	0.928;0.449;0.321	P;B;B	0.46758	0.526;0.177;0.086	D	0.92538	0.6039	10	0.37606	T	0.19	-10.4307	16.2231	0.82269	0.0:1.0:0.0:0.0	.	1303;1333;1371	P46100-6;P46100-4;P46100	.;.;ATRX_HUMAN	T	1371;1333;1298	ENSP00000362441:R1371T;ENSP00000378967:R1333T	ENSP00000362441:R1371T	R	-	2	0	ATRX	76805535	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	4.151000	0.58105	1.821000	0.53095	0.600000	0.82982	AGA		0.418	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
POU3F4	5456	broad.mit.edu	37	X	82763915	82763915	+	Missense_Mutation	SNP	G	G	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:82763915G>C	ENST00000373200.2	+	1	647	c.583G>C	c.(583-585)Gaa>Caa	p.E195Q	RP3-326L13.2_ENST00000607095.1_RNA|RP3-326L13.3_ENST00000607789.1_lincRNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	195	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						TGATGAGTTGGAACAGTTCGC	0.582																																						uc004eeg.2																			0				ovary(1)	1						c.(583-585)GAA>CAA		POU domain, class 3, transcription factor 4							47.0	41.0	43.0					X																	82763915		2203	4300	6503	SO:0001583	missense	5456				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	g.chrX:82763915G>C	X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.583G>C	X.37:g.82763915G>C	ENSP00000362296:p.Glu195Gln						p.E195Q	NM_000307	NP_000298	P49335	PO3F4_HUMAN			1	647	+			195			POU-specific.		B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	ENST00000373200.2	37	c.583G>C	CCDS14450.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411845	0.83340	.	.	ENSG00000196767	ENST00000373200	T	0.72282	-0.64	5.31	5.31	0.75309	POU-specific (3);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.85699	0.5757	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87914	0.2699	10	0.87932	D	0	.	17.9142	0.88944	0.0:0.0:1.0:0.0	.	195	P49335	PO3F4_HUMAN	Q	195	ENSP00000362296:E195Q	ENSP00000362296:E195Q	E	+	1	0	POU3F4	82650571	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.558000	0.98132	2.357000	0.79964	0.525000	0.51046	GAA		0.582	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307	
TAF7L	54457	broad.mit.edu	37	X	100538449	100538449	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:100538449C>G	ENST00000372907.3	-	4	537	c.526G>C	c.(526-528)Gac>Cac	p.D176H	TAF7L_ENST00000356784.1_Missense_Mutation_p.D90H|TAF7L_ENST00000372905.2_Missense_Mutation_p.D90H|TAF7L_ENST00000324762.6_Missense_Mutation_p.D90H	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	176					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGAGAAATGTCTGCTGTTTTA	0.378																																					Ovarian(104;431 1530 3210 15406 18594)	uc004ehb.2																			0				breast(1)	1						c.(526-528)GAC>CAC		TATA box binding protein-associated factor, RNA							145.0	143.0	144.0					X																	100538449		2203	4300	6503	SO:0001583	missense	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100538449C>G	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.526G>C	X.37:g.100538449C>G	ENSP00000361998:p.Asp176His					TAF7L_uc004eha.2_Missense_Mutation_p.D90H|TAF7L_uc004ehc.1_Missense_Mutation_p.D90H	p.D176H	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN			4	538	-			176					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	c.526G>C	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.594786	0.66219	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.64085	0.23;0.01;0.01;-0.08	5.64	4.78	0.61160	TAFII55 protein, conserved region (1);	0.000000	0.44688	D	0.000440	D	0.83617	0.5293	H	0.94658	3.565	0.51482	D	0.999929	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	D	0.87073	0.2161	10	0.87932	D	0	-19.8709	12.1452	0.54020	0.0:0.9187:0.0:0.0813	.	176;90	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	H	176;90;90;90	ENSP00000361998:D176H;ENSP00000361996:D90H;ENSP00000320283:D90H;ENSP00000349235:D90H	ENSP00000320283:D90H	D	-	1	0	TAF7L	100425105	1.000000	0.71417	0.985000	0.45067	0.921000	0.55340	4.240000	0.58701	1.153000	0.42468	-0.202000	0.12741	GAC		0.378	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2		
TAF7L	54457	broad.mit.edu	37	X	100538507	100538507	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:100538507C>G	ENST00000372907.3	-	4	479	c.468G>C	c.(466-468)ttG>ttC	p.L156F	TAF7L_ENST00000356784.1_Missense_Mutation_p.L70F|TAF7L_ENST00000372905.2_Missense_Mutation_p.L70F|TAF7L_ENST00000324762.6_Missense_Mutation_p.L70F	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	156					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TAACACAAGGCAAGTCAACCA	0.403																																					Ovarian(104;431 1530 3210 15406 18594)	uc004ehb.2																			0				breast(1)	1						c.(466-468)TTG>TTC		TATA box binding protein-associated factor, RNA							198.0	195.0	196.0					X																	100538507		2203	4300	6503	SO:0001583	missense	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100538507C>G	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.468G>C	X.37:g.100538507C>G	ENSP00000361998:p.Leu156Phe					TAF7L_uc004eha.2_Missense_Mutation_p.L70F|TAF7L_uc004ehc.1_Missense_Mutation_p.L70F	p.L156F	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN			4	480	-			156					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	c.468G>C	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079977	0.55753	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.70869	-0.13;-0.21;-0.21;-0.52	5.68	5.68	0.88126	TAFII55 protein, conserved region (1);	0.000000	0.35151	N	0.003406	D	0.88749	0.6521	H	0.94658	3.565	0.51233	D	0.999916	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91777	0.5432	10	0.87932	D	0	-7.5636	16.9151	0.86149	0.0:1.0:0.0:0.0	.	156;70	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	F	156;70;70;70	ENSP00000361998:L156F;ENSP00000361996:L70F;ENSP00000320283:L70F;ENSP00000349235:L70F	ENSP00000320283:L70F	L	-	3	2	TAF7L	100425163	1.000000	0.71417	0.996000	0.52242	0.295000	0.27426	1.520000	0.35899	2.372000	0.80975	0.594000	0.82650	TTG		0.403	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2		
KCNE1L	23630	broad.mit.edu	37	X	108868079	108868079	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:108868079G>A	ENST00000372101.2	-	1	314	c.171C>T	c.(169-171)gaC>gaT	p.D57D		NM_012282.2	NP_036414.1	Q9UJ90	KCE1L_HUMAN	KCNE1-like	57					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						GATAGGCGTCGTCGCCCTTGG	0.652																																						uc004eoh.2																			0					0						c.(169-171)GAC>GAT		potassium voltage-gated channel, Isk-related							45.0	40.0	42.0					X																	108868079		2203	4300	6503	SO:0001819	synonymous_variant	23630				regulation of heart contraction	voltage-gated potassium channel complex		g.chrX:108868079G>A	AJ012743	CCDS14547.1	Xq22.3	2008-02-05	2004-06-09		ENSG00000176076	ENSG00000176076		"""Potassium channels"""	6241	protein-coding gene	gene with protein product		300328	"""potassium voltage-gated channel, Isk-related family, member 1-like"""			10493825	Standard	NM_012282		Approved		uc004eoh.3	Q9UJ90	OTTHUMG00000022189	ENST00000372101.2:c.171C>T	X.37:g.108868079G>A							p.D57D	NM_012282	NP_036414	Q9UJ90	KCE1L_HUMAN			1	315	-			57						Silent	SNP	ENST00000372101.2	37	c.171C>T	CCDS14547.1																																																																																				0.652	KCNE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057892.1	NM_012282	
XPNPEP2	7512	broad.mit.edu	37	X	128890500	128890500	+	Missense_Mutation	SNP	A	A	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:128890500A>C	ENST00000371106.3	+	14	1528	c.1336A>C	c.(1336-1338)Atg>Ctg	p.M446L		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	446						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CTCAGATGAGATGTACCTGCT	0.592																																						uc004eut.1																			0					0						c.(1336-1338)ATG>CTG		X-prolyl aminopeptidase 2, membrane-bound							142.0	100.0	115.0					X																	128890500		2203	4300	6503	SO:0001583	missense	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128890500A>C	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1336A>C	X.37:g.128890500A>C	ENSP00000360147:p.Met446Leu						p.M446L	NM_003399	NP_003390	O43895	XPP2_HUMAN			14	1580	+			446					A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	c.1336A>C	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.605426	0.46423	.	.	ENSG00000122121	ENST00000371106	T	0.72835	-0.69	5.62	5.62	0.85841	Peptidase M24, structural domain (3);	0.035143	0.85682	D	0.000000	T	0.56247	0.1972	N	0.11870	0.19	0.45554	D	0.998508	B	0.27625	0.183	B	0.35727	0.209	T	0.53913	-0.8371	10	0.18710	T	0.47	-12.3024	13.6829	0.62496	1.0:0.0:0.0:0.0	.	446	O43895	XPP2_HUMAN	L	446	ENSP00000360147:M446L	ENSP00000360147:M446L	M	+	1	0	XPNPEP2	128718181	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.514000	0.60482	1.875000	0.54330	0.486000	0.48141	ATG		0.592	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399	
MAGEC1	9947	broad.mit.edu	37	X	140994261	140994261	+	Silent	SNP	T	T	C	rs58302943		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:140994261T>C	ENST00000285879.4	+	4	1357	c.1071T>C	c.(1069-1071)tcT>tcC	p.S357S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	357										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGAGTTCTCCTGAGAGTG	0.468										HNSCC(15;0.026)																												uc004fbt.2																			0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1069-1071)TCT>TCC		melanoma antigen family C, 1							106.0	106.0	106.0					X																	140994261		2200	4293	6493	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994261T>C	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1071T>C	X.37:g.140994261T>C		HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.S357S	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	1357	+	Acute lymphoblastic leukemia(192;6.56e-05)		357					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1071T>C	CCDS35417.1																																																																																				0.468	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462	
FLNA	2316	broad.mit.edu	37	X	153592699	153592699	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:153592699G>A	ENST00000369850.3	-	14	2300	c.2064C>T	c.(2062-2064)gcC>gcT	p.A688A	FLNA_ENST00000344736.4_Silent_p.A688A|FLNA_ENST00000422373.1_Silent_p.A688A|FLNA_ENST00000360319.4_Silent_p.A688A	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	688					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTTGTTGACGGCCACACCTG	0.637																																						uc004fkk.2																			0				breast(6)	6						c.(2062-2064)GCC>GCT		filamin A, alpha isoform 2							99.0	100.0	99.0					X																	153592699		2118	4216	6334	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153592699G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2064C>T	X.37:g.153592699G>A						FLNA_uc010nuu.1_Silent_p.A688A	p.A688A	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			14	2313	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		688			Filamin 5.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.2064C>T	CCDS48194.1																																																																																				0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3		
