#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KIF1B	23095	broad.mit.edu	37	1	10403337	10403337	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:10403337C>A	ENST00000377086.1	+	34	3882	c.3680C>A	c.(3679-3681)tCc>tAc	p.S1227Y	KIF1B_ENST00000263934.6_Missense_Mutation_p.S1181Y|KIF1B_ENST00000377081.1_Missense_Mutation_p.S1227Y			O60333	KIF1B_HUMAN	kinesin family member 1B	1227					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.S1181Y(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ATGCCACTGTCCAAGCCAGGT	0.423																																						uc001aqx.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(3679-3681)TCC>TAC		kinesin family member 1B isoform b							92.0	87.0	89.0					1																	10403337		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10403337C>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.3680C>A	1.37:g.10403337C>A	ENSP00000366290:p.Ser1227Tyr					KIF1B_uc001aqw.3_Missense_Mutation_p.S1181Y|KIF1B_uc001aqy.2_Missense_Mutation_p.S1201Y|KIF1B_uc001aqz.2_Missense_Mutation_p.S1227Y|KIF1B_uc001ara.2_Missense_Mutation_p.S1187Y|KIF1B_uc001arb.2_Missense_Mutation_p.S1213Y	p.S1227Y	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	34	3882	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1227					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.3680C>A		.	.	.	.	.	.	.	.	.	.	C	26.3	4.727961	0.89390	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.78126	-1.15;-1.15;-1.15	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.87657	0.6232	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D;D	0.89917	0.995;0.996;1.0;0.998;0.998;0.994	D;P;D;D;P;D	0.87578	0.961;0.757;0.998;0.997;0.896;0.989	D	0.89220	0.3570	10	0.87932	D	0	.	18.214	0.89879	0.0:1.0:0.0:0.0	.	1213;1187;1227;1201;1227;1181	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	Y	1227;1181;1227;1227	ENSP00000263934:S1181Y;ENSP00000366290:S1227Y;ENSP00000366284:S1227Y	ENSP00000263934:S1181Y	S	+	2	0	KIF1B	10325924	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.408000	0.80041	2.378000	0.81104	0.655000	0.94253	TCC		PASS	0.423	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			27	6	27	6	---	---	---	---
FBXO44	93611	broad.mit.edu	37	1	11721284	11721284	+	Missense_Mutation	SNP	C	C	T	rs567768918		TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:11721284C>T	ENST00000251547.5	+	6	804	c.722C>T	c.(721-723)cCg>cTg	p.P241L	FBXO44_ENST00000376770.1_Missense_Mutation_p.P241L|FBXO44_ENST00000376762.4_Silent_p.P199P|FBXO6_ENST00000376753.4_5'Flank|FBXO44_ENST00000251546.4_Silent_p.P199P|FBXO44_ENST00000376768.1_Silent_p.P231P|FBXO44_ENST00000376760.1_Silent_p.P199P	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	241	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)		p.P241L(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTACGGCCCGAGGGTCACC	0.632																																						uc001asm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(721-723)CCG>CTG		F-box protein 44 isoform 1							71.0	75.0	74.0					1																	11721284		2203	4300	6503	SO:0001583	missense	93611				protein catabolic process	SCF ubiquitin ligase complex	protein binding	g.chr1:11721284C>T	AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"""F-boxes /  ""other"""""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.722C>T	1.37:g.11721284C>T	ENSP00000251547:p.Pro241Leu					FBXO44_uc001ask.2_Silent_p.P199P|FBXO44_uc001asl.2_Missense_Mutation_p.P241L|FBXO44_uc001asn.2_Silent_p.P199P|FBXO44_uc010oar.1_Silent_p.P231P|FBXO44_uc010oas.1_Missense_Mutation_p.P101L|FBXO6_uc001aso.2_5'Flank	p.P241L	NM_033182	NP_149438	Q9H4M3	FBX44_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	6	848	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	241			FBA.		B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Missense_Mutation	SNP	ENST00000251547.5	37	c.722C>T	CCDS132.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220818	0.58560	.	.	ENSG00000132879	ENST00000376770;ENST00000251547	T;T	0.30981	1.51;1.51	4.82	4.82	0.62117	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.432182	0.26800	N	0.022426	T	0.35624	0.0938	.	.	.	0.38369	D	0.944812	D;D	0.64830	0.994;0.985	P;B	0.52758	0.708;0.404	T	0.17501	-1.0367	9	0.31617	T	0.26	-15.1344	8.5511	0.33451	0.0:0.8882:0.0:0.1118	.	101;241	B7Z3K4;Q9H4M3	.;FBX44_HUMAN	L	241	ENSP00000365961:P241L;ENSP00000251547:P241L	ENSP00000251547:P241L	P	+	2	0	FBXO44	11643871	0.697000	0.27767	1.000000	0.80357	0.992000	0.81027	3.537000	0.53590	2.228000	0.72767	0.561000	0.74099	CCG		PASS	0.632	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	NM_183412		51	13	51	13	---	---	---	---
JAK1	3716	broad.mit.edu	37	1	65309869	65309869	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:65309869G>A	ENST00000342505.4	-	17	2529	c.2281C>T	c.(2281-2283)Cct>Tct	p.P761S	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	761	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.P761S(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ACACACTCAGGAGCAATCCAT	0.498			Mis		ALL																																	uc001dbu.1				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61						c.(2281-2283)CCT>TCT		janus kinase 1							164.0	162.0	163.0					1																	65309869		2046	4199	6245	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65309869G>A	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2281C>T	1.37:g.65309869G>A	ENSP00000343204:p.Pro761Ser					JAK1_uc009wam.1_Missense_Mutation_p.P749S|JAK1_uc009wal.1_5'UTR	p.P761S	NM_002227	NP_002218	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	17	2530	-			761			Protein kinase 1.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.2281C>T	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464921	0.63513	.	.	ENSG00000162434	ENST00000342505	T	0.79749	-1.3	5.37	4.46	0.54185	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.92080	0.7490	H	0.97540	4.025	0.52501	D	0.999951	D	0.89917	1.0	D	0.91635	0.999	D	0.94741	0.7919	9	0.87932	D	0	-4.0998	14.3871	0.66953	0.0708:0.0:0.9292:0.0	.	761	P23458	JAK1_HUMAN	S	761	ENSP00000343204:P761S	ENSP00000343204:P761S	P	-	1	0	JAK1	65082457	1.000000	0.71417	0.370000	0.25965	0.248000	0.25809	9.143000	0.94623	1.493000	0.48517	0.561000	0.74099	CCT		PASS	0.498	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		13	125	13	125	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70504838	70504838	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:70504838C>A	ENST00000035383.5	+	19	3247	c.3217C>A	c.(3217-3219)Cct>Act	p.P1073T	LRRC7_ENST00000310961.5_Missense_Mutation_p.P1078T|LRRC7_ENST00000415775.2_Missense_Mutation_p.P357T	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1073						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.P1073T(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTTGATTAGTCCTAGAGCTTA	0.478																																						uc001dep.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(3217-3219)CCT>ACT		leucine rich repeat containing 7							68.0	72.0	71.0					1																	70504838		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504838C>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3217C>A	1.37:g.70504838C>A	ENSP00000035383:p.Pro1073Thr					LRRC7_uc009wbg.2_Missense_Mutation_p.P357T|LRRC7_uc001deq.2_Missense_Mutation_p.P314T	p.P1073T	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	3247	+			1073					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.3217C>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.952613	0.34471	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.40756	1.02;1.09;2.2	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.54013	0.1832	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.956;0.998;0.994	T	0.43972	-0.9358	10	0.38643	T	0.18	.	18.9453	0.92620	0.0:1.0:0.0:0.0	.	357;1073;1073	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	T	1078;1073;357;896	ENSP00000309245:P1078T;ENSP00000035383:P1073T;ENSP00000394867:P357T	ENSP00000035383:P1073T	P	+	1	0	LRRC7	70277426	1.000000	0.71417	0.277000	0.24703	0.005000	0.04900	7.409000	0.80053	2.721000	0.93114	0.655000	0.94253	CCT		PASS	0.478	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		45	3	45	3	---	---	---	---
SLC44A5	204962	broad.mit.edu	37	1	75805294	75805294	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:75805294G>T	ENST00000370855.5	-	4	187	c.74C>A	c.(73-75)cCa>cAa	p.P25Q	SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000370859.3_Missense_Mutation_p.P25Q	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	25					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P25Q(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CTTGAAATCTGGGTCATATGT	0.348																																						uc001dgu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(73-75)CCA>CAA		solute carrier family 44, member 5 isoform A							199.0	220.0	213.0					1																	75805294		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75805294G>T	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.74C>A	1.37:g.75805294G>T	ENSP00000359892:p.Pro25Gln					SLC44A5_uc001dgt.2_Missense_Mutation_p.P25Q|SLC44A5_uc001dgs.2_5'UTR|SLC44A5_uc001dgr.2_5'UTR|SLC44A5_uc010oqz.1_Missense_Mutation_p.P64Q|SLC44A5_uc010ora.1_Missense_Mutation_p.P19Q|SLC44A5_uc010orb.1_5'UTR	p.P25Q	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN			4	218	-			25			Cytoplasmic (Potential).		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.74C>A	CCDS667.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049720	0.36181	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535790	T;T	0.55930	0.49;0.49	5.54	3.62	0.41486	.	0.391386	0.28011	N	0.016955	T	0.58921	0.2156	M	0.84433	2.695	0.19945	N	0.999949	D;D;D;D	0.89917	0.999;0.991;0.995;1.0	D;D;D;D	0.78314	0.97;0.954;0.95;0.991	T	0.53995	-0.8359	10	0.46703	T	0.11	-0.1747	7.3769	0.26833	0.0859:0.0:0.7488:0.1653	.	19;64;25;25	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2	.;.;CTL5_HUMAN;.	Q	25;64;25;18	ENSP00000359896:P25Q;ENSP00000359892:P25Q	ENSP00000359892:P25Q	P	-	2	0	SLC44A5	75577882	0.786000	0.28738	0.001000	0.08648	0.581000	0.36288	2.471000	0.45127	0.777000	0.33496	0.650000	0.86243	CCA		PASS	0.348	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		244	52	244	52	---	---	---	---
LRIF1	55791	broad.mit.edu	37	1	111495194	111495194	+	Silent	SNP	T	T	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:111495194T>C	ENST00000369763.4	-	2	702	c.312A>G	c.(310-312)tcA>tcG	p.S104S	LRIF1_ENST00000494675.1_5'UTR|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	104					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)		p.S104S(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GAAAATAGTTTGAAGAACTGG	0.373																																						uc001eaa.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(310-312)TCA>TCG		receptor-interacting factor 1 isoform 1							86.0	89.0	88.0					1																	111495194		2203	4300	6503	SO:0001819	synonymous_variant	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111495194T>C	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.312A>G	1.37:g.111495194T>C						C1orf103_uc001dzz.2_5'UTR|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron	p.S104S	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)	2	568	-		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)	104					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Silent	SNP	ENST00000369763.4	37	c.312A>G	CCDS30800.1																																																																																				PASS	0.373	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		81	9	81	9	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118530769	118530769	+	Silent	SNP	T	T	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:118530769T>C	ENST00000336338.5	-	39	5645	c.5580A>G	c.(5578-5580)ccA>ccG	p.P1860P		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1860						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.P1860P(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATGTGTCTGGTGGGCATTTTG	0.358																																						uc001ehk.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(5578-5580)CCA>CCG		sperm associated antigen 17							68.0	64.0	66.0					1																	118530769		2203	4300	6503	SO:0001819	synonymous_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118530769T>C		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5580A>G	1.37:g.118530769T>C							p.P1860P	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	39	5648	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1860					Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	c.5580A>G	CCDS899.1																																																																																				PASS	0.358	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		26	10	26	10	---	---	---	---
HDGF	3068	broad.mit.edu	37	1	156714059	156714059	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:156714059C>A	ENST00000357325.5	-	4	699	c.385G>T	c.(385-387)Gca>Tca	p.A129S	HDGF_ENST00000537739.1_Missense_Mutation_p.A129S|HDGF_ENST00000368206.5_Missense_Mutation_p.A145S|HDGF_ENST00000416666.2_Missense_Mutation_p.A97S|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000368209.5_Missense_Mutation_p.A122S	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	129	Glu-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)	p.A129S(1)|p.A145S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CTGCCCTCTGCATTCCCCTTC	0.562																																						uc001fpy.3																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(385-387)GCA>TCA		hepatoma-derived growth factor isoform a							450.0	391.0	411.0					1																	156714059		2203	4300	6503	SO:0001583	missense	3068				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding	g.chr1:156714059C>A	D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"""high-mobility group protein 1-like"""	600339	"""hepatoma-derived growth factor (high-mobility group protein 1-like)"""			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.385G>T	1.37:g.156714059C>A	ENSP00000349878:p.Ala129Ser					HDGF_uc009wsd.2_Missense_Mutation_p.A97S|HDGF_uc001fpz.3_Missense_Mutation_p.A122S|HDGF_uc009wse.2_Missense_Mutation_p.A145S|HDGF_uc010phr.1_Missense_Mutation_p.A152S|HDGF_uc009wsf.2_Missense_Mutation_p.A97S|HDGF_uc009wsg.2_Missense_Mutation_p.A129S	p.A129S	NM_004494	NP_004485	P51858	HDGF_HUMAN		Colorectal(1306;0.018)	4	707	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)	129			Glu-rich.		B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Missense_Mutation	SNP	ENST00000357325.5	37	c.385G>T	CCDS1156.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.161706	0.38119	.	.	ENSG00000143321	ENST00000357325;ENST00000368209;ENST00000537739;ENST00000416666;ENST00000368206;ENST00000406805	T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5	4.6	2.57	0.30868	.	0.144048	0.45361	U	0.000363	T	0.46756	0.1409	L	0.59436	1.845	0.09310	N	0.999996	P;B;P;B;P	0.37061	0.58;0.102;0.58;0.295;0.518	B;B;B;B;B	0.35114	0.196;0.021;0.196;0.1;0.097	T	0.43540	-0.9385	10	0.72032	D	0.01	-8.8496	8.0179	0.30391	0.0:0.7797:0.0:0.2203	.	104;129;145;122;129	B7Z958;B2RDE8;Q5SZ07;Q5SZ08;P51858	.;.;.;.;HDGF_HUMAN	S	129;122;129;97;145;152	ENSP00000349878:A129S;ENSP00000357192:A122S;ENSP00000443120:A129S;ENSP00000416752:A97S;ENSP00000357189:A145S	ENSP00000349878:A129S	A	-	1	0	HDGF	154980683	0.967000	0.33354	0.151000	0.22473	0.975000	0.68041	2.297000	0.43593	1.166000	0.42689	0.449000	0.29647	GCA		PASS	0.562	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	NM_004494		537	352	537	352	---	---	---	---
CD1C	911	broad.mit.edu	37	1	158259909	158259909	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:158259909G>T	ENST00000368170.3	+	1	334	c.55G>T	c.(55-57)Gca>Tca	p.A19S		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	19					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)	p.A19S(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TGGTGACAATGCAGACGGTAA	0.468																																						uc001fru.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)|pancreas(1)	4						c.(55-57)GCA>TCA		CD1C antigen precursor							160.0	133.0	142.0					1																	158259909		2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158259909G>T	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.55G>T	1.37:g.158259909G>T	ENSP00000357152:p.Ala19Ser					CD1C_uc001frv.2_5'Flank	p.A19S	NM_001765	NP_001756	P29017	CD1C_HUMAN			1	347	+	all_hematologic(112;0.0378)		19			Extracellular (Potential).		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.55G>T	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	5.110	0.205914	0.09704	.	.	ENSG00000158481	ENST00000368169;ENST00000368170	T	0.18502	2.21	2.27	2.27	0.28462	.	1.233890	0.06300	N	0.700723	T	0.05502	0.0145	L	0.46157	1.445	0.09310	N	1	B	0.20887	0.049	B	0.19946	0.027	T	0.37709	-0.9694	10	0.15499	T	0.54	.	8.1895	0.31359	0.0:0.0:1.0:0.0	.	19	P29017	CD1C_HUMAN	S	19	ENSP00000357152:A19S	ENSP00000357151:A19S	A	+	1	0	CD1C	156526533	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	0.465000	0.22004	1.599000	0.50093	0.644000	0.83932	GCA		PASS	0.468	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		48	149	48	149	---	---	---	---
CFAP45	25790	broad.mit.edu	37	1	159846478	159846478	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:159846478T>C	ENST00000368099.4	-	10	1284	c.1220A>G	c.(1219-1221)aAg>aGg	p.K407R	CCDC19_ENST00000426543.2_Missense_Mutation_p.K322R|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2												p.E408delE(1)|p.K407R(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CGCATTTTCCTTTTCCTTTCT	0.552																																						uc001fui.2																			2	Substitution - Missense(1)|Deletion - In frame(1)		lung(1)|prostate(1)	ovary(1)	1						c.(1219-1221)AAG>AGG		nasopharyngeal epithelium specific protein 1							125.0	97.0	106.0					1																	159846478		2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159846478T>C																												ENST00000368099.4:c.1220A>G	1.37:g.159846478T>C	ENSP00000357079:p.Lys407Arg					CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.K322R|CCDC19_uc001ful.2_Missense_Mutation_p.K322R|CCDC19_uc009wtc.1_Silent_p.K406K	p.K407R	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		10	1238	-	all_hematologic(112;0.0597)		407			Potential.			Missense_Mutation	SNP	ENST00000368099.4	37	c.1220A>G	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	t	5.608	0.296879	0.10622	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.10099	2.91;2.91	5.16	3.95	0.45737	.	0.228496	0.43919	D	0.000510	T	0.02342	0.0072	N	0.17564	0.495	0.50171	D	0.999856	B	0.26512	0.151	B	0.25614	0.062	T	0.42649	-0.9439	9	.	.	.	-46.5983	9.3579	0.38177	0.1601:0.0:0.0:0.8399	.	407	Q9UL16	CCD19_HUMAN	R	407;322	ENSP00000357079:K407R;ENSP00000403044:K322R	.	K	-	2	0	CCDC19	158113102	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	2.383000	0.44354	2.079000	0.62486	0.398000	0.26397	AAG		PASS	0.552	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			3	103	3	103	---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159904551	159904551	+	Silent	SNP	T	T	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:159904551T>C	ENST00000368094.1	-	7	932	c.735A>G	c.(733-735)tcA>tcG	p.S245S	IGSF9_ENST00000493195.1_5'Flank|IGSF9_ENST00000361509.3_Silent_p.S245S	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	245	Ig-like 3.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.S245S(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGCAGGCCAATGAAACATCCT	0.567																																						uc001fur.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)	5						c.(733-735)TCA>TCG		immunoglobulin superfamily, member 9 isoform a							118.0	98.0	105.0					1																	159904551		2203	4300	6503	SO:0001819	synonymous_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159904551T>C	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.735A>G	1.37:g.159904551T>C						IGSF9_uc001fuq.2_Silent_p.S245S|IGSF9_uc001fup.2_5'Flank	p.S245S	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	933	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	245			Ig-like 3.|Extracellular (Potential).			Silent	SNP	ENST00000368094.1	37	c.735A>G	CCDS44254.1																																																																																				PASS	0.567	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		78	40	78	40	---	---	---	---
BLZF1	8548	broad.mit.edu	37	1	169349804	169349804	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:169349804A>T	ENST00000367808.3	+	5	1177	c.754A>T	c.(754-756)Agt>Tgt	p.S252C	BLZF1_ENST00000329281.2_Missense_Mutation_p.S252C			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	252					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)	p.S252C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					AGATCTCCTAAGTGAACGGGA	0.408																																						uc001gfx.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(754-756)AGT>TGT		basic leucine zipper nuclear factor 1							148.0	119.0	129.0					1																	169349804		2203	4300	6503	SO:0001583	missense	8548				cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr1:169349804A>T	U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.754A>T	1.37:g.169349804A>T	ENSP00000356782:p.Ser252Cys					BLZF1_uc001gfy.2_Missense_Mutation_p.S252C|BLZF1_uc009wvp.1_Missense_Mutation_p.S229C	p.S252C	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN			5	1191	+	all_hematologic(923;0.208)		252					O15298|Q5T531|Q5T533|Q9GZX4	Missense_Mutation	SNP	ENST00000367808.3	37	c.754A>T	CCDS1278.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.421199	0.83559	.	.	ENSG00000117475	ENST00000367808;ENST00000329281	T;T	0.34472	1.36;1.36	5.52	5.52	0.82312	.	0.380209	0.29286	N	0.012599	T	0.41994	0.1183	L	0.53249	1.67	0.34702	D	0.726857	D;D	0.71674	0.998;0.998	P;P	0.58873	0.847;0.847	T	0.45220	-0.9276	9	0.62326	D	0.03	-26.9301	15.6399	0.76989	1.0:0.0:0.0:0.0	.	252;252	A8K6R0;Q9H2G9	.;GO45_HUMAN	C	252	ENSP00000356782:S252C;ENSP00000327541:S252C	ENSP00000327541:S252C	S	+	1	0	BLZF1	167616428	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.103000	0.41806	2.088000	0.63022	0.519000	0.50382	AGT		PASS	0.408	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086109.1	NM_003666		48	134	48	134	---	---	---	---
F5	2153	broad.mit.edu	37	1	169555505	169555505	+	Silent	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:169555505G>A	ENST00000367797.3	-	1	321	c.120C>T	c.(118-120)ggC>ggT	p.G40G	F5_ENST00000546081.1_5'UTR|F5_ENST00000367796.3_Silent_p.G40G	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	40	F5/8 type A 1.|Plastocyanin-like 1.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.G40G(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TCCAACTGATGCCCTGAGCAG	0.567																																						uc001ggg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(118-120)GGC>GGT		coagulation factor V precursor	Drotrecogin alfa(DB00055)						77.0	60.0	65.0					1																	169555505		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169555505G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.120C>T	1.37:g.169555505G>A						F5_uc010plr.1_RNA	p.G40G	NM_000130	NP_000121	P12259	FA5_HUMAN			1	265	-	all_hematologic(923;0.208)		40			F5/8 type A 1.|Plastocyanin-like 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.120C>T	CCDS1281.1																																																																																				PASS	0.567	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		92	58	92	58	---	---	---	---
METTL13	51603	broad.mit.edu	37	1	171753036	171753036	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:171753036G>C	ENST00000361735.3	+	2	576	c.310G>C	c.(310-312)Gac>Cac	p.D104H	METTL13_ENST00000362019.3_Missense_Mutation_p.D18H|METTL13_ENST00000367737.5_Missense_Mutation_p.D104H|METTL13_ENST00000458517.1_Missense_Mutation_p.D103H	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	104							methyltransferase activity (GO:0008168)	p.D104H(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CTTGAAGATGGACATGACGCA	0.502																																						uc001ghz.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(310-312)GAC>CAC		CGI-01 protein isoform 1							135.0	121.0	126.0					1																	171753036		2203	4300	6503	SO:0001583	missense	51603						methyltransferase activity|protein binding	g.chr1:171753036G>C	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.310G>C	1.37:g.171753036G>C	ENSP00000354920:p.Asp104His					METTL13_uc001gia.2_Missense_Mutation_p.D18H|METTL13_uc001gib.2_Missense_Mutation_p.D104H|METTL13_uc010pml.1_Missense_Mutation_p.D103H	p.D104H	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN			2	657	+			104					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	c.310G>C	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314795	0.81358	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T;T	0.75704	-0.12;-0.12;-0.96;-0.12;-0.12	5.33	5.33	0.75918	Methyltransferase type 11 (1);	0.000000	0.85682	D	0.000000	D	0.90123	0.6914	H	0.95982	3.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.93091	0.6500	10	0.87932	D	0	-9.0437	18.6244	0.91332	0.0:0.0:1.0:0.0	.	103;104;104	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	H	103;18;104;104;21;18	ENSP00000401955:D103H;ENSP00000355393:D18H;ENSP00000356711:D104H;ENSP00000354920:D104H;ENSP00000356710:D21H	ENSP00000341732:D18H	D	+	1	0	METTL13	170019659	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.277000	0.95755	2.454000	0.82982	0.655000	0.94253	GAC		PASS	0.502	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		52	139	52	139	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175046735	175046735	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:175046735G>T	ENST00000239462.4	+	2	294	c.181G>T	c.(181-183)Gac>Tac	p.D61Y		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	61					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.D61Y(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGTTGACGCTGACCCTCAGCC	0.592																																						uc001gkl.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(181-183)GAC>TAC		tenascin N precursor							81.0	55.0	64.0					1																	175046735		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175046735G>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.181G>T	1.37:g.175046735G>T	ENSP00000239462:p.Asp61Tyr					TNN_uc010pmx.1_Missense_Mutation_p.D61Y	p.D61Y	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	2	294	+		Breast(1374;0.000962)	61					B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.181G>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268027	0.59540	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.34472	1.36	5.51	4.6	0.57074	.	0.343919	0.32175	N	0.006466	T	0.50922	0.1644	L	0.60455	1.87	0.36876	D	0.889152	P;D	0.71674	0.94;0.998	P;D	0.63033	0.708;0.91	T	0.61043	-0.7142	10	0.87932	D	0	.	10.44	0.44460	0.0733:0.1345:0.7922:0.0	.	61;61	B3KXB6;Q9UQP3	.;TENN_HUMAN	Y	61	ENSP00000239462:D61Y	ENSP00000239462:D61Y	D	+	1	0	TNN	173313358	0.998000	0.40836	0.879000	0.34478	0.798000	0.45092	3.023000	0.49666	1.347000	0.45714	0.655000	0.94253	GAC		PASS	0.592	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		40	64	40	64	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175299209	175299209	+	Splice_Site	SNP	C	C	G			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:175299209C>G	ENST00000367674.2	-	21	4502		c.e21+1		RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Splice_Site			Q92752	TENR_HUMAN	tenascin R						associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.?(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCCATAGGTACCCGCAGTGCC	0.587																																						uc001gkp.1																			1	Unknown(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.e19+1		tenascin R precursor							90.0	74.0	79.0					1																	175299209		2203	4300	6503	SO:0001630	splice_region_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175299209C>G	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3793+1G>C	1.37:g.175299209C>G						TNR_uc009wwu.1_Splice_Site_p.G1265_splice	p.G1265_splice	NM_003285	NP_003276	Q92752	TENR_HUMAN			19	3874	-	Renal(580;0.146)							C9J563|Q15568|Q5R3G0	Splice_Site	SNP	ENST00000367674.2	37	c.3793_splice	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.272970	0.40194	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3125	0.94195	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TNR	173565832	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	7.380000	0.79704	2.653000	0.90120	0.655000	0.94253	.		PASS	0.587	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	Intron	74	55	74	55	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190067447	190067447	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:190067447C>A	ENST00000367462.3	-	8	2233	c.2002G>T	c.(2002-2004)Gtg>Ttg	p.V668L	BRINP3_ENST00000534846.1_Missense_Mutation_p.V566L	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	668					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.V668L(1)									TAGCCAAACACTTGAATGTTA	0.453																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(2002-2004)GTG>TTG		family with sequence similarity 5, member C							112.0	113.0	113.0					1																	190067447		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190067447C>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2002G>T	1.37:g.190067447C>A	ENSP00000356432:p.Val668Leu					FAM5C_uc010pot.1_Missense_Mutation_p.V566L	p.V668L	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	2234	-	Prostate(682;0.198)		668					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.2002G>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855215	0.51376	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.20598	2.34;2.06	5.72	4.8	0.61643	.	0.063072	0.64402	N	0.000006	T	0.21145	0.0509	L	0.50333	1.59	0.53005	D	0.999962	B;B	0.14438	0.01;0.003	B;B	0.14023	0.01;0.003	T	0.02560	-1.1141	10	0.29301	T	0.29	.	13.7415	0.62852	0.1552:0.8448:0.0:0.0	.	566;668	B7Z260;Q76B58	.;FAM5C_HUMAN	L	668;566	ENSP00000356432:V668L;ENSP00000438022:V566L	ENSP00000356432:V668L	V	-	1	0	FAM5C	188334070	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.734000	0.84928	1.387000	0.46486	0.650000	0.86243	GTG		PASS	0.453	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		81	205	81	205	---	---	---	---
CFHR5	81494	broad.mit.edu	37	1	196965178	196965178	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:196965178C>A	ENST00000256785.4	+	6	926	c.817C>A	c.(817-819)Cct>Act	p.P273T	CFHR5_ENST00000367414.5_Missense_Mutation_p.P297T			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	273	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.P273T(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TGGATACATACCTGAACTCGA	0.338																																						uc001gts.3																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(817-819)CCT>ACT		complement factor H-related 5 precursor							127.0	121.0	123.0					1																	196965178		2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196965178C>A	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.817C>A	1.37:g.196965178C>A	ENSP00000256785:p.Pro273Thr						p.P273T	NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN			6	945	+			273			Sushi 5.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.817C>A	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.209562	0.39003	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.66995	-0.24;-0.24	3.03	3.03	0.35002	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.82098	0.4963	M	0.89658	3.05	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70226	-0.4930	9	0.27082	T	0.32	.	9.8233	0.40896	0.0:1.0:0.0:0.0	.	273	Q9BXR6	FHR5_HUMAN	T	297;273	ENSP00000356384:P297T;ENSP00000256785:P273T	ENSP00000256785:P273T	P	+	1	0	CFHR5	195231801	0.055000	0.20627	0.009000	0.14445	0.051000	0.14879	2.810000	0.47979	1.394000	0.46624	0.442000	0.29010	CCT		PASS	0.338	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		85	221	85	221	---	---	---	---
CYB5R1	51706	broad.mit.edu	37	1	202936319	202936319	+	Splice_Site	SNP	C	C	T	rs199856907		TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:202936319C>T	ENST00000367249.4	-	1	89	c.15G>A	c.(13-15)acG>acA	p.T5T	CYB5R1_ENST00000497655.1_5'Flank	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	5					sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.T5T(1)		breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	AGGGTCTTACCGTCTGGATCC	0.687																																						uc001gyt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(13-15)ACG>ACA		cytochrome b5 reductase 1				0,4406		0,0,2203	42.0	36.0	38.0		15	4.0	1.0	1		38	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	CYB5R1	NM_016243.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		5/306	202936319	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	51706				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity	g.chr1:202936319C>T	AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.15+1G>A	1.37:g.202936319C>T						CYB5R1_uc010pqe.1_RNA	p.T5T	NM_016243	NP_057327	Q9UHQ9	NB5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		1	86	-			5					A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Silent	SNP	ENST00000367249.4	37	c.15G>A	CCDS1431.1																																																																																				PASS	0.687	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	NM_016243	Silent	11	26	11	26	---	---	---	---
DSTYK	25778	broad.mit.edu	37	1	205116781	205116781	+	Silent	SNP	A	A	G			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:205116781A>G	ENST00000367162.3	-	13	2725	c.2695T>C	c.(2695-2697)Ttg>Ctg	p.L899L	DSTYK_ENST00000367160.4_Silent_p.L558L|DSTYK_ENST00000367161.3_Silent_p.L854L	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	899	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.L360L(1)|p.L899L(1)		breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						ACAATGCCCAAGAGAGGCCTC	0.532																																						uc001hbw.2																			2	Substitution - coding silent(2)		lung(2)	lung(1)	1						c.(2695-2697)TTG>CTG		receptor interacting protein kinase 5 isoform 1							129.0	129.0	129.0					1																	205116781		2203	4300	6503	SO:0001819	synonymous_variant	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205116781A>G	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.2695T>C	1.37:g.205116781A>G						DSTYK_uc001hbx.2_Silent_p.L854L	p.L899L	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN			13	2759	-			899			Protein kinase.		B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Silent	SNP	ENST00000367162.3	37	c.2695T>C	CCDS1451.1																																																																																				PASS	0.532	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		201	138	201	138	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216144034	216144034	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:216144034G>A	ENST00000307340.3	-	36	7276	c.6890C>T	c.(6889-6891)gCt>gTt	p.A2297V	USH2A_ENST00000366943.2_Missense_Mutation_p.A2297V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2297	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.A2297V(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACTCCAAGGAGCAAATCCGTA	0.413										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(6889-6891)GCT>GTT		usherin isoform B							107.0	102.0	104.0					1																	216144034		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.chr1:216144034G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6890C>T	1.37:g.216144034G>A	ENSP00000305941:p.Ala2297Val	HNSCC(13;0.011)					p.A2297V	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	36	7277	-			2297			Fibronectin type-III 9.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6890C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744565	0.69418	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52983	0.64;0.64	5.81	4.88	0.63580	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.157646	0.29126	N	0.013074	T	0.38532	0.1044	L	0.41632	1.29	0.28906	N	0.892985	P	0.38922	0.651	B	0.33521	0.165	T	0.26677	-1.0096	10	0.32370	T	0.25	.	15.8487	0.78910	0.0:0.0:0.8593:0.1407	.	2297	O75445	USH2A_HUMAN	V	2297	ENSP00000305941:A2297V;ENSP00000355910:A2297V	ENSP00000305941:A2297V	A	-	2	0	USH2A	214210657	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.745000	0.47459	1.397000	0.46682	0.591000	0.81541	GCT		PASS	0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		90	185	90	185	---	---	---	---
HIST3H2A	92815	broad.mit.edu	37	1	228645337	228645337	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:228645337G>A	ENST00000366695.2	-	1	223	c.182C>T	c.(181-183)gCc>gTc	p.A61V	HIST3H2BB_ENST00000369160.2_5'Flank	NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	61					nucleosome disassembly (GO:0006337)|UV-damage excision repair (GO:0070914)	extracellular vesicular exosome (GO:0070062)|nuclear nucleosome (GO:0000788)	DNA binding (GO:0003677)	p.A61V(1)		endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				CAGGATCTCGGCAGTCAAGTA	0.687																																						uc001hsy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(181-183)GCC>GTC		histone cluster 3, H2a							44.0	43.0	43.0					1																	228645337		2203	4299	6502	SO:0001583	missense	92815				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:228645337G>A	AY131974	CCDS1573.1	1q42.13	2011-01-27	2006-10-11		ENSG00000181218	ENSG00000181218		"""Histones / Replication-dependent"""	20507	protein-coding gene	gene with protein product		615015	"""histone 3, H2a"""			12408966	Standard	NM_033445		Approved	MGC3165	uc001hsy.3	Q7L7L0	OTTHUMG00000040046	ENST00000366695.2:c.182C>T	1.37:g.228645337G>A	ENSP00000355656:p.Ala61Val					HIST3H2BB_uc001hsz.2_5'Flank	p.A61V	NM_033445	NP_254280	Q7L7L0	H2A3_HUMAN			1	224	-		Prostate(94;0.183)	61					B2R4S4	Missense_Mutation	SNP	ENST00000366695.2	37	c.182C>T	CCDS1573.1	.	.	.	.	.	.	.	.	.	.	.	16.38	3.106500	0.56291	.	.	ENSG00000181218	ENST00000366695	T	0.67171	-0.25	4.07	4.07	0.47477	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.47852	D	0.000209	T	0.80417	0.4619	M	0.92412	3.305	0.50171	D	0.999854	D	0.62365	0.991	P	0.52267	0.694	D	0.86159	0.1592	10	0.87932	D	0	.	14.5656	0.68173	0.0:0.0:1.0:0.0	.	61	Q7L7L0	H2A3_HUMAN	V	61	ENSP00000355656:A61V	ENSP00000355656:A61V	A	-	2	0	HIST3H2A	226711960	1.000000	0.71417	0.984000	0.44739	0.036000	0.12997	9.037000	0.93765	2.549000	0.85964	0.655000	0.94253	GCC		PASS	0.687	HIST3H2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096598.1	NM_033445		4	103	4	103	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237798254	237798254	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:237798254G>A	ENST00000366574.2	+	44	7071	c.6754G>A	c.(6754-6756)Gaa>Aaa	p.E2252K	RYR2_ENST00000360064.6_Missense_Mutation_p.E2250K|RYR2_ENST00000542537.1_Missense_Mutation_p.E2236K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2252	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.E2250K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGATAATAATGAACTAGCATT	0.428																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(6754-6756)GAA>AAA		cardiac muscle ryanodine receptor							69.0	71.0	71.0					1																	237798254		1966	4151	6117	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237798254G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6754G>A	1.37:g.237798254G>A	ENSP00000355533:p.Glu2252Lys						p.E2252K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		44	6874	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2252			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6754G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	34	5.409521	0.96072	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95690	-3.78;-3.78;-3.78	4.7	4.7	0.59300	Intracellular calcium-release channel (1);	0.000000	0.64402	D	0.000006	D	0.97445	0.9164	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.98312	1.0524	10	0.87932	D	0	.	17.9754	0.89126	0.0:0.0:1.0:0.0	.	2252	Q92736	RYR2_HUMAN	K	2252;2250;2236	ENSP00000355533:E2252K;ENSP00000353174:E2250K;ENSP00000443798:E2236K	ENSP00000353174:E2250K	E	+	1	0	RYR2	235864877	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.901000	0.87382	2.296000	0.77279	0.591000	0.81541	GAA		PASS	0.428	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	17	6	17	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237921021	237921021	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:237921021C>T	ENST00000366574.2	+	82	11587	c.11270C>T	c.(11269-11271)gCt>gTt	p.A3757V	RYR2_ENST00000360064.6_Missense_Mutation_p.A3763V|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.A3741V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3757					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A3755V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGGTAGCAGCTACTCTGAAA	0.368																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(11269-11271)GCT>GTT		cardiac muscle ryanodine receptor							124.0	121.0	122.0					1																	237921021		1854	4087	5941	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237921021C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11270C>T	1.37:g.237921021C>T	ENSP00000355533:p.Ala3757Val					RYR2_uc010pya.1_Missense_Mutation_p.A172V	p.A3757V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		82	11390	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3757					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.11270C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163635	0.57476	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.90385	-2.66;-2.66;-2.66	5.33	5.33	0.75918	.	0.092272	0.44097	U	0.000491	D	0.85465	0.5703	L	0.34521	1.04	0.80722	D	1	P;B	0.37914	0.611;0.029	B;B	0.36378	0.223;0.008	D	0.85613	0.1259	10	0.45353	T	0.12	.	14.2555	0.66048	0.149:0.851:0.0:0.0	.	731;3757	B4DGV4;Q92736	.;RYR2_HUMAN	V	3757;3763;3741;731	ENSP00000355533:A3757V;ENSP00000353174:A3763V;ENSP00000443798:A3741V	ENSP00000353174:A3763V	A	+	2	0	RYR2	235987644	0.998000	0.40836	1.000000	0.80357	0.948000	0.59901	3.796000	0.55507	2.632000	0.89209	0.655000	0.94253	GCT		PASS	0.368	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		48	124	48	124	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237942003	237942003	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:237942003G>A	ENST00000366574.2	+	88	12130	c.11813G>A	c.(11812-11814)aGc>aAc	p.S3938N	RYR2_ENST00000360064.6_Missense_Mutation_p.S3944N|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.S3922N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3938					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.S3936N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGGCACACAGCAGGCTGTGG	0.448																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(11812-11814)AGC>AAC		cardiac muscle ryanodine receptor							108.0	106.0	107.0					1																	237942003		1908	4123	6031	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237942003G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11813G>A	1.37:g.237942003G>A	ENSP00000355533:p.Ser3938Asn					RYR2_uc010pya.1_Missense_Mutation_p.S353N	p.S3938N	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		88	11933	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3938					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.11813G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	33	5.274343	0.95459	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.95918	-3.85;-3.85;-3.85	5.76	5.76	0.90799	RyR/IP3R Homology associated domain (1);	0.000000	0.85682	D	0.000000	D	0.98333	0.9447	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.83275	0.996;0.989	D	0.98874	1.0767	10	0.87932	D	0	-14.0267	19.9731	0.97292	0.0:0.0:1.0:0.0	.	912;3938	B4DGV4;Q92736	.;RYR2_HUMAN	N	3938;3944;3922;912	ENSP00000355533:S3938N;ENSP00000353174:S3944N;ENSP00000443798:S3922N	ENSP00000353174:S3944N	S	+	2	0	RYR2	236008626	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	9.813000	0.99286	2.715000	0.92844	0.563000	0.77884	AGC		PASS	0.448	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		46	130	46	130	---	---	---	---
OR2C3	81472	broad.mit.edu	37	1	247695265	247695265	+	Silent	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:247695265G>T	ENST00000366487.3	-	2	910	c.549C>A	c.(547-549)ccC>ccA	p.P183P	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P182P(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GCATAATGAGGGGCATCTCGC	0.562																																						uc009xgy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(547-549)CCC>CCA		olfactory receptor, family 2, subfamily C,							78.0	72.0	74.0					1																	247695265		2203	4300	6503	SO:0001819	synonymous_variant	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695265G>T	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.549C>A	1.37:g.247695265G>T						C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	p.P183P	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	911	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	183			Extracellular (Potential).		Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	ENST00000366487.3	37	c.549C>A	CCDS1634.2																																																																																				PASS	0.562	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		39	15	39	15	---	---	---	---
OR13G1	441933	broad.mit.edu	37	1	247835993	247835993	+	Nonsense_Mutation	SNP	A	A	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:247835993A>C	ENST00000359688.2	-	1	372	c.351T>G	c.(349-351)taT>taG	p.Y117*	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y117*(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATAGCGGTCATAGGCCATGG	0.463																																						uc001idi.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(349-351)TAT>TAG		olfactory receptor, family 13, subfamily G,							95.0	79.0	84.0					1																	247835993		2203	4300	6503	SO:0001587	stop_gained	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835993A>C	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.351T>G	1.37:g.247835993A>C	ENSP00000352717:p.Tyr117*						p.Y117*	NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	351	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		117			Helical; Name=3; (Potential).		B2RN80|Q5T2T2|Q6IF86	Nonsense_Mutation	SNP	ENST00000359688.2	37	c.351T>G	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	A	17.80	3.478814	0.63849	.	.	ENSG00000197437	ENST00000359688	.	.	.	4.2	-1.93	0.07594	.	0.000000	0.39759	N	0.001267	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.454	9.0531	0.36389	0.6384:0.0:0.3616:0.0	.	.	.	.	X	117	.	ENSP00000352717:Y117X	Y	-	3	2	OR13G1	245902616	0.000000	0.05858	0.987000	0.45799	0.571000	0.35966	-0.182000	0.09726	-0.438000	0.07232	-0.400000	0.06385	TAT		PASS	0.463	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		35	82	35	82	---	---	---	---
OR1C1	26188	broad.mit.edu	37	1	247920813	247920813	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:247920813C>T	ENST00000408896.2	-	1	1169	c.896G>A	c.(895-897)aGg>aAg	p.R299K		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	299					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R299K(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTGAAGTCCCCTCTTCATATC	0.418																																						uc010pza.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(895-897)AGG>AAG		olfactory receptor, family 1, subfamily C,							150.0	140.0	143.0					1																	247920813		1917	4132	6049	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247920813C>T	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.896G>A	1.37:g.247920813C>T	ENSP00000386138:p.Arg299Lys						p.R299K	NM_012353	NP_036485	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	896	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	299			Cytoplasmic (Potential).		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.896G>A	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	C	6.819	0.520259	0.13005	.	.	ENSG00000221888	ENST00000408896	T	0.36520	1.25	3.22	-0.126	0.13515	.	.	.	.	.	T	0.18551	0.0445	N	0.12611	0.24	0.09310	N	1	B	0.12630	0.006	B	0.14023	0.01	T	0.21586	-1.0241	9	0.35671	T	0.21	.	6.88	0.24168	0.0:0.2559:0.5306:0.2135	.	299	Q15619	OR1C1_HUMAN	K	299	ENSP00000386138:R299K	ENSP00000386138:R299K	R	-	2	0	OR1C1	245987436	0.000000	0.05858	0.152000	0.22495	0.284000	0.27059	-0.824000	0.04438	-0.154000	0.11118	0.591000	0.81541	AGG		PASS	0.418	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			53	195	53	195	---	---	---	---
OR14A16	284532	broad.mit.edu	37	1	247978629	247978629	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:247978629C>A	ENST00000357627.1	-	1	402	c.403G>T	c.(403-405)Gac>Tac	p.D135Y		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D135Y(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GTGCTCCTGTCCATGATGACA	0.517																																					Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(403-405)GAC>TAC		olfactory receptor, family 14, subfamily A,							124.0	116.0	119.0					1																	247978629		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978629C>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.403G>T	1.37:g.247978629C>A	ENSP00000350248:p.Asp135Tyr						p.D135Y	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	403	-			135			Helical; Name=4; (Potential).		Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.403G>T	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	C	9.679	1.148867	0.21288	.	.	ENSG00000196772	ENST00000357627	T	0.01347	4.99	3.51	2.36	0.29203	GPCR, rhodopsin-like superfamily (1);	0.591407	0.14780	U	0.298837	T	0.02970	0.0088	M	0.72353	2.195	0.23198	N	0.998136	P	0.42757	0.789	P	0.44597	0.454	T	0.33675	-0.9859	10	0.72032	D	0.01	.	7.3454	0.26660	0.0:0.1986:0.0:0.8014	.	135	Q8NHC5	O14AG_HUMAN	Y	135	ENSP00000350248:D135Y	ENSP00000350248:D135Y	D	-	1	0	OR14A16	246045252	0.000000	0.05858	0.897000	0.35233	0.108000	0.19459	-0.200000	0.09478	0.571000	0.29365	-0.343000	0.07986	GAC		PASS	0.517	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		98	217	98	217	---	---	---	---
OR11L1	391189	broad.mit.edu	37	1	248004903	248004903	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:248004903G>A	ENST00000355784.2	-	1	351	c.296C>T	c.(295-297)gCa>gTa	p.A99V		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	99						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A99V(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTAGAGCTGTGCCATGCAGGC	0.592																																						uc001idn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(295-297)GCA>GTA		olfactory receptor, family 11, subfamily L,							65.0	54.0	57.0					1																	248004903		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004903G>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.296C>T	1.37:g.248004903G>A	ENSP00000348033:p.Ala99Val						p.A99V	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	296	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		99			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000355784.2	37	c.296C>T	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329085	0.24167	.	.	ENSG00000197591	ENST00000355784	T	0.02890	4.12	4.2	2.31	0.28768	GPCR, rhodopsin-like superfamily (1);	1.741080	0.03820	U	0.267422	T	0.04003	0.0112	L	0.41824	1.3	0.09310	N	1	B	0.09022	0.002	B	0.15484	0.013	T	0.48864	-0.8997	10	0.16896	T	0.51	.	10.8503	0.46767	0.1703:0.0:0.8297:0.0	.	99	Q8NGX0	O11L1_HUMAN	V	99	ENSP00000348033:A99V	ENSP00000348033:A99V	A	-	2	0	OR11L1	246071526	0.000000	0.05858	0.031000	0.17742	0.927000	0.56198	-0.390000	0.07332	1.108000	0.41662	0.543000	0.68304	GCA		PASS	0.592	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		18	43	18	43	---	---	---	---
OR2L13	284521	broad.mit.edu	37	1	248263567	248263567	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:248263567T>C	ENST00000358120.2	+	2	1035	c.890T>C	c.(889-891)cTg>cCg	p.L297P	OR2L13_ENST00000366478.2_Missense_Mutation_p.L297P			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L297P(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)			AAGGAAGTCCTGGGGGCTATG	0.473																																						uc001ids.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(889-891)CTG>CCG		olfactory receptor, family 2, subfamily L,							52.0	54.0	54.0					1																	248263567		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263567T>C	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.890T>C	1.37:g.248263567T>C	ENSP00000350836:p.Leu297Pro						p.L297P	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	1227	+	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)		297			Cytoplasmic (Potential).		Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.890T>C	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	T	8.664	0.901265	0.17760	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.37752	1.18;1.18	4.21	3.0	0.34707	.	0.221517	0.22670	N	0.057065	T	0.49490	0.1560	M	0.64997	1.995	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.25950	-1.0117	10	0.52906	T	0.07	.	4.7217	0.12922	0.3024:0.0:0.1616:0.5359	.	297	Q8N349	OR2LD_HUMAN	P	297	ENSP00000355434:L297P;ENSP00000350836:L297P	ENSP00000350836:L297P	L	+	2	0	OR2L13	246330190	0.000000	0.05858	0.219000	0.23793	0.045000	0.14185	0.025000	0.13577	1.736000	0.51660	0.528000	0.53228	CTG		PASS	0.473	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		76	59	76	59	---	---	---	---
OR2M5	127059	broad.mit.edu	37	1	248309138	248309138	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:248309138C>A	ENST00000366476.1	+	1	689	c.689C>A	c.(688-690)tCt>tAt	p.S230Y		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S230Y(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CACATGGGATCTGGAGAGGGT	0.448																																						uc010pze.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(688-690)TCT>TAT		olfactory receptor, family 2, subfamily M,							270.0	258.0	262.0					1																	248309138		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309138C>A		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.689C>A	1.37:g.248309138C>A	ENSP00000355432:p.Ser230Tyr						p.S230Y	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	689	+	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)		230			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000366476.1	37	c.689C>A	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	12.84	2.059063	0.36373	.	.	ENSG00000162727	ENST00000366476	T	0.00337	8.05	3.28	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31167	U	0.008122	T	0.01320	0.0043	H	0.97587	4.035	0.20403	N	0.999907	D	0.56746	0.977	D	0.65323	0.934	T	0.09422	-1.0675	10	0.87932	D	0	.	14.4562	0.67418	0.0:1.0:0.0:0.0	.	230	A3KFT3	OR2M5_HUMAN	Y	230	ENSP00000355432:S230Y	ENSP00000355432:S230Y	S	+	2	0	OR2M5	246375761	0.000000	0.05858	0.015000	0.15790	0.277000	0.26821	0.706000	0.25690	1.528000	0.49103	0.492000	0.49549	TCT		PASS	0.448	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		422	298	422	298	---	---	---	---
OR2T33	391195	broad.mit.edu	37	1	248437007	248437007	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:248437007A>T	ENST00000318021.2	-	1	131	c.110T>A	c.(109-111)cTg>cAg	p.L37Q		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L37Q(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTGCCAAACAGGGAGGTCAA	0.488																																						uc010pzi.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(109-111)CTG>CAG		olfactory receptor, family 2, subfamily T,							34.0	36.0	36.0					1																	248437007		2199	4276	6475	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248437007A>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.110T>A	1.37:g.248437007A>T	ENSP00000324687:p.Leu37Gln						p.L37Q	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	110	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		37			Helical; Name=1; (Potential).		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.110T>A	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	15.55	2.866037	0.51588	.	.	ENSG00000177212	ENST00000318021	T	0.00563	6.58	2.7	2.7	0.31948	.	0.307615	0.17532	U	0.170832	T	0.02533	0.0077	M	0.91300	3.195	0.09310	N	1	D	0.76494	0.999	D	0.67231	0.95	T	0.10753	-1.0616	10	0.72032	D	0.01	.	10.997	0.47582	1.0:0.0:0.0:0.0	.	37	Q8NG76	O2T33_HUMAN	Q	37	ENSP00000324687:L37Q	ENSP00000324687:L37Q	L	-	2	0	OR2T33	246503630	0.119000	0.22226	0.002000	0.10522	0.045000	0.14185	4.467000	0.60155	1.178000	0.42870	0.404000	0.27445	CTG		PASS	0.488	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		61	169	61	169	---	---	---	---
OR2T4	127074	broad.mit.edu	37	1	248525905	248525905	+	Silent	SNP	T	T	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:248525905T>A	ENST00000366475.1	+	1	1023	c.1023T>A	c.(1021-1023)ccT>ccA	p.P341P		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	341						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P341P(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGTGGAACCTGCCTTTCAAA	0.388																																						uc001ieh.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1021-1023)CCT>CCA		olfactory receptor, family 2, subfamily T,							94.0	98.0	97.0					1																	248525905		2203	4300	6503	SO:0001819	synonymous_variant	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525905T>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.1023T>A	1.37:g.248525905T>A							p.P341P	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	1023	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		341			Cytoplasmic (Potential).		Q6IEZ8	Silent	SNP	ENST00000366475.1	37	c.1023T>A	CCDS31113.1																																																																																				PASS	0.388	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		94	207	94	207	---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8952524	8952524	+	Splice_Site	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:8952524C>T	ENST00000256707.3	-	6	686		c.e6+1		KIDINS220_ENST00000319688.5_Splice_Site|KIDINS220_ENST00000473731.1_Splice_Site|KIDINS220_ENST00000418530.1_Splice_Site|KIDINS220_ENST00000427284.1_Splice_Site	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa						activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGCTGACCTACCTTATCAGAG	0.398																																						uc002qzc.2																			1	Unknown(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.e6+1		kinase D-interacting substrate of 220 kDa							98.0	93.0	95.0					2																	8952524		1960	4148	6108	SO:0001630	splice_region_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8952524C>T	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.504+1G>A	2.37:g.8952524C>T						KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Splice_Site_p.K126_splice|KIDINS220_uc010yiw.1_Splice_Site_p.K169_splice	p.K168_splice	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			6	686	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)							A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Splice_Site	SNP	ENST00000256707.3	37	c.504_splice	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791845	0.90453	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.558	0.95361	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIDINS220	8869975	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.398000	0.79919	2.697000	0.92050	0.655000	0.94253	.		PASS	0.398	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738	Intron	32	94	32	94	---	---	---	---
APOB	338	broad.mit.edu	37	2	21230036	21230036	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:21230036G>T	ENST00000233242.1	-	26	9831	c.9704C>A	c.(9703-9705)gCt>gAt	p.A3235D		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3235	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.A3235D(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGATTTTTCAGCTTTGTACTT	0.363																																						uc002red.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(9703-9705)GCT>GAT		apolipoprotein B precursor	Atorvastatin(DB01076)						47.0	48.0	48.0					2																	21230036		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230036G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9704C>A	2.37:g.21230036G>T	ENSP00000233242:p.Ala3235Asp						p.A3235D	NM_000384	NP_000375	P04114	APOB_HUMAN			26	9832	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3235			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.9704C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524410	0.27299	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.37411	1.2	4.38	1.95	0.26073	.	0.748949	0.11384	N	0.569526	T	0.31009	0.0783	L	0.49126	1.545	0.80722	D	1	P	0.42993	0.797	B	0.39299	0.296	T	0.06463	-1.0825	10	0.72032	D	0.01	.	6.7803	0.23642	0.772:0.0:0.228:0.0	.	3235	P04114	APOB_HUMAN	D	3235	ENSP00000233242:A3235D	ENSP00000233242:A3235D	A	-	2	0	APOB	21083541	1.000000	0.71417	0.623000	0.29173	0.325000	0.28411	3.262000	0.51538	0.101000	0.17610	-0.471000	0.05019	GCT		PASS	0.363	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			47	103	47	103	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26696918	26696918	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:26696918C>A	ENST00000272371.2	-	27	3475	c.3349G>T	c.(3349-3351)Ggt>Tgt	p.G1117C	OTOF_ENST00000402415.3_Missense_Mutation_p.G427C|OTOF_ENST00000339598.3_Missense_Mutation_p.G370C|OTOF_ENST00000403946.3_Missense_Mutation_p.G1117C|OTOF_ENST00000338581.6_Missense_Mutation_p.G370C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1117					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.G427C(1)|p.G1117C(1)|p.G370C(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGATGGGACCTCGGTCCACG	0.647																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(3349-3351)GGT>TGT		otoferlin isoform a							62.0	63.0	63.0					2																	26696918		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26696918C>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3349G>T	2.37:g.26696918C>A	ENSP00000272371:p.Gly1117Cys					OTOF_uc010yla.1_5'Flank|OTOF_uc002rhh.2_Missense_Mutation_p.G370C|OTOF_uc002rhi.2_Missense_Mutation_p.G427C|OTOF_uc002rhj.2_Missense_Mutation_p.G370C	p.G1117C	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			27	3476	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1117			Cytoplasmic (Potential).		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.3349G>T	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	c	33	5.260549	0.95368	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;D;D	0.81908	-1.28;-1.28;-1.28;-1.55;-1.55	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.91888	0.7432	M	0.82056	2.57	0.80722	D	1	D;D;D;B	0.89917	1.0;1.0;1.0;0.364	D;D;D;B	0.97110	1.0;0.973;1.0;0.384	D	0.92047	0.5645	10	0.66056	D	0.02	-27.0915	19.5586	0.95363	0.0:1.0:0.0:0.0	.	1117;370;427;370	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	C	370;370;427;1117;1117	ENSP00000345137:G370C;ENSP00000344521:G370C;ENSP00000383906:G427C;ENSP00000272371:G1117C;ENSP00000385255:G1117C	ENSP00000272371:G1117C	G	-	1	0	OTOF	26550422	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.854000	0.69503	2.725000	0.93324	0.550000	0.68814	GGT		PASS	0.647	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			113	70	113	70	---	---	---	---
ZNF512	84450	broad.mit.edu	37	2	27826121	27826121	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:27826121C>T	ENST00000355467.4	+	9	966	c.883C>T	c.(883-885)Cca>Tca	p.P295S	ZNF512_ENST00000416005.2_Missense_Mutation_p.P266S|ZNF512_ENST00000413371.2_Missense_Mutation_p.P218S|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Missense_Mutation_p.P164S|ZNF512_ENST00000379717.1_Missense_Mutation_p.P294S	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	295					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P295S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					CTGTGGAAAACCATATAGGTC	0.488																																						uc002rla.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(883-885)CCA>TCA		zinc finger protein 512							165.0	161.0	163.0					2																	27826121		2203	4300	6503	SO:0001583	missense	84450				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:27826121C>T	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.883C>T	2.37:g.27826121C>T	ENSP00000347648:p.Pro295Ser					ZNF512_uc010ylv.1_Missense_Mutation_p.P216S|ZNF512_uc010ylw.1_Missense_Mutation_p.P266S|ZNF512_uc002rlb.2_Missense_Mutation_p.P216S|ZNF512_uc010ylx.1_Missense_Mutation_p.P216S|ZNF512_uc002rlc.2_Missense_Mutation_p.P216S|ZNF512_uc010yly.1_RNA|ZNF512_uc010ylz.1_Missense_Mutation_p.P188S	p.P295S	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN			9	970	+	Acute lymphoblastic leukemia(172;0.155)		295			C2H2-type 2.		B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Missense_Mutation	SNP	ENST00000355467.4	37	c.883C>T	CCDS1758.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891494	0.52014	.	.	ENSG00000243943	ENST00000379717;ENST00000355467;ENST00000556601;ENST00000416005;ENST00000413371	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	6.17	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.243299	0.40469	N	0.001084	T	0.26919	0.0659	N	0.20766	0.605	0.36519	D	0.870029	P;P;P	0.38300	0.626;0.454;0.454	B;B;B	0.37833	0.259;0.192;0.192	T	0.18398	-1.0338	10	0.12766	T	0.61	-4.5657	13.0823	0.59121	0.0:0.5614:0.4386:0.0	.	190;266;295	B4DES6;B4DSM5;Q96ME7	.;.;ZN512_HUMAN	S	294;295;164;266;218	ENSP00000369040:P294S;ENSP00000347648:P295S;ENSP00000451572:P164S;ENSP00000407038:P266S;ENSP00000395660:P218S	ENSP00000347648:P295S	P	+	1	0	ZNF512	27679625	1.000000	0.71417	0.947000	0.38551	0.995000	0.86356	1.604000	0.36804	1.565000	0.49641	0.655000	0.94253	CCA		PASS	0.488	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2	NM_032434		93	245	93	245	---	---	---	---
SRBD1	55133	broad.mit.edu	37	2	45704186	45704186	+	Silent	SNP	T	T	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:45704186T>A	ENST00000263736.4	-	16	2057	c.1995A>T	c.(1993-1995)ccA>ccT	p.P665P	SRBD1_ENST00000535761.1_Silent_p.P184P	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	665					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)	p.P665P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GCTCAGCTAATGGATCTTGTA	0.338																																						uc002rus.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1993-1995)CCA>CCT		S1 RNA binding domain 1							124.0	106.0	112.0					2																	45704186		2203	4300	6503	SO:0001819	synonymous_variant	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45704186T>A	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1995A>T	2.37:g.45704186T>A						SRBD1_uc010yoc.1_Silent_p.P184P	p.P665P	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		16	2071	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	665					Q53T56|Q96TA4|Q9NW11	Silent	SNP	ENST00000263736.4	37	c.1995A>T	CCDS1823.1																																																																																				PASS	0.338	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		65	53	65	53	---	---	---	---
VRK2	7444	broad.mit.edu	37	2	58350361	58350361	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:58350361G>T	ENST00000435505.2	+	11	1414	c.669G>T	c.(667-669)aaG>aaT	p.K223N	VRK2_ENST00000412104.2_Missense_Mutation_p.K223N|VRK2_ENST00000340157.4_Missense_Mutation_p.K223N|VRK2_ENST00000417641.2_Missense_Mutation_p.K223N|VRK2_ENST00000440705.2_Missense_Mutation_p.K200N			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	223	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K223N(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						ATGCCCACAAGGGAGTAGGTG	0.393																																						uc002rzo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(667-669)AAG>AAT		vaccinia related kinase 2 isoform 2							88.0	86.0	87.0					2																	58350361		2203	4300	6503	SO:0001583	missense	7444					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:58350361G>T	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.669G>T	2.37:g.58350361G>T	ENSP00000408002:p.Lys223Asn					VRK2_uc010fcb.2_Missense_Mutation_p.K223N|VRK2_uc002rzs.2_Missense_Mutation_p.K223N|VRK2_uc002rzr.2_Missense_Mutation_p.K223N|VRK2_uc010fcc.2_Missense_Mutation_p.K105N|VRK2_uc002rzv.2_Missense_Mutation_p.K223N|VRK2_uc010fcd.2_Missense_Mutation_p.K200N|VRK2_uc002rzp.2_Missense_Mutation_p.K223N|VRK2_uc010ypg.1_Missense_Mutation_p.K223N|VRK2_uc002rzq.2_Missense_Mutation_p.K223N|VRK2_uc002rzu.2_Missense_Mutation_p.K223N|VRK2_uc002rzt.2_Missense_Mutation_p.K105N|VRK2_uc010yph.1_Missense_Mutation_p.K105N	p.K223N	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN			11	1414	+			223			Protein kinase.		B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Missense_Mutation	SNP	ENST00000435505.2	37	c.669G>T	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.346132	0.41599	.	.	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000423109;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000440705	T;T;T;T;T	0.06371	3.31;3.31;3.31;3.31;3.31	5.72	4.83	0.62350	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.179946	0.64402	D	0.000013	T	0.14700	0.0355	L	0.42744	1.35	0.53688	D	0.999973	D;P;B;B	0.61697	0.99;0.932;0.001;0.075	P;P;B;B	0.59546	0.859;0.673;0.017;0.078	T	0.01367	-1.1373	10	0.41790	T	0.15	-14.5193	13.8112	0.63264	0.0748:0.0:0.9252:0.0	.	227;223;223;223	B7Z2X1;Q86Y07-2;Q86Y07-5;Q86Y07	.;.;.;VRK2_HUMAN	N	223;223;227;223;223;223;200	ENSP00000408002:K223N;ENSP00000402375:K223N;ENSP00000404156:K223N;ENSP00000342381:K223N;ENSP00000398323:K200N	ENSP00000342381:K223N	K	+	3	2	VRK2	58203865	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.326000	0.43849	1.380000	0.46344	0.585000	0.79938	AAG		PASS	0.393	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296		73	207	73	207	---	---	---	---
WDR92	116143	broad.mit.edu	37	2	68361898	68361898	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:68361898G>T	ENST00000295121.6	-	7	918	c.802C>A	c.(802-804)Ctg>Atg	p.L268M	RP11-474G23.1_ENST00000406334.3_3'UTR|WDR92_ENST00000409164.1_Missense_Mutation_p.L268M|WDR92_ENST00000406245.2_Missense_Mutation_p.L167M|WDR92_ENST00000492039.2_5'UTR	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	268					apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968)		methylated histone binding (GO:0035064)	p.L268M(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						TTCTGCGGCAGGTGTCGGACC	0.507																																						uc002see.1																			1	Substitution - Missense(1)		lung(1)		0						c.(802-804)CTG>ATG		monad							34.0	39.0	38.0					2																	68361898		2203	4300	6503	SO:0001583	missense	116143				apoptosis|histone lysine methylation		methylated histone residue binding	g.chr2:68361898G>T	AK056303	CCDS1884.1, CCDS58712.1	2p14	2013-01-09			ENSG00000243667	ENSG00000243667		"""WD repeat domain containing"""	25176	protein-coding gene	gene with protein product		610729				16487927	Standard	NM_138458		Approved	FLJ31741, Monad	uc002see.2	Q96MX6	OTTHUMG00000152561	ENST00000295121.6:c.802C>A	2.37:g.68361898G>T	ENSP00000295121:p.Leu268Met					WDR92_uc002sed.1_RNA|WDR92_uc002sef.1_Missense_Mutation_p.L268M|WDR92_uc002seg.1_Missense_Mutation_p.L167M	p.L268M	NM_138458	NP_612467	Q96MX6	WDR92_HUMAN			7	883	-			268			WD 5.		Q96CR6	Missense_Mutation	SNP	ENST00000295121.6	37	c.802C>A	CCDS1884.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.899132	0.72754	.	.	ENSG00000243667	ENST00000295121;ENST00000406245;ENST00000409164	T;T;T	0.66815	1.54;1.54;-0.23	5.65	3.83	0.44106	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.51477	D	0.000082	T	0.81842	0.4908	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.82991	-0.0182	10	0.51188	T	0.08	.	11.0109	0.47663	0.1315:0.0:0.8685:0.0	.	268	Q96MX6	WDR92_HUMAN	M	268;167;268	ENSP00000295121:L268M;ENSP00000384518:L167M;ENSP00000386746:L268M	ENSP00000295121:L268M	L	-	1	2	WDR92	68215402	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.591000	0.46163	2.668000	0.90789	0.655000	0.94253	CTG		PASS	0.507	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251754.2	NM_138458		24	40	24	40	---	---	---	---
CD207	50489	broad.mit.edu	37	2	71058916	71058916	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:71058916T>C	ENST00000410009.3	-	5	797	c.752A>G	c.(751-753)tAc>tGc	p.Y251C		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	251	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				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)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)	p.Y251C(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GCCAATCCAGTAGATGAGTCC	0.537																																						uc002shg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(751-753)TAC>TGC		CD207 antigen, langerin							119.0	124.0	122.0					2																	71058916		1995	4154	6149	SO:0001583	missense	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71058916T>C	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.752A>G	2.37:g.71058916T>C	ENSP00000386378:p.Tyr251Cys						p.Y251C	NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN			5	799	-			251			C-type lectin.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000410009.3	37	c.752A>G		.	.	.	.	.	.	.	.	.	.	T	10.54	1.378086	0.24944	.	.	ENSG00000116031	ENST00000410009	T	0.20200	2.09	4.78	0.922	0.19408	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.832108	0.10352	N	0.684994	T	0.23611	0.0571	M	0.78344	2.41	0.09310	N	1	B	0.33964	0.434	B	0.36289	0.221	T	0.26155	-1.0111	10	0.38643	T	0.18	.	3.441	0.07463	0.1661:0.1884:0.0:0.6455	.	251	Q9UJ71	CLC4K_HUMAN	C	251	ENSP00000386378:Y251C	ENSP00000386378:Y251C	Y	-	2	0	CD207	70912424	0.101000	0.21875	0.054000	0.19295	0.108000	0.19459	0.090000	0.15025	-0.018000	0.14079	-0.269000	0.10298	TAC		PASS	0.537	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		59	154	59	154	---	---	---	---
AFF3	3899	broad.mit.edu	37	2	100194833	100194833	+	Silent	SNP	G	G	A	rs372813543		TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:100194833G>A	ENST00000409236.2	-	16	2986	c.2874C>T	c.(2872-2874)aaC>aaT	p.N958N	AFF3_ENST00000409579.1_Silent_p.N983N|AFF3_ENST00000356421.2_Silent_p.N983N|AFF3_ENST00000317233.4_Silent_p.N958N			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	958					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.N983N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CCCTGTGGCCGTTGGAGCCTG	0.493																																						uc002tag.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(2872-2874)AAC>AAT		AF4/FMR2 family, member 3 isoform 1		G	,	0,4406		0,0,2203	145.0	150.0	148.0		2949,2874	-4.7	0.6	2		148	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	AFF3	NM_001025108.1,NM_002285.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	983/1252,958/1227	100194833	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100194833G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2874C>T	2.37:g.100194833G>A						AFF3_uc002taf.2_Silent_p.N983N	p.N958N	NM_002285	NP_002276	P51826	AFF3_HUMAN			17	3110	-			958					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.2874C>T	CCDS42723.1																																																																																				PASS	0.493	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		103	354	103	354	---	---	---	---
MRPS9	64965	broad.mit.edu	37	2	105654683	105654683	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:105654683C>A	ENST00000258455.3	+	1	243	c.133C>A	c.(133-135)Cag>Aag	p.Q45K	AC010884.1_ENST00000456519.1_RNA	NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	45					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.Q45K(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TGTCAGATCCCAGGTAAGGCC	0.622																																						uc002tcn.3																			1	Substitution - Missense(1)		lung(1)		0						c.(133-135)CAG>AAG		mitochondrial ribosomal protein S9 precursor							20.0	19.0	19.0					2																	105654683		2203	4300	6503	SO:0001583	missense	64965				DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr2:105654683C>A		CCDS2065.1	2q12.1	2012-09-13			ENSG00000135972	ENSG00000135972		"""Mitochondrial ribosomal proteins / small subunits"""	14501	protein-coding gene	gene with protein product	"""28S ribosomal protein S9, mitochondrial"""	611975				11279123	Standard	NM_182640		Approved	RPMS9, MRP-S9, S9mt	uc002tcn.4	P82933	OTTHUMG00000130807	ENST00000258455.3:c.133C>A	2.37:g.105654683C>A	ENSP00000258455:p.Gln45Lys						p.Q45K	NM_182640	NP_872578	P82933	RT09_HUMAN			1	201	+			45					Q6PG40	Missense_Mutation	SNP	ENST00000258455.3	37	c.133C>A	CCDS2065.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481664	0.44147	.	.	ENSG00000135972	ENST00000258455	T	0.42513	0.97	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.44561	0.1299	M	0.74881	2.28	0.35040	D	0.759665	B	0.14805	0.011	B	0.10450	0.005	T	0.56962	-0.7892	10	0.56958	D	0.05	-16.5821	13.0803	0.59109	0.0:1.0:0.0:0.0	.	45	P82933	RT09_HUMAN	K	45	ENSP00000258455:Q45K	ENSP00000258455:Q45K	Q	+	1	0	MRPS9	105021115	0.990000	0.36364	0.970000	0.41538	0.352000	0.29268	3.186000	0.50942	2.523000	0.85059	0.563000	0.77884	CAG		PASS	0.622	MRPS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253352.1	NM_182640		10	24	10	24	---	---	---	---
GTDC1	79712	broad.mit.edu	37	2	144764848	144764848	+	Missense_Mutation	SNP	T	T	G			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:144764848T>G	ENST00000392869.2	-	6	928	c.776A>C	c.(775-777)cAt>cCt	p.H259P	GTDC1_ENST00000392867.3_Missense_Mutation_p.H259P|GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000542155.1_Missense_Mutation_p.H259P|GTDC1_ENST00000241391.5_Missense_Mutation_p.H259P|GTDC1_ENST00000463875.2_Missense_Mutation_p.H130P|GTDC1_ENST00000409214.1_Missense_Mutation_p.H259P|GTDC1_ENST00000344850.4_Missense_Mutation_p.H259P	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	259					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)	p.H259P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		ATTTTCACCATGATGAGAGCT	0.413																																						uc002tvp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(775-777)CAT>CCT		glycosyltransferase-like domain containing 1							122.0	116.0	118.0					2																	144764848		2203	4300	6503	SO:0001583	missense	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144764848T>G	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.776A>C	2.37:g.144764848T>G	ENSP00000376608:p.His259Pro					GTDC1_uc002tvo.2_Missense_Mutation_p.H259P|GTDC1_uc002tvq.2_Intron|GTDC1_uc002tvr.2_Missense_Mutation_p.H259P|GTDC1_uc010fnn.2_Missense_Mutation_p.H259P|GTDC1_uc002tvs.2_Missense_Mutation_p.H227P|GTDC1_uc010fno.2_Missense_Mutation_p.H130P|GTDC1_uc002tvt.1_Missense_Mutation_p.H259P	p.H259P	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	7	1055	-			259					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	c.776A>C	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.455529	0.43634	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000463875	T;T;T;T;T;T;T	0.44083	0.95;0.95;0.94;0.95;0.94;0.95;0.93	5.66	-5.65	0.02459	.	0.939817	0.09136	N	0.843731	T	0.26919	0.0659	L	0.51422	1.61	0.09310	N	1	B;B;B;B	0.31790	0.001;0.0;0.0;0.34	B;B;B;B	0.31686	0.001;0.0;0.0;0.134	T	0.16276	-1.0408	10	0.36615	T	0.2	-9.8642	0.9173	0.01307	0.1841:0.1782:0.1973:0.4404	.	259;259;259;259	G1UFN1;Q4AE62-2;Q4AE62;Q4AE62-3	.;.;GTDC1_HUMAN;.	P	259;259;259;259;259;259;130	ENSP00000376608:H259P;ENSP00000386581:H259P;ENSP00000376606:H259P;ENSP00000438323:H259P;ENSP00000241391:H259P;ENSP00000339750:H259P;ENSP00000437964:H130P	ENSP00000241391:H259P	H	-	2	0	GTDC1	144481318	0.012000	0.17670	0.000000	0.03702	0.636000	0.38137	-0.076000	0.11412	-1.670000	0.01468	-1.139000	0.01908	CAT		PASS	0.413	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		65	117	65	117	---	---	---	---
PRPF40A	55660	broad.mit.edu	37	2	153519149	153519149	+	Nonsense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:153519149G>A	ENST00000410080.1	-	21	2831	c.2290C>T	c.(2290-2292)Cga>Tga	p.R764*		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	791	FF 6.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R660*(1)|p.R791*(1)|p.R764*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TTAAATATTCGTTTTCTTTCA	0.264																																						uc002tyh.3																			3	Substitution - Nonsense(3)		lung(3)		0						c.(2290-2292)CGA>TGA		formin binding protein 3							45.0	44.0	44.0					2																	153519149		1780	4055	5835	SO:0001587	stop_gained	55660				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding	g.chr2:153519149G>A	AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"""formin-binding protein 3"", ""formin binding protein 3"", ""PRP40 pre-mRNA processing factor 40 homolog A (yeast)"""	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.2290C>T	2.37:g.153519149G>A	ENSP00000386458:p.Arg764*					PRPF40A_uc002tyg.3_Nonsense_Mutation_p.R220*|PRPF40A_uc010zcd.1_Nonsense_Mutation_p.R715*	p.R764*	NM_017892	NP_060362	O75400	PR40A_HUMAN			21	2312	-			791			FF 5.		O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Nonsense_Mutation	SNP	ENST00000410080.1	37	c.2290C>T	CCDS46430.1	.	.	.	.	.	.	.	.	.	.	G	44	10.794523	0.99469	.	.	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252;ENST00000359961	.	.	.	5.5	2.16	0.27623	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2964	8.9268	0.35646	0.0:0.0937:0.2268:0.6795	.	.	.	.	X	764;773;660;715	.	ENSP00000348770:R773X	R	-	1	2	PRPF40A	153227395	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.132000	0.57977	0.563000	0.29222	-0.181000	0.13052	CGA		PASS	0.264	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333559.2	XM_371575		9	20	9	20	---	---	---	---
SCN7A	6332	broad.mit.edu	37	2	167327160	167327160	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:167327160G>C	ENST00000409855.1	-	6	755	c.629C>G	c.(628-630)aCt>aGt	p.T210S		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	210					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.T210S(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AATTCTCAAAGTTCTTGCAGT	0.299																																						uc002udu.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(628-630)ACT>AGT		sodium channel, voltage-gated, type VII, alpha							38.0	38.0	38.0					2																	167327160		1802	4061	5863	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167327160G>C	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.629C>G	2.37:g.167327160G>C	ENSP00000386796:p.Thr210Ser					SCN7A_uc010fpm.1_RNA	p.T210S	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			6	756	-			210			Helical; Voltage-sensor; Name=S4 of repeat I; (By similarity).			Missense_Mutation	SNP	ENST00000409855.1	37	c.629C>G	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144404	0.57044	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98512	-4.97;-4.97;-4.97	4.62	-2.23	0.06930	Ion transport (1);	0.478571	0.19535	N	0.111945	D	0.93861	0.8036	L	0.40543	1.245	0.20307	N	0.999914	B	0.18461	0.028	B	0.19666	0.026	D	0.86838	0.2015	10	0.66056	D	0.02	.	1.1164	0.01715	0.2834:0.3621:0.1665:0.188	.	210	Q01118	SCN7A_HUMAN	S	210	ENSP00000386796:T210S;ENSP00000413699:T210S;ENSP00000403846:T210S	ENSP00000259060:T210S	T	-	2	0	SCN7A	167035406	1.000000	0.71417	0.837000	0.33122	0.910000	0.53928	2.437000	0.44828	-0.304000	0.08843	0.563000	0.77884	ACT		PASS	0.299	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			23	31	23	31	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168103567	168103567	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:168103567G>T	ENST00000409195.1	+	9	5754	c.5665G>T	c.(5665-5667)Gat>Tat	p.D1889Y	XIRP2_ENST00000409273.1_Missense_Mutation_p.D1667Y|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1889Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1714					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.D1889Y(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAAACAGCCTGATGCCATCCC	0.368																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(5665-5667)GAT>TAT		xin actin-binding repeat containing 2 isoform 1							81.0	73.0	75.0					2																	168103567		1880	4119	5999	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103567G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5665G>T	2.37:g.168103567G>T	ENSP00000386840:p.Asp1889Tyr					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D1714Y|XIRP2_uc010fpq.2_Missense_Mutation_p.D1667Y|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.D1889Y	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	5683	+			1714					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.5665G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.676741	0.29783	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02763	4.17;4.17;4.17	5.33	-0.179	0.13299	.	0.632242	0.17083	N	0.187683	T	0.06416	0.0165	L	0.53249	1.67	0.20403	N	0.999905	P;D;D	0.56035	0.956;0.974;0.974	P;P;P	0.56514	0.635;0.8;0.8	T	0.19976	-1.0289	10	0.72032	D	0.01	0.1938	6.0388	0.19722	0.3083:0.1495:0.5423:0.0	.	1714;1714;1667	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	1889;1889;1667	ENSP00000386840:D1889Y;ENSP00000295237:D1889Y;ENSP00000387255:D1667Y	ENSP00000295237:D1889Y	D	+	1	0	XIRP2	167811813	0.004000	0.15560	0.000000	0.03702	0.601000	0.36947	1.280000	0.33202	-0.281000	0.09141	0.557000	0.71058	GAT		PASS	0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		51	68	51	68	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168103615	168103615	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:168103615G>C	ENST00000409195.1	+	9	5802	c.5713G>C	c.(5713-5715)Gct>Cct	p.A1905P	XIRP2_ENST00000409273.1_Missense_Mutation_p.A1683P|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.A1905P	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1730					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.A1905P(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCTTGAAAAAGCTACAAATAC	0.368																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(5713-5715)GCT>CCT		xin actin-binding repeat containing 2 isoform 1							63.0	57.0	59.0					2																	168103615		1841	4094	5935	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103615G>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5713G>C	2.37:g.168103615G>C	ENSP00000386840:p.Ala1905Pro					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.A1730P|XIRP2_uc010fpq.2_Missense_Mutation_p.A1683P|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.A1905P	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	5731	+			1730					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.5713G>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132512	0.56828	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03358	3.99;3.99;3.96	5.46	3.53	0.40419	.	0.239336	0.42682	D	0.000665	T	0.09774	0.0240	L	0.53249	1.67	0.47511	D	0.999444	D;D;D	0.63046	0.987;0.992;0.979	P;P;P	0.61800	0.786;0.894;0.839	T	0.04509	-1.0946	10	0.49607	T	0.09	-6.4118	7.0607	0.25123	0.2531:0.0:0.7469:0.0	.	1730;1730;1683	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	P	1905;1905;1683	ENSP00000386840:A1905P;ENSP00000295237:A1905P;ENSP00000387255:A1683P	ENSP00000295237:A1905P	A	+	1	0	XIRP2	167811861	1.000000	0.71417	0.988000	0.46212	0.982000	0.71751	3.095000	0.50235	0.658000	0.30925	0.650000	0.86243	GCT		PASS	0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		35	56	35	56	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179400408	179400408	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:179400408A>G	ENST00000591111.1	-	308	96235	c.96011T>C	c.(96010-96012)aTt>aCt	p.I32004T	TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I31077T|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I24580T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I24705T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I24772T|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I33645T			Q8WZ42	TITIN_HUMAN	titin	32004	Ig-like 142.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I24772T(1)|p.I31077T(1)|p.I31075T(1)|p.I24580T(1)|p.I24705T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTGTGACAATAACTTGGTA	0.423																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(93229-93231)ATT>ACT		titin isoform N2-A							175.0	175.0	175.0					2																	179400408		1944	4138	6082	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179400408A>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.96011T>C	2.37:g.179400408A>G	ENSP00000465570:p.Ile32004Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I24772T|TTN_uc010zfi.1_Missense_Mutation_p.I24705T|TTN_uc010zfj.1_Missense_Mutation_p.I24580T	p.I31077T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	93454	-			32004					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.93230T>C		.	.	.	.	.	.	.	.	.	.	A	14.81	2.647874	0.47258	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.3	5.3	0.74995	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68439	0.3001	N	0.25286	0.73	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.73404	-0.3993	9	0.87932	D	0	.	15.5387	0.76024	1.0:0.0:0.0:0.0	.	24580;24705;24772;32004	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	31077;24580;24772;24705;24577	ENSP00000343764:I31077T;ENSP00000434586:I24580T;ENSP00000340554:I24772T;ENSP00000352154:I24705T	ENSP00000340554:I24772T	I	-	2	0	TTN	179108654	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.133000	0.65898	0.460000	0.39030	ATT		PASS	0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		122	156	122	156	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179414471	179414471	+	Missense_Mutation	SNP	G	G	A	rs377464325		TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:179414471G>A	ENST00000591111.1	-	288	87279	c.87055C>T	c.(87055-87057)Cgg>Tgg	p.R29019W	TTN_ENST00000342992.6_Missense_Mutation_p.R28092W|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R21595W|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R21720W|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R21787W|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R30660W			Q8WZ42	TITIN_HUMAN	titin	29019	Fibronectin type-III 111. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R21787W(1)|p.R21720W(1)|p.R28092W(1)|p.R21595W(1)|p.R28090W(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGTTTCCCGTTTTTCAATG	0.438																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(84274-84276)CGG>TGG		titin isoform N2-A		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	2,3784		0,2,1891	121.0	110.0	113.0		64783,84274,65158,65359	4.6	1.0	2		113	0,8220		0,0,4110	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	101,101,101,101	0,2,6001	AA,AG,GG		0.0,0.0528,0.0167	probably-damaging,probably-damaging,probably-damaging,probably-damaging	21595/26927,28092/33424,21720/27052,21787/27119	179414471	2,12004	1893	4110	6003	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179414471G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.87055C>T	2.37:g.179414471G>A	ENSP00000465570:p.Arg29019Trp					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R21787W|TTN_uc010zfi.1_Missense_Mutation_p.R21720W|TTN_uc010zfj.1_Missense_Mutation_p.R21595W	p.R28092W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		287	84498	-			29019					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.84274C>T		.	.	.	.	.	.	.	.	.	.	G	16.39	3.109915	0.56398	5.28E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.48	4.59	0.56863	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80747	0.4682	M	0.92507	3.315	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.85502	0.1192	9	0.87932	D	0	.	13.6111	0.62078	0.0:0.0:0.7174:0.2825	.	21595;21720;21787;29019	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	28092;21595;21787;21720;21592	ENSP00000343764:R28092W;ENSP00000434586:R21595W;ENSP00000340554:R21787W;ENSP00000352154:R21720W	ENSP00000340554:R21787W	R	-	1	2	TTN	179122717	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.568000	0.53820	1.416000	0.47057	0.563000	0.77884	CGG		PASS	0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		57	67	57	67	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179500272	179500272	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:179500272C>T	ENST00000591111.1	-	177	37080	c.36856G>A	c.(36856-36858)Gga>Aga	p.G12286R	TTN_ENST00000342992.6_Missense_Mutation_p.G11359R|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G4862R|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G4987R|TTN_ENST00000342175.6_Missense_Mutation_p.G5054R|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G13927R			Q8WZ42	TITIN_HUMAN	titin	12286	Ig-like 82.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G11359R(2)|p.G5054R(1)|p.G4862R(1)|p.G4987R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGATGATTTCCATCTCTCAGT	0.378																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(34075-34077)GGA>AGA		titin isoform N2-A							110.0	97.0	101.0					2																	179500272		1838	4095	5933	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179500272C>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.36856G>A	2.37:g.179500272C>T	ENSP00000465570:p.Gly12286Arg					TTN_uc010zfh.1_Missense_Mutation_p.G5054R|TTN_uc010zfi.1_Missense_Mutation_p.G4987R|TTN_uc010zfj.1_Missense_Mutation_p.G4862R	p.G11359R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		176	34299	-			12286					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.34075G>A		.	.	.	.	.	.	.	.	.	.	C	16.23	3.065337	0.55432	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.94	5.94	0.96194	Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74604	0.3738	M	0.85859	2.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.77062	-0.2727	9	0.87932	D	0	.	20.3658	0.98878	0.0:1.0:0.0:0.0	.	4862;4987;5054;12286	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	11359;4862;5054;4987;4862	ENSP00000343764:G11359R;ENSP00000434586:G4862R;ENSP00000340554:G5054R;ENSP00000352154:G4987R	ENSP00000340554:G5054R	G	-	1	0	TTN	179208517	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.770000	0.85390	2.820000	0.97059	0.650000	0.86243	GGA		PASS	0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	10	5	10	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179581922	179581922	+	Silent	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:179581922C>A	ENST00000591111.1	-	86	24812	c.24588G>T	c.(24586-24588)ctG>ctT	p.L8196L	TTN_ENST00000342992.6_Silent_p.L7269L|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.L8513L			Q8WZ42	TITIN_HUMAN	titin	12380	Ig-like 64.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L7269L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGAACTGTCAGAGTGGCAG	0.493																																						uc010zfg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(21805-21807)CTG>CTT		titin isoform N2-A							66.0	68.0	67.0					2																	179581922		1917	4126	6043	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179581922C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24588G>T	2.37:g.179581922C>A						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.L3930L	p.L7269L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		85	22031	-			8196					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.21807G>T																																																																																					PASS	0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		49	59	49	59	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179599249	179599249	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:179599249G>C	ENST00000591111.1	-	50	14575	c.14351C>G	c.(14350-14352)aCt>aGt	p.T4784S	TTN_ENST00000342992.6_Missense_Mutation_p.T3857S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.T5101S			Q8WZ42	TITIN_HUMAN	titin	12166	Ig-like 28.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T3857S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAATGGTCCAGTGCCTGAGAC	0.388																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(11569-11571)ACT>AGT		titin isoform N2-A							87.0	87.0	87.0					2																	179599249		1858	4109	5967	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179599249G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14351C>G	2.37:g.179599249G>C	ENSP00000465570:p.Thr4784Ser					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T518S	p.T3857S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		49	11794	-			4784					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.11570C>G		.	.	.	.	.	.	.	.	.	.	G	13.79	2.341960	0.41498	.	.	ENSG00000155657	ENST00000342992	T	0.66815	-0.23	5.76	5.76	0.90799	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74238	0.3690	N	0.21508	0.67	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.77230	-0.2664	9	0.87932	D	0	.	19.9731	0.97292	0.0:0.0:1.0:0.0	.	4784	Q8WZ42	TITIN_HUMAN	S	3857	ENSP00000343764:T3857S	ENSP00000343764:T3857S	T	-	2	0	TTN	179307494	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	7.656000	0.83736	2.715000	0.92844	0.563000	0.77884	ACT		PASS	0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		94	129	94	129	---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179733888	179733888	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:179733888C>G	ENST00000420890.2	-	15	2467	c.2350G>C	c.(2350-2352)Gat>Cat	p.D784H	CCDC141_ENST00000295723.5_Missense_Mutation_p.D209H	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	784								p.D784H(1)|p.D209H(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TACAGGATATCCTCGTAATCC	0.403																																						uc002unf.1																			2	Substitution - Missense(2)		lung(2)	ovary(7)|pancreas(2)|skin(1)	10						c.(625-627)GAT>CAT		coiled-coil domain containing 141							181.0	161.0	168.0					2																	179733888		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179733888C>G	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2350G>C	2.37:g.179733888C>G	ENSP00000395995:p.Asp784His						p.D209H	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		5	682	-			209					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.625G>C		.	.	.	.	.	.	.	.	.	.	C	12.61	1.990857	0.35131	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.44482	0.92;1.53;1.52;1.53	5.49	-0.837	0.10766	.	0.740503	0.12334	N	0.478102	T	0.31949	0.0813	N	0.24115	0.695	0.09310	N	1	P	0.43094	0.799	P	0.47915	0.561	T	0.20605	-1.0270	10	0.62326	D	0.03	-0.0039	5.5633	0.17157	0.0:0.4217:0.1405:0.4378	.	209	Q6ZP82	CC141_HUMAN	H	784;228;209;784	ENSP00000395995:D784H;ENSP00000344627:D228H;ENSP00000295723:D209H;ENSP00000390190:D784H	ENSP00000295723:D209H	D	-	1	0	CCDC141	179442133	0.000000	0.05858	0.005000	0.12908	0.993000	0.82548	-0.336000	0.07863	-0.021000	0.14009	0.655000	0.94253	GAT		PASS	0.403	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		88	137	88	137	---	---	---	---
ZNF385B	151126	broad.mit.edu	37	2	180383331	180383331	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:180383331G>T	ENST00000410066.1	-	5	1034	c.431C>A	c.(430-432)aCa>aAa	p.T144K	ZNF385B_ENST00000409343.1_Missense_Mutation_p.T68K|ZNF385B_ENST00000336917.5_Missense_Mutation_p.T42K|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.T42K	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	144	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)	p.T144K(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TACTCCAAATGTATGGTTAAT	0.343																																					Colon(155;204 2491 32774 51842)	uc002unn.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(430-432)ACA>AAA		zinc finger protein 385B isoform 1							114.0	118.0	116.0					2																	180383331		2203	4300	6503	SO:0001583	missense	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180383331G>T	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.431C>A	2.37:g.180383331G>T	ENSP00000386845:p.Thr144Lys					ZNF385B_uc002unj.2_Missense_Mutation_p.T42K|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Missense_Mutation_p.T41K|ZNF385B_uc002unm.2_Missense_Mutation_p.T68K	p.T144K	NM_152520	NP_689733	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		5	1035	-			144					Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	37	c.431C>A	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	G	31	5.090781	0.94149	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692;ENST00000457304;ENST00000439340	T;T;T;T;T;T	0.54675	1.0;1.0;1.0;1.0;1.0;0.56	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.73892	0.3645	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.75405	-0.3329	10	0.87932	D	0	-13.9189	19.8991	0.96978	0.0:0.0:1.0:0.0	.	144;68	Q569K4;Q569K4-2	Z385B_HUMAN;.	K	144;42;68;42;42;75	ENSP00000386845:T144K;ENSP00000338225:T42K;ENSP00000386379:T68K;ENSP00000386507:T42K;ENSP00000394038:T42K;ENSP00000399198:T75K	ENSP00000338225:T42K	T	-	2	0	ZNF385B	180091576	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.776000	0.99001	2.697000	0.92050	0.585000	0.79938	ACA		PASS	0.343	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		71	143	71	143	---	---	---	---
FAM171B	165215	broad.mit.edu	37	2	187627521	187627521	+	Nonsense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:187627521G>T	ENST00000304698.5	+	8	2655	c.2452G>T	c.(2452-2454)Gag>Tag	p.E818*		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	818						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.E818*(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GAAGAAGCGAGAGGAACGCCC	0.438																																						uc002ups.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|breast(3)|central_nervous_system(1)	10						c.(2452-2454)GAG>TAG		KIAA1946							81.0	81.0	81.0					2																	187627521		2203	4299	6502	SO:0001587	stop_gained	165215					integral to membrane	DNA binding	g.chr2:187627521G>T	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.2452G>T	2.37:g.187627521G>T	ENSP00000304108:p.Glu818*					FAM171B_uc002upr.1_Nonsense_Mutation_p.E785*|FAM171B_uc002upt.2_Nonsense_Mutation_p.E287*	p.E818*	NM_177454	NP_803237	Q6P995	F171B_HUMAN			8	2564	+			818			Cytoplasmic (Potential).		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Nonsense_Mutation	SNP	ENST00000304698.5	37	c.2452G>T	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	G	40	8.171777	0.98688	.	.	ENSG00000144369	ENST00000304698	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.3357	20.547	0.99278	0.0:0.0:1.0:0.0	.	.	.	.	X	818	.	ENSP00000304108:E818X	E	+	1	0	FAM171B	187335766	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.874000	0.63064	2.850000	0.98022	0.650000	0.86243	GAG		PASS	0.438	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		33	40	33	40	---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189899824	189899824	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:189899824G>A	ENST00000374866.3	-	53	4445	c.4171C>T	c.(4171-4173)Cgc>Tgc	p.R1391C		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1391	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|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)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.R1391C(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GATAAAAGGCGCAAAAAAGTC	0.398																																						uc002uqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(4171-4173)CGC>TGC		alpha 2 type V collagen preproprotein							103.0	101.0	102.0					2																	189899824		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189899824G>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4171C>T	2.37:g.189899824G>A	ENSP00000364000:p.Arg1391Cys					COL5A2_uc010frx.2_Missense_Mutation_p.R967C	p.R1391C	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		53	4446	-			1391			Fibrillar collagen NC1.		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.4171C>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327699	0.81690	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	T	0.78707	-1.2	5.66	5.66	0.87406	Fibrillar collagen, C-terminal (4);	0.000000	0.49305	D	0.000155	D	0.91938	0.7447	H	0.94503	3.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93502	0.6845	10	0.72032	D	0.01	.	19.7297	0.96177	0.0:0.0:1.0:0.0	.	1031;1391	Q5PR22;P05997	.;CO5A2_HUMAN	C	1391;1031	ENSP00000364000:R1391C	ENSP00000364000:R1391C	R	-	1	0	COL5A2	189608069	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.658000	0.90341	0.650000	0.86243	CGC		PASS	0.398	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		97	76	97	76	---	---	---	---
ICOS	29851	broad.mit.edu	37	2	204822598	204822598	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:204822598G>A	ENST00000316386.6	+	4	645	c.578G>A	c.(577-579)aGa>aAa	p.R193K	ICOS_ENST00000435193.1_Intron	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	193					immune response (GO:0006955)|single organismal cell-cell adhesion (GO:0016337)|T cell costimulation (GO:0031295)|T cell tolerance induction (GO:0002517)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.R193K(1)		breast(1)|large_intestine(1)|lung(4)	6						AAAAAATCTAGACTCACAGGT	0.388																																						uc002vam.2																			1	Substitution - Missense(1)		lung(1)		0						c.(577-579)AGA>AAA		inducible T-cell co-stimulator precursor							85.0	84.0	84.0					2																	204822598		2203	4300	6503	SO:0001583	missense	29851				immune response|T cell costimulation	extracellular region		g.chr2:204822598G>A	AB023135	CCDS2363.1	2q33	2014-09-17			ENSG00000163600	ENSG00000163600		"""CD molecules"""	5351	protein-coding gene	gene with protein product	"""activation-inducible lymphocyte immunomediatory molecule"""	604558				9930702, 10617205	Standard	NM_012092		Approved	AILIM, CD278	uc002vam.3	Q9Y6W8	OTTHUMG00000132880	ENST00000316386.6:c.578G>A	2.37:g.204822598G>A	ENSP00000319476:p.Arg193Lys					ICOS_uc010zip.1_Missense_Mutation_p.R193K|ICOS_uc010fua.2_Intron	p.R193K	NM_012092	NP_036224	Q9Y6W8	ICOS_HUMAN			4	645	+			193			Cytoplasmic (Potential).		Q8N6W8	Missense_Mutation	SNP	ENST00000316386.6	37	c.578G>A	CCDS2363.1	.	.	.	.	.	.	.	.	.	.	G	6.552	0.470148	0.12461	.	.	ENSG00000163600	ENST00000316386	.	.	.	5.73	1.9	0.25705	.	1.032320	0.07666	N	0.934544	T	0.26122	0.0637	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.28713	-1.0035	9	0.08599	T	0.76	-12.1308	6.5178	0.22258	0.1551:0.2764:0.5685:0.0	.	193;193	Q53QY6;Q9Y6W8	.;ICOS_HUMAN	K	193	.	ENSP00000319476:R193K	R	+	2	0	ICOS	204530843	0.001000	0.12720	0.000000	0.03702	0.064000	0.16182	0.086000	0.14935	0.072000	0.16694	-1.446000	0.01064	AGA		PASS	0.388	ICOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256369.1	NM_012092		59	71	59	71	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211465305	211465305	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:211465305C>T	ENST00000233072.5	+	15	1772	c.1576C>T	c.(1576-1578)Ctc>Ttc	p.L526F	CPS1_ENST00000451903.2_Missense_Mutation_p.L75F|CPS1_ENST00000430249.2_Missense_Mutation_p.L532F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	526					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.L526F(1)|p.L532F(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GAGAGGTGTGCTCAAGGAATA	0.363																																						uc002vee.3																			2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(1576-1578)CTC>TTC		carbamoyl-phosphate synthetase 1 isoform b							120.0	117.0	118.0					2																	211465305		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211465305C>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1576C>T	2.37:g.211465305C>T	ENSP00000233072:p.Leu526Phe					CPS1_uc010fur.2_Missense_Mutation_p.L532F|CPS1_uc010fus.2_Missense_Mutation_p.L75F	p.L526F	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	15	1708	+			526					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.1576C>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	2.856	-0.237113	0.05944	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.95690	-3.78;-3.78;-3.78	5.09	4.22	0.49857	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92001	0.7466	L	0.45228	1.405	0.47862	D	0.999535	P;P	0.35628	0.513;0.513	B;B	0.41988	0.372;0.372	D	0.87953	0.2725	10	0.02654	T	1	-16.8424	11.0249	0.47739	0.0:0.8491:0.0:0.1509	.	536;526	Q59HF8;P31327	.;CPSM_HUMAN	F	532;534;526;75	ENSP00000402608:L532F;ENSP00000233072:L526F;ENSP00000406136:L75F	ENSP00000233072:L526F	L	+	1	0	CPS1	211173550	0.998000	0.40836	1.000000	0.80357	0.718000	0.41266	2.819000	0.48049	1.273000	0.44346	0.460000	0.39030	CTC		PASS	0.363	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			81	125	81	125	---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215862486	215862486	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:215862486G>C	ENST00000272895.7	-	23	3446	c.3227C>G	c.(3226-3228)gCc>gGc	p.A1076G	ABCA12_ENST00000389661.4_Missense_Mutation_p.A758G	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1076					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.A1076G(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TACAACCCAGGCAACCATAAG	0.363																																					Ovarian(66;664 1488 5121 34295)	uc002vew.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(3226-3228)GCC>GGC		ATP-binding cassette, sub-family A, member 12							89.0	86.0	87.0					2																	215862486		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215862486G>C	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3227C>G	2.37:g.215862486G>C	ENSP00000272895:p.Ala1076Gly					ABCA12_uc002vev.2_Missense_Mutation_p.A758G|ABCA12_uc010zjn.1_Missense_Mutation_p.A3G	p.A1076G	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	23	3447	-		Renal(323;0.127)	1076			Helical; (Potential).		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.3227C>G	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	34	5.368133	0.95900	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.87256	-2.23;-2.23	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000004	D	0.94503	0.8230	M	0.85630	2.765	0.80722	D	1	D;P	0.76494	0.999;0.741	D;P	0.74674	0.984;0.681	D	0.94192	0.7442	10	0.72032	D	0.01	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1076;758	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	G	1076;758	ENSP00000272895:A1076G;ENSP00000374312:A758G	ENSP00000272895:A1076G	A	-	2	0	ABCA12	215570731	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.350000	0.97070	2.885000	0.99019	0.655000	0.94253	GCC		PASS	0.363	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		38	44	38	44	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216241299	216241299	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:216241299C>A	ENST00000359671.1	-	35	5801	c.5536G>T	c.(5536-5538)Gtt>Ttt	p.V1846F	FN1_ENST00000490833.1_5'Flank|FN1_ENST00000345488.5_Missense_Mutation_p.V1846F|FN1_ENST00000357867.4_Missense_Mutation_p.V1756F|FN1_ENST00000354785.4_Missense_Mutation_p.V1937F|FN1_ENST00000336916.4_Missense_Mutation_p.V1846F|FN1_ENST00000432072.2_Missense_Mutation_p.V1847F|FN1_ENST00000323926.6_Missense_Mutation_p.V1937F|FN1_ENST00000443816.1_Missense_Mutation_p.V1756F|FN1_ENST00000446046.1_Missense_Mutation_p.V1846F|FN1_ENST00000356005.4_Missense_Mutation_p.V1756F|FN1_ENST00000357009.2_Missense_Mutation_p.V1846F|FN1_ENST00000421182.1_Missense_Mutation_p.V1756F|FN1_ENST00000346544.3_Missense_Mutation_p.V1846F			P02751	FINC_HUMAN	fibronectin 1	1846	Binds to FBLN1.|Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Heparin-binding 2.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.V1846F(1)|p.V1937F(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ACGGCATCAACTTGGAAGCCA	0.512																																						uc002vfa.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(5809-5811)GTT>TTT		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						204.0	168.0	180.0					2																	216241299		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216241299C>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5536G>T	2.37:g.216241299C>A	ENSP00000352696:p.Val1846Phe					FN1_uc002vfb.2_Missense_Mutation_p.V1756F|FN1_uc002vfc.2_Missense_Mutation_p.V1756F|FN1_uc002vfd.2_Missense_Mutation_p.V1937F|FN1_uc002vfe.2_Missense_Mutation_p.V1846F|FN1_uc002vff.2_Missense_Mutation_p.V1846F|FN1_uc002vfg.2_Missense_Mutation_p.V1756F|FN1_uc002vfh.2_Missense_Mutation_p.V1756F|FN1_uc002vfi.2_Missense_Mutation_p.V1937F|FN1_uc002vfj.2_Missense_Mutation_p.V1847F|FN1_uc002vez.2_Missense_Mutation_p.V131F|FN1_uc010zjp.1_Missense_Mutation_p.V474F|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA|FN1_uc010fvc.1_Missense_Mutation_p.V299F|FN1_uc010fvd.1_Intron	p.V1937F	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	36	6075	-		Renal(323;0.127)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.5809G>T		.	.	.	.	.	.	.	.	.	.	C	20.2	3.951429	0.73787	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.91	5.91	0.95273	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.100669	0.43416	D	0.000566	T	0.78419	0.4280	M	0.66439	2.03	0.80722	D	1	D;D;D;D;P;D;D;D;P;P;D;D	0.76494	0.999;0.999;0.989;0.998;0.953;0.999;0.994;0.998;0.953;0.953;0.988;0.99	D;D;P;D;P;D;P;D;P;P;P;D	0.87578	0.998;0.976;0.819;0.968;0.661;0.965;0.87;0.965;0.709;0.709;0.819;0.92	T	0.79701	-0.1693	10	0.87932	D	0	.	9.9644	0.41715	0.0:0.8158:0.0:0.1842	.	1846;1847;1937;1756;1756;1846;1846;1847;1756;1756;1937;1846	F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	F	1756;1937;1846;1756;1937;1847;1846;1846;1846;1846;1846;1756;1847;1756;563	ENSP00000394423:V1756F;ENSP00000323534:V1937F;ENSP00000338200:V1846F;ENSP00000350534:V1756F;ENSP00000346839:V1937F;ENSP00000352696:V1846F;ENSP00000265312:V1846F;ENSP00000273049:V1846F;ENSP00000349509:V1846F;ENSP00000410422:V1846F;ENSP00000415018:V1756F;ENSP00000399538:V1847F;ENSP00000348285:V1756F;ENSP00000416139:V563F	ENSP00000265313:V1847F	V	-	1	0	FN1	215949544	0.088000	0.21588	0.990000	0.47175	0.908000	0.53690	0.527000	0.22987	2.793000	0.96121	0.655000	0.94253	GTT		PASS	0.512	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		28	39	28	39	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228882652	228882652	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:228882652T>A	ENST00000392056.3	-	7	2964	c.2918A>T	c.(2917-2919)aAc>aTc	p.N973I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.N973I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	973						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.N973I(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCAGGGTACGTTGGGTGTCAT	0.522																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(2917-2919)AAC>ATC		sphingosine kinase type 1-interacting protein							90.0	80.0	84.0					2																	228882652		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882652T>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2918A>T	2.37:g.228882652T>A	ENSP00000375909:p.Asn973Ile					SPHKAP_uc002vpp.2_Missense_Mutation_p.N973I|SPHKAP_uc010zlx.1_Missense_Mutation_p.N973I	p.N973I	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2965	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	973					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2918A>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.416132	0.25552	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12255	2.7;2.7	5.95	2.31	0.28768	.	0.373754	0.32687	N	0.005778	T	0.25754	0.0627	M	0.70595	2.14	0.09310	N	1	P;B;D	0.58970	0.818;0.325;0.984	B;B;P	0.59703	0.391;0.06;0.862	T	0.04029	-1.0983	10	0.51188	T	0.08	.	5.6882	0.17815	0.0:0.4171:0.0:0.5829	.	4;973;973	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	I	973	ENSP00000375909:N973I;ENSP00000339886:N973I	ENSP00000339886:N973I	N	-	2	0	SPHKAP	228590896	0.077000	0.21312	0.002000	0.10522	0.098000	0.18820	0.919000	0.28692	0.513000	0.28278	-0.370000	0.07254	AAC		PASS	0.522	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		48	75	48	75	---	---	---	---
DNER	92737	broad.mit.edu	37	2	230253096	230253096	+	Missense_Mutation	SNP	A	A	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:230253096A>C	ENST00000341772.4	-	11	1874	c.1740T>G	c.(1738-1740)atT>atG	p.I580M		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	580					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.I580M(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CATTTATGTCAATGTCGCACT	0.502																																						uc002vpv.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(2)|skin(1)	8						c.(1738-1740)ATT>ATG		delta-notch-like EGF repeat-containing							137.0	133.0	134.0					2																	230253096		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230253096A>C	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1740T>G	2.37:g.230253096A>C	ENSP00000345229:p.Ile580Met						p.I580M	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	11	1887	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	580			Extracellular (Potential).		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.1740T>G	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	A	16.69	3.193195	0.58017	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.92299	-3.01	5.69	-5.2	0.02823	.	0.155461	0.56097	D	0.000026	D	0.88489	0.6450	L	0.33624	1.015	0.42398	D	0.992556	D	0.56521	0.976	P	0.51016	0.656	D	0.85861	0.1410	10	0.48119	T	0.1	.	14.973	0.71249	0.4586:0.0:0.5414:0.0	.	580	Q8NFT8	DNER_HUMAN	M	580;298	ENSP00000345229:I580M	ENSP00000345229:I580M	I	-	3	3	DNER	229961340	0.969000	0.33509	0.891000	0.34965	0.746000	0.42486	0.253000	0.18296	-1.275000	0.02417	-0.304000	0.09214	ATT		PASS	0.502	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		109	170	109	170	---	---	---	---
USP40	55230	broad.mit.edu	37	2	234468512	234468512	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:234468512T>C	ENST00000427112.2	-	3	361	c.326A>G	c.(325-327)cAg>cGg	p.Q109R	USP40_ENST00000450966.1_Missense_Mutation_p.Q121R|USP40_ENST00000251722.6_Missense_Mutation_p.Q109R			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	109	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.Q121R(2)		breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TGCAGCTTCCTGGTCTAAGAG	0.438																																						uc010zmu.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|breast(1)	3						c.(325-327)CAG>CGG		SubName: Full=cDNA FLJ56772, highly similar to Ubiquitin carboxyl-terminal hydrolase 40 (EC 3.1.2.15);							84.0	77.0	79.0					2																	234468512		1911	4130	6041	SO:0001583	missense	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234468512T>C	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.326A>G	2.37:g.234468512T>C	ENSP00000387898:p.Gln109Arg					USP40_uc010zmr.1_Missense_Mutation_p.Q121R	p.Q109R			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	4	444	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	109					Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	c.326A>G	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.718332	0.89205	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112;ENST00000435959	T;T;T	0.30714	1.52;1.52;1.52	5.74	5.74	0.90152	.	0.161284	0.56097	D	0.000028	T	0.28830	0.0715	L	0.28274	0.84	0.58432	D	0.999999	P	0.35174	0.488	B	0.40506	0.331	T	0.05289	-1.0894	10	0.37606	T	0.19	.	16.0546	0.80788	0.0:0.0:0.0:1.0	.	121	Q9NVE5-3	.	R	121;109;109;109	ENSP00000415434:Q121R;ENSP00000251722:Q109R;ENSP00000387898:Q109R	ENSP00000251722:Q109R	Q	-	2	0	USP40	234133251	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.844000	0.86867	2.191000	0.70037	0.528000	0.53228	CAG		PASS	0.438	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		14	18	14	18	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238283145	238283145	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:238283145C>T	ENST00000295550.4	-	8	4041	c.3589G>A	c.(3589-3591)Gtc>Atc	p.V1197I	COL6A3_ENST00000353578.4_Missense_Mutation_p.V991I|COL6A3_ENST00000472056.1_Missense_Mutation_p.V590I|COL6A3_ENST00000409809.1_Missense_Mutation_p.V991I|COL6A3_ENST00000347401.3_Missense_Mutation_p.V996I|COL6A3_ENST00000392004.3_Missense_Mutation_p.V991I|COL6A3_ENST00000346358.4_Missense_Mutation_p.V997I|COL6A3_ENST00000392003.2_Missense_Mutation_p.V790I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1197	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V1197I(1)|p.V991I(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCTGTTGGACGGTCCCCAGC	0.622																																						uc002vwl.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(3589-3591)GTC>ATC		alpha 3 type VI collagen isoform 1 precursor							74.0	63.0	67.0					2																	238283145		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238283145C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3589G>A	2.37:g.238283145C>T	ENSP00000295550:p.Val1197Ile					COL6A3_uc002vwo.2_Missense_Mutation_p.V991I|COL6A3_uc010znj.1_Missense_Mutation_p.V590I|COL6A3_uc002vwq.2_Missense_Mutation_p.V991I|COL6A3_uc002vwr.2_Missense_Mutation_p.V790I	p.V1197I	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	8	3874	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1197			Nonhelical region.|VWFA 6.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3589G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	3.808	-0.040230	0.07497	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	4.97	-6.87	0.01671	von Willebrand factor, type A (2);	0.624103	0.13918	N	0.353749	T	0.25306	0.0615	N	0.05414	-0.055	0.09310	N	0.999997	P;B;B;P;B	0.39665	0.682;0.002;0.01;0.64;0.075	P;B;B;B;B	0.48270	0.572;0.015;0.05;0.184;0.018	T	0.17018	-1.0383	10	0.02654	T	1	.	10.5525	0.45097	0.0:0.2943:0.0954:0.6102	.	590;790;991;991;1197	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	I	1197;996;991;590;991;997;991;790	ENSP00000295550:V1197I;ENSP00000315609:V996I;ENSP00000315873:V991I;ENSP00000418285:V590I;ENSP00000386844:V991I;ENSP00000295546:V997I;ENSP00000375861:V991I;ENSP00000375860:V790I	ENSP00000295550:V1197I	V	-	1	0	COL6A3	237947884	0.000000	0.05858	0.000000	0.03702	0.449000	0.32228	-0.141000	0.10327	-1.619000	0.01566	-0.812000	0.03155	GTC		PASS	0.622	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		49	69	49	69	---	---	---	---
KIF1A	547	broad.mit.edu	37	2	241658532	241658532	+	Missense_Mutation	SNP	C	C	G	rs369839651		TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:241658532C>G	ENST00000320389.7	-	45	4960	c.4802G>C	c.(4801-4803)cGc>cCc	p.R1601P	KIF1A_ENST00000498729.2_Missense_Mutation_p.R1702P	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1601	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.R1601P(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGCATAGGGGCGCCGCACCAC	0.627																																						uc002vzy.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(4801-4803)CGC>CCC		axonal transport of synaptic vesicles							85.0	98.0	94.0					2																	241658532		2161	4271	6432	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241658532C>G	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4802G>C	2.37:g.241658532C>G	ENSP00000322791:p.Arg1601Pro					KIF1A_uc010fzk.2_Missense_Mutation_p.R1702P|KIF1A_uc002vzw.2_Missense_Mutation_p.R262P|KIF1A_uc002vzx.2_Missense_Mutation_p.R328P	p.R1601P	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	45	4948	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1601			PH.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.4802G>C	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780000	0.90195	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.11495	2.77;2.77	4.06	4.06	0.47325	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	U	0.000000	T	0.32793	0.0841	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.18429	-1.0337	10	0.72032	D	0.01	.	16.24	0.82402	0.0:1.0:0.0:0.0	.	1702;1601	F5H045;Q12756	.;KIF1A_HUMAN	P	1601;1702;1710	ENSP00000322791:R1601P;ENSP00000438388:R1702P	ENSP00000322791:R1601P	R	-	2	0	KIF1A	241307205	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.508000	0.81686	1.818000	0.53035	0.467000	0.42956	CGC		PASS	0.627	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		75	95	75	95	---	---	---	---
ANKRD28	23243	broad.mit.edu	37	3	15762485	15762485	+	Silent	SNP	T	T	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr3:15762485T>C	ENST00000399451.2	-	8	1210	c.843A>G	c.(841-843)gcA>gcG	p.A281A	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Silent_p.A314A	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	281						nucleus (GO:0005634)		p.A314A(1)		breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CATGTGTTGATGCAGCAGCAA	0.363																																						uc003caj.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(841-843)GCA>GCG		ankyrin repeat domain 28							145.0	139.0	141.0					3																	15762485		1914	4120	6034	SO:0001819	synonymous_variant	23243					nucleoplasm	protein binding	g.chr3:15762485T>C	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.843A>G	3.37:g.15762485T>C						ANKRD28_uc003cai.1_Silent_p.A127A|ANKRD28_uc011avz.1_Silent_p.A127A|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Silent_p.A311A|ANKRD28_uc003cam.2_Silent_p.A314A	p.A281A	NM_015199	NP_056014	O15084	ANR28_HUMAN			8	986	-			281			ANK 8.		B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Silent	SNP	ENST00000399451.2	37	c.843A>G	CCDS46769.1																																																																																				PASS	0.363	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		96	14	96	14	---	---	---	---
SCAP	22937	broad.mit.edu	37	3	47468674	47468674	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr3:47468674G>A	ENST00000265565.5	-	6	1122	c.710C>T	c.(709-711)aCc>aTc	p.T237I	SCAP_ENST00000545718.1_Intron|SCAP_ENST00000441517.2_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	237					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)	p.T237I(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GAAGACCAGGGTGATGGTGTA	0.527																																					Pancreas(149;978 1908 29304 37806 46700)	uc003crh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(709-711)ACC>ATC		SREBF chaperone protein							232.0	201.0	211.0					3																	47468674		2203	4300	6503	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47468674G>A	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.710C>T	3.37:g.47468674G>A	ENSP00000265565:p.Thr237Ile					SCAP_uc011baz.1_Intron|SCAP_uc003crg.2_Intron	p.T237I	NM_012235	NP_036367	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	6	965	-			237			Lumenal (By similarity).		Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.710C>T	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994851	0.93167	.	.	ENSG00000114650	ENST00000339815;ENST00000265565	D	0.83335	-1.71	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.91229	0.7236	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91787	0.5440	10	0.62326	D	0.03	-37.3685	18.235	0.89947	0.0:0.0:1.0:0.0	.	237	Q12770	SCAP_HUMAN	I	237	ENSP00000265565:T237I	ENSP00000265565:T237I	T	-	2	0	SCAP	47443678	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.128000	0.94424	2.631000	0.89168	0.609000	0.83330	ACC		PASS	0.527	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		105	15	105	15	---	---	---	---
RNF123	63891	broad.mit.edu	37	3	49742178	49742178	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr3:49742178G>T	ENST00000327697.6	+	22	2092	c.1948G>T	c.(1948-1950)Gct>Tct	p.A650S	RNF123_ENST00000432042.1_Missense_Mutation_p.A504S	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	650					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A650S(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCCAGCCCCAGCTATGGCCCA	0.592																																						uc003cxh.2																			1	Substitution - Missense(1)		lung(1)	kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7						c.(1948-1950)GCT>TCT		ring finger protein 123							35.0	28.0	31.0					3																	49742178		2200	4294	6494	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49742178G>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.1948G>T	3.37:g.49742178G>T	ENSP00000328287:p.Ala650Ser					RNF123_uc010hky.1_Missense_Mutation_p.A312S|RNF123_uc003cxi.2_RNA	p.A650S	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	22	2034	+			650					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.1948G>T	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	7.880	0.730008	0.15507	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.78595	-0.85;-1.19	4.78	-1.42	0.08913	.	0.861537	0.09030	U	0.858873	T	0.51075	0.1653	N	0.08118	0	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32241	-0.9914	10	0.13470	T	0.59	-0.6596	4.6967	0.12808	0.272:0.0:0.2103:0.5177	.	504;650	C9J266;Q5XPI4	.;RN123_HUMAN	S	650;650;504	ENSP00000328287:A650S;ENSP00000392443:A504S	ENSP00000328287:A650S	A	+	1	0	RNF123	49717182	0.078000	0.21339	0.085000	0.20634	0.912000	0.54170	0.222000	0.17699	-0.153000	0.11137	-0.339000	0.08088	GCT		PASS	0.592	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		3	0	3	0	---	---	---	---
UBA3	9039	broad.mit.edu	37	3	69111294	69111294	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr3:69111294T>A	ENST00000361055.4	-	10	784	c.730A>T	c.(730-732)Agg>Tgg	p.R244W	UBA3_ENST00000540295.1_Missense_Mutation_p.R67W|UBA3_ENST00000415609.2_Missense_Mutation_p.R203W|UBA3_ENST00000349511.4_Missense_Mutation_p.R230W	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	244	Interaction with NAE1.				cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726)	cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982)	p.R244W(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		TCTGGTAGCCTGGGCATAGAT	0.363																																						uc003dno.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(730-732)AGG>TGG		ubiquitin-activating enzyme 3 isoform 1							115.0	116.0	116.0					3																	69111294		2203	4300	6503	SO:0001583	missense	9039				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity	g.chr3:69111294T>A	AB012190	CCDS2909.1, CCDS2910.1	3p14.1	2013-09-26	2007-11-30	2007-11-30	ENSG00000144744	ENSG00000144744		"""Ubiquitin-like modifier activating enzymes"""	12470	protein-coding gene	gene with protein product	"""NEDD8-activating enzyme E1 catalytic subunit"", ""NEDD8-activating enzyme E1 subunit 2"""	603172	"""ubiquitin-activating enzyme E1C (homologous to yeast UBA3)"", ""ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)"""	UBE1C		9694792	Standard	NM_003968		Approved	hUba3, NAE2	uc003dno.3	Q8TBC4	OTTHUMG00000154325	ENST00000361055.4:c.730A>T	3.37:g.69111294T>A	ENSP00000354340:p.Arg244Trp					UBA3_uc003dnq.2_Missense_Mutation_p.R230W|UBA3_uc011bfy.1_Missense_Mutation_p.R67W|UBA3_uc011bfz.1_Missense_Mutation_p.R67W	p.R244W	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)	10	750	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	244			Interaction with NAE1.		A6NLB5|A8K027|O76088|Q9NTU3	Missense_Mutation	SNP	ENST00000361055.4	37	c.730A>T	CCDS2909.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.985935	0.74589	.	.	ENSG00000144744	ENST00000415609;ENST00000361055;ENST00000349511;ENST00000540295	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.5	3.01	0.34805	Ubiquitin activating enzyme, alpha domain (1);Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-activating enzyme (1);	0.000000	0.85682	D	0.000000	T	0.67192	0.2867	H	0.96662	3.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76124	-0.3074	10	0.87932	D	0	-8.9326	12.8612	0.57913	0.0:0.0:0.3879:0.6121	.	230;244	Q8TBC4-2;Q8TBC4	.;UBA3_HUMAN	W	203;244;230;67	ENSP00000400294:R203W;ENSP00000354340:R244W;ENSP00000340041:R230W;ENSP00000440085:R67W	ENSP00000340041:R230W	R	-	1	2	UBA3	69193984	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.369000	0.44231	0.337000	0.23665	0.533000	0.62120	AGG		PASS	0.363	UBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334839.1	NM_198195		72	24	72	24	---	---	---	---
STX19	415117	broad.mit.edu	37	3	93734029	93734029	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr3:93734029C>T	ENST00000315099.2	-	2	341	c.85G>A	c.(85-87)Gag>Aag	p.E29K	ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000394222.3_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	29					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)		p.E29K(1)		kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						CCTTGTTCCTCTGTTTCTGTA	0.393																																						uc003drh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(85-87)GAG>AAG		syntaxin 19							134.0	126.0	129.0					3																	93734029		2203	4300	6503	SO:0001583	missense	415117				intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity	g.chr3:93734029C>T	AF461456	CCDS33793.1	3q11	2005-12-30			ENSG00000178750	ENSG00000178750			19300	protein-coding gene	gene with protein product							Standard	NM_001001850		Approved	MGC21382	uc003drh.1	Q8N4C7	OTTHUMG00000159013	ENST00000315099.2:c.85G>A	3.37:g.93734029C>T	ENSP00000320679:p.Glu29Lys					ARL13B_uc003drc.2_Intron|ARL13B_uc010hop.2_Intron|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_Intron|ARL13B_uc003drf.2_Intron|ARL13B_uc003drg.2_Intron	p.E29K	NM_001001850	NP_001001850	Q8N4C7	STX19_HUMAN			2	342	-			29						Missense_Mutation	SNP	ENST00000315099.2	37	c.85G>A	CCDS33793.1	.	.	.	.	.	.	.	.	.	.	C	9.636	1.137804	0.21123	.	.	ENSG00000178750	ENST00000315099	T	0.46451	0.87	4.05	4.05	0.47172	.	0.426354	0.24447	N	0.038454	T	0.21550	0.0519	N	0.08118	0	0.33348	D	0.57065	B	0.21452	0.056	B	0.17722	0.019	T	0.21930	-1.0231	10	0.23891	T	0.37	-0.9428	10.79	0.46428	0.0:0.909:0.0:0.091	.	29	Q8N4C7	STX19_HUMAN	K	29	ENSP00000320679:E29K	ENSP00000320679:E29K	E	-	1	0	STX19	95216719	0.309000	0.24518	0.997000	0.53966	0.423000	0.31445	1.333000	0.33816	2.186000	0.69663	0.591000	0.81541	GAG		PASS	0.393	STX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352909.1	NM_001001850		102	116	102	116	---	---	---	---
CLSTN2	64084	broad.mit.edu	37	3	140178441	140178441	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr3:140178441G>T	ENST00000458420.3	+	7	1242	c.1052G>T	c.(1051-1053)aGc>aTc	p.S351I	RP11-68L1.1_ENST00000483759.2_RNA|RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	351					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.S351I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CTGGTGGACAGCAGTGAGATG	0.562										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(1051-1053)AGC>ATC		calsyntenin 2 precursor							88.0	77.0	80.0					3																	140178441		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140178441G>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1052G>T	3.37:g.140178441G>T	ENSP00000402460:p.Ser351Ile	HNSCC(16;0.037)				CLSTN2_uc003etm.2_Missense_Mutation_p.S351I	p.S351I	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			7	1242	+			351			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.1052G>T	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233761	0.58886	.	.	ENSG00000158258	ENST00000458420	T	0.27104	1.69	5.41	3.36	0.38483	Concanavalin A-like lectin/glucanase (1);	0.147228	0.64402	D	0.000012	T	0.20780	0.0500	L	0.47716	1.5	0.33466	D	0.585573	P	0.38642	0.641	B	0.38562	0.276	T	0.33163	-0.9879	10	0.87932	D	0	-12.8079	4.9648	0.14085	0.3622:0.0:0.6377:0.0	.	351	Q9H4D0	CSTN2_HUMAN	I	351	ENSP00000402460:S351I	ENSP00000402460:S351I	S	+	2	0	CLSTN2	141661131	0.963000	0.33076	0.999000	0.59377	0.864000	0.49448	0.971000	0.29396	1.298000	0.44778	0.655000	0.94253	AGC		PASS	0.562	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		11	296	11	296	---	---	---	---
PXYLP1	92370	broad.mit.edu	37	3	141011380	141011380	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr3:141011380G>A	ENST00000286353.4	+	6	913	c.776G>A	c.(775-777)cGt>cAt	p.R259H	ACPL2_ENST00000393007.1_Missense_Mutation_p.R243H|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000502783.1_Missense_Mutation_p.R221H|ACPL2_ENST00000508812.1_Missense_Mutation_p.R250H|ACPL2_ENST00000504264.1_Missense_Mutation_p.R242H|ACPL2_ENST00000393010.2_Missense_Mutation_p.R259H	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		259						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)	p.R259H(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						AAGGAGCAGCGTCGTCAGTAC	0.527																																						uc003etu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(775-777)CGT>CAT		acid phosphatase-like 2 precursor							64.0	69.0	68.0					3																	141011380		2203	4300	6503	SO:0001583	missense	92370					extracellular region	acid phosphatase activity	g.chr3:141011380G>A																												ENST00000286353.4:c.776G>A	3.37:g.141011380G>A	ENSP00000286353:p.Arg259His					ACPL2_uc003etv.2_Missense_Mutation_p.R259H|ACPL2_uc011bna.1_Missense_Mutation_p.R221H|ACPL2_uc011bnb.1_Missense_Mutation_p.R242H	p.R259H	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN			8	1075	+			259					D3DNF5|Q49AJ2|W0TR04	Missense_Mutation	SNP	ENST00000286353.4	37	c.776G>A	CCDS3116.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.208100	0.58343	.	.	ENSG00000155893	ENST00000286353;ENST00000502783;ENST00000393010;ENST00000504264;ENST00000508812;ENST00000393007;ENST00000332228	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	5.46	3.6	0.41247	.	0.101816	0.64402	N	0.000004	T	0.37293	0.0998	M	0.77820	2.39	0.58432	D	0.999997	B;B	0.24043	0.04;0.096	B;B	0.22386	0.024;0.039	T	0.15435	-1.0437	10	0.35671	T	0.21	.	9.1329	0.36857	0.1847:0.0:0.8153:0.0	.	242;259	B7Z3R9;Q8TE99	.;ACPL2_HUMAN	H	259;221;259;242;250;243;67	ENSP00000286353:R259H;ENSP00000422558:R221H;ENSP00000376733:R259H;ENSP00000426877:R242H;ENSP00000422901:R250H;ENSP00000376731:R243H	ENSP00000286353:R259H	R	+	2	0	ACPL2	142494070	1.000000	0.71417	0.917000	0.36280	0.997000	0.91878	5.516000	0.67055	0.724000	0.32296	0.555000	0.69702	CGT		PASS	0.527	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2			7	218	7	218	---	---	---	---
TM4SF4	7104	broad.mit.edu	37	3	149216547	149216547	+	Missense_Mutation	SNP	G	G	A	rs367773065		TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr3:149216547G>A	ENST00000305354.4	+	4	1344	c.440G>A	c.(439-441)cGa>cAa	p.R147Q		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	147					tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)		p.R147Q(2)		large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AACAAGTGCCGAGAGCCTCTC	0.483																																						uc003exd.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(439-441)CGA>CAA		transmembrane 4 superfamily member 4		G	GLN/ARG	0,3854		0,0,1927	92.0	93.0	92.0		440	-11.8	0.0	3		92	1,8263		0,1,4131	no	missense	TM4SF4	NM_004617.3	43	0,1,6058	AA,AG,GG		0.0121,0.0,0.0083	benign	147/203	149216547	1,12117	1927	4132	6059	SO:0001583	missense	7104					integral to membrane		g.chr3:149216547G>A		CCDS46932.1	3q25	2005-03-21	2005-03-21		ENSG00000169903	ENSG00000169903			11856	protein-coding gene	gene with protein product		606567	"""transmembrane 4 superfamily member 4"""			7665614	Standard	NM_004617		Approved	il-TMP	uc003exd.2	P48230	OTTHUMG00000159619	ENST00000305354.4:c.440G>A	3.37:g.149216547G>A	ENSP00000305852:p.Arg147Gln						p.R147Q	NM_004617	NP_004608	P48230	T4S4_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		4	671	+			147			Extracellular (Potential).		B2RDA4	Missense_Mutation	SNP	ENST00000305354.4	37	c.440G>A	CCDS46932.1	.	.	.	.	.	.	.	.	.	.	G	4.644	0.119685	0.08881	0.0	1.21E-4	ENSG00000169903	ENST00000305354	T	0.29655	1.56	5.9	-11.8	0.00035	.	4.093850	0.00166	N	0.000008	T	0.07638	0.0192	N	0.01505	-0.83	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.21042	-1.0257	10	0.12103	T	0.63	-6.939	2.8524	0.05562	0.1187:0.2483:0.1436:0.4894	.	147	P48230	T4S4_HUMAN	Q	147	ENSP00000305852:R147Q	ENSP00000305852:R147Q	R	+	2	0	TM4SF4	150699237	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-6.430000	0.00066	-4.682000	0.00036	-0.295000	0.09555	CGA		PASS	0.483	TM4SF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356528.1			14	229	14	229	---	---	---	---
SERP1	27230	broad.mit.edu	37	3	150321258	150321258	+	5'Flank	SNP	A	A	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr3:150321258A>T	ENST00000479209.1	-	0	0				SELT_ENST00000477889.1_De_novo_Start_OutOfFrame|SELT_ENST00000485923.1_De_novo_Start_OutOfFrame|SERP1_ENST00000490945.1_5'Flank|SELT_ENST00000471696.1_Missense_Mutation_p.T37S|SELT_ENST00000480740.1_Intron			Q9Y6X1	SERP1_HUMAN	stress-associated endoplasmic reticulum protein 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucose metabolic process (GO:0006006)|multicellular organismal aging (GO:0010259)|muscle organ morphogenesis (GO:0048644)|plasma membrane organization (GO:0007009)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of organ growth (GO:0046622)|positive regulation of translation (GO:0045727)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|ribosome (GO:0005840)		p.T37S(1)		large_intestine(1)|lung(3)	4			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GCAGTACGCCACGGGGCCGCT	0.667																																						uc011bnx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(109-111)ACG>TCG		selenoprotein T precursor							14.0	18.0	16.0					3																	150321258		1963	4147	6110	SO:0001631	upstream_gene_variant	51714				cell redox homeostasis|selenocysteine incorporation		selenium binding	g.chr3:150321258A>T	AK125413	CCDS3150.1	3q25.1	2007-12-07	2007-12-07		ENSG00000120742	ENSG00000120742			10759	protein-coding gene	gene with protein product	"""ribosome associated membrane protein 4"""					10601334, 11230166	Standard	NM_014445		Approved	RAMP4, FLJ43424	uc003exy.3	Q9Y6X1	OTTHUMG00000159769		3.37:g.150321258A>T	Exception_encountered					SERP1_uc003exz.2_5'Flank|uc003eye.1_5'Flank	p.T37S	NM_016275	NP_057359	P62341	SELT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		1	193	+			37					D3DNI6	Missense_Mutation	SNP	ENST00000479209.1	37	c.109A>T	CCDS3150.1	.	.	.	.	.	.	.	.	.	.	a	14.01	2.407389	0.42715	.	.	ENSG00000198843	ENST00000471696	.	.	.	4.81	4.81	0.61882	Thioredoxin-like fold (2);	0.137480	0.48286	D	0.000191	T	0.27098	0.0664	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.12528	-1.0544	9	0.13470	T	0.59	-11.6854	7.4349	0.27150	0.9014:0.0:0.0986:0.0	.	37	P62341	SELT_HUMAN	S	37	.	ENSP00000418910:T37S	T	+	1	0	RP11-392O18.1	151803948	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.035000	0.41155	1.918000	0.55548	0.529000	0.55759	ACG		PASS	0.667	SERP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357239.1	NM_014445		27	33	27	33	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155282833	155282833	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr3:155282833C>T	ENST00000340059.7	-	7	903	c.904G>A	c.(904-906)Gat>Aat	p.D302N	PLCH1_ENST00000447496.2_Missense_Mutation_p.D302N|PLCH1_ENST00000414191.1_Missense_Mutation_p.D284N|PLCH1_ENST00000460012.1_Missense_Mutation_p.D284N|PLCH1_ENST00000334686.6_Missense_Mutation_p.D284N|PLCH1_ENST00000494598.1_Missense_Mutation_p.D302N	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	302	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.D302N(1)|p.D284N(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGGGGCTGATCCATGTCTTGG	0.463																																						uc011bok.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(904-906)GAT>AAT		phospholipase C eta 1 isoform a							174.0	154.0	161.0					3																	155282833		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155282833C>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.904G>A	3.37:g.155282833C>T	ENSP00000345988:p.Asp302Asn					PLCH1_uc011boj.1_Missense_Mutation_p.D302N|PLCH1_uc011bol.1_Missense_Mutation_p.D284N	p.D302N	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		7	1181	-			302			PI-PLC X-box.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.904G>A	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963037	0.53507	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	5.11	5.11	0.69529	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.120176	0.56097	D	0.000035	T	0.40145	0.1105	L	0.28400	0.85	0.58432	D	0.999998	B;B;B	0.24258	0.082;0.1;0.0	B;B;B	0.29267	0.06;0.1;0.005	T	0.24799	-1.0150	10	0.41790	T	0.15	.	15.6357	0.76949	0.0:0.8627:0.1373:0.0	.	284;302;302	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	N	302;284;302;302;284;284	ENSP00000419100:D302N;ENSP00000417502:D284N;ENSP00000402759:D302N;ENSP00000345988:D302N;ENSP00000335469:D284N;ENSP00000412977:D284N	ENSP00000335469:D284N	D	-	1	0	PLCH1	156765527	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.666000	0.46799	2.371000	0.80710	0.655000	0.94253	GAT		PASS	0.463	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		35	214	35	214	---	---	---	---
ACTRT3	84517	broad.mit.edu	37	3	169485535	169485535	+	Silent	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr3:169485535G>T	ENST00000330368.2	-	2	1178	c.804C>A	c.(802-804)gcC>gcA	p.A268A	RP11-816J6.3_ENST00000602879.1_RNA|TERC_ENST00000602385.1_lincRNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	268						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)		p.A268A(1)									CAATGCCAGGGGCCTCAAGGT	0.468																																						uc003ffs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(802-804)GCC>GCA		actin related protein M1							86.0	99.0	95.0					3																	169485535		2203	4300	6503	SO:0001819	synonymous_variant	84517					cytoplasm|cytoskeleton		g.chr3:169485535G>T	AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.804C>A	3.37:g.169485535G>T						TERC_uc003ffr.1_5'Flank	p.A268A	NM_032487	NP_115876	Q9BYD9	ARPM1_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		2	1179	-	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		268					Q96IS0|Q96NJ0	Silent	SNP	ENST00000330368.2	37	c.804C>A	CCDS3206.1																																																																																				PASS	0.468	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467797.1	NM_032487		195	251	195	251	---	---	---	---
CCDC39	339829	broad.mit.edu	37	3	180366077	180366077	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr3:180366077G>T	ENST00000442201.2	-	10	1357	c.1238C>A	c.(1237-1239)aCa>aAa	p.T413K	CCDC39_ENST00000273654.4_Missense_Mutation_p.T497K	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	413					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.T413K(1)|p.T497K(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTCTTTCATTGTCTCAGTCTG	0.353																																						uc010hxe.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1237-1239)ACA>AAA		coiled-coil domain containing 39							148.0	139.0	142.0					3																	180366077		1833	4079	5912	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180366077G>T	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1238C>A	3.37:g.180366077G>T	ENSP00000405708:p.Thr413Lys					CCDC39_uc003fkn.2_RNA	p.T413K	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		10	1353	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		413			Potential.		B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.1238C>A	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	G	1.184	-0.637234	0.03557	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.21191	2.02;2.02	5.37	-0.367	0.12541	.	0.542431	0.20285	N	0.095367	T	0.06142	0.0159	N	0.04636	-0.2	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.39623	-0.9605	10	0.02654	T	1	-2.726	5.8066	0.18444	0.0774:0.1062:0.189:0.6275	.	413	Q9UFE4	CCD39_HUMAN	K	497;413	ENSP00000273654:T497K;ENSP00000405708:T413K	ENSP00000273654:T497K	T	-	2	0	CCDC39	181848771	0.001000	0.12720	0.920000	0.36463	0.919000	0.55068	0.159000	0.16442	-0.061000	0.13110	0.558000	0.71614	ACA		PASS	0.353	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		196	207	196	207	---	---	---	---
ZNF518B	85460	broad.mit.edu	37	4	10446229	10446229	+	Missense_Mutation	SNP	T	T	C	rs375570304		TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr4:10446229T>C	ENST00000326756.3	-	3	2162	c.1724A>G	c.(1723-1725)aAc>aGc	p.N575S		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	575					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.N575S(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CTCTGTCTGGTTATCTTCCTG	0.373																																						uc003gmn.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(1723-1725)AAC>AGC		zinc finger protein 518B							93.0	88.0	90.0					4																	10446229		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10446229T>C	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.1724A>G	4.37:g.10446229T>C	ENSP00000317614:p.Asn575Ser						p.N575S	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN			3	2211	-			575					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.1724A>G	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	T	8.202	0.798424	0.16397	.	.	ENSG00000178163	ENST00000326756	T	0.01484	4.84	5.15	-8.87	0.00792	.	1.471350	0.03957	N	0.289469	T	0.00724	0.0024	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47328	-0.9126	10	0.02654	T	1	-1.4755	4.2439	0.10662	0.1058:0.4081:0.3142:0.1719	.	575	Q9C0D4	Z518B_HUMAN	S	575	ENSP00000317614:N575S	ENSP00000317614:N575S	N	-	2	0	ZNF518B	10055327	0.000000	0.05858	0.000000	0.03702	0.217000	0.24651	-0.312000	0.08113	-1.339000	0.02230	-0.313000	0.08912	AAC		PASS	0.373	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		101	142	101	142	---	---	---	---
GBA3	57733	broad.mit.edu	37	4	22749453	22749453	+	RNA	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr4:22749453C>A	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.S274Y(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAGATTGCCTCCATGAGTCAA	0.408																																						uc003gqp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(820-822)TCC>TAC		cytosolic beta-glucosidase isoform a							62.0	61.0	61.0					4																	22749453		1871	4117	5988			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22749453C>A	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749453C>A						GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.S275Y	p.S274Y	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			3	912	+			274					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	ENST00000503442.1	37	c.821C>A																																																																																					PASS	0.408	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			18	31	18	31	---	---	---	---
BEND4	389206	broad.mit.edu	37	4	42145884	42145884	+	Silent	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr4:42145884G>A	ENST00000502486.1	-	3	1194	c.615C>T	c.(613-615)ggC>ggT	p.G205G	BEND4_ENST00000504360.1_Silent_p.G201G	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	205								p.G201G(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TGTAACTTGAGCCTTCCTGCT	0.468																																						uc003gwn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(613-615)GGC>GGT		BEN domain containing 4 isoform a							89.0	87.0	88.0					4																	42145884		1925	4145	6070	SO:0001819	synonymous_variant	389206							g.chr4:42145884G>A	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.615C>T	4.37:g.42145884G>A						BEND4_uc003gwm.2_Silent_p.G205G|BEND4_uc011byy.1_Silent_p.G205G	p.G205G	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN			3	1195	-			205					A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Silent	SNP	ENST00000502486.1	37	c.615C>T	CCDS47048.1																																																																																				PASS	0.468	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360975.2	NM_207406		16	32	16	32	---	---	---	---
ATP8A1	10396	broad.mit.edu	37	4	42576678	42576678	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr4:42576678A>T	ENST00000381668.5	-	14	1484	c.1253T>A	c.(1252-1254)gTa>gAa	p.V418E	ATP8A1_ENST00000264449.10_Missense_Mutation_p.V418E	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	418					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.V418E(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AAACTGCATTACATTGCATGT	0.308																																						uc003gwr.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.(1252-1254)GTA>GAA		ATPase, aminophospholipid transporter (APLT),	Phosphatidylserine(DB00144)						61.0	62.0	62.0					4																	42576678		2203	4299	6502	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42576678A>T	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1253T>A	4.37:g.42576678A>T	ENSP00000371084:p.Val418Glu					ATP8A1_uc003gws.2_Missense_Mutation_p.V418E|ATP8A1_uc011byz.1_Missense_Mutation_p.V418E	p.V418E	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			14	1485	-			418			Cytoplasmic (Potential).		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.1253T>A	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.112797	0.77210	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.64991	-0.13;-0.13	5.53	5.53	0.82687	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.68742	0.3034	L	0.31926	0.97	0.80722	D	1	D;P;P	0.61697	0.99;0.482;0.635	D;P;P	0.67900	0.954;0.461;0.461	T	0.66862	-0.5816	10	0.32370	T	0.25	.	15.6709	0.77274	1.0:0.0:0.0:0.0	.	418;418;418	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	E	418	ENSP00000371084:V418E;ENSP00000264449:V418E	ENSP00000264449:V418E	V	-	2	0	ATP8A1	42271435	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.257000	0.95545	2.099000	0.63709	0.482000	0.46254	GTA		PASS	0.308	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		44	46	44	46	---	---	---	---
KCTD8	386617	broad.mit.edu	37	4	44177251	44177251	+	Silent	SNP	T	T	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr4:44177251T>A	ENST00000360029.3	-	2	1261	c.978A>T	c.(976-978)atA>atT	p.I326I		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	326					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)		p.I326I(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TAGGTGATACTATTTTCTGAG	0.348										HNSCC(17;0.042)																												uc003gwu.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(976-978)ATA>ATT		potassium channel tetramerisation domain							77.0	75.0	75.0					4																	44177251		2203	4300	6503	SO:0001819	synonymous_variant	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44177251T>A	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.978A>T	4.37:g.44177251T>A		HNSCC(17;0.042)					p.I326I	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			2	1262	-			326					A2RU39	Silent	SNP	ENST00000360029.3	37	c.978A>T	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	T	6.189	0.403048	0.11696	.	.	ENSG00000183783	ENST00000515268	.	.	.	4.65	1.91	0.25777	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.1538	0.03807	0.157:0.104:0.1422:0.5968	.	.	.	.	L	62	.	.	X	-	2	0	KCTD8	43872008	0.897000	0.30589	1.000000	0.80357	0.971000	0.66376	-0.229000	0.09098	0.853000	0.35312	0.477000	0.44152	TAG		PASS	0.348	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			35	53	35	53	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66230755	66230755	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr4:66230755A>G	ENST00000273854.3	-	12	2816	c.2216T>C	c.(2215-2217)tTa>tCa	p.L739S	EPHA5_ENST00000354839.4_Missense_Mutation_p.L717S|EPHA5_ENST00000511294.1_Missense_Mutation_p.L740S|EPHA5_ENST00000432638.2_Missense_Mutation_p.L576S	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	739	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.L739S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CACACCTTCTAAATGGATGAT	0.358										TSP Lung(17;0.13)																												uc003hcy.2																			1	Substitution - Missense(1)		lung(1)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(2215-2217)TTA>TCA		ephrin receptor EphA5 isoform a precursor							196.0	187.0	190.0					4																	66230755		2203	4299	6502	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66230755A>G	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2216T>C	4.37:g.66230755A>G	ENSP00000273854:p.Leu739Ser	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.L671S|EPHA5_uc003hcz.2_Missense_Mutation_p.L717S|EPHA5_uc011cah.1_Missense_Mutation_p.L740S|EPHA5_uc011cai.1_Missense_Mutation_p.L718S|EPHA5_uc003hda.2_Missense_Mutation_p.L740S	p.L739S	NM_004439	NP_004430	P54756	EPHA5_HUMAN			12	2409	-			739			Cytoplasmic (Potential).|Protein kinase.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.2216T>C	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740285	0.89573	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	5.97	5.97	0.96955	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45606	D	0.000349	D	0.87042	0.6079	H	0.94847	3.59	0.58432	D	0.999992	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.90542	0.4503	10	0.87932	D	0	.	16.4461	0.83932	1.0:0.0:0.0:0.0	.	718;740;717;739	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	S	739;576;717;740	ENSP00000273854:L739S;ENSP00000389208:L576S;ENSP00000346899:L717S;ENSP00000427638:L740S	ENSP00000273854:L739S	L	-	2	0	EPHA5	65913350	1.000000	0.71417	0.994000	0.49952	0.947000	0.59692	9.297000	0.96120	2.285000	0.76669	0.528000	0.53228	TTA		PASS	0.358	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		100	131	100	131	---	---	---	---
CSN3	1448	broad.mit.edu	37	4	71115032	71115032	+	Silent	SNP	T	T	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr4:71115032T>C	ENST00000304954.3	+	4	491	c.405T>C	c.(403-405)aaT>aaC	p.N135N		NM_005212.2	NP_005203.2	Q9UNS2	CSN3_HUMAN	casein kappa	352					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)		p.N135N(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CTACCATCAATACCATTGCTA	0.483																																						uc003hfe.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(403-405)AAT>AAC		casein kappa precursor							90.0	85.0	87.0					4																	71115032		2203	4300	6503	SO:0001819	synonymous_variant	1448					extracellular region	protein binding	g.chr4:71115032T>C	U51899	CCDS3538.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000171209	ENSG00000171209			2446	protein-coding gene	gene with protein product		601695	"""casein, kappa"""	CSN10		8863730, 9050925	Standard	NM_005212		Approved		uc003hfe.4	P07498	OTTHUMG00000129399	ENST00000304954.3:c.405T>C	4.37:g.71115032T>C							p.N135N	NM_005212	NP_005203	P07498	CASK_HUMAN			4	463	+			135					B2R683|B4DY81|O43191|Q7LDR6	Silent	SNP	ENST00000304954.3	37	c.405T>C	CCDS3538.1																																																																																				PASS	0.483	CSN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251555.1	NM_005212		33	49	33	49	---	---	---	---
AMTN	401138	broad.mit.edu	37	4	71396799	71396799	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr4:71396799G>T	ENST00000339336.4	+	8	531	c.401G>T	c.(400-402)gGa>gTa	p.G134V	AMTN_ENST00000504451.1_Missense_Mutation_p.G133V	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	134					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|odontogenesis of dentin-containing tooth (GO:0042475)	basal lamina (GO:0005605)|cell-cell junction (GO:0005911)|proteinaceous extracellular matrix (GO:0005578)		p.G134V(1)		NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			TTGTTCCCGGGAGGCATCCTG	0.512																																						uc003hfk.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(400-402)GGA>GTA		amelotin precursor							43.0	43.0	43.0					4																	71396799		2203	4300	6503	SO:0001583	missense	401138				biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction		g.chr4:71396799G>T	AY358528	CCDS3542.1, CCDS68716.1	4q13.3	2006-12-12			ENSG00000187689	ENSG00000187689			33188	protein-coding gene	gene with protein product		610912				16304441	Standard	NM_001286731		Approved	UNQ689, RSTI689	uc003hfk.1	Q6UX39	OTTHUMG00000129906	ENST00000339336.4:c.401G>T	4.37:g.71396799G>T	ENSP00000341013:p.Gly134Val					AMTN_uc010ihy.1_Missense_Mutation_p.G133V	p.G134V	NM_212557	NP_997722	Q6UX39	AMTN_HUMAN	Lung(101;0.235)		8	490	+			134					Q0P503|Q0P506	Missense_Mutation	SNP	ENST00000339336.4	37	c.401G>T	CCDS3542.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877588	0.51801	.	.	ENSG00000187689	ENST00000339336;ENST00000504451	T;T	0.80994	-1.44;-1.44	5.6	4.76	0.60689	.	0.104847	0.43110	D	0.000613	D	0.83004	0.5160	L	0.32530	0.975	0.54753	D	0.999987	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	D	0.84095	0.0392	10	0.87932	D	0	-1.7765	10.2536	0.43383	0.0904:0.0:0.9096:0.0	.	133;134	Q6UX39-2;Q6UX39	.;AMTN_HUMAN	V	134;133	ENSP00000341013:G134V;ENSP00000422452:G133V	ENSP00000341013:G134V	G	+	2	0	AMTN	71431388	0.999000	0.42202	0.534000	0.28014	0.479000	0.33129	2.169000	0.42434	1.379000	0.46325	0.650000	0.86243	GGA		PASS	0.512	AMTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252157.1	NM_212557		25	31	25	31	---	---	---	---
GC	2638	broad.mit.edu	37	4	72622592	72622592	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr4:72622592T>C	ENST00000273951.8	-	8	1214	c.871A>G	c.(871-873)Aca>Gca	p.T291A	GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Missense_Mutation_p.T310A|RNA5SP163_ENST00000410304.1_RNA|GC_ENST00000513476.1_Missense_Mutation_p.T291A	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	291	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)	p.T291A(1)|p.T310A(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	GAATTCTTTGTGGATAAATTG	0.393																																						uc003hge.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(871-873)ACA>GCA		vitamin D-binding protein precursor	Cholecalciferol(DB00169)						62.0	64.0	63.0					4																	72622592		2203	4300	6503	SO:0001583	missense	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72622592T>C	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.871A>G	4.37:g.72622592T>C	ENSP00000273951:p.Thr291Ala					GC_uc003hgd.2_Missense_Mutation_p.T169A|GC_uc010iie.2_Missense_Mutation_p.T291A|GC_uc010iif.2_Missense_Mutation_p.T310A	p.T291A	NM_000583	NP_000574	P02774	VTDB_HUMAN	Lung(101;0.148)		8	1024	-		all_hematologic(202;0.107)	291			Albumin 2.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	c.871A>G	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	T	2.307	-0.358726	0.05138	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476	T;T;T	0.72394	-0.65;-0.65;-0.65	5.52	1.52	0.23074	.	0.748699	0.12879	N	0.431626	T	0.53142	0.1778	L	0.48362	1.52	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.002	T	0.34675	-0.9819	10	0.07175	T	0.84	.	3.2359	0.06765	0.3394:0.1353:0.0:0.5253	.	310;291	D6RAK8;D6RF35	.;.	A	291;310;291	ENSP00000273951:T291A;ENSP00000421725:T310A;ENSP00000426683:T291A	ENSP00000273951:T291A	T	-	1	0	GC	72841456	0.354000	0.24912	0.834000	0.33040	0.148000	0.21650	0.077000	0.14738	0.408000	0.25621	0.533000	0.62120	ACA		PASS	0.393	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			46	61	46	61	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79394605	79394606	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr4:79394605_79394606GG>CT	ENST00000264895.6	+	53	7976_7977	c.7536_7537GG>CT	c.(7534-7539)ttGGgg>ttCTgg	p.2512_2513LG>FW		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2512					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)	p.G2514W(1)|p.L2512F(1)|p.L2512_G2513>FW(1)|p.L2513F(1)|p.L2513_G2514>FW(1)|p.G2513W(1)		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						ATGTGAACTTGGGGTTGATTCG	0.416																																						uc003hlb.2																			6	Substitution - Missense(4)|Complex - compound substitution(2)		lung(6)	large_intestine(5)	5						c.(7534-7536)TTG>TTC|c.(7537-7539)GGG>TGG		Fraser syndrome 1																																				SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79394605G>C|g.chr4:79394606G>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	Exception_encountered	4.37:g.79394605_79394606delinsCT	ENSP00000264895:p.L2512_G2513delinsFW						p.L2512F|p.G2513W	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			53	7976|7977	+			2511|2512			CSPG 12.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.7536G>C|c.7537G>T	CCDS54771.1																																																																																				PASS	0.416	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				123|126	236|234	123	234	---	---	---	---
GPRIN3	285513	broad.mit.edu	37	4	90170412	90170412	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr4:90170412C>T	ENST00000609438.1	-	2	1368	c.850G>A	c.(850-852)Gtg>Atg	p.V284M	GPRIN3_ENST00000333209.4_Missense_Mutation_p.V284M	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	284								p.V284M(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GGCAGCGGCACCTTCTCTGGA	0.567																																						uc003hsm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(850-852)GTG>ATG		G protein-regulated inducer of neurite outgrowth							89.0	92.0	91.0					4																	90170412		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90170412C>T	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.850G>A	4.37:g.90170412C>T	ENSP00000476603:p.Val284Met						p.V284M	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	1369	-		Hepatocellular(203;0.114)	284					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.850G>A	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042847	0.36085	.	.	ENSG00000185477	ENST00000333209	T	0.11930	2.73	5.0	-1.71	0.08133	.	1.634440	0.04577	N	0.394305	T	0.08268	0.0206	L	0.27053	0.805	0.09310	N	1	B	0.28933	0.228	B	0.20955	0.032	T	0.32214	-0.9915	10	0.52906	T	0.07	0.0797	1.932	0.03329	0.1344:0.3451:0.1187:0.4018	.	284	Q6ZVF9	GRIN3_HUMAN	M	284	ENSP00000328672:V284M	ENSP00000328672:V284M	V	-	1	0	GPRIN3	90389435	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.132000	0.10467	-0.237000	0.09739	0.655000	0.94253	GTG		PASS	0.567	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		108	152	108	152	---	---	---	---
PDLIM5	10611	broad.mit.edu	37	4	95497089	95497089	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr4:95497089G>A	ENST00000317968.4	+	5	750	c.614G>A	c.(613-615)cGg>cAg	p.R205Q	PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000380180.3_Intron|PDLIM5_ENST00000450793.1_Intron|PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000508216.1_Intron|PDLIM5_ENST00000542407.1_Missense_Mutation_p.R83Q	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	205					regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)	p.R205Q(1)|p.?(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		AATGTCCCACGGCAGCCCACA	0.537																																						uc003hti.2																			2	Substitution - Missense(1)|Unknown(1)		lung(2)	ovary(1)|skin(1)	2						c.(613-615)CGG>CAG		PDZ and LIM domain 5 isoform a							87.0	75.0	79.0					4																	95497089		2203	4300	6503	SO:0001583	missense	10611				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	g.chr4:95497089G>A	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.614G>A	4.37:g.95497089G>A	ENSP00000321746:p.Arg205Gln					PDLIM5_uc003htf.2_Intron|PDLIM5_uc003htg.2_Intron|PDLIM5_uc011cdx.1_Intron|PDLIM5_uc003hth.2_Intron|PDLIM5_uc003htj.2_Intron|PDLIM5_uc003htk.2_Intron|PDLIM5_uc011cdy.1_Missense_Mutation_p.R83Q	p.R205Q	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)	5	765	+		Hepatocellular(203;0.114)	205					A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	c.614G>A	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.100109	0.37048	.	.	ENSG00000163110	ENST00000317968;ENST00000542407	T;T	0.59502	0.72;0.26	5.27	4.41	0.53225	.	0.144353	0.48286	D	0.000196	T	0.51805	0.1696	M	0.63428	1.95	0.40453	D	0.980161	B	0.24618	0.107	B	0.15484	0.013	T	0.50882	-0.8775	10	0.10111	T	0.7	.	15.8222	0.78662	0.0:0.1364:0.8636:0.0	.	205	Q96HC4	PDLI5_HUMAN	Q	205;83	ENSP00000321746:R205Q;ENSP00000442187:R83Q	ENSP00000321746:R205Q	R	+	2	0	PDLIM5	95716112	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.733000	0.68571	1.187000	0.43000	0.650000	0.86243	CGG		PASS	0.537	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			41	67	41	67	---	---	---	---
PDHA2	5161	broad.mit.edu	37	4	96762238	96762238	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr4:96762238G>T	ENST00000295266.4	+	1	1000	c.937G>T	c.(937-939)Gat>Tat	p.D313Y		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	313					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.D313Y(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		AAGTAAGAGGGATCCTATAAT	0.418																																						uc003htr.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(937-939)GAT>TAT		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						79.0	79.0	79.0					4																	96762238		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96762238G>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.937G>T	4.37:g.96762238G>T	ENSP00000295266:p.Asp313Tyr						p.D313Y	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	1000	+		Hepatocellular(203;0.114)	313					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.937G>T	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166596	0.38217	.	.	ENSG00000163114	ENST00000295266	D	0.97328	-4.34	4.91	4.07	0.47477	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.99165	0.9711	H	0.99507	4.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98472	1.0601	10	0.87932	D	0	-14.2544	13.4749	0.61303	0.0:0.158:0.842:0.0	.	313	P29803	ODPAT_HUMAN	Y	313	ENSP00000295266:D313Y	ENSP00000295266:D313Y	D	+	1	0	PDHA2	96981261	1.000000	0.71417	0.040000	0.18447	0.193000	0.23685	4.866000	0.63005	1.445000	0.47624	0.467000	0.42956	GAT		PASS	0.418	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			46	65	46	65	---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115997243	115997243	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr4:115997243C>A	ENST00000264363.2	-	2	1628	c.950G>T	c.(949-951)gGa>gTa	p.G317V		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	317	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.G317V(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CATCCTTGTTCCCTCTTTCCC	0.363																																						uc003ibu.2																			1	Substitution - Missense(1)	p.G317R(1)	lung(1)	skin(3)|ovary(1)	4						c.(949-951)GGA>GTA		heparan sulfate N-deacetylase/N-sulfotransferase							101.0	89.0	93.0					4																	115997243		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115997243C>A	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.950G>T	4.37:g.115997243C>A	ENSP00000264363:p.Gly317Val					NDST4_uc010imw.2_Intron	p.G317V	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	1629	-		Ovarian(17;0.156)	317			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.950G>T	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265211	0.80358	.	.	ENSG00000138653	ENST00000264363	T	0.48836	0.8	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.77308	0.4111	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81707	-0.0810	10	0.87932	D	0	.	20.0368	0.97565	0.0:1.0:0.0:0.0	.	317	Q9H3R1	NDST4_HUMAN	V	317	ENSP00000264363:G317V	ENSP00000264363:G317V	G	-	2	0	NDST4	116216692	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.770000	0.85390	2.727000	0.93392	0.591000	0.81541	GGA		PASS	0.363	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		85	89	85	89	---	---	---	---
SPCS3	60559	broad.mit.edu	37	4	177248312	177248312	+	Splice_Site	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr4:177248312G>T	ENST00000503362.1	+	4	407		c.e4-1		SPCS3_ENST00000507001.1_3'UTR	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)	p.?(1)		ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		TTTTAATATAGGCTCTGAACC	0.299																																						uc003iur.3																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e4-1		signal peptidase complex subunit 3							30.0	29.0	29.0					4																	177248312		1800	4061	5861	SO:0001630	splice_region_variant	60559				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity	g.chr4:177248312G>T	AK092634	CCDS54823.1	4q34.2	2008-02-05				ENSG00000129128			26212	protein-coding gene	gene with protein product						12477932	Standard	NM_021928		Approved	FLJ22649, SPC22/23, SPC3, YLR066W, PRO3567	uc003iur.4	P61009		ENST00000503362.1:c.295-1G>T	4.37:g.177248312G>T							p.A99_splice	NM_021928	NP_068747	P61009	SPCS3_HUMAN		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)	4	433	+		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)						P12280|Q9H0S7	Splice_Site	SNP	ENST00000503362.1	37	c.295_splice	CCDS54823.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745922	0.69418	.	.	ENSG00000129128	ENST00000503362	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5183	0.95174	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPCS3	177485306	1.000000	0.71417	0.997000	0.53966	0.876000	0.50452	9.444000	0.97578	2.633000	0.89246	0.655000	0.94253	.		PASS	0.299	SPCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362329.1	NM_021928	Intron	11	11	11	11	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19612679	19612679	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr5:19612679G>C	ENST00000507958.1	-	8	1665	c.675C>G	c.(673-675)gaC>gaG	p.D225E	CDH18_ENST00000511273.1_Missense_Mutation_p.D225E|CDH18_ENST00000274170.4_Missense_Mutation_p.D225E|CDH18_ENST00000506372.1_Missense_Mutation_p.D225E|CDH18_ENST00000502796.1_Missense_Mutation_p.D225E|CDH18_ENST00000382275.1_Missense_Mutation_p.D225E			Q13634	CAD18_HUMAN	cadherin 18, type 2	225	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D225E(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGGCTTCTCTGTCCATGTTAT	0.373																																						uc003jgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(673-675)GAC>GAG		cadherin 18, type 2 preproprotein							167.0	154.0	159.0					5																	19612679		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19612679G>C	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.675C>G	5.37:g.19612679G>C	ENSP00000425093:p.Asp225Glu					CDH18_uc003jgd.2_Missense_Mutation_p.D225E|CDH18_uc011cnm.1_Missense_Mutation_p.D225E	p.D225E	NM_004934	NP_004925	Q13634	CAD18_HUMAN			5	1052	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		225			Extracellular (Potential).|Cadherin 2.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.675C>G	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703179	0.68501	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.95	3.73	0.42828	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.83431	0.5253	H	0.95850	3.73	0.45554	D	0.998502	D;D	0.76494	0.999;0.999	D;D	0.91635	0.997;0.999	D	0.84435	0.0579	9	.	.	.	.	9.2634	0.37625	0.2176:0.0:0.7824:0.0	.	225;225	B4DHG6;Q13634	.;CAD18_HUMAN	E	225;225;225;225;225;225;171;225	ENSP00000371710:D225E;ENSP00000425093:D225E;ENSP00000274170:D225E;ENSP00000424931:D225E;ENSP00000422138:D225E;ENSP00000427383:D171E;ENSP00000425854:D225E	.	D	-	3	2	CDH18	19648436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.794000	0.62482	0.545000	0.28902	0.563000	0.77884	GAC		PASS	0.373	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		43	55	43	55	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26890021	26890021	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr5:26890021A>T	ENST00000231021.4	-	9	1608	c.1436T>A	c.(1435-1437)cTa>cAa	p.L479Q		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	479	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L479Q(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATTTATATCTAGAATTCTGAT	0.358																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1435-1437)CTA>CAA		cadherin 9, type 2 preproprotein							153.0	157.0	155.0					5																	26890021		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26890021A>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1436T>A	5.37:g.26890021A>T	ENSP00000231021:p.Leu479Gln					CDH9_uc011cnv.1_Missense_Mutation_p.L72Q	p.L479Q	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			9	1605	-			479			Extracellular (Potential).|Cadherin 4.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1436T>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.394261	0.83011	.	.	ENSG00000113100	ENST00000231021	T	0.61980	0.06	5.31	5.31	0.75309	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.64402	D	0.000002	D	0.82756	0.5106	M	0.91768	3.24	0.49389	D	0.999785	D;D	0.89917	0.997;1.0	D;D	0.83275	0.982;0.996	D	0.86701	0.1929	9	.	.	.	.	14.0813	0.64925	1.0:0.0:0.0:0.0	.	72;479	B4DFP0;Q9ULB4	.;CADH9_HUMAN	Q	479	ENSP00000231021:L479Q	.	L	-	2	0	CDH9	26925778	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.960000	0.76036	2.010000	0.58986	0.450000	0.29827	CTA		PASS	0.358	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		64	112	64	112	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26916006	26916006	+	Silent	SNP	A	A	G	rs149377000		TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr5:26916006A>G	ENST00000231021.4	-	3	427	c.255T>C	c.(253-255)gaT>gaC	p.D85D		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	85	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D85D(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTAAATTTCCATCTCCTTTAT	0.338																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(253-255)GAT>GAC		cadherin 9, type 2 preproprotein		A		1,4405		0,1,2202	77.0	79.0	78.0		255	-0.9	1.0	5	dbSNP_134	78	0,8596		0,0,4298	no	coding-synonymous	CDH9	NM_016279.3		0,1,6500	GG,GA,AA		0.0,0.0227,0.0077		85/790	26916006	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26916006A>G	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.255T>C	5.37:g.26916006A>G						CDH9_uc010iug.2_Silent_p.D85D	p.D85D	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			3	424	-			85			Extracellular (Potential).|Cadherin 1.		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.255T>C	CCDS3893.1																																																																																				PASS	0.338	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		81	103	81	103	---	---	---	---
CDH6	1004	broad.mit.edu	37	5	31294255	31294255	+	Missense_Mutation	SNP	G	G	C	rs575697118		TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr5:31294255G>C	ENST00000265071.2	+	3	680	c.415G>C	c.(415-417)Gtg>Ctg	p.V139L	CDH6_ENST00000514738.1_Missense_Mutation_p.V84L	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	139	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V139L(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGGGAGACCCGTGGAGCCCGA	0.478																																						uc003jhe.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|large_intestine(1)	7						c.(415-417)GTG>CTG		cadherin 6, type 2 preproprotein																																				SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31294255G>C	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.415G>C	5.37:g.31294255G>C	ENSP00000265071:p.Val139Leu					CDH6_uc003jhd.1_Missense_Mutation_p.V139L	p.V139L	NM_004932	NP_004923	P55285	CADH6_HUMAN			3	741	+			139			Extracellular (Potential).|Cadherin 1.		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.415G>C	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	G	6.422	0.446022	0.12164	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.45276	0.9;0.9	5.77	5.77	0.91146	Cadherin (4);Cadherin-like (1);	0.058806	0.64402	D	0.000002	T	0.19087	0.0458	N	0.01656	-0.775	0.50039	D	0.999845	B;B	0.16166	0.016;0.013	B;B	0.21151	0.033;0.009	T	0.27872	-1.0061	10	0.02654	T	1	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	139;139	P55285;P55285-2	CADH6_HUMAN;.	L	84;139	ENSP00000424843:V84L;ENSP00000265071:V139L	ENSP00000265071:V139L	V	+	1	0	CDH6	31330012	0.999000	0.42202	0.970000	0.41538	0.983000	0.72400	3.040000	0.49799	2.885000	0.99019	0.655000	0.94253	GTG		PASS	0.478	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		122	141	122	141	---	---	---	---
RXFP3	51289	broad.mit.edu	37	5	33937805	33937805	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr5:33937805A>T	ENST00000330120.3	+	1	1315	c.960A>T	c.(958-960)agA>agT	p.R320S		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	320					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)	p.R320S(1)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GCGCCCGGAGACTGTCGAAGG	0.657																																						uc003jic.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(958-960)AGA>AGT		relaxin/insulin-like family peptide receptor 3							45.0	39.0	41.0					5																	33937805		2203	4300	6503	SO:0001583	missense	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937805A>T	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.960A>T	5.37:g.33937805A>T	ENSP00000328708:p.Arg320Ser						p.R320S	NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN			1	1317	+			320			Cytoplasmic (Potential).		Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	c.960A>T	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	A	13.59	2.283758	0.40394	.	.	ENSG00000182631	ENST00000330120	T	0.71579	-0.58	5.88	2.27	0.28462	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71358	0.3330	L	0.46947	1.48	0.40008	D	0.975252	D	0.71674	0.998	D	0.74023	0.982	T	0.68078	-0.5504	10	0.35671	T	0.21	-9.0102	1.5029	0.02480	0.3136:0.177:0.3606:0.1488	.	320	Q9NSD7	RL3R1_HUMAN	S	320	ENSP00000328708:R320S	ENSP00000328708:R320S	R	+	3	2	RXFP3	33973562	0.981000	0.34729	0.992000	0.48379	0.041000	0.13682	0.216000	0.17585	0.497000	0.27926	0.533000	0.62120	AGA		PASS	0.657	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		13	19	13	19	---	---	---	---
SLC45A2	51151	broad.mit.edu	37	5	33984499	33984499	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr5:33984499C>A	ENST00000296589.4	-	1	336	c.190G>T	c.(190-192)Ggt>Tgt	p.G64C	SLC45A2_ENST00000342059.3_Missense_Mutation_p.G64C|SLC45A2_ENST00000345083.5_Missense_Mutation_p.G64C|SLC45A2_ENST00000382102.3_Missense_Mutation_p.G64C|SLC45A2_ENST00000509381.1_Missense_Mutation_p.G64C	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	64			G -> S (in OCA4). {ECO:0000269|PubMed:17768386}.		developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.G64C(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CTGGGCAGACCTACGCTGAGC	0.617																																					Ovarian(31;380 859 8490 22203 49048)	uc003jid.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	GRCh37	HM0681	SLC45A2	M		c.(190-192)GGT>TGT		membrane-associated transporter protein isoform							59.0	49.0	52.0					5																	33984499		2203	4300	6503	SO:0001583	missense	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33984499C>A	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.190G>T	5.37:g.33984499C>A	ENSP00000296589:p.Gly64Cys					SLC45A2_uc003jie.2_Missense_Mutation_p.G64C|SLC45A2_uc003jif.3_Missense_Mutation_p.G64C|SLC45A2_uc011coe.1_Missense_Mutation_p.G64C	p.G64C	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN			1	282	-			64			Helical; Name=1; (Potential).		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	c.190G>T	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.988350	0.93106	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000509381;ENST00000345083	D;D;D;D;D	0.97066	-4.23;-4.23;-4.23;-4.23;-4.23	5.62	5.62	0.85841	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.98893	0.9625	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99509	1.0955	10	0.87932	D	0	-17.2005	19.6584	0.95853	0.0:1.0:0.0:0.0	.	64;64;64	D6RGY6;Q9UMX9-4;Q9UMX9	.;.;S45A2_HUMAN	C	64	ENSP00000296589:G64C;ENSP00000341014:G64C;ENSP00000371534:G64C;ENSP00000421100:G64C;ENSP00000340444:G64C	ENSP00000296589:G64C	G	-	1	0	SLC45A2	34020256	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.762000	0.85270	2.645000	0.89757	0.551000	0.68910	GGT		PASS	0.617	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		23	22	23	22	---	---	---	---
UGT3A1	133688	broad.mit.edu	37	5	35954499	35954499	+	Silent	SNP	G	G	A	rs201908500	byFrequency	TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr5:35954499G>A	ENST00000274278.3	-	7	1734	c.1377C>T	c.(1375-1377)atC>atT	p.I459I	UGT3A1_ENST00000513233.1_5'Flank	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	459						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.I459I(1)		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)			GGATGTGGTCGATCCAGCCCA	0.602													G|||	3	0.000599042	0.0	0.0	5008	,	,		17348	0.003		0.0	False		,,,				2504	0.0					uc003jjv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1375-1377)ATC>ATT		UDP glycosyltransferase 3 family, polypeptide A1							63.0	52.0	55.0					5																	35954499		2203	4300	6503	SO:0001819	synonymous_variant	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35954499G>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.1377C>T	5.37:g.35954499G>A						UGT3A1_uc003jjw.1_RNA	p.I459I	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)		7	1534	-	all_lung(31;0.000197)		459			Extracellular (Potential).		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Silent	SNP	ENST00000274278.3	37	c.1377C>T	CCDS3913.1																																																																																				PASS	0.602	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		21	31	21	31	---	---	---	---
LMBRD2	92255	broad.mit.edu	37	5	36136480	36136480	+	Silent	SNP	C	C	G	rs144023598	byFrequency	TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr5:36136480C>G	ENST00000296603.4	-	6	1140	c.678G>C	c.(676-678)acG>acC	p.T226T		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	226						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T226T(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTTAAAATACGTTTTCATAA	0.413																																						uc003jkb.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(676-678)ACG>ACC		LMBR1 domain containing 2							235.0	230.0	232.0					5																	36136480		2203	4300	6503	SO:0001819	synonymous_variant	92255					integral to membrane		g.chr5:36136480C>G		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.678G>C	5.37:g.36136480C>G							p.T226T	NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	1093	-	all_lung(31;0.000146)		226			Cytoplasmic (Potential).		B3KRB6|Q9NTC7	Silent	SNP	ENST00000296603.4	37	c.678G>C	CCDS34145.1																																																																																				PASS	0.413	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		177	254	177	254	---	---	---	---
NUP155	9631	broad.mit.edu	37	5	37350275	37350275	+	Silent	SNP	C	C	A	rs367775093		TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr5:37350275C>A	ENST00000231498.3	-	7	1019	c.816G>T	c.(814-816)acG>acT	p.T272T	NUP155_ENST00000513532.1_Silent_p.T272T|NUP155_ENST00000381843.2_Silent_p.T213T	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	272					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.T272T(1)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTCTGAGAACGTGAATTGTA	0.358																																						uc003jku.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(814-816)ACG>ACT		nucleoporin 155kDa isoform 1							140.0	137.0	138.0					5																	37350275		2203	4300	6503	SO:0001819	synonymous_variant	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37350275C>A	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.816G>T	5.37:g.37350275C>A						NUP155_uc003jkt.1_Silent_p.T213T|NUP155_uc010iuz.1_Silent_p.T272T	p.T272T	NM_153485	NP_705618	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	934	-	all_lung(31;0.000137)		272					Q9UBE9|Q9UFL5	Silent	SNP	ENST00000231498.3	37	c.816G>T	CCDS3921.1																																																																																				PASS	0.358	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		75	92	75	92	---	---	---	---
RICTOR	253260	broad.mit.edu	37	5	38962427	38962427	+	Nonsense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr5:38962427G>A	ENST00000357387.3	-	19	1735	c.1705C>T	c.(1705-1707)Cag>Tag	p.Q569*	RICTOR_ENST00000503698.1_5'Flank|RICTOR_ENST00000296782.5_Nonsense_Mutation_p.Q569*	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.Q569*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTGTGTAACTGTTCATCTTTA	0.239																																						uc003jlp.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10						c.(1705-1707)CAG>TAG		rapamycin-insensitive companion of mTOR							25.0	28.0	27.0					5																	38962427		2137	4204	6341	SO:0001587	stop_gained	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38962427G>A		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.1705C>T	5.37:g.38962427G>A	ENSP00000349959:p.Gln569*					RICTOR_uc003jlo.2_Nonsense_Mutation_p.Q569*|RICTOR_uc010ivf.2_Nonsense_Mutation_p.Q284*	p.Q569*	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			19	1729	-	all_lung(31;0.000396)		569						Nonsense_Mutation	SNP	ENST00000357387.3	37	c.1705C>T	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	G	36	5.914787	0.97099	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	.	.	.	4.95	4.95	0.65309	.	0.117593	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.2806	14.9784	0.71293	0.0:0.0:0.8569:0.1431	.	.	.	.	X	569	.	ENSP00000296782:Q569X	Q	-	1	0	RICTOR	38998184	1.000000	0.71417	0.995000	0.50966	0.962000	0.63368	5.385000	0.66231	2.453000	0.82957	0.467000	0.42956	CAG		PASS	0.239	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		25	39	25	39	---	---	---	---
CARD6	84674	broad.mit.edu	37	5	40854526	40854526	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr5:40854526A>T	ENST00000254691.5	+	3	3291	c.3092A>T	c.(3091-3093)cAg>cTg	p.Q1031L	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	1031					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)			p.Q1031L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AAAGCAGGGCAGAAGAGGGGA	0.488																																						uc003jmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(3091-3093)CAG>CTG		caspase recruitment domain family, member 6							139.0	144.0	142.0					5																	40854526		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40854526A>T	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.3092A>T	5.37:g.40854526A>T	ENSP00000254691:p.Gln1031Leu						p.Q1031L	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			3	3167	+			1031					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.3092A>T	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.540940	0.00934	.	.	ENSG00000132357	ENST00000254691	T	0.12569	2.67	4.02	2.15	0.27550	.	0.739778	0.11405	N	0.567404	T	0.05273	0.0140	N	0.03608	-0.345	0.33112	D	0.540612	B	0.02656	0.0	B	0.01281	0.0	T	0.26573	-1.0099	10	0.40728	T	0.16	-0.6633	2.76	0.05303	0.1875:0.5268:0.1817:0.1039	.	1031	Q9BX69	CARD6_HUMAN	L	1031	ENSP00000254691:Q1031L	ENSP00000254691:Q1031L	Q	+	2	0	CARD6	40890283	0.398000	0.25279	0.499000	0.27577	0.010000	0.07245	0.429000	0.21412	0.104000	0.17725	-1.409000	0.01127	CAG		PASS	0.488	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			136	193	136	193	---	---	---	---
OXCT1	5019	broad.mit.edu	37	5	41853522	41853522	+	Splice_Site	SNP	T	T	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr5:41853522T>A	ENST00000196371.5	-	4	573	c.413A>T	c.(412-414)cAg>cTg	p.Q138L		NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	138					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)	p.Q138L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TTTTCTCACCTGTGGTGTCAG	0.363																																						uc003jmn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(412-414)CAG>CTG		3-oxoacid CoA transferase 1 precursor	Succinic acid(DB00139)						80.0	75.0	77.0					5																	41853522		2203	4300	6503	SO:0001630	splice_region_variant	5019				cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	g.chr5:41853522T>A	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"""3-oxoacid CoA transferase"""	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.414+1A>T	5.37:g.41853522T>A							p.Q138L	NM_000436	NP_000427	P55809	SCOT1_HUMAN			4	744	-			138					B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	37	c.413A>T	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.733838	0.89482	.	.	ENSG00000083720	ENST00000196371;ENST00000546045	D	0.90385	-2.66	5.26	5.26	0.73747	3-oxoacid CoA-transferase, subunit A (1);	0.131469	0.52532	D	0.000071	D	0.96812	0.8959	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.98104	1.0416	10	0.87932	D	0	-1.1336	15.1843	0.72986	0.0:0.0:0.0:1.0	.	138	P55809	SCOT1_HUMAN	L	138;50	ENSP00000196371:Q138L	ENSP00000196371:Q138L	Q	-	2	0	OXCT1	41889279	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.767000	0.85331	1.993000	0.58246	0.455000	0.32223	CAG		PASS	0.363	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436	Missense_Mutation	59	71	59	71	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45303823	45303823	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr5:45303823C>A	ENST00000303230.4	-	6	1553	c.1496G>T	c.(1495-1497)gGa>gTa	p.G499V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	499					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.G499V(2)|p.G499L(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GATATAATCTCCAGGTTGAAA	0.408																																						uc003jok.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(1495-1497)GGA>GTA		hyperpolarization activated cyclic							114.0	115.0	115.0					5																	45303823		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45303823C>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1496G>T	5.37:g.45303823C>A	ENSP00000307342:p.Gly499Val						p.G499V	NM_021072	NP_066550	O60741	HCN1_HUMAN			6	1521	-			499			cAMP.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.1496G>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.278810	0.80692	.	.	ENSG00000164588	ENST00000303230	D	0.96265	-3.96	5.62	5.62	0.85841	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000003	D	0.98991	0.9656	H	0.99197	4.465	0.80722	D	1	D	0.61080	0.989	P	0.60682	0.878	D	0.99026	1.0819	10	0.87932	D	0	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	499	O60741	HCN1_HUMAN	V	499	ENSP00000307342:G499V	ENSP00000307342:G499V	G	-	2	0	HCN1	45339580	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.023000	0.49666	2.809000	0.96659	0.655000	0.94253	GGA		PASS	0.408	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		91	128	91	128	---	---	---	---
CETN3	1070	broad.mit.edu	37	5	89703555	89703555	+	Silent	SNP	A	A	G			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr5:89703555A>G	ENST00000283122.3	-	2	238	c.114T>C	c.(112-114)gaT>gaC	p.D38D	CETN3_ENST00000522083.1_Silent_p.D38D|CETN3_ENST00000522565.1_Silent_p.D38D|CETN3_ENST00000522842.1_Silent_p.D38D|CETN3_ENST00000522864.1_Silent_p.D38D	NM_004365.2	NP_004356.2	O15182	CETN3_HUMAN	centrin, EF-hand protein, 3	38	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centrosome cycle (GO:0007098)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|photoreceptor connecting cilium (GO:0032391)	calcium ion binding (GO:0005509)	p.D38D(1)		lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		CTTTGTCTGTATCAAATAGTT	0.294																																						uc003kjo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(112-114)GAT>GAC		centrin 3							115.0	110.0	111.0					5																	89703555		2201	4293	6494	SO:0001819	synonymous_variant	1070				cell division|centrosome cycle|mitosis	centriole	calcium ion binding	g.chr5:89703555A>G	Y12473	CCDS4066.1, CCDS75274.1	5q14.3	2013-01-10	2010-06-24		ENSG00000153140	ENSG00000153140		"""EF-hand domain containing"""	1868	protein-coding gene	gene with protein product	"""CDC31 yeast homolog"", ""EF-hand superfamily member"""	602907	"""centrin, EF-hand protein, 3 (CDC31 yeast homolog)"""			9256449	Standard	XM_006714521		Approved	CEN3	uc003kjo.3	O15182	OTTHUMG00000131326	ENST00000283122.3:c.114T>C	5.37:g.89703555A>G							p.D38D	NM_004365	NP_004356	O15182	CETN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)	2	239	-		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	38			1 (Potential).|EF-hand 1.		Q53YD2|Q9BS23	Silent	SNP	ENST00000283122.3	37	c.114T>C	CCDS4066.1																																																																																				PASS	0.294	CETN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254097.1	NM_004365		45	10	45	10	---	---	---	---
DCANP1	140947	broad.mit.edu	37	5	134782580	134782580	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr5:134782580G>C	ENST00000503143.2	-	1	458	c.219C>G	c.(217-219)aaC>aaG	p.N73K	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN		73						nucleus (GO:0005634)		p.N73K(1)		endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCAAGGTTTTGTTCCTCCCTG	0.602																																						uc003lav.2																			1	Substitution - Missense(1)		lung(1)		0						c.(217-219)AAC>AAG		dendritic cell nuclear protein 1							28.0	31.0	30.0					5																	134782580		2203	4300	6503	SO:0001583	missense	140947					nucleus		g.chr5:134782580G>C																												ENST00000503143.2:c.219C>G	5.37:g.134782580G>C	ENSP00000421871:p.Asn73Lys						p.N73K	NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	459	-			73						Missense_Mutation	SNP	ENST00000503143.2	37	c.219C>G	CCDS4186.1	.	.	.	.	.	.	.	.	.	.	G	3.824	-0.037101	0.07497	.	.	ENSG00000251380	ENST00000503143	T	0.36878	1.23	3.15	-2.11	0.07187	.	.	.	.	.	T	0.15998	0.0385	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.17098	0.017	T	0.20240	-1.0281	9	0.87932	D	0	.	3.4714	0.07569	0.4634:0.0:0.3534:0.1832	.	73	Q8TF63	DCNP1_HUMAN	K	73	ENSP00000421871:N73K	ENSP00000421871:N73K	N	-	3	2	C5orf20	134810479	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.507000	0.06352	-0.549000	0.06191	-0.424000	0.05967	AAC		PASS	0.602	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			27	35	27	35	---	---	---	---
WDR55	54853	broad.mit.edu	37	5	140048089	140048089	+	Splice_Site	SNP	T	T	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr5:140048089T>C	ENST00000358337.5	+	3	617		c.e3+2			NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55						rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)		p.?(1)		NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTCATGGGTAAGGAGAGCA	0.512																																						uc003lgr.3																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e3+2		WD repeat domain 55							130.0	121.0	124.0					5																	140048089		2203	4300	6503	SO:0001630	splice_region_variant	54853				rRNA processing	cytoplasm|nucleolus		g.chr5:140048089T>C	AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"""WD repeat domain containing"""	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.380+2T>C	5.37:g.140048089T>C						WDR55_uc011czl.1_5'Flank	p.G127_splice	NM_017706	NP_060176	Q9H6Y2	WDR55_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	494	+								Q9NXK4	Splice_Site	SNP	ENST00000358337.5	37	c.380_splice	CCDS4235.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.577367	0.28180	.	.	ENSG00000120314	ENST00000358337	.	.	.	5.36	4.12	0.48240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.34	0.43873	0.1472:0.0:0.0:0.8528	.	.	.	.	.	-1	.	.	.	+	.	.	WDR55	140028273	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	6.039000	0.70972	2.028000	0.59812	0.254000	0.18369	.		PASS	0.512	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3	NM_017706	Intron	86	93	86	93	---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141334818	141334818	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr5:141334818C>T	ENST00000231484.3	-	1	3809	c.2599G>A	c.(2599-2601)Gag>Aag	p.E867K	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	867					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E867K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGGGGCTCGGGAAGGTTC	0.652																																						uc003llx.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2599-2601)GAG>AAG		protocadherin 12 precursor							39.0	41.0	40.0					5																	141334818		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141334818C>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2599G>A	5.37:g.141334818C>T	ENSP00000231484:p.Glu867Lys						p.E867K	NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3810	-		all_hematologic(541;0.0999)	867			Cytoplasmic (Potential).		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.2599G>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	C	9.382	1.073239	0.20147	.	.	ENSG00000113555	ENST00000231484	T	0.51817	0.69	4.65	4.65	0.58169	.	0.389179	0.26380	N	0.024708	T	0.38852	0.1056	L	0.57536	1.79	0.32435	N	0.547486	P	0.38370	0.628	B	0.25140	0.058	T	0.57516	-0.7798	10	0.42905	T	0.14	.	13.2073	0.59805	0.0:1.0:0.0:0.0	.	867	Q9NPG4	PCD12_HUMAN	K	867	ENSP00000231484:E867K	ENSP00000231484:E867K	E	-	1	0	PCDH12	141315002	0.123000	0.22298	0.997000	0.53966	0.087000	0.18053	1.566000	0.36396	2.588000	0.87417	0.561000	0.74099	GAG		PASS	0.652	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		41	44	41	44	---	---	---	---
ANXA6	309	broad.mit.edu	37	5	150502573	150502573	+	Splice_Site	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr5:150502573C>T	ENST00000354546.5	-	16	1366		c.e16-1		ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000523714.1_Splice_Site|ANXA6_ENST00000521512.1_Splice_Site|ANXA6_ENST00000356496.5_Splice_Site	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6						calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)	p.?(2)		endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCGTCAGTCCCTGAGTCACCA	0.567																																						uc003ltl.1																			2	Unknown(2)		lung(2)		0						c.e16-1		annexin VI isoform 1							125.0	130.0	128.0					5																	150502573		2121	4243	6364	SO:0001630	splice_region_variant	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150502573C>T	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1139-1G>A	5.37:g.150502573C>T						ANXA6_uc011dcp.1_Splice_Site_p.G348_splice|ANXA6_uc003ltm.1_Splice_Site_p.G380_splice|ANXA6_uc003ltn.1_Splice_Site_p.G173_splice|ANXA6_uc003lto.1_Intron	p.G380_splice	NM_001155	NP_001146	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		16	1291	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)						B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Splice_Site	SNP	ENST00000354546.5	37	c.1139_splice	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098284	0.37048	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000356496;ENST00000521512;ENST00000540153	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8414	0.88716	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANXA6	150482766	1.000000	0.71417	0.916000	0.36221	0.036000	0.12997	6.913000	0.75759	2.485000	0.83878	0.563000	0.77884	.		PASS	0.567	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155	Intron	82	85	82	85	---	---	---	---
HAVCR2	84868	broad.mit.edu	37	5	156535959	156535959	+	Silent	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr5:156535959C>A	ENST00000307851.4	-	1	766	c.36G>T	c.(34-36)ctG>ctT	p.L12L	HAVCR2_ENST00000522593.1_Silent_p.L12L|CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000517358.1_5'Flank	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	12						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L12L(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCAGCAGCAGCAGCAGGACAC	0.448																																						uc003lwk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(34-36)CTG>CTT		T cell immunoglobulin mucin 3 precursor							134.0	120.0	125.0					5																	156535959		2203	4300	6503	SO:0001819	synonymous_variant	84868					integral to membrane		g.chr5:156535959C>A	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.36G>T	5.37:g.156535959C>A						HAVCR2_uc003lwl.2_Silent_p.L12L	p.L12L	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	180	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	12					B2RAY2|Q8WW60|Q96K94	Silent	SNP	ENST00000307851.4	37	c.36G>T	CCDS4333.1																																																																																				PASS	0.448	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			32	33	32	33	---	---	---	---
HK3	3101	broad.mit.edu	37	5	176310852	176310852	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr5:176310852C>T	ENST00000292432.5	-	15	2063	c.1972G>A	c.(1972-1974)Gtt>Att	p.V658I		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	658	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)	p.V658I(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAATGGCAACCACATTCAGC	0.587																																						uc003mfa.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7						c.(1972-1974)GTT>ATT		hexokinase 3							205.0	158.0	174.0					5																	176310852		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176310852C>T		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1972G>A	5.37:g.176310852C>T	ENSP00000292432:p.Val658Ile					HK3_uc003mez.2_Missense_Mutation_p.V214I	p.V658I	NM_002115	NP_002106	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		15	2064	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	658			Catalytic.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.1972G>A	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	32	5.151026	0.94645	.	.	ENSG00000160883	ENST00000292432;ENST00000514058	D;D	0.98617	-5.03;-5.03	5.28	5.28	0.74379	Hexokinase, N-terminal (1);	0.000000	0.47852	D	0.000220	D	0.98940	0.9640	M	0.79011	2.435	0.58432	D	0.999999	D	0.53462	0.96	P	0.60473	0.875	D	0.99525	1.0959	10	0.56958	D	0.05	-15.3665	18.7018	0.91623	0.0:1.0:0.0:0.0	.	658	P52790	HXK3_HUMAN	I	658;39	ENSP00000292432:V658I;ENSP00000424632:V39I	ENSP00000292432:V658I	V	-	1	0	HK3	176243458	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.617000	0.83032	2.747000	0.94245	0.462000	0.41574	GTT		PASS	0.587	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			63	119	63	119	---	---	---	---
TMEM170B	100113407	broad.mit.edu	37	6	11565950	11565950	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr6:11565950A>G	ENST00000379426.1	+	2	149	c.149A>G	c.(148-150)cAt>cGt	p.H50R	TMEM170B_ENST00000543875.1_Missense_Mutation_p.H50R	NM_001100829.1	NP_001094299.1	Q5T4T1	T170B_HUMAN	transmembrane protein 170B	50						integral component of membrane (GO:0016021)		p.H50R(1)		large_intestine(3)|lung(5)	8						CTGTTTGTCCATGGTGCTGCA	0.443																																						uc010jpa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(148-150)CAT>CGT		transmembrane protein 170B							299.0	287.0	291.0					6																	11565950		2015	4186	6201	SO:0001583	missense	100113407					integral to membrane		g.chr6:11565950A>G		CCDS43425.1	6p24.1	2008-08-08			ENSG00000205269	ENSG00000205269			34244	protein-coding gene	gene with protein product							Standard	NM_001100829		Approved		uc010jpa.4	Q5T4T1	OTTHUMG00000014259	ENST00000379426.1:c.149A>G	6.37:g.11565950A>G	ENSP00000368737:p.His50Arg						p.H50R	NM_001100829	NP_001094299	Q5T4T1	T170B_HUMAN			2	149	+			50			Helical; (Potential).			Missense_Mutation	SNP	ENST00000379426.1	37	c.149A>G	CCDS43425.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.815390	0.90790	.	.	ENSG00000205269	ENST00000543875;ENST00000379426	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.71542	0.3352	M	0.64170	1.965	0.80722	D	1	D	0.62365	0.991	D	0.78314	0.991	T	0.76116	-0.3077	9	0.87932	D	0	0.9308	15.496	0.75648	1.0:0.0:0.0:0.0	.	50	Q5T4T1	T170B_HUMAN	R	50	.	ENSP00000368737:H50R	H	+	2	0	TMEM170B	11673936	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.332000	0.96446	2.059000	0.61396	0.456000	0.33151	CAT		PASS	0.443	TMEM170B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000039862.1	NM_001100829		204	281	204	281	---	---	---	---
JARID2	3720	broad.mit.edu	37	6	15511634	15511634	+	Splice_Site	SNP	T	T	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr6:15511634T>A	ENST00000341776.2	+	13	3196		c.e13+2		JARID2_ENST00000397311.3_Splice_Site	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2						central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AACGTCATGGTGCGTCCACTC	0.567																																						uc003nbj.2																			1	Unknown(1)		lung(1)	ovary(2)|lung(1)|pancreas(1)	4						c.e13+2		jumonji, AT rich interactive domain 2 protein							83.0	68.0	73.0					6																	15511634		2203	4300	6503	SO:0001630	splice_region_variant	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15511634T>A	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2952+2T>A	6.37:g.15511634T>A						JARID2_uc011div.1_Splice_Site_p.M812_splice	p.M984_splice	NM_004973	NP_004964	Q92833	JARD2_HUMAN			13	3196	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)						A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Splice_Site	SNP	ENST00000341776.2	37	c.2952_splice	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.326577	0.60743	.	.	ENSG00000008083	ENST00000341776;ENST00000397311	.	.	.	3.78	3.78	0.43462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7901	0.57528	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	JARID2	15619613	1.000000	0.71417	0.869000	0.34112	0.593000	0.36681	7.919000	0.87513	1.457000	0.47850	0.528000	0.53228	.		PASS	0.567	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973	Intron	29	33	29	33	---	---	---	---
SLC17A3	10786	broad.mit.edu	37	6	25850844	25850844	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr6:25850844C>A	ENST00000360657.3	-	7	887	c.602G>T	c.(601-603)gGg>gTg	p.G201V	SLC17A3_ENST00000361703.6_Missense_Mutation_p.G201V|SLC17A3_ENST00000397060.4_Missense_Mutation_p.G279V			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	201			G -> R (in dbSNP:rs56027330). {ECO:0000269|PubMed:15505377}.		drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)	p.G279V(1)|p.G201V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CTTAGAAGACCCGACCTGAAA	0.423																																						uc003nfi.3																			2	Substitution - Missense(2)		lung(2)		0						c.(601-603)GGG>GTG		solute carrier family 17 (sodium phosphate),							108.0	105.0	106.0					6																	25850844		2203	4300	6503	SO:0001583	missense	10786				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	g.chr6:25850844C>A	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.602G>T	6.37:g.25850844C>A	ENSP00000353873:p.Gly201Val					SLC17A3_uc003nfk.3_Missense_Mutation_p.G279V|SLC17A3_uc011djz.1_3'UTR|SLC17A3_uc011dka.1_Missense_Mutation_p.G201V	p.G201V	NM_006632	NP_006623	O00476	NPT4_HUMAN			7	712	-			201					B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	37	c.602G>T	CCDS4566.2	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854162	0.32791	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.58506	0.33;0.33;0.33	3.53	-2.54	0.06307	Major facilitator superfamily domain, general substrate transporter (1);	4.308840	0.00481	N	0.000127	T	0.16085	0.0387	N	0.17379	0.485	0.09310	N	1	B;B;B	0.11235	0.004;0.0;0.002	B;B;B	0.19946	0.027;0.007;0.003	T	0.07046	-1.0793	10	0.36615	T	0.2	.	2.0104	0.03486	0.3119:0.2774:0.3072:0.1034	.	201;279;201	B7Z531;B7Z511;O00476	.;.;NPT4_HUMAN	V	279;201;201	ENSP00000380250:G279V;ENSP00000353873:G201V;ENSP00000355307:G201V	ENSP00000353873:G201V	G	-	2	0	SLC17A3	25958823	0.000000	0.05858	0.000000	0.03702	0.659000	0.38960	-0.710000	0.05024	-0.572000	0.06006	0.585000	0.79938	GGG		PASS	0.423	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2			35	54	35	54	---	---	---	---
BTN2A2	10385	broad.mit.edu	37	6	26391044	26391044	+	Silent	SNP	A	A	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr6:26391044A>T	ENST00000356709.4	+	7	1077	c.966A>T	c.(964-966)acA>acT	p.T322T	BTN2A2_ENST00000432533.2_Silent_p.T228T|BTN2A2_ENST00000352867.2_Silent_p.T206T|BTN2A2_ENST00000482536.1_Silent_p.T112T|BTN2A2_ENST00000469230.1_Silent_p.T322T|BTN2A2_ENST00000416795.2_Silent_p.T322T	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	322	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T322T(1)|p.T228T(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GGAGAAGAACATTCTTACATG	0.493																																						uc003nhq.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(964-966)ACA>ACT		butyrophilin, subfamily 2, member A2 isoform a							308.0	265.0	280.0					6																	26391044		2203	4300	6503	SO:0001819	synonymous_variant	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26391044A>T	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.966A>T	6.37:g.26391044A>T						BTN2A2_uc011dkf.1_3'UTR|BTN2A2_uc011dkg.1_Silent_p.T228T|BTN2A2_uc003nhr.2_Silent_p.T206T|BTN2A2_uc011dkh.1_Silent_p.T112T|BTN2A2_uc003nhs.2_Silent_p.T322T|BTN2A2_uc003nht.2_Silent_p.T322T|BTN2A2_uc011dki.1_Silent_p.T71T	p.T322T	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN			7	1052	+			322			B30.2/SPRY.|Cytoplasmic (Potential).		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Silent	SNP	ENST00000356709.4	37	c.966A>T	CCDS4606.1																																																																																				PASS	0.493	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			120	207	120	207	---	---	---	---
ZBED9	114821	broad.mit.edu	37	6	28540574	28540574	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr6:28540574G>C	ENST00000452236.2	-	4	3709	c.3092C>G	c.(3091-3093)tCt>tGt	p.S1031C		NM_052923.1	NP_443155.1												p.S1031C(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						caatgaattagattttatata	0.303																																						uc003nlo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3091-3093)TCT>TGT		SCAN domain containing 3							33.0	36.0	35.0					6																	28540574		2191	4290	6481	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28540574G>C																												ENST00000452236.2:c.3092C>G	6.37:g.28540574G>C	ENSP00000395259:p.Ser1031Cys						p.S1031C	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			4	3710	-			1031						Missense_Mutation	SNP	ENST00000452236.2	37	c.3092C>G	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	5.675	0.309112	0.10733	.	.	ENSG00000232040	ENST00000452236	T	0.26957	1.7	2.14	2.14	0.27477	Ribonuclease H-like (1);	1.491410	0.04967	N	0.463047	T	0.24044	0.0582	M	0.75085	2.285	0.25506	N	0.987508	B	0.31910	0.346	B	0.43536	0.423	T	0.47484	-0.9114	10	0.87932	D	0	.	7.8439	0.29414	0.0:0.0:1.0:0.0	.	1031	Q6R2W3	SCND3_HUMAN	C	1031	ENSP00000395259:S1031C	ENSP00000395259:S1031C	S	-	2	0	SCAND3	28648553	0.997000	0.39634	0.985000	0.45067	0.507000	0.33981	1.080000	0.30779	1.507000	0.48752	0.561000	0.74099	TCT		PASS	0.303	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			39	37	39	37	---	---	---	---
TRIM10	10107	broad.mit.edu	37	6	30122115	30122115	+	Silent	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr6:30122115G>A	ENST00000449742.2	-	7	1152	c.1077C>T	c.(1075-1077)ggC>ggT	p.G359G	TRIM10_ENST00000376704.3_Silent_p.G359G	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	359	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.G359G(1)		ovary(1)	1						CCCCTGTGATGCCAGTGTGGG	0.627																																						uc003npo.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1075-1077)GGC>GGT		tripartite motif-containing 10 isoform 1							47.0	46.0	47.0					6																	30122115		1511	2708	4219	SO:0001819	synonymous_variant	10107					cytoplasm	zinc ion binding	g.chr6:30122115G>A	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.1077C>T	6.37:g.30122115G>A						TRIM10_uc003npn.2_Silent_p.G359G	p.G359G	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN			7	1153	-			359			B30.2/SPRY.		A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Silent	SNP	ENST00000449742.2	37	c.1077C>T	CCDS34375.1																																																																																				PASS	0.627	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			30	47	30	47	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69666042	69666042	+	Nonsense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr6:69666042G>A	ENST00000370598.1	+	7	2143	c.1322G>A	c.(1321-1323)tGg>tAg	p.W441*		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	441	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W441*(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGAGGGCCATGGGCAGAAAGC	0.532																																						uc003pev.3																			1	Substitution - Nonsense(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(1321-1323)TGG>TAG		brain-specific angiogenesis inhibitor 3							68.0	61.0	63.0					6																	69666042		2203	4300	6503	SO:0001587	stop_gained	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69666042G>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1322G>A	6.37:g.69666042G>A	ENSP00000359630:p.Trp441*					BAI3_uc010kak.2_Nonsense_Mutation_p.W441*	p.W441*	NM_001704	NP_001695	O60242	BAI3_HUMAN			7	1770	+		all_lung(197;0.212)	441			TSP type-1 3.|Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Nonsense_Mutation	SNP	ENST00000370598.1	37	c.1322G>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	46	12.734039	0.99692	.	.	ENSG00000135298	ENST00000370598	.	.	.	5.71	5.71	0.89125	.	0.129450	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	13.0976	0.59202	0.0732:0.0:0.9268:0.0	.	.	.	.	X	441	.	ENSP00000359630:W441X	W	+	2	0	BAI3	69722763	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	7.825000	0.86693	2.701000	0.92244	0.591000	0.81541	TGG		PASS	0.532	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			32	44	32	44	---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	72892798	72892798	+	Nonsense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr6:72892798G>T	ENST00000521978.1	+	6	1624	c.1624G>T	c.(1624-1626)Gag>Tag	p.E542*	RIMS1_ENST00000517960.1_Nonsense_Mutation_p.E542*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.E542*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.E542*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.E542*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.E542*|RIMS1_ENST00000264839.7_Nonsense_Mutation_p.E542*|RIMS1_ENST00000522291.1_Nonsense_Mutation_p.E542*	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	542					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.E542*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GTCGACGCCCGAGTACACCAG	0.682																																						uc003pga.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)	10						c.(1624-1626)GAG>TAG		regulating synaptic membrane exocytosis 1							8.0	10.0	9.0					6																	72892798		1998	4146	6144	SO:0001587	stop_gained	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72892798G>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.1624G>T	6.37:g.72892798G>T	ENSP00000428417:p.Glu542*					RIMS1_uc011dyb.1_Nonsense_Mutation_p.E168*|RIMS1_uc003pgc.2_Nonsense_Mutation_p.E168*|RIMS1_uc003pgb.3_Nonsense_Mutation_p.E168*	p.E542*	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			6	1701	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	542					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Nonsense_Mutation	SNP	ENST00000521978.1	37	c.1624G>T	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.368575|8.368575	0.98779|0.98779	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978|ENST00000517433	.|.	.|.	.|.	4.05|4.05	4.05|4.05	0.47172|0.47172	.|.	0.091991|.	0.44688|.	D|.	0.000423|.	.|T	.|0.63402	.|0.2508	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64833	.|-0.6314	.|4	0.72032|.	D|.	0.01|.	-5.9965|-5.9965	16.2092|16.2092	0.82147|0.82147	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	542|115	.|.	ENSP00000264839:E542X|.	E|R	+|+	1|2	0|0	RIMS1|RIMS1	72949519|72949519	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.930000|0.930000	0.56654|0.56654	9.414000|9.414000	0.97362|0.97362	1.787000|1.787000	0.52448|0.52448	0.455000|0.455000	0.32223|0.32223	GAG|CGA		PASS	0.682	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			7	4	7	4	---	---	---	---
KCNQ5	56479	broad.mit.edu	37	6	73713722	73713722	+	Splice_Site	SNP	G	G	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr6:73713722G>C	ENST00000370398.1	+	2	598		c.e2+1		KCNQ5_ENST00000355635.3_Splice_Site|KCNQ5_ENST00000370392.1_Splice_Site|KCNQ5_ENST00000402622.2_Splice_Site|KCNQ5_ENST00000355194.4_Splice_Site|KCNQ5_ENST00000414165.2_Splice_Site|KCNQ5_ENST00000342056.2_Splice_Site|KCNQ5_ENST00000403813.2_Splice_Site	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5						protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.?(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CTTGATCCTGGTAAGTGAAAC	0.353																																					GBM(142;1375 1859 14391 23261 44706)	uc003pgk.2																			1	Unknown(1)		lung(1)	ovary(4)|large_intestine(2)|skin(1)	7						c.e2+1		potassium voltage-gated channel, KQT-like							161.0	139.0	146.0					6																	73713722		2203	4300	6503	SO:0001630	splice_region_variant	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73713722G>C	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.489+1G>C	6.37:g.73713722G>C						KCNQ5_uc003pgj.3_Splice_Site_p.L163_splice|KCNQ5_uc011dyh.1_Splice_Site_p.L163_splice|KCNQ5_uc011dyi.1_Splice_Site_p.L163_splice|KCNQ5_uc010kat.2_Splice_Site_p.L163_splice|KCNQ5_uc011dyj.1_Splice_Site_p.L163_splice|KCNQ5_uc011dyk.1_Splice_Site	p.L163_splice	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	2	836	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)						A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Splice_Site	SNP	ENST00000370398.1	37	c.489_splice	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394199	0.62066	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165;ENST00000443915	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7003	0.91618	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCNQ5	73770443	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.779000	0.75057	2.769000	0.95229	0.655000	0.94253	.		PASS	0.353	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842	Intron	67	74	67	74	---	---	---	---
GABRR1	2569	broad.mit.edu	37	6	89909131	89909131	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr6:89909131C>A	ENST00000454853.2	-	4	408	c.298G>T	c.(298-300)Ggt>Tgt	p.G100C	GABRR1_ENST00000369451.3_Missense_Mutation_p.G13C|GABRR1_ENST00000435811.1_Missense_Mutation_p.G83C	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	100					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|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)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.G94C(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	ACATCCACACCAACAGGAATG	0.502																																						uc003pna.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(298-300)GGT>TGT		gamma-aminobutyric acid (GABA) receptor, rho 1	Picrotoxin(DB00466)						100.0	84.0	89.0					6																	89909131		2203	4300	6503	SO:0001583	missense	2569				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89909131C>A		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.298G>T	6.37:g.89909131C>A	ENSP00000412673:p.Gly100Cys					GABRR1_uc011dzv.1_Missense_Mutation_p.G77C	p.G100C	NM_002042	NP_002033	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	4	753	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	100			Extracellular (Probable).		A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	c.298G>T	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782743	0.90282	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	T;T;T	0.79845	-1.31;-1.31;-1.31	5.91	5.91	0.95273	Neurotransmitter-gated ion-channel ligand-binding (3);	0.046771	0.85682	D	0.000000	D	0.91389	0.7283	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91455	0.5184	9	.	.	.	-15.8297	20.2985	0.98592	0.0:1.0:0.0:0.0	.	83;100	P24046-2;P24046	.;GBRR1_HUMAN	C	100;83;13;13	ENSP00000412673:G100C;ENSP00000394687:G83C;ENSP00000358463:G13C	.	G	-	1	0	GABRR1	89965850	1.000000	0.71417	0.128000	0.21923	0.948000	0.59901	7.717000	0.84732	2.793000	0.96121	0.655000	0.94253	GGT		PASS	0.502	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			34	56	34	56	---	---	---	---
UBE2J1	51465	broad.mit.edu	37	6	90053462	90053462	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr6:90053462T>A	ENST00000435041.2	-	2	323	c.45A>T	c.(43-45)ttA>ttT	p.L15F		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	15					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.L15F(1)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		CTTCTTTCATTAAACGTTTAA	0.308																																						uc010kcb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(43-45)TTA>TTT		ubiquitin-conjugating enzyme E2, J1							48.0	47.0	48.0					6																	90053462		2203	4299	6502	SO:0001583	missense	51465					endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	g.chr6:90053462T>A	AJ245898	CCDS5021.1	6q15	2014-01-28	2012-06-08		ENSG00000198833	ENSG00000198833		"""Ubiquitin-conjugating enzymes E2"""	17598	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast)"""			10708578	Standard	NM_016021		Approved	HSPC153, CGI-76, NCUBE1, UBC6	uc003pnc.3	Q9Y385	OTTHUMG00000016337	ENST00000435041.2:c.45A>T	6.37:g.90053462T>A	ENSP00000451261:p.Leu15Phe					UBE2J1_uc003pnc.2_Missense_Mutation_p.L15F	p.L15F	NM_016021	NP_057105	Q9Y385	UB2J1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0139)	3	218	-		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)	15			Cytoplasmic (Potential).		A8K3F9|Q53F25|Q5W0N4|Q9BZ32|Q9NQL3|Q9NY66|Q9P011|Q9P0S0|Q9UF10	Missense_Mutation	SNP	ENST00000435041.2	37	c.45A>T	CCDS5021.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.983231	0.74474	.	.	ENSG00000198833	ENST00000435041	T	0.63255	-0.03	5.4	-4.23	0.03789	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.64402	D	0.000001	T	0.74733	0.3755	H	0.94503	3.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.79969	-0.1579	10	0.87932	D	0	.	10.723	0.46050	0.0:0.5697:0.1188:0.3115	.	15	Q9Y385	UB2J1_HUMAN	F	15	ENSP00000451261:L15F	ENSP00000354684:L15F	L	-	3	2	UBE2J1	90110181	1.000000	0.71417	0.971000	0.41717	0.989000	0.77384	0.561000	0.23515	-0.681000	0.05204	-0.256000	0.11100	TTA		PASS	0.308	UBE2J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043742.2	NM_016021		27	45	27	45	---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101076979	101076979	+	Silent	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr6:101076979C>T	ENST00000369162.2	-	27	4631	c.4287G>A	c.(4285-4287)gaG>gaA	p.E1429E		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1429	Helicase ATP-binding 2. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.E1429E(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CATCCCACTTCTCTGGCGTAG	0.438																																						uc003pqk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(1)	6						c.(4285-4287)GAG>GAA		activating signal cointegrator 1 complex subunit							113.0	91.0	98.0					6																	101076979		2203	4300	6503	SO:0001819	synonymous_variant	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101076979C>T	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.4287G>A	6.37:g.101076979C>T							p.E1429E	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	27	4616	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1429			Helicase ATP-binding 2.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Silent	SNP	ENST00000369162.2	37	c.4287G>A	CCDS5046.1																																																																																				PASS	0.438	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		54	67	54	67	---	---	---	---
CDC40	51362	broad.mit.edu	37	6	110540978	110540978	+	Silent	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr6:110540978C>A	ENST00000368932.1	+	13	1347	c.1246C>A	c.(1246-1248)Cgg>Agg	p.R416R	CDC40_ENST00000368930.1_Silent_p.R416R|CDC40_ENST00000307731.1_Silent_p.R416R			O60508	PRP17_HUMAN	cell division cycle 40	416					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.R416R(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		GGAATATGATCGGCATTTGGG	0.403																																						uc003pua.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1246-1248)CGG>AGG		cell division cycle 40 homolog							210.0	189.0	196.0					6																	110540978		2203	4300	6503	SO:0001819	synonymous_variant	51362				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm		g.chr6:110540978C>A	AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"""WD repeat domain containing"""	17350	protein-coding gene	gene with protein product		605585	"""cell division cycle 40 homolog (yeast)"", ""cell division cycle 40 homolog (S. cerevisiae)"""			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.1246C>A	6.37:g.110540978C>A							p.R416R	NM_015891	NP_056975	O60508	PRP17_HUMAN		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)	12	1270	+		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	416			WD 4.		B2RBC5|O75471|Q5SRN0|Q9UPG1	Silent	SNP	ENST00000368932.1	37	c.1246C>A	CCDS5081.1																																																																																				PASS	0.403	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1	NM_015891		4	172	4	172	---	---	---	---
HSF2	3298	broad.mit.edu	37	6	122752641	122752641	+	Missense_Mutation	SNP	A	A	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr6:122752641A>C	ENST00000368455.4	+	12	1489	c.1297A>C	c.(1297-1299)Aaa>Caa	p.K433Q	HSF2_ENST00000452194.1_Missense_Mutation_p.K415Q	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	433					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stress (GO:0006950)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.K433Q(1)		large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		AGAGGGAAGAAAATCTAAATC	0.328																																						uc003pyu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1297-1299)AAA>CAA		heat shock transcription factor 2 isoform a							39.0	40.0	39.0					6																	122752641		2202	4297	6499	SO:0001583	missense	3298				response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:122752641A>C	M65217	CCDS5124.1, CCDS47470.1	6q22	2008-08-29			ENSG00000025156	ENSG00000025156			5225	protein-coding gene	gene with protein product		140581				1871106	Standard	NM_004506		Approved		uc003pyu.2	Q03933	OTTHUMG00000016216	ENST00000368455.4:c.1297A>C	6.37:g.122752641A>C	ENSP00000357440:p.Lys433Gln					HSF2_uc003pyv.2_Missense_Mutation_p.K415Q	p.K433Q	NM_004506	NP_004497	Q03933	HSF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)	12	1484	+			433					B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Missense_Mutation	SNP	ENST00000368455.4	37	c.1297A>C	CCDS5124.1	.	.	.	.	.	.	.	.	.	.	A	8.350	0.830706	0.16820	.	.	ENSG00000025156	ENST00000368455;ENST00000452194	.	.	.	5.45	5.45	0.79879	Vertebrate heat shock transcription factor (1);	0.567978	0.18772	N	0.131591	T	0.08980	0.0222	N	0.17082	0.46	0.26758	N	0.970065	B;B	0.33318	0.302;0.408	B;B	0.35413	0.202;0.141	T	0.12578	-1.0542	9	0.16896	T	0.51	-12.9286	8.0053	0.30321	0.9116:0.0:0.0884:0.0	.	415;433	Q03933-2;Q03933	.;HSF2_HUMAN	Q	433;415	.	ENSP00000357440:K433Q	K	+	1	0	HSF2	122794340	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.780000	0.55386	2.289000	0.77006	0.533000	0.62120	AAA		PASS	0.328	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043520.1	NM_004506		25	31	25	31	---	---	---	---
RNF217-AS1	7955	broad.mit.edu	37	6	125233205	125233205	+	RNA	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr6:125233205C>A	ENST00000439075.1	-	0	1540					NR_026876.1																						TTCTTCAAGACTGTATTTCCA	0.358																																						uc003pzq.2										T					ETV6		B-ALL		0					0								Homo sapiens mRNA; cDNA DKFZp451I132 (from clone DKFZp451I132).							5.0	5.0	5.0					6																	125233205		832	1919	2751			7955							g.chr6:125233205C>A																													6.37:g.125233205C>A								NR_026876						7		-									RNA	SNP	ENST00000439075.1	37	c.1529G>T																																																																																					PASS	0.358	RP11-510H23.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000042059.1			6	3	6	3	---	---	---	---
VNN1	8876	broad.mit.edu	37	6	133013653	133013653	+	Silent	SNP	G	G	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr6:133013653G>C	ENST00000367928.4	-	5	910	c.897C>G	c.(895-897)ctC>ctG	p.L299L		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	299	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)	p.L299L(1)		NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		GCGAGAGGAGGAGTTTTCCCT	0.438																																						uc003qdo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(895-897)CTC>CTG		vanin 1 precursor							61.0	60.0	60.0					6																	133013653		2203	4300	6503	SO:0001819	synonymous_variant	8876				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	g.chr6:133013653G>C	AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"""Vanins"""	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.897C>G	6.37:g.133013653G>C							p.L299L	NM_004666	NP_004657	O95497	VNN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)	5	917	-	Breast(56;0.135)		299			CN hydrolase.		A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Silent	SNP	ENST00000367928.4	37	c.897C>G	CCDS5159.1																																																																																				PASS	0.438	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1			36	55	36	55	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157527307	157527307	+	Nonsense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr6:157527307G>T	ENST00000350026.5	+	19	4994	c.4993G>T	c.(4993-4995)Gga>Tga	p.G1665*	ARID1B_ENST00000367148.1_Nonsense_Mutation_p.G1718*|ARID1B_ENST00000346085.5_Nonsense_Mutation_p.G1678*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.G1660*	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1665					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.G1660*(1)|p.G1678*(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCAGTTGTCTGGATTTCTCGA	0.428																																						uc003qqn.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|breast(1)	2						c.(4978-4980)GGA>TGA		AT rich interactive domain 1B (SWI1-like)							190.0	223.0	212.0					6																	157527307		2203	4296	6499	SO:0001587	stop_gained	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157527307G>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4993G>T	6.37:g.157527307G>T	ENSP00000055163:p.Gly1665*					ARID1B_uc003qqo.2_Nonsense_Mutation_p.G1620*|ARID1B_uc003qqp.2_Nonsense_Mutation_p.G1607*	p.G1660*	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	5130	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1665					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Nonsense_Mutation	SNP	ENST00000350026.5	37	c.4978G>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	44	10.617863	0.99438	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	.	.	.	5.39	5.39	0.77823	.	0.103452	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1716	0.93580	0.0:0.0:1.0:0.0	.	.	.	.	X	1678;1665;1718;1660;1187	.	ENSP00000275248:G1660X	G	+	1	0	ARID1B	157568999	1.000000	0.71417	0.998000	0.56505	0.751000	0.42716	9.476000	0.97823	2.516000	0.84829	0.563000	0.77884	GGA		PASS	0.428	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		291	438	291	438	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157527593	157527593	+	Missense_Mutation	SNP	A	A	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr6:157527593A>C	ENST00000350026.5	+	19	5280	c.5279A>C	c.(5278-5280)gAc>gCc	p.D1760A	ARID1B_ENST00000367148.1_Missense_Mutation_p.D1813A|ARID1B_ENST00000346085.5_Missense_Mutation_p.D1773A|ARID1B_ENST00000275248.4_Missense_Mutation_p.D1755A	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1760					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.D1755A(1)|p.D1773A(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCCGCTGCAGACCCAAAGGAG	0.512																																						uc003qqn.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(5263-5265)GAC>GCC		AT rich interactive domain 1B (SWI1-like)							59.0	60.0	60.0					6																	157527593		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157527593A>C	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5279A>C	6.37:g.157527593A>C	ENSP00000055163:p.Asp1760Ala					ARID1B_uc003qqo.2_Missense_Mutation_p.D1715A|ARID1B_uc003qqp.2_Missense_Mutation_p.D1702A	p.D1755A	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	5416	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1760					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.5264A>C	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	A	5.869	0.344559	0.11126	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02085	4.77;4.77;4.78;4.78;4.46	5.16	-0.521	0.11931	.	0.990774	0.08221	N	0.979094	T	0.00875	0.0029	L	0.42245	1.32	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.003	T	0.44065	-0.9352	10	0.19590	T	0.45	.	13.8736	0.63638	0.5386:0.4614:0.0:0.0	.	1760;1773;1755	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	A	1773;1760;1813;1755;1282	ENSP00000344546:D1773A;ENSP00000055163:D1760A;ENSP00000356116:D1813A;ENSP00000275248:D1755A;ENSP00000412835:D1282A	ENSP00000275248:D1755A	D	+	2	0	ARID1B	157569285	0.174000	0.23070	0.000000	0.03702	0.921000	0.55340	1.937000	0.40193	-0.324000	0.08589	0.383000	0.25322	GAC		PASS	0.512	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		70	82	70	82	---	---	---	---
T	6862	broad.mit.edu	37	6	166571969	166571969	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr6:166571969G>T	ENST00000296946.2	-	9	1610	c.1142C>A	c.(1141-1143)gCg>gAg	p.A381E	T_ENST00000366871.3_Missense_Mutation_p.A323E	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	381					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A381E(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TGTGTAGTGCGCGGGGGAGCC	0.711									Chordoma, Familial Clustering of																													uc003quu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1141-1143)GCG>GAG		transcription factor T							30.0	38.0	35.0					6																	166571969		2202	4298	6500	SO:0001583	missense	6862	Chordoma_Familial_Clustering_of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166571969G>T	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.1142C>A	6.37:g.166571969G>T	ENSP00000296946:p.Ala381Glu					T_uc003qut.1_Missense_Mutation_p.A382E|T_uc003quv.1_Missense_Mutation_p.A323E	p.A381E	NM_003181	NP_003172	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	9	1635	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	381					E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	c.1142C>A	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	G	9.132	1.011549	0.19277	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D	0.83591	-1.68;-1.74	4.79	3.91	0.45181	.	0.838244	0.10388	N	0.680694	T	0.67859	0.2938	M	0.75264	2.295	0.09310	N	1	B;B;P	0.34780	0.282;0.286;0.468	B;B;B	0.33568	0.038;0.166;0.082	T	0.59069	-0.7523	10	0.29301	T	0.29	.	6.8851	0.24195	0.1656:0.1462:0.6881:0.0	.	323;381;323	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	E	381;381;323	ENSP00000296946:A381E;ENSP00000355836:A323E	ENSP00000296946:A381E	A	-	2	0	T	166491959	0.021000	0.18746	0.002000	0.10522	0.124000	0.20399	2.064000	0.41432	1.115000	0.41800	0.561000	0.74099	GCG		PASS	0.711	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		44	39	44	39	---	---	---	---
PDGFA	5154	broad.mit.edu	37	7	550620	550620	+	Silent	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr7:550620G>A	ENST00000354513.5	-	4	671	c.279C>T	c.(277-279)ccC>ccT	p.P93P	PDGFA_ENST00000426681.2_5'Flank|PDGFA_ENST00000402802.3_Silent_p.P93P	NM_002607.5	NP_002598.4	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	93					actin cytoskeleton organization (GO:0030036)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell projection assembly (GO:0030031)|cell-cell signaling (GO:0007267)|embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|negative chemotaxis (GO:0050919)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling (GO:0060683)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of smooth muscle cell migration (GO:0014910)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|microvillus (GO:0005902)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|growth factor activity (GO:0008083)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.P93P(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		TGCAGACAGCGGGGACAGCTT	0.682																																						uc003sir.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(277-279)CCC>CCT		platelet-derived growth factor alpha isoform 1							45.0	38.0	40.0					7																	550620		2203	4298	6501	SO:0001819	synonymous_variant	5154				actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity	g.chr7:550620G>A		CCDS34578.1, CCDS47524.1	7p22	2008-07-18			ENSG00000197461	ENSG00000197461			8799	protein-coding gene	gene with protein product	"""PDGF A-chain"", ""platelet-derived growth factor alpha chain"""	173430				1505216, 2536956	Standard	NM_002607		Approved	PDGF1, PDGF-A	uc003sir.3	P04085	OTTHUMG00000151412	ENST00000354513.5:c.279C>T	7.37:g.550620G>A						PDGFA_uc003sis.2_Silent_p.P93P|PDGFA_uc003sit.1_Silent_p.P107P	p.P93P	NM_002607	NP_002598	P04085	PDGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)	4	1122	-		Ovarian(82;0.0112)	93					B5BU73	Silent	SNP	ENST00000354513.5	37	c.279C>T	CCDS34578.1	.	.	.	.	.	.	.	.	.	.	g	1.129	-0.653076	0.03480	.	.	ENSG00000197461	ENST00000400761	.	.	.	4.69	-5.63	0.02474	.	.	.	.	.	T	0.44705	0.1306	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43442	-0.9391	4	.	.	.	-12.9313	4.7369	0.12993	0.5484:0.101:0.2576:0.093	.	.	.	.	C	100	.	.	R	-	1	0	PDGFA	517146	0.000000	0.05858	0.060000	0.19600	0.039000	0.13416	-2.291000	0.01147	-1.057000	0.03201	0.558000	0.71614	CGC		PASS	0.682	PDGFA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322534.1			13	19	13	19	---	---	---	---
FAM220A	84792	broad.mit.edu	37	7	6370367	6370367	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr7:6370367C>A	ENST00000313324.4	-	2	886	c.419G>T	c.(418-420)gGc>gTc	p.G140V	FAM220A_ENST00000533877.1_5'Flank	NM_001037163.1	NP_001032240.1	Q7Z4H9	F220A_HUMAN	family with sequence similarity 220, member A	140						nucleus (GO:0005634)		p.G140V(1)									TCCTCTGTGGCCGTCAGTGGC	0.602																																						uc003spu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(418-420)GGC>GTC		hypothetical protein LOC84792							36.0	40.0	39.0					7																	6370367		2203	4300	6503	SO:0001583	missense	84792					nucleus		g.chr7:6370367C>A	BC006110	CCDS34599.1	7p22.1	2012-03-19	2012-03-19	2012-03-19	ENSG00000178397	ENSG00000178397			22422	protein-coding gene	gene with protein product	"""STAT3-interacting protein as a repressor"""		"""chromosome 7 open reading frame 70"""	C7orf70			Standard	NM_001037163		Approved	SIPAR, MGC12966	uc003spu.3	Q7Z4H9	OTTHUMG00000122091	ENST00000313324.4:c.419G>T	7.37:g.6370367C>A	ENSP00000317289:p.Gly140Val						p.G140V	NM_001037163	NP_001032240	Q7Z4H9	SIPAR_HUMAN			2	887	-			140					Q75ML2|Q8NA52|Q9BRR7	Missense_Mutation	SNP	ENST00000313324.4	37	c.419G>T	CCDS34599.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305551	0.40795	.	.	ENSG00000178397	ENST00000313324	T	0.08102	3.13	5.26	-0.479	0.12089	.	1.516800	0.04365	U	0.358074	T	0.07999	0.0200	L	0.36672	1.1	0.09310	N	1	P	0.41910	0.764	B	0.37091	0.241	T	0.40553	-0.9557	10	0.56958	D	0.05	-0.2603	7.9378	0.29939	0.0:0.3472:0.0:0.6528	.	140	Q7Z4H9	SIPAR_HUMAN	V	140	ENSP00000317289:G140V	ENSP00000317289:G140V	G	-	2	0	C7orf70	6336892	0.001000	0.12720	0.000000	0.03702	0.172000	0.22775	0.369000	0.20416	-0.005000	0.14395	-0.126000	0.14955	GGC		PASS	0.602	FAM220A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000242853.2	NM_001037163		34	38	34	38	---	---	---	---
NXPH1	30010	broad.mit.edu	37	7	8790773	8790773	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr7:8790773C>A	ENST00000405863.1	+	3	1101	c.190C>A	c.(190-192)Cgt>Agt	p.R64S	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_De_novo_Start_OutOfFrame	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	64	II.					extracellular region (GO:0005576)		p.R64S(1)|p.R64C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		ACAGACTTTTCGTGGCAAAGA	0.463																																						uc003srv.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(190-192)CGT>AGT		neurexophilin 1 precursor							63.0	63.0	63.0					7																	8790773		1953	4148	6101	SO:0001583	missense	30010					extracellular region		g.chr7:8790773C>A	AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.190C>A	7.37:g.8790773C>A	ENSP00000384551:p.Arg64Ser					NXPH1_uc011jxh.1_5'UTR	p.R64S	NM_152745	NP_689958	P58417	NXPH1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	3	1101	+		Ovarian(82;0.0628)	64			II.		Q8NB31	Missense_Mutation	SNP	ENST00000405863.1	37	c.190C>A	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410448	0.25465	.	.	ENSG00000122584	ENST00000405863;ENST00000438764;ENST00000429542	.	.	.	6.07	6.07	0.98685	.	0.147939	0.64402	D	0.000006	T	0.39911	0.1096	N	0.08118	0	0.80722	D	1	B	0.12013	0.005	B	0.10450	0.005	T	0.33317	-0.9873	9	0.10902	T	0.67	-10.6286	20.6593	0.99626	0.0:1.0:0.0:0.0	.	64	P58417	NXPH1_HUMAN	S	64	.	ENSP00000384551:R64S	R	+	1	0	NXPH1	8757298	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.461000	0.80834	2.885000	0.99019	0.655000	0.94253	CGT		PASS	0.463	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745		44	52	44	52	---	---	---	---
GPNMB	10457	broad.mit.edu	37	7	23309656	23309656	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr7:23309656C>T	ENST00000381990.2	+	9	1488	c.1327C>T	c.(1327-1329)Cct>Tct	p.P443S	GPNMB_ENST00000539136.1_Missense_Mutation_p.P332S|GPNMB_ENST00000453162.2_Missense_Mutation_p.P385S|GPNMB_ENST00000258733.4_Missense_Mutation_p.P431S	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	443					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)	p.P443S(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			AGTCTGCAGCCCTGTGGATGT	0.582																																						uc003swc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)	5						c.(1327-1329)CCT>TCT		glycoprotein (transmembrane) nmb isoform a							186.0	149.0	162.0					7																	23309656		2203	4300	6503	SO:0001583	missense	10457				negative regulation of cell proliferation	melanosome		g.chr7:23309656C>T	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1327C>T	7.37:g.23309656C>T	ENSP00000371420:p.Pro443Ser					GPNMB_uc003swb.2_Missense_Mutation_p.P431S|GPNMB_uc011jyy.1_Missense_Mutation_p.P385S|GPNMB_uc011jyz.1_Missense_Mutation_p.P332S	p.P443S	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		9	1488	+			443			Extracellular (Potential).		A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	c.1327C>T	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657776	0.29425	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.14144	2.54;2.53;2.54;2.53	6.03	2.11	0.27256	.	0.530157	0.20149	N	0.098213	T	0.14313	0.0346	M	0.67953	2.075	0.09310	N	1	B;B;B;B	0.23854	0.034;0.092;0.043;0.013	B;B;B;B	0.25614	0.062;0.048;0.015;0.007	T	0.21759	-1.0236	10	0.52906	T	0.07	-4.3499	5.2872	0.15708	0.2436:0.4576:0.2356:0.0632	.	332;385;443;431	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	S	431;478;443;326;332;385	ENSP00000258733:P431S;ENSP00000371420:P443S;ENSP00000445266:P332S;ENSP00000405586:P385S	ENSP00000258733:P431S	P	+	1	0	GPNMB	23276181	0.000000	0.05858	0.006000	0.13384	0.012000	0.07955	0.204000	0.17335	0.109000	0.17891	-0.266000	0.10368	CCT		PASS	0.582	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		100	118	100	118	---	---	---	---
ABCB4	5244	broad.mit.edu	37	7	87035607	87035607	+	Silent	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr7:87035607G>T	ENST00000265723.4	-	26	3615	c.3504C>A	c.(3502-3504)ccC>ccA	p.P1168P	ABCB4_ENST00000359206.3_Silent_p.P1161P|ABCB4_ENST00000358400.3_Silent_p.P1114P|ABCB4_ENST00000453593.1_Silent_p.P1114P|ABCB4_ENST00000545634.1_Silent_p.P1161P	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1168	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.		P -> S (in GBD1). {ECO:0000269|PubMed:11313316, ECO:0000269|PubMed:12891548}.		cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.P1161P(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	AACTTACGTGGGGTAACGTCT	0.398																																						uc003uiv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)|pancreas(1)	6						c.(3502-3504)CCC>CCA		ATP-binding cassette, subfamily B, member 4							130.0	122.0	125.0					7																	87035607		2203	4300	6503	SO:0001819	synonymous_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87035607G>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3504C>A	7.37:g.87035607G>T						ABCB4_uc003uiw.1_Silent_p.P1161P|ABCB4_uc003uix.1_Silent_p.P1114P	p.P1168P	NM_018849	NP_061337	P21439	MDR3_HUMAN			26	3580	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		1168		P -> S (in GBD1).	ABC transporter 2.|Cytoplasmic (By similarity).		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	c.3504C>A	CCDS5606.1																																																																																				PASS	0.398	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		84	132	84	132	---	---	---	---
RUNDC3B	154661	broad.mit.edu	37	7	87370837	87370837	+	Silent	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr7:87370837C>T	ENST00000338056.3	+	7	1033	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L	RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000493037.1_Silent_p.L191L|RUNDC3B_ENST00000394654.3_Silent_p.L191L	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	208								p.L208L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					GGGAGAGGGGCTGGATGGCAG	0.274																																						uc003ujb.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(622-624)CTG>TTG		RUN domain containing 3B isoform a							67.0	66.0	66.0					7																	87370837		2203	4298	6501	SO:0001819	synonymous_variant	154661							g.chr7:87370837C>T		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.622C>T	7.37:g.87370837C>T						RUNDC3B_uc011khd.1_Silent_p.L191L|RUNDC3B_uc011khe.1_Silent_p.L191L|RUNDC3B_uc003ujc.2_Silent_p.L191L|RUNDC3B_uc003ujd.2_Silent_p.L113L	p.L208L	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN			7	1033	+	Esophageal squamous(14;0.00164)		208					B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Silent	SNP	ENST00000338056.3	37	c.622C>T	CCDS5609.1																																																																																				PASS	0.274	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		26	34	26	34	---	---	---	---
SPDYE3	441272	broad.mit.edu	37	7	99917560	99917560	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr7:99917560G>A	ENST00000332397.6	+	10	1781	c.1597G>A	c.(1597-1599)Gct>Act	p.A533T	SPDYE3_ENST00000437326.2_Missense_Mutation_p.A156T	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	533								p.A533T(2)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						CCAGATCCAGGCTTATGACCC	0.617																																						uc003uug.1																			2	Substitution - Missense(2)		lung(2)		0						c.(466-468)GCT>ACT		speedy homolog E3							19.0	27.0	24.0					7																	99917560		1440	2534	3974	SO:0001583	missense	441272							g.chr7:99917560G>A	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1597G>A	7.37:g.99917560G>A	ENSP00000329565:p.Ala533Thr					uc011kjm.1_5'Flank	p.A156T	NM_001004351	NP_001004351	A6NKU9	SPDE3_HUMAN			5	706	+			533					Q495Y9|Q6PHC4	Missense_Mutation	SNP	ENST00000332397.6	37	c.466G>A	CCDS47658.2	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093410	0.56075	.	.	ENSG00000214300	ENST00000332397;ENST00000437326	.	.	.	0.185	0.185	0.15096	.	0.237591	0.28527	N	0.015023	T	0.53318	0.1789	M	0.77820	2.39	0.20926	N	0.999823	.	.	.	.	.	.	T	0.49744	-0.8907	6	0.66056	D	0.02	.	.	.	.	.	.	.	.	T	533;156	.	ENSP00000329565:A533T	A	+	1	0	SPDYE3	99755496	0.999000	0.42202	0.516000	0.27786	0.523000	0.34469	1.061000	0.30542	0.293000	0.22520	0.298000	0.19748	GCT		PASS	0.617	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		76	102	76	102	---	---	---	---
TRIP6	7205	broad.mit.edu	37	7	100466332	100466332	+	Silent	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr7:100466332G>T	ENST00000200457.4	+	4	939	c.579G>T	c.(577-579)ggG>ggT	p.G193G		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	193					focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)	p.G193G(1)		breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGGCCTCTGGGCCCCTCCCGG	0.706																																						uc003uww.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(577-579)GGG>GGT		thyroid receptor-interacting protein 6							6.0	8.0	7.0					7																	100466332		2007	4032	6039	SO:0001819	synonymous_variant	7205				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	g.chr7:100466332G>T	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.579G>T	7.37:g.100466332G>T						TRIP6_uc010lhk.1_RNA	p.G193G	NM_003302	NP_003293	Q15654	TRIP6_HUMAN			4	749	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		193					A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Silent	SNP	ENST00000200457.4	37	c.579G>T	CCDS5708.1																																																																																				PASS	0.706	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302		8	11	8	11	---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	122130267	122130267	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr7:122130267C>A	ENST00000449022.2	-	11	1739	c.1720G>T	c.(1720-1722)Gat>Tat	p.D574Y	CADPS2_ENST00000313070.7_Missense_Mutation_p.D574Y|CADPS2_ENST00000476131.1_5'Flank|CADPS2_ENST00000412584.2_Missense_Mutation_p.D574Y|CADPS2_ENST00000334010.7_Missense_Mutation_p.D574Y	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	574	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.D574Y(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TCCTGTTCATCATCACTGGCA	0.388																																						uc010lkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1720-1722)GAT>TAT		Ca2+-dependent activator protein for secretion 2							157.0	153.0	154.0					7																	122130267		1895	4120	6015	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122130267C>A		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.1720G>T	7.37:g.122130267C>A	ENSP00000398481:p.Asp574Tyr					CADPS2_uc003vkg.3_Missense_Mutation_p.D274Y|CADPS2_uc010lkq.2_Missense_Mutation_p.D574Y	p.D574Y	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			11	1883	-			574			PH.		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.1720G>T	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.9|24.9	4.583475|4.583475	0.86748|0.86748	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000397721	T;T;T;T|.	0.76968|.	-1.06;-1.06;-1.06;-1.06|.	5.25|5.25	5.25|5.25	0.73442|0.73442	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76870|.	0.4048|.	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	D;P;D|.	0.89917|.	1.0;0.951;1.0|.	D;P;D|.	0.91635|.	0.999;0.506;0.998|.	T|.	0.76724|.	-0.2854|.	10|.	0.87932|.	D|.	0|.	-21.0122|-21.0122	18.8508|18.8508	0.92227|0.92227	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	574;574;574|.	Q86UW7-2;Q86UW7;Q86UW7-3|.	.;CAPS2_HUMAN;.|.	Y|L	574;574;574;541;574;574|222	ENSP00000325581:D574Y;ENSP00000333940:D574Y;ENSP00000400401:D574Y;ENSP00000398481:D574Y|.	ENSP00000325581:D574Y|.	D|X	-|-	1|2	0|2	CADPS2|CADPS2	121917503|121917503	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.718000|7.718000	0.84743|0.84743	2.446000|2.446000	0.82766|0.82766	0.491000|0.491000	0.48974|0.48974	GAT|TGA		PASS	0.388	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		13	173	13	173	---	---	---	---
CPA5	93979	broad.mit.edu	37	7	129986318	129986318	+	5'UTR	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr7:129986318G>T	ENST00000485477.1	+	0	1121				CPA5_ENST00000393213.3_5'Flank|CPA5_ENST00000355388.3_5'UTR|CPA5_ENST00000461828.1_5'UTR|snoU13_ENST00000459205.1_RNA|CPA5_ENST00000466363.2_5'UTR|CPA5_ENST00000474905.1_5'UTR|CPA5_ENST00000431780.2_5'UTR			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5							extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CTCACCAGGAGGAAGAAGCAT	0.632																																						uc010lmd.1																			0				ovary(2)	2						c.(-10--6)GAGGA>GATGA		carboxypeptidase A5 isoform 1							53.0	58.0	56.0					7																	129986318		2203	4300	6503	SO:0001623	5_prime_UTR_variant	93979				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129986318G>T	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.-9G>T	7.37:g.129986318G>T						CPA5_uc003vps.2_Translation_Start_Site|CPA5_uc003vpt.2_Translation_Start_Site|CPA5_uc010lme.1_Translation_Start_Site|CPA5_uc003vpu.1_Translation_Start_Site		NM_001127441	NP_001120913	Q8WXQ8	CBPA5_HUMAN			4	612	+	Melanoma(18;0.0435)							G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Translation_Start_Site	SNP	ENST00000485477.1	37	c.-8G>T	CCDS5819.1																																																																																				PASS	0.632	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		63	71	63	71	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131908396	131908396	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr7:131908396G>T	ENST00000359827.3	-	9	2949	c.1987C>A	c.(1987-1989)Ctg>Atg	p.L663M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L663M			Q9HCM2	PLXA4_HUMAN	plexin A4	663	PSI 2.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.L663M(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACGCAGGACAGGCACCTGGGC	0.537																																						uc003vra.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1987-1989)CTG>ATG		plexin A4 isoform 1							29.0	32.0	31.0					7																	131908396		2084	4239	6323	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131908396G>T	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.1987C>A	7.37:g.131908396G>T	ENSP00000352882:p.Leu663Met						p.L663M	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			9	2216	-			663			PSI 2.|Extracellular (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.1987C>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905538	0.72868	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.16897	2.31;2.31	5.8	5.8	0.92144	.	0.226587	0.37857	N	0.001907	T	0.36690	0.0976	L	0.48642	1.525	0.53005	D	0.999969	P	0.44627	0.839	P	0.62560	0.904	T	0.00293	-1.1841	10	0.39692	T	0.17	.	19.6559	0.95842	0.0:0.0:1.0:0.0	.	663	Q9HCM2	PLXA4_HUMAN	M	663	ENSP00000323194:L663M;ENSP00000352882:L663M	ENSP00000323194:L663M	L	-	1	2	PLXNA4	131558936	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.559000	0.60796	2.755000	0.94549	0.655000	0.94253	CTG		PASS	0.537	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		9	13	9	13	---	---	---	---
KLRG2	346689	broad.mit.edu	37	7	139168179	139168179	+	Silent	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr7:139168179C>A	ENST00000340940.4	-	1	279	c.210G>T	c.(208-210)ccG>ccT	p.P70P	KLRG2_ENST00000393039.2_Silent_p.P70P	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	70	Pro-rich.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.P70P(1)		central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					GAGGCGAAGGCGGCTTTTTCT	0.731																																						uc003vvb.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(208-210)CCG>CCT		killer cell lectin-like receptor subfamily G,							6.0	8.0	8.0					7																	139168179		1893	3934	5827	SO:0001819	synonymous_variant	346689					integral to membrane	sugar binding	g.chr7:139168179C>A	AK126174	CCDS5854.1	7q34	2011-08-30			ENSG00000188883	ENSG00000188883		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	24778	protein-coding gene	gene with protein product	"""C-type lectin domain family 15, member B"""						Standard	XM_005250311		Approved	FLJ44186, CLEC15B	uc003vvb.3	A4D1S0	OTTHUMG00000157705	ENST00000340940.4:c.210G>T	7.37:g.139168179C>A						KLRG2_uc010lnc.2_Silent_p.P70P	p.P70P	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN			1	279	-	Melanoma(164;0.233)		70			Pro-rich.		Q2NL79|Q6ZTV6	Silent	SNP	ENST00000340940.4	37	c.210G>T	CCDS5854.1																																																																																				PASS	0.731	KLRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349433.1	NM_198508		16	10	16	10	---	---	---	---
WEE2	494551	broad.mit.edu	37	7	141408806	141408806	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr7:141408806C>A	ENST00000397541.2	+	1	654	c.248C>A	c.(247-249)aCt>aAt	p.T83N	WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000478332.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	83					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.T83N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					ATTTTGAGGACTCCAGTGTCA	0.522																																						uc003vwn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|stomach(1)	2						c.(247-249)ACT>AAT		WEE1 homolog 2							142.0	139.0	140.0					7																	141408806		1958	4158	6116	SO:0001583	missense	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141408806C>A	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.248C>A	7.37:g.141408806C>A	ENSP00000380675:p.Thr83Asn					FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	p.T83N	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN			1	654	+	Melanoma(164;0.0171)		83						Missense_Mutation	SNP	ENST00000397541.2	37	c.248C>A	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830517	0.32329	.	.	ENSG00000214102	ENST00000397541	T	0.22134	1.97	4.55	2.67	0.31697	.	0.947461	0.08658	U	0.912915	T	0.15089	0.0364	M	0.63428	1.95	0.09310	N	1	P	0.40144	0.704	B	0.29663	0.105	T	0.24012	-1.0172	10	0.16896	T	0.51	-8.9069	2.7524	0.05284	0.1708:0.3842:0.3318:0.1132	.	83	P0C1S8	WEE2_HUMAN	N	83	ENSP00000380675:T83N	ENSP00000380675:T83N	T	+	2	0	WEE2	141055275	0.001000	0.12720	0.032000	0.17829	0.311000	0.27955	0.596000	0.24044	0.797000	0.33971	0.655000	0.94253	ACT		PASS	0.522	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		146	177	146	177	---	---	---	---
OR2A2	442361	broad.mit.edu	37	7	143807527	143807527	+	Silent	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr7:143807527G>T	ENST00000408979.2	+	1	921	c.852G>T	c.(850-852)ctG>ctT	p.L284L		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L284L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ATCCAATGCTGAACCCCCTGA	0.517																																						uc011ktz.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(850-852)CTG>CTT		olfactory receptor, family 2, subfamily A,							147.0	140.0	142.0					7																	143807527		1959	4169	6128	SO:0001819	synonymous_variant	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143807527G>T		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.852G>T	7.37:g.143807527G>T							p.L284L	NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN			1	852	+	Melanoma(164;0.0783)		284			Helical; Name=7; (Potential).		B2RN85|Q8NGT6	Silent	SNP	ENST00000408979.2	37	c.852G>T	CCDS43671.1																																																																																				PASS	0.517	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			127	192	127	192	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12957052	12957052	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr8:12957052C>T	ENST00000276297.4	-	9	3203	c.2794G>A	c.(2794-2796)Gat>Aat	p.D932N	DLC1_ENST00000358919.2_Missense_Mutation_p.D495N|DLC1_ENST00000512044.2_Missense_Mutation_p.D529N|DLC1_ENST00000520226.1_Missense_Mutation_p.D421N	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	932					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.D932N(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GAGTCCGAATCTCCCTCATCA	0.567																																						uc003wwm.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(2794-2796)GAT>AAT		deleted in liver cancer 1 isoform 1							105.0	96.0	99.0					8																	12957052		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957052C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2794G>A	8.37:g.12957052C>T	ENSP00000276297:p.Asp932Asn					DLC1_uc003wwk.1_Missense_Mutation_p.D495N|DLC1_uc003wwl.1_Missense_Mutation_p.D529N|DLC1_uc011kxx.1_Missense_Mutation_p.D421N	p.D932N	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			9	3238	-			932					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2794G>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226847	0.79576	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.06687	3.52;3.28;3.28;3.27	5.43	5.43	0.79202	.	0.095533	0.64402	D	0.000001	T	0.30230	0.0758	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	0.964;0.972;1.0	P;P;D	0.87578	0.827;0.621;0.998	T	0.00593	-1.1654	10	0.72032	D	0.01	.	19.6216	0.95658	0.0:1.0:0.0:0.0	.	932;529;495	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	N	932;495;529;421	ENSP00000276297:D932N;ENSP00000351797:D495N;ENSP00000422595:D529N;ENSP00000428028:D421N	ENSP00000276297:D932N	D	-	1	0	DLC1	13001423	1.000000	0.71417	0.960000	0.40013	0.888000	0.51559	7.815000	0.86186	2.717000	0.92951	0.655000	0.94253	GAT		PASS	0.567	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		67	21	67	21	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55537815	55537815	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr8:55537815G>C	ENST00000220676.1	+	4	1521	c.1373G>C	c.(1372-1374)aGa>aCa	p.R458T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	458					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)	p.R458T(1)		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)			AGAAGAGTGAGACAAAAGAAA	0.418																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(1372-1374)AGA>ACA		retinitis pigmentosa RP1 protein							72.0	73.0	72.0					8																	55537815		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.chr8:55537815G>C	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.1373G>C	8.37:g.55537815G>C	ENSP00000220676:p.Arg458Thr					RP1_uc011ldy.1_Intron	p.R458T	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1521	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	458						Missense_Mutation	SNP	ENST00000220676.1	37	c.1373G>C	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242499	0.58995	.	.	ENSG00000104237	ENST00000220676	T	0.33216	1.42	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000008	T	0.42988	0.1227	L	0.34521	1.04	0.33796	D	0.626103	D	0.57257	0.979	P	0.58520	0.84	T	0.54556	-0.8276	10	0.66056	D	0.02	.	18.964	0.92687	0.0:0.0:1.0:0.0	.	458	P56715	RP1_HUMAN	T	458	ENSP00000220676:R458T	ENSP00000220676:R458T	R	+	2	0	RP1	55700368	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	2.974000	0.49272	2.480000	0.83734	0.655000	0.94253	AGA		PASS	0.418	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		55	76	55	76	---	---	---	---
IMPAD1	54928	broad.mit.edu	37	8	57905986	57905986	+	Silent	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr8:57905986C>A	ENST00000262644.4	-	1	417	c.159G>T	c.(157-159)gcG>gcT	p.A53A		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	53	Poly-Ala.				chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)	p.A53A(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				cggccgcggccgcgggccccg	0.756																																						uc003xte.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(157-159)GCG>GCT		inositol monophosphatase domain containing 1							4.0	5.0	4.0					8																	57905986		1967	3865	5832	SO:0001819	synonymous_variant	54928					Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding	g.chr8:57905986C>A		CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.159G>T	8.37:g.57905986C>A							p.A53A	NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN			1	442	-		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)	53			Poly-Ala.		Q6NVY7	Silent	SNP	ENST00000262644.4	37	c.159G>T	CCDS6169.1																																																																																				PASS	0.756	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378665.1	NM_017813		3	0	3	0	---	---	---	---
CLVS1	157807	broad.mit.edu	37	8	62371029	62371029	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr8:62371029C>A	ENST00000519846.1	+	6	1377	c.905C>A	c.(904-906)tCc>tAc	p.S302Y	CLVS1_ENST00000518592.1_Missense_Mutation_p.S23Y|CLVS1_ENST00000325897.4_Missense_Mutation_p.S302Y			Q8IUQ0	CLVS1_HUMAN	clavesin 1	302					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.S302Y(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ACTCACACATCCTATAATGCA	0.498																																						uc003xuh.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)	5						c.(904-906)TCC>TAC		retinaldehyde binding protein 1-like 1							90.0	77.0	81.0					8																	62371029		2203	4300	6503	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62371029C>A	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.905C>A	8.37:g.62371029C>A	ENSP00000428402:p.Ser302Tyr					CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Intron	p.S302Y	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN			5	1229	+			302					B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.905C>A	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895756	0.52121	.	.	ENSG00000177182	ENST00000519846;ENST00000518592;ENST00000325897;ENST00000520712	T;T	0.80909	-1.43;-1.43	5.43	5.43	0.79202	.	0.278702	0.38897	N	0.001529	T	0.73040	0.3536	N	0.24115	0.695	0.47009	D	0.999285	B	0.02656	0.0	B	0.04013	0.001	T	0.68300	-0.5445	10	0.87932	D	0	-16.5219	19.4372	0.94801	0.0:1.0:0.0:0.0	.	302	Q8IUQ0	CLVS1_HUMAN	Y	302;23;302;23	ENSP00000428402:S302Y;ENSP00000325506:S302Y	ENSP00000325506:S302Y	S	+	2	0	CLVS1	62533583	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.187000	0.58344	2.827000	0.97445	0.650000	0.86243	TCC		PASS	0.498	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		41	54	41	54	---	---	---	---
XKR9	389668	broad.mit.edu	37	8	71646376	71646376	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr8:71646376G>T	ENST00000408926.3	+	5	1373	c.839G>T	c.(838-840)gGa>gTa	p.G280V	XKR9_ENST00000520030.1_Missense_Mutation_p.G280V|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	280						integral component of membrane (GO:0016021)		p.G280V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AATATTAAGGGACAGAATACC	0.328																																						uc003xyq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(838-840)GGA>GTA		XK, Kell blood group complex subunit-related							83.0	81.0	81.0					8																	71646376		2203	4299	6502	SO:0001583	missense	389668					integral to membrane		g.chr8:71646376G>T	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.839G>T	8.37:g.71646376G>T	ENSP00000386141:p.Gly280Val					XKR9_uc010lze.2_Missense_Mutation_p.G280V|XKR9_uc010lzd.2_Missense_Mutation_p.G148V	p.G280V	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		5	1373	+	Breast(64;0.0716)		280					B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.839G>T	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065739	0.76187	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.64085	-0.08;-0.08	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.79857	0.4518	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79514	-0.1772	10	0.41790	T	0.15	-6.5187	18.4744	0.90786	0.0:0.0:1.0:0.0	.	280	Q5GH70	XKR9_HUMAN	V	280	ENSP00000386141:G280V;ENSP00000431088:G280V	ENSP00000386141:G280V	G	+	2	0	XKR9	71808930	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.229000	0.78088	2.597000	0.87782	0.563000	0.77884	GGA		PASS	0.328	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		39	61	39	61	---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87683207	87683207	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr8:87683207C>A	ENST00000320005.5	-	4	505	c.458G>T	c.(457-459)gGa>gTa	p.G153V		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	153					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.G153V(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GGAGAGATCTCCCTCTACCAA	0.493																																						uc003ydx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(457-459)GGA>GTA		cyclic nucleotide gated channel beta 3							213.0	213.0	213.0					8																	87683207		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87683207C>A	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.458G>T	8.37:g.87683207C>A	ENSP00000316605:p.Gly153Val					CNGB3_uc010maj.2_Missense_Mutation_p.G15V	p.G153V	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			4	504	-			153			Cytoplasmic (Potential).		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.458G>T	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849640	0.32699	.	.	ENSG00000170289	ENST00000320005	T	0.61040	0.14	5.53	0.582	0.17412	.	0.498030	0.16692	N	0.203511	T	0.43144	0.1234	L	0.34521	1.04	0.37467	D	0.915449	P;B	0.36048	0.534;0.399	B;B	0.38842	0.283;0.147	T	0.37957	-0.9683	10	0.48119	T	0.1	.	6.29	0.21054	0.0:0.4146:0.2084:0.3769	.	153;153	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	V	153	ENSP00000316605:G153V	ENSP00000316605:G153V	G	-	2	0	CNGB3	87752323	0.000000	0.05858	0.425000	0.26659	0.830000	0.47004	-0.123000	0.10611	0.293000	0.22520	0.591000	0.81541	GGA		PASS	0.493	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		225	237	225	237	---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106814722	106814722	+	Silent	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr8:106814722G>T	ENST00000407775.2	+	8	2662	c.2412G>T	c.(2410-2412)acG>acT	p.T804T	RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Silent_p.T672T|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.T535T|ZFPM2_ENST00000517361.1_Silent_p.T672T|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	804					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T804T(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTTCTCTGACGATCAACAAGT	0.443																																						uc003ymd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(2410-2412)ACG>ACT		zinc finger protein, multitype 2							53.0	50.0	51.0					8																	106814722		1931	4150	6081	SO:0001819	synonymous_variant	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814722G>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2412G>T	8.37:g.106814722G>T						ZFPM2_uc011lhs.1_Silent_p.T535T	p.T804T	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2435	+			804					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	c.2412G>T	CCDS47908.1																																																																																				PASS	0.443	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			33	22	33	22	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113563053	113563053	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr8:113563053C>A	ENST00000297405.5	-	27	4655	c.4411G>T	c.(4411-4413)Gtc>Ttc	p.V1471F	CSMD3_ENST00000455883.2_Missense_Mutation_p.V1367F|CSMD3_ENST00000352409.3_Missense_Mutation_p.V1471F|CSMD3_ENST00000343508.3_Missense_Mutation_p.V1431F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1471	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V1431F(1)|p.V1471F(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCGTCCCAGACTCGGAGTATA	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(4411-4413)GTC>TTC		CUB and Sushi multiple domains 3 isoform 1							73.0	71.0	71.0					8																	113563053		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113563053C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4411G>T	8.37:g.113563053C>A	ENSP00000297405:p.Val1471Phe	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.V743F|CSMD3_uc003ynt.2_Missense_Mutation_p.V1431F|CSMD3_uc011lhx.1_Missense_Mutation_p.V1367F	p.V1471F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			27	4570	-			1471			Extracellular (Potential).|CUB 8.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4411G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861007	0.71949	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	4.36	4.36	0.52297	CUB (5);	0.088102	0.44902	D	0.000416	D	0.82388	0.5026	M	0.83953	2.67	0.38871	D	0.956702	D;D;D	0.61080	0.975;0.988;0.989	P;D;P	0.67548	0.861;0.952;0.888	D	0.86662	0.1905	10	0.72032	D	0.01	.	17.4138	0.87494	0.0:1.0:0.0:0.0	.	1367;1471;1431	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	1431;1471;811;1367;1471	ENSP00000345799:V1431F;ENSP00000297405:V1471F;ENSP00000341558:V811F;ENSP00000412263:V1367F;ENSP00000343124:V1471F	ENSP00000297405:V1471F	V	-	1	0	CSMD3	113632229	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	5.882000	0.69714	2.412000	0.81896	0.591000	0.81541	GTC		PASS	0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		34	114	34	114	---	---	---	---
TG	7038	broad.mit.edu	37	8	134108523	134108523	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr8:134108523C>G	ENST00000220616.4	+	43	7518	c.7478C>G	c.(7477-7479)gCc>gGc	p.A2493G	TG_ENST00000377869.1_Missense_Mutation_p.A2436G|SLA_ENST00000518565.1_Intron|SLA_ENST00000524345.1_Intron|SLA_ENST00000395352.3_Intron|TG_ENST00000519543.1_Missense_Mutation_p.A626G|SLA_ENST00000338087.5_Intron|TG_ENST00000542445.1_Missense_Mutation_p.A863G|SLA_ENST00000517648.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2493					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.A2493G(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGCCTCCAGCCAGAGCACTG	0.542																																						uc003ytw.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(7477-7479)GCC>GGC		thyroglobulin precursor							161.0	155.0	157.0					8																	134108523		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134108523C>G	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7478C>G	8.37:g.134108523C>G	ENSP00000220616:p.Ala2493Gly					TG_uc010mdw.2_Missense_Mutation_p.A1252G|TG_uc011ljb.1_Missense_Mutation_p.A862G|TG_uc011ljc.1_Missense_Mutation_p.A626G|SLA_uc003ytz.2_Intron|SLA_uc011lje.1_Intron|SLA_uc011ljf.1_Intron|SLA_uc011ljg.1_Intron|SLA_uc010mea.2_Intron	p.A2493G	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	43	7519	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2493					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.7478C>G	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.00|19.00	3.741871|3.741871	0.69304|0.69304	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000519178	T;T;T;T|.	0.66995|.	-0.24;-0.24;-0.24;-0.24|.	5.26|5.26	5.26|5.26	0.73747|0.73747	Carboxylesterase, type B (1);|.	0.280631|.	0.31031|.	N|.	0.008383|.	T|T	0.70701|0.70701	0.3254|0.3254	M|M	0.64260|0.64260	1.97|1.97	0.80722|0.80722	D|D	1|1	P;P;P|.	0.45044|.	0.849;0.529;0.72|.	P;B;B|.	0.47299|.	0.543;0.23;0.266|.	T|T	0.69709|0.69709	-0.5072|-0.5072	10|5	0.72032|.	D|.	0.01|.	.|.	14.3659|14.3659	0.66805|0.66805	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	626;863;2493|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	G|R	2436;1299;2493;863;626|948	ENSP00000367100:A2436G;ENSP00000220616:A2493G;ENSP00000441693:A863G;ENSP00000430430:A626G|.	ENSP00000220616:A2493G|.	A|S	+|+	2|3	0|2	TG|TG	134177705|134177705	0.416000|0.416000	0.25424|0.25424	0.993000|0.993000	0.49108|0.49108	0.609000|0.609000	0.37215|0.37215	3.153000|3.153000	0.50685|0.50685	2.446000|2.446000	0.82766|0.82766	0.655000|0.655000	0.94253|0.94253	GCC|AGC		PASS	0.542	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		182	337	182	337	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139144962	139144962	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr8:139144962G>T	ENST00000395297.1	-	20	4265	c.4095C>A	c.(4093-4095)aaC>aaA	p.N1365K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1365								p.N1365K(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CGTGGAACACGTTGTGTCGGA	0.532										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(4093-4095)AAC>AAA		hypothetical protein LOC51059							253.0	260.0	258.0					8																	139144962		1984	4164	6148	SO:0001583	missense	51059							g.chr8:139144962G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.4095C>A	8.37:g.139144962G>T	ENSP00000378710:p.Asn1365Lys	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.N1266K|FAM135B_uc003yuz.2_RNA	p.N1365K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		20	4266	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1365					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.4095C>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176732	0.78564	.	.	ENSG00000147724	ENST00000395297	T	0.15017	2.46	5.65	-3.29	0.05017	.	0.054887	0.64402	D	0.000001	T	0.30417	0.0764	L	0.59436	1.845	0.43761	D	0.996279	D	0.76494	0.999	D	0.66847	0.947	T	0.02958	-1.1089	10	0.87932	D	0	-30.568	12.6837	0.56936	0.6589:0.0:0.3411:0.0	.	1365	Q49AJ0	F135B_HUMAN	K	1365	ENSP00000378710:N1365K	ENSP00000378710:N1365K	N	-	3	2	FAM135B	139214144	0.917000	0.31117	0.972000	0.41901	0.994000	0.84299	0.025000	0.13577	-0.674000	0.05253	-0.229000	0.12294	AAC		PASS	0.532	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		176	415	176	415	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139164371	139164371	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr8:139164371C>A	ENST00000395297.1	-	13	2517	c.2347G>T	c.(2347-2349)Gct>Tct	p.A783S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	783								p.A783S(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCATCTTCAGCAGCCTCCTCT	0.507										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(2347-2349)GCT>TCT		hypothetical protein LOC51059							44.0	46.0	45.0					8																	139164371		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139164371C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2347G>T	8.37:g.139164371C>A	ENSP00000378710:p.Ala783Ser	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.A684S|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.A345S|FAM135B_uc003yvb.2_Missense_Mutation_p.A345S	p.A783S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2518	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		783					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2347G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	8.153	0.787905	0.16258	.	.	ENSG00000147724	ENST00000395297	T	0.15603	2.41	5.43	2.58	0.30949	.	0.407407	0.25916	N	0.027461	T	0.08268	0.0206	N	0.20986	0.625	0.21064	N	0.999795	B;B;B	0.30281	0.275;0.176;0.017	B;B;B	0.28916	0.096;0.037;0.012	T	0.35051	-0.9804	10	0.10902	T	0.67	-8.0449	4.3723	0.11253	0.2515:0.4372:0.2401:0.0712	.	783;783;783	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	S	783	ENSP00000378710:A783S	ENSP00000276737:A783S	A	-	1	0	FAM135B	139233553	0.000000	0.05858	0.025000	0.17156	0.176000	0.22953	-0.036000	0.12185	0.236000	0.21180	0.655000	0.94253	GCT		PASS	0.507	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		81	56	81	56	---	---	---	---
CYP11B1	1584	broad.mit.edu	37	8	143960491	143960491	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr8:143960491C>T	ENST00000292427.4	-	2	384	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	CYP11B1_ENST00000377675.3_Missense_Mutation_p.A163T|CYP11B1_ENST00000517471.1_Missense_Mutation_p.A118T	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	118					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.A118T(2)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	TGTCTGTAGGCCACCCAGGGC	0.627									Familial Hyperaldosteronism type I																													uc003yxi.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(3)	3						c.(352-354)GCC>ACC		cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)						196.0	142.0	160.0					8																	143960491		2203	4300	6503	SO:0001583	missense	1584	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143960491C>T	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.352G>A	8.37:g.143960491C>T	ENSP00000292427:p.Ala118Thr					CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.A118T|CYP11B1_uc010mey.2_Missense_Mutation_p.A163T	p.A118T	NM_000497	NP_000488	P15538	C11B1_HUMAN			2	359	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		118					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.352G>A	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832238	0.50845	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.69175	-0.38;-0.38;-0.32	3.56	2.66	0.31614	.	0.319926	0.22080	N	0.064910	T	0.70996	0.3288	L	0.61387	1.9	0.23568	N	0.997393	B;B;D	0.67145	0.275;0.45;0.996	B;B;D	0.66196	0.083;0.264;0.942	T	0.60037	-0.7341	10	0.10377	T	0.69	.	7.4545	0.27258	0.0:0.8686:0.0:0.1314	.	163;118;118	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	T	118;118;163	ENSP00000292427:A118T;ENSP00000428043:A118T;ENSP00000366903:A163T	ENSP00000292427:A118T	A	-	1	0	CYP11B1	143957493	0.131000	0.22433	0.750000	0.31169	0.959000	0.62525	0.595000	0.24029	0.570000	0.29347	0.491000	0.48974	GCC		PASS	0.627	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			81	66	81	66	---	---	---	---
RANBP6	26953	broad.mit.edu	37	9	6015055	6015055	+	Silent	SNP	A	A	G			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr9:6015055A>G	ENST00000259569.5	-	1	563	c.553T>C	c.(553-555)Ttg>Ctg	p.L185L	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	185					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L185L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CACTGGTCCAACAACCGTTTG	0.428																																						uc003zjr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(553-555)TTG>CTG		RAN binding protein 6							78.0	69.0	72.0					9																	6015055		2203	4300	6503	SO:0001819	synonymous_variant	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6015055A>G	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.553T>C	9.37:g.6015055A>G						RANBP6_uc011lmf.1_Intron|RANBP6_uc003zjs.2_Intron	p.L185L	NM_012416	NP_036548	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	564	-		Acute lymphoblastic leukemia(23;0.158)	185					Q5T7X4|Q7Z3V2|Q96E78	Silent	SNP	ENST00000259569.5	37	c.553T>C	CCDS6467.1																																																																																				PASS	0.428	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		64	85	64	85	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14857664	14857664	+	Nonsense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr9:14857664C>A	ENST00000380880.3	-	5	1498	c.715G>T	c.(715-717)Gag>Tag	p.E239*	FREM1_ENST00000422223.2_Nonsense_Mutation_p.E239*|FREM1_ENST00000380881.4_Nonsense_Mutation_p.E239*			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	239					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.E239*(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGCAGGAACTCCTCACAGCTC	0.478																																						uc003zlm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(715-717)GAG>TAG		FRAS1 related extracellular matrix 1 precursor							148.0	145.0	146.0					9																	14857664		1890	4128	6018	SO:0001587	stop_gained	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14857664C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.715G>T	9.37:g.14857664C>A	ENSP00000370262:p.Glu239*					FREM1_uc010mic.2_RNA	p.E239*	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	5	1305	-			239					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Nonsense_Mutation	SNP	ENST00000380880.3	37	c.715G>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	46	12.472984	0.99670	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	.	.	.	6.04	5.14	0.70334	.	0.203591	0.52532	D	0.000079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-15.7853	17.4427	0.87569	0.0:0.8756:0.1244:0.0	.	.	.	.	X	239	.	ENSP00000370257:E239X	E	-	1	0	FREM1	14847664	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.638000	0.54332	1.545000	0.49373	0.563000	0.77884	GAG		PASS	0.478	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		77	90	77	90	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971000	21971000	+	Nonsense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr9:21971000C>A	ENST00000304494.5	-	2	628	c.358G>T	c.(358-360)Gag>Tag	p.E120*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000530628.2_3'UTR|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	120			E -> A (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.|E -> K (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(13)|p.E120*(9)|p.E120K(4)|p.0(1)|p.A118fs*10(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGGCCCAGCTCCTCAGCCAGG	0.726		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1343	Whole gene deletion(1316)|Unknown(13)|Substitution - Nonsense(9)|Substitution - Missense(4)|Deletion - Frameshift(1)	p.0?(1112)|p.?(13)|p.E120*(8)|p.E120K(4)|p.E120A(1)|p.A118fs*10(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(164)|lung(150)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|upper_aerodigestive_tract(50)|oesophagus(49)|ovary(34)|kidney(30)|pancreas(30)|breast(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CD972119	CDKN2A	D		c.(358-360)GAG>TAG		cyclin-dependent kinase inhibitor 2A isoform 1							24.0	27.0	26.0					9																	21971000		2202	4298	6500	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971000C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.358G>T	9.37:g.21971000C>A	ENSP00000307101:p.Glu120*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR	p.E120*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	570	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	120		E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma).	ANK 4.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.358G>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	37	6.320898	0.97471	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	5.93	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-15.0988	14.364	0.66792	0.0:0.8518:0.1482:0.0	.	.	.	.	X	120	.	ENSP00000307101:E120X	E	-	1	0	CDKN2A	21961000	0.585000	0.26774	1.000000	0.80357	0.613000	0.37349	1.323000	0.33701	1.489000	0.48450	0.655000	0.94253	GAG		PASS	0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		31	34	31	34	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32632793	32632793	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr9:32632793C>A	ENST00000242310.4	-	1	2874	c.2785G>T	c.(2785-2787)Gcc>Tcc	p.A929S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	929					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.A929S(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTTCTGGGGCAAAAAAGGAT	0.458																																						uc003zrg.1																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(2785-2787)GCC>TCC		TBP-associated factor RNA polymerase 1-like							167.0	154.0	159.0					9																	32632793		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632793C>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2785G>T	9.37:g.32632793C>A	ENSP00000418379:p.Ala929Ser					uc003zrh.1_5'Flank	p.A929S	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2875	-			929					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.2785G>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670307	0.47677	.	.	ENSG00000122728	ENST00000242310	T	0.14144	2.53	1.04	1.04	0.20106	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.096626	0.64402	D	0.000001	T	0.14313	0.0346	L	0.36672	1.1	0.50171	D	0.999851	P	0.42123	0.771	P	0.48334	0.574	T	0.03278	-1.1053	10	0.62326	D	0.03	.	7.4859	0.27432	0.0:1.0:0.0:0.0	.	929	Q8IZX4	TAF1L_HUMAN	S	929	ENSP00000418379:A929S	ENSP00000418379:A929S	A	-	1	0	TAF1L	32622793	1.000000	0.71417	0.993000	0.49108	0.772000	0.43724	4.906000	0.63293	0.507000	0.28148	0.195000	0.17529	GCC		PASS	0.458	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			85	154	85	154	---	---	---	---
FRMPD1	22844	broad.mit.edu	37	9	37740318	37740318	+	Missense_Mutation	SNP	G	G	A	rs540607464		TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr9:37740318G>A	ENST00000539465.1	+	15	2386	c.1793G>A	c.(1792-1794)cGc>cAc	p.R598H	FRMPD1_ENST00000536622.1_Missense_Mutation_p.R420H|FRMPD1_ENST00000541302.1_Missense_Mutation_p.R467H|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.R598H			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	598						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.R598H(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		ACTGAGAGCCGCGGCTACAGG	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16504	0.0		0.0	False		,,,				2504	0.0					uc004aag.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(1792-1794)CGC>CAC		FERM and PDZ domain containing 1							35.0	37.0	36.0					9																	37740318		2196	4285	6481	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37740318G>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1793G>A	9.37:g.37740318G>A	ENSP00000444411:p.Arg598His					FRMPD1_uc004aah.1_Missense_Mutation_p.R598H|FRMPD1_uc011lqm.1_Missense_Mutation_p.R420H|FRMPD1_uc011lqn.1_Missense_Mutation_p.R467H	p.R598H	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	15	1837	+			598					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.1793G>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545145	0.45280	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.21734	2.88;2.88;1.99;2.0	5.81	4.92	0.64577	.	0.374327	0.28376	N	0.015561	T	0.13243	0.0321	L	0.41710	1.295	0.36441	D	0.86546	P;P	0.40360	0.482;0.714	B;B	0.26202	0.032;0.067	T	0.19031	-1.0318	10	0.39692	T	0.17	-6.1125	8.9161	0.35583	0.1668:0.0:0.8332:0.0	.	467;598	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	H	598;598;420;467	ENSP00000366995:R598H;ENSP00000444411:R598H;ENSP00000437762:R420H;ENSP00000444804:R467H	ENSP00000366995:R598H	R	+	2	0	FRMPD1	37730318	1.000000	0.71417	0.933000	0.37362	0.855000	0.48748	3.320000	0.51991	1.476000	0.48215	0.561000	0.74099	CGC		PASS	0.632	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		26	31	26	31	---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104385621	104385622	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr9:104385621_104385622CC>AA	ENST00000361820.3	-	5	3192_3193	c.2592_2593GG>TT	c.(2590-2595)gtGGgg>gtTTgg	p.G865W		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	865					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.G865W(2)|p.V864V(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AATGGCTTCCCCACAGTGAGAA	0.416																																						uc004bbp.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(2593-2595)GGG>TGG|c.(2590-2592)GTG>GTT		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)																																			SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104385621C>A|g.chr9:104385622C>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2592_2593delinsAA	9.37:g.104385621_104385622delinsAA	ENSP00000355155:p.Gly865Trp					GRIN3A_uc004bbq.1_Missense_Mutation_p.G865W|GRIN3A_uc004bbq.1_Silent_p.V864V	p.G865W|p.V864V	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			5	3194|3193	-		Acute lymphoblastic leukemia(62;0.0568)	865|864			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation|Silent	SNP	ENST00000361820.3	37	c.2593G>T|c.2592G>T	CCDS6758.1																																																																																				PASS	0.416	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			34|32	63|62	32	62	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119738461	119738461	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr9:119738461C>A	ENST00000313400.4	-	9	1783	c.1683G>T	c.(1681-1683)tgG>tgT	p.W561C	ASTN2_ENST00000373996.3_Missense_Mutation_p.W561C|ASTN2_ENST00000361209.2_Missense_Mutation_p.W510C|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	561					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.W510C(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCGTGTAGGGCCAAGGTCTAT	0.483																																						uc004bjs.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(1681-1683)TGG>TGT		astrotactin 2 isoform c							81.0	74.0	76.0					9																	119738461		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119738461C>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1683G>T	9.37:g.119738461C>A	ENSP00000314038:p.Trp561Cys					ASTN2_uc004bjr.1_Missense_Mutation_p.W561C|ASTN2_uc004bjt.1_Missense_Mutation_p.W510C	p.W561C	NM_198187	NP_937830	O75129	ASTN2_HUMAN			9	1784	-			561			Extracellular (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.1683G>T		.	.	.	.	.	.	.	.	.	.	C	17.31	3.358556	0.61403	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.23552	1.9;2.61;2.45;2.03	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.999	T	0.06935	-1.0799	9	.	.	.	-14.1249	19.3057	0.94161	0.0:1.0:0.0:0.0	.	510;561;561	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	C	561;561;288;510	ENSP00000314038:W561C;ENSP00000363108:W561C;ENSP00000363098:W288C;ENSP00000354504:W510C	.	W	-	3	0	ASTN2	118778282	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.910000	0.69931	2.657000	0.90304	0.655000	0.94253	TGG		PASS	0.483	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		26	27	26	27	---	---	---	---
SH2D3C	10044	broad.mit.edu	37	9	130536590	130536590	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr9:130536590G>C	ENST00000314830.8	-	2	307	c.194C>G	c.(193-195)cCa>cGa	p.P65R	SH2D3C_ENST00000373277.4_5'Flank|SH2D3C_ENST00000471939.1_5'Flank	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	65					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.P65R(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGCATAGGCTGGGGGACTCTT	0.597																																						uc004bsc.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(193-195)CCA>CGA		SH2 domain containing 3C isoform a							56.0	52.0	53.0					9																	130536590		2203	4300	6503	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130536590G>C	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.194C>G	9.37:g.130536590G>C	ENSP00000317817:p.Pro65Arg					SH2D3C_uc004bsa.2_5'Flank|SH2D3C_uc004bsb.2_5'Flank|SH2D3C_uc004bsd.1_Missense_Mutation_p.P9R	p.P65R	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN			2	336	-			65					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.194C>G	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657490	0.29425	.	.	ENSG00000095370	ENST00000314830	T	0.12361	2.69	5.08	2.07	0.26955	.	0.249192	0.28778	N	0.014166	T	0.09598	0.0236	L	0.46157	1.445	0.20403	N	0.999906	B	0.34015	0.435	B	0.33890	0.172	T	0.18681	-1.0329	10	0.16420	T	0.52	.	4.9185	0.13858	0.196:0.2456:0.5584:0.0	.	65	Q8N5H7	SH2D3_HUMAN	R	65	ENSP00000317817:P65R	ENSP00000317817:P65R	P	-	2	0	SH2D3C	129576411	0.000000	0.05858	0.863000	0.33907	0.996000	0.88848	0.207000	0.17395	1.288000	0.44600	0.561000	0.74099	CCA		PASS	0.597	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		20	45	20	45	---	---	---	---
COQ4	51117	broad.mit.edu	37	9	131094462	131094462	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr9:131094462C>G	ENST00000300452.3	+	5	756	c.433C>G	c.(433-435)Cgc>Ggc	p.R145G	COQ4_ENST00000461102.1_3'UTR	NM_016035.3	NP_057119			coenzyme Q4									p.R145G(1)		endometrium(4)|large_intestine(1)|lung(4)	9						AGCACCCACCCGCTTCGTGGA	0.602																																						uc004bur.3																			1	Substitution - Missense(1)		lung(1)		0						c.(433-435)CGC>GGC		coenzyme Q4 homolog precursor							82.0	53.0	63.0					9																	131094462		2202	4300	6502	SO:0001583	missense	51117				ubiquinone biosynthetic process	mitochondrial inner membrane		g.chr9:131094462C>G	AF151850	CCDS6898.1	9q34.2	2013-10-18	2013-10-18		ENSG00000167113	ENSG00000167113			19693	protein-coding gene	gene with protein product		612898	"""coenzyme Q4 homolog (yeast)"", ""coenzyme Q4 homolog (S. cerevisiae)"""			11469793, 18474229	Standard	NM_016035		Approved	CGI-92	uc004bur.4	Q9Y3A0	OTTHUMG00000020743	ENST00000300452.3:c.433C>G	9.37:g.131094462C>G	ENSP00000300452:p.Arg145Gly					COQ4_uc004bus.2_Missense_Mutation_p.R121G|COQ4_uc010mxy.2_Missense_Mutation_p.R121G	p.R145G	NM_016035	NP_057119	Q9Y3A0	COQ4_HUMAN			5	780	+			145						Missense_Mutation	SNP	ENST00000300452.3	37	c.433C>G	CCDS6898.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379625	0.82682	.	.	ENSG00000167113	ENST00000300452	T	0.48836	0.8	5.85	5.85	0.93711	.	0.111616	0.56097	D	0.000025	T	0.69646	0.3134	M	0.90425	3.115	0.80722	D	1	D	0.58970	0.984	P	0.60236	0.871	T	0.72821	-0.4177	10	0.42905	T	0.14	-33.9285	12.7181	0.57127	0.2576:0.7424:0.0:0.0	.	145	Q9Y3A0	COQ4_HUMAN	G	145	ENSP00000300452:R145G	ENSP00000300452:R145G	R	+	1	0	COQ4	130134283	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.175000	0.71949	2.771000	0.95319	0.561000	0.74099	CGC		PASS	0.602	COQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054427.1	NM_016035		9	14	9	14	---	---	---	---
LAMC3	10319	broad.mit.edu	37	9	133914549	133914549	+	Silent	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr9:133914549C>A	ENST00000361069.4	+	6	1330	c.1197C>A	c.(1195-1197)ggC>ggA	p.G399G	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	399	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.G399G(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ATGACACAGGCACCTGCGCCT	0.657																																						uc004caa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1195-1197)GGC>GGA		laminin, gamma 3 precursor							70.0	62.0	65.0					9																	133914549		2203	4300	6503	SO:0001819	synonymous_variant	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133914549C>A	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1197C>A	9.37:g.133914549C>A							p.G399G	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	6	1295	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	399			Laminin EGF-like 3.		B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	c.1197C>A	CCDS6938.1																																																																																				PASS	0.657	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		22	44	22	44	---	---	---	---
RALGDS	5900	broad.mit.edu	37	9	135983376	135983376	+	Splice_Site	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr9:135983376G>A	ENST00000372050.3	-	6	1217	c.1196C>T	c.(1195-1197)gCg>gTg	p.A399V	RALGDS_ENST00000393160.3_Splice_Site_p.A344V|RALGDS_ENST00000372047.3_Splice_Site_p.A387V|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372062.3_Splice_Site_p.A370V|RALGDS_ENST00000542690.1_Splice_Site_p.A470V|RALGDS_ENST00000393157.3_Splice_Site_p.A398V	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	399	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)	p.A399V(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GCTGCTCACCGCATCCATCAG	0.577			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)	uc004cco.2				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		PMBL|Hodgkin Lymphona|		1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(1195-1197)GCG>GTG		ral guanine nucleotide dissociation stimulator							70.0	56.0	60.0					9																	135983376		2203	4299	6502	SO:0001630	splice_region_variant	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135983376G>A	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.1197+1C>T	9.37:g.135983376G>A						RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.A387V|RALGDS_uc004ccr.2_Missense_Mutation_p.A398V|RALGDS_uc011mcv.1_Missense_Mutation_p.A370V|RALGDS_uc004ccs.2_Missense_Mutation_p.A344V|RALGDS_uc011mcw.1_Missense_Mutation_p.A470V|RALGDS_uc004ccv.1_Missense_Mutation_p.A168V|RALGDS_uc004ccu.1_Missense_Mutation_p.A168V	p.A399V	NM_006266	NP_006257	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	6	1216	-			399			Ras-GEF.		B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.1196C>T	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802694	0.70682	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000372051;ENST00000393157;ENST00000542690;ENST00000372062;ENST00000424572	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.39	4.49	0.54785	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.64402	D	0.000007	T	0.45337	0.1337	L	0.48174	1.505	0.58432	D	0.999994	D;P;P;D;P;D;D;P	0.76494	0.999;0.454;0.933;0.976;0.625;0.999;0.999;0.946	P;B;P;P;B;D;P;P	0.67231	0.808;0.072;0.54;0.67;0.235;0.95;0.881;0.547	T	0.28267	-1.0049	10	0.38643	T	0.18	.	13.0261	0.58817	0.079:0.0:0.921:0.0	.	470;370;399;387;344;398;387;399	F5H6M6;E7ER93;Q12967-2;Q8TEK9;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;.;.;GNDS_HUMAN	V	399;387;344;168;398;470;370;31	ENSP00000361120:A399V;ENSP00000361117:A387V;ENSP00000376867:A344V;ENSP00000376864:A398V;ENSP00000437518:A470V;ENSP00000361132:A370V;ENSP00000391814:A31V	ENSP00000361117:A387V	A	-	2	0	RALGDS	134973197	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	7.704000	0.84595	1.283000	0.44513	0.655000	0.94253	GCG		PASS	0.577	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266	Missense_Mutation	4	102	4	102	---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137721880	137721880	+	Missense_Mutation	SNP	G	G	A	rs193275092	byFrequency	TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr9:137721880G>A	ENST00000371817.3	+	64	5540	c.5126G>A	c.(5125-5127)cGt>cAt	p.R1709H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1709	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.R1709H(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAATTCAAGCGTGGGAAACTG	0.537													G|||	3	0.000599042	0.0015	0.0	5008	,	,		16246	0.001		0.0	False		,,,				2504	0.0					uc004cfe.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(5125-5127)CGT>CAT		alpha 1 type V collagen preproprotein		G	HIS/ARG	0,4406		0,0,2203	83.0	78.0	80.0		5126	5.0	1.0	9		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL5A1	NM_000093.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	1709/1839	137721880	1,13005	2203	4300	6503	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.chr9:137721880G>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.5126G>A	9.37:g.137721880G>A	ENSP00000360882:p.Arg1709His					uc004cff.2_Intron	p.R1709H	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)	64	5508	+		Myeloproliferative disorder(178;0.0341)	1709			Fibrillar collagen NC1.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.5126G>A	CCDS6982.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.45	3.627734	0.66901	0.0	1.16E-4	ENSG00000130635	ENST00000371817	T	0.73575	-0.76	4.99	4.99	0.66335	Fibrillar collagen, C-terminal (3);	0.000000	0.64402	U	0.000001	T	0.76564	0.4005	M	0.87682	2.9	0.53688	D	0.999972	P	0.34724	0.465	B	0.21151	0.033	T	0.81226	-0.1029	10	0.66056	D	0.02	.	18.6249	0.91333	0.0:0.0:1.0:0.0	.	1709	P20908	CO5A1_HUMAN	H	1709	ENSP00000360882:R1709H	ENSP00000360882:R1709H	R	+	2	0	COL5A1	136861701	1.000000	0.71417	0.984000	0.44739	0.994000	0.84299	7.918000	0.87506	2.453000	0.82957	0.655000	0.94253	CGT		PASS	0.537	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		3	50	3	50	---	---	---	---
PMPCA	23203	broad.mit.edu	37	9	139310803	139310803	+	Missense_Mutation	SNP	G	G	A	rs138828077	byFrequency	TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr9:139310803G>A	ENST00000371717.3	+	6	602	c.593G>A	c.(592-594)cGg>cAg	p.R198Q	PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000371720.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.R67Q	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	198					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.R198Q(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		CTGAACCTGCGGCCTGACCCA	0.562													G|||	2	0.000399361	0.0	0.0	5008	,	,		20617	0.002		0.0	False		,,,				2504	0.0					uc004chl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(592-594)CGG>CAG		peptidase (mitochondrial processing) alpha							95.0	88.0	91.0					9																	139310803		2203	4300	6503	SO:0001583	missense	23203				proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139310803G>A	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.593G>A	9.37:g.139310803G>A	ENSP00000360782:p.Arg198Gln					PMPCA_uc011mdy.1_Missense_Mutation_p.R198Q|PMPCA_uc010nbk.2_RNA|PMPCA_uc010nbl.2_Missense_Mutation_p.R98Q|PMPCA_uc011mdz.1_Missense_Mutation_p.R67Q|PMPCA_uc004chm.1_5'UTR|PMPCA_uc004chn.1_5'Flank	p.R198Q	NM_015160	NP_055975	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	6	598	+		Myeloproliferative disorder(178;0.0821)	198					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	c.593G>A	CCDS35180.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	34	5.383480	0.95967	.	.	ENSG00000165688	ENST00000371717;ENST00000399219	T;T	0.16897	2.31;2.31	5.34	5.34	0.76211	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.24547	0.0595	L	0.52905	1.665	0.80722	D	1	P;P;P;P	0.48230	0.53;0.58;0.907;0.907	B;B;P;P	0.45343	0.206;0.298;0.477;0.477	T	0.00686	-1.1610	10	0.38643	T	0.18	.	18.4007	0.90515	0.0:0.0:1.0:0.0	.	67;198;198;198	B4DKL3;B4DRK5;Q5SXM9;Q10713	.;.;.;MPPA_HUMAN	Q	198;67	ENSP00000360782:R198Q;ENSP00000416702:R67Q	ENSP00000360782:R198Q	R	+	2	0	PMPCA	138430624	1.000000	0.71417	0.925000	0.36789	0.853000	0.48598	9.563000	0.98148	2.647000	0.89833	0.655000	0.94253	CGG		PASS	0.562	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160		60	89	60	89	---	---	---	---
ABI1	10006	broad.mit.edu	37	10	27059274	27059275	+	Splice_Site	DNP	GC	GC	AA			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr10:27059274_27059275GC>AA	ENST00000376142.2	-	5	549	c.478_478GC>TT	c.(478-480)GCca>TTcca	p.A160F	ABI1_ENST00000376137.4_Splice_Site_p.A161F|ABI1_ENST00000536334.1_Splice_Site_p.A161F|ABI1_ENST00000376134.3_Splice_Site_p.A161F|ABI1_ENST00000376139.2_Splice_Site_p.A155F|ABI1_ENST00000346832.5_Splice_Site_p.A177F|ABI1_ENST00000376160.1_Splice_Site_p.A155F|ABI1_ENST00000490841.2_Splice_Site_p.A96F|ABI1_ENST00000376138.3_Splice_Site_p.A160F|ABI1_ENST00000359188.4_Splice_Site_p.A160F|ABI1_ENST00000376140.3_Splice_Site_p.A160F|ABI1_ENST00000355394.4_Splice_Site_p.A161F|ABI1_ENST00000376170.4_Splice_Site_p.A160F|ABI1_ENST00000376166.1_Splice_Site_p.A155F	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	160					actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)	p.?(2)|p.H160Y(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTATTTCCATGCTAAAATGTAG	0.386																																						uc001isx.2																			3	Unknown(2)|Substitution - Missense(1)		lung(3)	central_nervous_system(1)	1						c.(478-480)CAT>TAT|c.e5-1		abl-interactor 1 isoform a																																				SO:0001630	splice_region_variant	10006				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding	g.chr10:27059274G>A|g.chr10:27059275C>A	U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"""spectrin SH3 domain binding protein 1"""	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.478_478delinsAA	10.37:g.27059274_27059275delinsAA						ABI1_uc001ite.2_Missense_Mutation_p.H155Y|ABI1_uc010qdh.1_Missense_Mutation_p.H155Y|ABI1_uc010qdi.1_Missense_Mutation_p.H96Y|ABI1_uc001isy.2_Missense_Mutation_p.H160Y|ABI1_uc001ita.2_Missense_Mutation_p.H160Y|ABI1_uc001isz.2_Missense_Mutation_p.H155Y|ABI1_uc001itb.2_Missense_Mutation_p.H177Y|ABI1_uc001itc.2_Missense_Mutation_p.H160Y|ABI1_uc010qdj.1_Missense_Mutation_p.H160Y|ABI1_uc001itd.2_Missense_Mutation_p.H160Y|ABI1_uc010qdk.1_Missense_Mutation_p.H160Y|ABI1_uc010qdg.1_Missense_Mutation_p.H26Y|ABI1_uc001ite.2_Splice_Site_p.H155_splice|ABI1_uc010qdh.1_Splice_Site_p.H155_splice|ABI1_uc010qdi.1_Splice_Site_p.H96_splice|ABI1_uc001isy.2_Splice_Site_p.H160_splice|ABI1_uc001ita.2_Splice_Site_p.H160_splice|ABI1_uc001isz.2_Splice_Site_p.H155_splice|ABI1_uc001itb.2_Splice_Site_p.H177_splice|ABI1_uc001itc.2_Splice_Site_p.H160_splice|ABI1_uc010qdj.1_Splice_Site_p.H160_splice|ABI1_uc001itd.2_Splice_Site_p.H160_splice|ABI1_uc010qdk.1_Splice_Site_p.H160_splice|ABI1_uc010qdg.1_Splice_Site_p.H26_splice	p.H160Y|p.H160_splice	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN			5	645	-			160|					A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Missense_Mutation|Splice_Site	SNP	ENST00000376142.2	37	c.478C>T|c.478_splice	CCDS7150.1																																																																																				PASS	0.386	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047287.1	NM_005470	Missense_Mutation	50|49	13|14	49	13	---	---	---	---
MPP7	143098	broad.mit.edu	37	10	28348635	28348635	+	Silent	SNP	A	A	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr10:28348635A>T	ENST00000375732.1	-	14	1501	c.1242T>A	c.(1240-1242)ggT>ggA	p.G414G	MPP7_ENST00000337532.5_Silent_p.G414G|MPP7_ENST00000375719.3_Silent_p.G414G|MPP7_ENST00000445954.2_Silent_p.G289G|MPP7_ENST00000540098.1_Silent_p.G414G			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	414	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)	p.G414G(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TGTATTCAACACCATCACTCT	0.338																																						uc001iua.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1240-1242)GGT>GGA		palmitoylated membrane protein 7							126.0	120.0	122.0					10																	28348635		2203	4299	6502	SO:0001819	synonymous_variant	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28348635A>T	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.1242T>A	10.37:g.28348635A>T						MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Silent_p.G414G|MPP7_uc009xla.2_Silent_p.G414G|MPP7_uc010qdv.1_RNA	p.G414G	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN			16	1646	-			414			Guanylate kinase-like.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Silent	SNP	ENST00000375732.1	37	c.1242T>A	CCDS7158.1																																																																																				PASS	0.338	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		43	16	43	16	---	---	---	---
LRRTM3	347731	broad.mit.edu	37	10	68686951	68686951	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr10:68686951G>C	ENST00000361320.4	+	2	855	c.277G>C	c.(277-279)Gac>Cac	p.D93H	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	93					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.D93H(2)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GCTATACCTTGACCATAACCA	0.373																																						uc001jmz.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(277-279)GAC>CAC		leucine rich repeat transmembrane neuronal 3							103.0	107.0	106.0					10																	68686951		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68686951G>C	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.277G>C	10.37:g.68686951G>C	ENSP00000355187:p.Asp93His					CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.D93H	p.D93H	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN			2	827	+			93			Extracellular (Potential).|LRR 2.		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.277G>C	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047242	0.55110	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.57273	0.41	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000002	T	0.53206	0.1782	N	0.04245	-0.25	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.97110	0.983;1.0	T	0.63888	-0.6535	10	0.45353	T	0.12	.	18.0114	0.89225	0.0:0.0:1.0:0.0	.	93;93	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	H	93	ENSP00000355187:D93H	ENSP00000355187:D93H	D	+	1	0	LRRTM3	68356957	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.543000	0.85770	0.655000	0.94253	GAC		PASS	0.373	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		108	24	108	24	---	---	---	---
SPOCK2	9806	broad.mit.edu	37	10	73848064	73848064	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr10:73848064C>A	ENST00000373109.2	-	1	467	c.23G>T	c.(22-24)cGg>cTg	p.R8L	SPOCK2_ENST00000412663.1_Missense_Mutation_p.R8L|SPOCK2_ENST00000317376.4_Missense_Mutation_p.R8L|SPOCK2_ENST00000536168.1_Missense_Mutation_p.R8L	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	8					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)	p.R8L(1)		endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CAGCACCAGCCGCCCGCAGCC	0.682																																						uc001jso.1																			1	Substitution - Missense(1)		lung(1)		0						c.(22-24)CGG>CTG		sparc/osteonectin, cwcv and kazal-like domains							7.0	8.0	8.0					10																	73848064		2117	4086	6203	SO:0001583	missense	9806				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding	g.chr10:73848064C>A	AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.23G>T	10.37:g.73848064C>A	ENSP00000362201:p.Arg8Leu					SPOCK2_uc001jsp.2_Missense_Mutation_p.R8L|SPOCK2_uc010qjs.1_Missense_Mutation_p.R8L|SPOCK2_uc010qjt.1_Missense_Mutation_p.R8L	p.R8L	NM_014767	NP_055582	Q92563	TICN2_HUMAN			1	468	-			8					C9J767|Q6UW87	Missense_Mutation	SNP	ENST00000373109.2	37	c.23G>T	CCDS7313.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481713	0.44147	.	.	ENSG00000107742	ENST00000373109;ENST00000317376;ENST00000536168;ENST00000412663	T;T;T	0.50813	0.73;0.73;0.73	4.94	4.04	0.47022	.	0.389467	0.20048	N	0.100369	T	0.32346	0.0826	N	0.08118	0	0.36680	D	0.87898	B;B	0.28801	0.223;0.218	B;B	0.36244	0.22;0.049	T	0.38373	-0.9664	10	0.45353	T	0.12	-13.2386	12.2352	0.54512	0.0:0.9158:0.0:0.0842	.	8;8	C9J767;Q92563	.;TICN2_HUMAN	L	8	ENSP00000362201:R8L;ENSP00000321108:R8L;ENSP00000439445:R8L	ENSP00000321108:R8L	R	-	2	0	SPOCK2	73518070	0.063000	0.20901	0.996000	0.52242	0.545000	0.35147	0.241000	0.18065	1.075000	0.40932	0.557000	0.71058	CGG		PASS	0.682	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048560.2			9	3	9	3	---	---	---	---
ECD	11319	broad.mit.edu	37	10	74914078	74914078	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr10:74914078G>C	ENST00000372979.4	-	6	925	c.719C>G	c.(718-720)cCt>cGt	p.P240R	ECD_ENST00000610256.1_5'Flank|ECD_ENST00000454759.2_Missense_Mutation_p.P240R|ECD_ENST00000430082.2_Missense_Mutation_p.P240R	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	240					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.P240R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					CAGGTCAATAGGGTCTCGTAG	0.483																																						uc001jtn.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(718-720)CCT>CGT		suppressor of S. cerevisiae gcr2 isoform 1							71.0	68.0	69.0					10																	74914078		2203	4300	6503	SO:0001583	missense	11319				regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity	g.chr10:74914078G>C	BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.719C>G	10.37:g.74914078G>C	ENSP00000362070:p.Pro240Arg					ECD_uc009xqx.2_Missense_Mutation_p.P240R|ECD_uc009xqy.2_Missense_Mutation_p.P240R|ECD_uc001jto.2_Intron	p.P240R	NM_007265	NP_009196	O95905	SGT1_HUMAN			6	962	-	Prostate(51;0.0119)		240					C9JX46|E9PAW8	Missense_Mutation	SNP	ENST00000372979.4	37	c.719C>G	CCDS7321.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027306	0.75390	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000454759;ENST00000453402;ENST00000413026	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.2	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.52273	0.1724	M	0.91561	3.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.59799	-0.7386	10	0.52906	T	0.07	-6.3768	11.3926	0.49824	0.0886:0.0:0.9114:0.0	.	240;240;240	E9PAW8;C9JX46;O95905	.;.;SGT1_HUMAN	R	240;240;240;166;214	ENSP00000362070:P240R;ENSP00000401566:P240R;ENSP00000395786:P240R;ENSP00000391367:P166R;ENSP00000416288:P214R	ENSP00000362070:P240R	P	-	2	0	ECD	74584084	1.000000	0.71417	0.972000	0.41901	0.904000	0.53231	7.429000	0.80309	1.172000	0.42781	0.650000	0.86243	CCT		PASS	0.483	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265		21	14	21	14	---	---	---	---
KIF20B	9585	broad.mit.edu	37	10	91533730	91533730	+	Silent	SNP	T	T	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr10:91533730T>A	ENST00000371728.3	+	33	5453	c.5388T>A	c.(5386-5388)atT>atA	p.I1796I	KIF20B_ENST00000260753.4_Silent_p.I1756I|KIF20B_ENST00000416354.1_Silent_p.I1826I|KIF20B_ENST00000478929.1_3'UTR	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1796	Interaction with PIN1.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.I1756I(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AATTTCAGATTTTAATGGACC	0.284																																						uc001kgs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(5386-5388)ATT>ATA		M-phase phosphoprotein 1							41.0	45.0	44.0					10																	91533730		2199	4289	6488	SO:0001819	synonymous_variant	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91533730T>A	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.5388T>A	10.37:g.91533730T>A						KIF20B_uc001kgr.1_Silent_p.I1756I|KIF20B_uc001kgt.1_Silent_p.I1007I|KIF20B_uc009xtw.1_RNA	p.I1796I	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN			33	5460	+			1796			Interaction with PIN1.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	ENST00000371728.3	37	c.5388T>A																																																																																					PASS	0.284	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		42	15	42	15	---	---	---	---
HTR7	3363	broad.mit.edu	37	10	92508865	92508865	+	Silent	SNP	T	T	G			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr10:92508865T>G	ENST00000336152.3	-	2	1052	c.1026A>C	c.(1024-1026)ccA>ccC	p.P342P	HTR7_ENST00000371721.3_Silent_p.P342P|HTR7_ENST00000371719.2_Silent_p.P342P|HTR7_ENST00000277874.6_Silent_p.P342P	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	342					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.P342P(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GGAGGAAAAATGGCAGCCAGC	0.532																																						uc001kha.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1024-1026)CCA>CCC		5-hydroxytryptamine receptor 7 isoform d	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						81.0	75.0	77.0					10																	92508865		2203	4300	6503	SO:0001819	synonymous_variant	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92508865T>G	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.1026A>C	10.37:g.92508865T>G						HTR7_uc001kgz.2_Silent_p.P342P|HTR7_uc001khb.2_Silent_p.P342P	p.P342P	NM_019859	NP_062873	P34969	5HT7R_HUMAN			2	1269	-			342			Helical; Name=6; (By similarity).		B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Silent	SNP	ENST00000336152.3	37	c.1026A>C	CCDS7408.1																																																																																				PASS	0.532	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		8	53	8	53	---	---	---	---
ENTPD7	57089	broad.mit.edu	37	10	101464369	101464369	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr10:101464369G>A	ENST00000370489.4	+	13	1922	c.1744G>A	c.(1744-1746)Gcc>Acc	p.A582T	CUTC_ENST00000493385.1_Intron	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	582						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.A582T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		ACAAACACGAGCCTCAGCTCC	0.547																																						uc001kqa.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1744-1746)GCC>ACC		ectonucleoside triphosphate diphosphohydrolase							87.0	73.0	77.0					10																	101464369		2203	4300	6503	SO:0001583	missense	57089					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	g.chr10:101464369G>A	AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.1744G>A	10.37:g.101464369G>A	ENSP00000359520:p.Ala582Thr					ENTPD7_uc009xwl.2_Missense_Mutation_p.A584T	p.A582T	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)	13	1922	+		Colorectal(252;0.234)	582			Cytoplasmic (Potential).		B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	ENST00000370489.4	37	c.1744G>A	CCDS7480.1	.	.	.	.	.	.	.	.	.	.	G	8.022	0.759811	0.15846	.	.	ENSG00000198018	ENST00000370489	T	0.13901	2.55	4.9	2.07	0.26955	.	0.306795	0.31484	N	0.007563	T	0.08891	0.0220	L	0.38531	1.155	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	T	0.23476	-1.0187	10	0.10377	T	0.69	-31.8107	8.421	0.32700	0.26:0.0:0.74:0.0	.	582	Q9NQZ7	ENTP7_HUMAN	T	582	ENSP00000359520:A582T	ENSP00000359520:A582T	A	+	1	0	ENTPD7	101454359	0.993000	0.37304	0.991000	0.47740	0.912000	0.54170	0.586000	0.23894	0.287000	0.22375	-0.254000	0.11334	GCC		PASS	0.547	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354		27	4	27	4	---	---	---	---
CCDC186	55088	broad.mit.edu	37	10	115905426	115905426	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr10:115905426T>C	ENST00000369287.3	-	5	1249	c.983A>G	c.(982-984)gAa>gGa	p.E328G	C10orf118_ENST00000543782.1_5'Flank	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		328								p.E328G(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TGTCTCTTTTTCCTTTCGAAG	0.373																																						uc001lbb.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(982-984)GAA>GGA		CTCL tumor antigen L14-2							195.0	183.0	187.0					10																	115905426		2203	4300	6503	SO:0001583	missense	55088							g.chr10:115905426T>C																												ENST00000369287.3:c.983A>G	10.37:g.115905426T>C	ENSP00000358293:p.Glu328Gly					C10orf118_uc009xyd.1_5'Flank|C10orf118_uc001lbc.1_Missense_Mutation_p.E328G|C10orf118_uc009xye.1_RNA	p.E328G	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN		Epithelial(162;0.0161)|all cancers(201;0.0397)	5	1635	-		Colorectal(252;0.172)|Breast(234;0.188)	328			Potential.		Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	c.983A>G	CCDS7587.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.520387	0.85495	.	.	ENSG00000165813	ENST00000369287;ENST00000430353	T	0.53640	0.61	5.52	4.39	0.52855	.	0.105164	0.64402	N	0.000004	T	0.45256	0.1333	M	0.71581	2.175	0.80722	D	1	B	0.21606	0.058	B	0.20184	0.028	T	0.33007	-0.9885	10	0.30854	T	0.27	.	9.9626	0.41706	0.0:0.0766:0.0:0.9234	.	328	Q7Z3E2	CJ118_HUMAN	G	328;434	ENSP00000358293:E328G	ENSP00000358293:E328G	E	-	2	0	C10orf118	115895416	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.918000	0.87506	0.942000	0.37525	0.529000	0.55759	GAA		PASS	0.373	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			4	93	4	93	---	---	---	---
TRIM21	6737	broad.mit.edu	37	11	4411401	4411401	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr11:4411401C>A	ENST00000254436.7	-	2	351	c.239G>T	c.(238-240)aGc>aTc	p.S80I	TRIM21_ENST00000543625.1_Missense_Mutation_p.S80I	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	80					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S80I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		GGCCTCCTGGCTGATTTCTTT	0.567																																						uc001lyy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(238-240)AGC>ATC		tripartite motif protein 21							82.0	85.0	84.0					11																	4411401		2054	4213	6267	SO:0001583	missense	6737				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4411401C>A	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.239G>T	11.37:g.4411401C>A	ENSP00000254436:p.Ser80Ile						p.S80I	NM_003141	NP_003132	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	2	352	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	80					Q5XPV5|Q96RF8	Missense_Mutation	SNP	ENST00000254436.7	37	c.239G>T	CCDS44525.1	.	.	.	.	.	.	.	.	.	.	C	7.285	0.609938	0.14066	.	.	ENSG00000132109	ENST00000254436;ENST00000543625	T;T	0.63913	-0.05;-0.07	4.32	-1.82	0.07857	Zinc finger, RING/FYVE/PHD-type (1);	1.496080	0.03761	N	0.258177	T	0.36608	0.0973	N	0.08118	0	0.09310	N	1	B	0.26318	0.146	B	0.19148	0.024	T	0.19811	-1.0294	10	0.54805	T	0.06	.	1.8158	0.03100	0.1695:0.3939:0.2619:0.1747	.	80	P19474	RO52_HUMAN	I	80	ENSP00000254436:S80I;ENSP00000444045:S80I	ENSP00000254436:S80I	S	-	2	0	TRIM21	4367977	0.000000	0.05858	0.004000	0.12327	0.274000	0.26718	-0.277000	0.08502	-0.300000	0.08895	0.561000	0.74099	AGC		PASS	0.567	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		61	73	61	73	---	---	---	---
OR51D1	390038	broad.mit.edu	37	11	4661500	4661500	+	Silent	SNP	T	T	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr11:4661500T>A	ENST00000357605.2	+	1	556	c.480T>A	c.(478-480)tcT>tcA	p.S160S		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S160S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGACTATCTGCCCTGACCA	0.532																																						uc010qyk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(478-480)TCT>TCA		olfactory receptor, family 51, subfamily D,							224.0	194.0	204.0					11																	4661500		2201	4298	6499	SO:0001819	synonymous_variant	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661500T>A	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.480T>A	11.37:g.4661500T>A							p.S160S	NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	480	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	160			Helical; Name=4; (Potential).		B9EIK4	Silent	SNP	ENST00000357605.2	37	c.480T>A	CCDS31357.1																																																																																				PASS	0.532	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		113	127	113	127	---	---	---	---
OR51T1	401665	broad.mit.edu	37	11	4903252	4903252	+	Silent	SNP	C	C	G			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr11:4903252C>G	ENST00000322049.1	+	1	123	c.123C>G	c.(121-123)ctC>ctG	p.L41L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Silent_p.L68L			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L41L(1)|p.L68L(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATTGCCCTCTTGGGAAACA	0.473																																						uc010qyp.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(202-204)CTC>CTG		olfactory receptor, family 51, subfamily T,							200.0	171.0	181.0					11																	4903252		2201	4298	6499	SO:0001819	synonymous_variant	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903252C>G	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.123C>G	11.37:g.4903252C>G							p.L68L	NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	204	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	41			Helical; Name=1; (Potential).		Q6IFH9	Silent	SNP	ENST00000322049.1	37	c.204C>G																																																																																					PASS	0.473	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		92	142	92	142	---	---	---	---
OR52E4	390081	broad.mit.edu	37	11	5905792	5905792	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr11:5905792C>A	ENST00000316987.2	+	1	292	c.270C>A	c.(268-270)aaC>aaA	p.N90K		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N90K(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGGTTCAACCTCCAAGAGA	0.463																																						uc010qzs.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(268-270)AAC>AAA		olfactory receptor, family 52, subfamily E,							119.0	105.0	110.0					11																	5905792		2201	4296	6497	SO:0001583	missense	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5905792C>A	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.270C>A	11.37:g.5905792C>A	ENSP00000321426:p.Asn90Lys					TRIM5_uc001mbq.1_Intron	p.N90K	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	270	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	90			Extracellular (Potential).		Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	c.270C>A	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	C	1.086	-0.665413	0.03428	.	.	ENSG00000180974	ENST00000316987	T	0.02944	4.1	5.04	-7.76	0.01232	GPCR, rhodopsin-like superfamily (1);	0.532611	0.16988	N	0.191406	T	0.01489	0.0048	L	0.31752	0.955	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.39375	-0.9617	10	0.33940	T	0.23	.	1.6356	0.02741	0.1922:0.1339:0.1785:0.4954	.	90	Q8NGH9	O52E4_HUMAN	K	90	ENSP00000321426:N90K	ENSP00000321426:N90K	N	+	3	2	OR52E4	5862368	0.000000	0.05858	0.024000	0.17045	0.276000	0.26787	-4.181000	0.00279	-1.297000	0.02351	-4.208000	0.00009	AAC		PASS	0.463	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		112	114	112	114	---	---	---	---
CNGA4	1262	broad.mit.edu	37	11	6265355	6265355	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr11:6265355G>T	ENST00000379936.2	+	6	1559	c.1444G>T	c.(1444-1446)Gct>Tct	p.A482S		NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	482					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.A482S(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGACGTGAATGCTGAGGCAGC	0.567																																						uc001mco.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1444-1446)GCT>TCT		cyclic nucleotide gated channel alpha 4							110.0	92.0	98.0					11																	6265355		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6265355G>T	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.1444G>T	11.37:g.6265355G>T	ENSP00000369268:p.Ala482Ser					CNGA4_uc010raa.1_3'UTR|CNGA4_uc001mcn.2_3'UTR	p.A482S	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	6	1551	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	482			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000379936.2	37	c.1444G>T	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553918	0.45487	.	.	ENSG00000132259	ENST00000379936	D	0.97710	-4.5	5.28	5.28	0.74379	.	0.300825	0.33980	N	0.004364	D	0.95223	0.8451	L	0.55990	1.75	0.36060	D	0.841405	B	0.29612	0.251	B	0.29862	0.108	D	0.93759	0.7065	10	0.10111	T	0.7	.	12.7567	0.57339	0.0:0.0:0.836:0.164	.	482	Q8IV77	CNGA4_HUMAN	S	482	ENSP00000369268:A482S	ENSP00000369268:A482S	A	+	1	0	CNGA4	6221931	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	8.890000	0.92477	2.763000	0.94921	0.632000	0.83419	GCT		PASS	0.567	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		63	60	63	60	---	---	---	---
APBB1	322	broad.mit.edu	37	11	6423356	6423356	+	Silent	SNP	G	G	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr11:6423356G>C	ENST00000609360.1	-	8	1437	c.1338C>G	c.(1336-1338)ccC>ccG	p.P446P	APBB1_ENST00000608655.1_Silent_p.P226P|APBB1_ENST00000299402.6_Silent_p.P446P|APBB1_ENST00000608645.1_Silent_p.P187P|APBB1_ENST00000608704.1_Silent_p.P187P|APBB1_ENST00000530885.1_Silent_p.P226P|APBB1_ENST00000529519.1_5'UTR|APBB1_ENST00000608394.1_Silent_p.P187P|APBB1_ENST00000311051.3_Silent_p.P446P|APBB1_ENST00000609331.1_Silent_p.P211P|APBB1_ENST00000389906.2_Silent_p.P446P	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	446	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.P446P(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TGCTGATGATGGGTTGGGCGT	0.597																																					GBM(147;1810 2556 5672 39622)	uc001mdb.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(1336-1338)CCC>CCG		amyloid beta A4 precursor protein-binding,							138.0	108.0	118.0					11																	6423356		2201	4296	6497	SO:0001819	synonymous_variant	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6423356G>C	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1338C>G	11.37:g.6423356G>C						APBB1_uc001mcz.1_Silent_p.P67P|APBB1_uc001mdd.3_Silent_p.P226P|APBB1_uc001mda.2_5'UTR|APBB1_uc001mdc.1_Silent_p.P446P|APBB1_uc010rab.1_5'Flank|APBB1_uc010rac.1_5'Flank|APBB1_uc010rad.1_Silent_p.P67P|APBB1_uc010rae.1_Silent_p.P211P|APBB1_uc010raf.1_3'UTR|APBB1_uc009yfa.2_Silent_p.P187P|APBB1_uc009yey.2_Silent_p.P187P|APBB1_uc010rag.1_Silent_p.P187P|APBB1_uc009yfb.2_Silent_p.P187P|APBB1_uc001mde.2_Silent_p.P187P|APBB1_uc010rah.1_Silent_p.P187P	p.P446P	NM_001164	NP_001155	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	8	1438	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	446			PID 1.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Silent	SNP	ENST00000609360.1	37	c.1338C>G																																																																																					PASS	0.597	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		21	29	21	29	---	---	---	---
SLC17A6	57084	broad.mit.edu	37	11	22398990	22398990	+	Missense_Mutation	SNP	C	C	A	rs181306714		TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr11:22398990C>A	ENST00000263160.3	+	12	1890	c.1453C>A	c.(1453-1455)Cta>Ata	p.L485I		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	485					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.L485I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GATCGCTGCCCTAGTCCACTA	0.458																																						uc001mqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1453-1455)CTA>ATA		solute carrier family 17 (sodium-dependent							86.0	82.0	83.0					11																	22398990		2202	4300	6502	SO:0001583	missense	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22398990C>A	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1453C>A	11.37:g.22398990C>A	ENSP00000263160:p.Leu485Ile						p.L485I	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			12	1866	+			485			Helical; (Potential).		A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.1453C>A	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535067	0.27475	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.58506	0.33	5.98	3.81	0.43845	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.068771	0.64402	D	0.000014	T	0.38585	0.1046	L	0.28776	0.89	0.53005	D	0.999964	B	0.10296	0.003	B	0.16289	0.015	T	0.15435	-1.0437	10	0.06757	T	0.87	.	9.536	0.39222	0.0:0.7549:0.0:0.2451	.	485	Q9P2U8	VGLU2_HUMAN	I	485;373	ENSP00000263160:L485I	ENSP00000263160:L485I	L	+	1	2	SLC17A6	22355566	0.717000	0.27966	0.657000	0.29651	0.985000	0.73830	1.025000	0.30090	1.545000	0.49373	0.655000	0.94253	CTA		PASS	0.458	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		43	57	43	57	---	---	---	---
LRRC4C	57689	broad.mit.edu	37	11	40136857	40136857	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr11:40136857C>A	ENST00000278198.2	-	2	2949	c.986G>T	c.(985-987)cGg>cTg	p.R329L	LRRC4C_ENST00000528697.1_Missense_Mutation_p.R329L|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R329L|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R329L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	329	LRRCT.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.R329L(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AGTGTTACACCGGGCACAACA	0.502																																						uc001mxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(985-987)CGG>CTG		netrin-G1 ligand precursor							83.0	71.0	75.0					11																	40136857		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136857C>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.986G>T	11.37:g.40136857C>A	ENSP00000278198:p.Arg329Leu					LRRC4C_uc001mxc.1_Missense_Mutation_p.R325L|LRRC4C_uc001mxd.1_Missense_Mutation_p.R325L|LRRC4C_uc001mxb.1_Missense_Mutation_p.R325L	p.R329L	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2950	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	329			LRRCT.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.986G>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626638	0.66901	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.76	5.76	0.90799	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60881	0.2303	L	0.54323	1.7	0.80722	D	1	D	0.54772	0.968	P	0.51079	0.658	T	0.58521	-0.7622	10	0.41790	T	0.15	.	18.9619	0.92680	0.0:1.0:0.0:0.0	.	329	Q9HCJ2	LRC4C_HUMAN	L	329	ENSP00000278198:R329L;ENSP00000436976:R329L;ENSP00000437132:R329L;ENSP00000434761:R329L	ENSP00000278198:R329L	R	-	2	0	LRRC4C	40093433	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.757000	0.85209	2.732000	0.93576	0.655000	0.94253	CGG		PASS	0.502	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		30	50	30	50	---	---	---	---
OR5D14	219436	broad.mit.edu	37	11	55563899	55563899	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr11:55563899C>A	ENST00000335605.1	+	1	868	c.868C>A	c.(868-870)Ctg>Atg	p.L290M		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	290			L -> P (in dbSNP:rs297055).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L290M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GCTGAACCCTCTGATCTACAG	0.413																																						uc010rim.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(868-870)CTG>ATG		olfactory receptor, family 5, subfamily D,							56.0	55.0	55.0					11																	55563899		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563899C>A	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.868C>A	11.37:g.55563899C>A	ENSP00000334456:p.Leu290Met						p.L290M	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	868	+		all_epithelial(135;0.196)	290			Helical; Name=7; (Potential).		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.868C>A	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	c	14.33	2.502815	0.44558	.	.	ENSG00000186113	ENST00000335605	T	0.45668	0.89	5.08	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35179	N	0.003382	T	0.43344	0.1243	M	0.63208	1.945	0.09310	N	1	D	0.56968	0.978	P	0.48304	0.573	T	0.44982	-0.9292	10	0.62326	D	0.03	-13.9526	6.9981	0.24795	0.1738:0.7375:0.0:0.0888	.	290	Q8NGL3	OR5DE_HUMAN	M	290	ENSP00000334456:L290M	ENSP00000334456:L290M	L	+	1	2	OR5D14	55320475	0.000000	0.05858	0.999000	0.59377	0.994000	0.84299	-3.178000	0.00570	2.363000	0.80096	0.643000	0.83706	CTG		PASS	0.413	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		35	62	35	62	---	---	---	---
OR5T2	219464	broad.mit.edu	37	11	55999874	55999874	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr11:55999874G>A	ENST00000313264.4	-	1	863	c.788C>T	c.(787-789)gCc>gTc	p.A263V		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A263V(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CTTCAGAATGGCCAACAGAAT	0.443																																						uc010rjc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(787-789)GCC>GTC		olfactory receptor, family 5, subfamily T,							131.0	122.0	125.0					11																	55999874		2201	4296	6497	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55999874G>A	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.788C>T	11.37:g.55999874G>A	ENSP00000323688:p.Ala263Val						p.A263V	NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN			1	788	-	Esophageal squamous(21;0.00448)		263			Cytoplasmic (Potential).		B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.788C>T	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	G	9.835	1.189501	0.21954	.	.	ENSG00000181718	ENST00000313264	T	0.00227	8.5	5.07	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.572202	0.14204	N	0.334481	T	0.00300	0.0009	M	0.63843	1.955	0.09310	N	1	B	0.22983	0.078	B	0.36766	0.232	T	0.31447	-0.9943	10	0.72032	D	0.01	.	12.6258	0.56628	0.0818:0.0:0.9182:0.0	.	263	Q8NGG2	OR5T2_HUMAN	V	263	ENSP00000323688:A263V	ENSP00000323688:A263V	A	-	2	0	OR5T2	55756450	0.000000	0.05858	0.015000	0.15790	0.017000	0.09413	0.736000	0.26130	1.281000	0.44480	0.478000	0.44815	GCC		PASS	0.443	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		108	156	108	156	---	---	---	---
MS4A8	83661	broad.mit.edu	37	11	60482867	60482867	+	Nonsense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr11:60482867G>T	ENST00000300226.2	+	7	936	c.733G>T	c.(733-735)Gag>Tag	p.E245*		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	245						integral component of membrane (GO:0016021)		p.E245*(1)									TTATTCCAGTGAGATCCAAGC	0.483																																						uc001npv.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(733-735)GAG>TAG		membrane-spanning 4-domains, subfamily A, member							111.0	103.0	106.0					11																	60482867		2203	4300	6503	SO:0001587	stop_gained	83661					integral to membrane	receptor activity	g.chr11:60482867G>T	AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"""membrane-spanning 4-domains, subfamily A, member 8B"""	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.733G>T	11.37:g.60482867G>T	ENSP00000300226:p.Glu245*						p.E245*	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN			7	936	+			245			Cytoplasmic (Potential).		Q8TCA5	Nonsense_Mutation	SNP	ENST00000300226.2	37	c.733G>T	CCDS7990.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324887	0.41197	.	.	ENSG00000166959	ENST00000300226	.	.	.	3.63	1.71	0.24356	.	9.328120	0.00397	N	0.000041	.	.	.	.	.	.	0.27888	N	0.93943	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	1.9777	4.9839	0.14180	0.1214:0.2174:0.6612:0.0	.	.	.	.	X	245	.	ENSP00000300226:E245X	E	+	1	0	MS4A8B	60239443	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.787000	0.04618	0.345000	0.23873	0.561000	0.74099	GAG		PASS	0.483	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1			14	39	14	39	---	---	---	---
VWCE	220001	broad.mit.edu	37	11	61042035	61042035	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr11:61042035C>G	ENST00000335613.5	-	12	1903	c.1517G>C	c.(1516-1518)cGg>cCg	p.R506P	VWCE_ENST00000535710.1_5'Flank	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	506	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R506P(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGCGTACCACCGGCCGTGGAA	0.562																																						uc001nra.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1516-1518)CGG>CCG		von Willebrand factor C and EGF domains							186.0	120.0	142.0					11																	61042035		2203	4299	6502	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61042035C>G	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1517G>C	11.37:g.61042035C>G	ENSP00000334186:p.Arg506Pro					VWCE_uc001nrb.2_RNA	p.R506P	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN			12	1796	-			506			VWFC 3.		A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.1517G>C	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555609	0.65425	.	.	ENSG00000167992	ENST00000335613	T	0.72725	-0.68	4.92	-0.516	0.11950	von Willebrand factor, type C (3);	0.358632	0.20511	N	0.090896	T	0.76506	0.3997	M	0.79475	2.455	0.80722	D	1	D	0.54397	0.966	P	0.57009	0.811	T	0.75536	-0.3283	10	0.66056	D	0.02	.	8.1192	0.30961	0.0:0.4224:0.0:0.5776	.	506	Q96DN2	VWCE_HUMAN	P	506	ENSP00000334186:R506P	ENSP00000334186:R506P	R	-	2	0	VWCE	60798611	0.000000	0.05858	0.953000	0.39169	0.957000	0.61999	-1.689000	0.01923	0.094000	0.17404	0.549000	0.68633	CGG		PASS	0.562	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		35	79	35	79	---	---	---	---
MAP4K2	5871	broad.mit.edu	37	11	64568595	64568595	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr11:64568595C>A	ENST00000294066.2	-	8	609	c.518G>T	c.(517-519)gGg>gTg	p.G173V	MAP4K2_ENST00000377350.3_Missense_Mutation_p.G173V|MAP4K2_ENST00000468062.1_5'UTR	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	173	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.G173V(2)		cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GTAGGGAGTCCCAATGAAAGA	0.642																																						uc001obh.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(517-519)GGG>GTG		mitogen-activated protein kinase kinase kinase							44.0	48.0	47.0					11																	64568595		2201	4296	6497	SO:0001583	missense	5871				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64568595C>A	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.518G>T	11.37:g.64568595C>A	ENSP00000294066:p.Gly173Val					MAP4K2_uc001obi.2_Missense_Mutation_p.G173V	p.G173V	NM_004579	NP_004570	Q12851	M4K2_HUMAN			8	610	-			173			Protein kinase.		Q86VU3	Missense_Mutation	SNP	ENST00000294066.2	37	c.518G>T	CCDS8082.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191047	0.58017	.	.	ENSG00000168067	ENST00000294066;ENST00000377350;ENST00000439069	T;T;T	0.39229	1.09;1.09;1.09	4.57	3.64	0.41730	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.060824	0.64402	N	0.000004	T	0.69584	0.3127	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77183	-0.2681	10	0.87932	D	0	.	12.68	0.56916	0.0:0.8322:0.1677:0.0	.	173;173	Q86VU3;Q12851	.;M4K2_HUMAN	V	173	ENSP00000294066:G173V;ENSP00000366567:G173V;ENSP00000403563:G173V	ENSP00000294066:G173V	G	-	2	0	MAP4K2	64325171	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	7.266000	0.78452	1.288000	0.44600	-0.311000	0.09066	GGG		PASS	0.642	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	NM_004579		41	68	41	68	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65266582	65266582	+	lincRNA	SNP	A	A	G			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr11:65266582A>G	ENST00000534336.1	+	0	1350				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GAAACCGCAGATAAGTTTTTT	0.438																																						uc010roh.1																			0					0								Homo sapiens clone alpha1 mRNA sequence.							60.0	65.0	63.0					11																	65266582		874	1988	2862			378938							g.chr11:65266582A>G	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65266582A>G						MALAT1_uc001odz.2_5'Flank		NR_002819						1		+									RNA	SNP	ENST00000534336.1	37	c.1350A>G																																																																																					PASS	0.438	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		69	53	69	53	---	---	---	---
C11orf72	100505621	broad.mit.edu	37	11	67372426	67372426	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr11:67372426G>T	ENST00000333139.3	-	3	355	c.115C>A	c.(115-117)Ctg>Atg	p.L39M	C11orf72_ENST00000446232.1_Missense_Mutation_p.L39M|NDUFV1_ENST00000415352.2_5'Flank|NDUFV1_ENST00000322776.6_5'Flank|NDUFV1_ENST00000529927.1_5'Flank|RP11-655M14.12_ENST00000533876.1_RNA|NDUFV1_ENST00000532303.1_5'Flank			Q8NBR9	CK072_HUMAN	chromosome 11 open reading frame 72	39								p.L39M(1)		central_nervous_system(1)|lung(2)|stomach(1)	4						GATGACATCAGAGTGGATCTC	0.562																																						uc001omi.1																			1	Substitution - Missense(1)		lung(1)								c.(115-117)CTG>ATG		RecName: Full=Uncharacterized protein C11orf72;							56.0	54.0	55.0					11																	67372426		2200	4295	6495	SO:0001583	missense	0							g.chr11:67372426G>T	AK075315		11q13.2	2011-05-24			ENSG00000184224	ENSG00000184224			26915	protein-coding gene	gene with protein product							Standard			Approved	FLJ90834	uc001omi.1	Q8NBR9	OTTHUMG00000156309	ENST00000333139.3:c.115C>A	11.37:g.67372426G>T	ENSP00000328640:p.Leu39Met					NDUFV1_uc001omj.2_5'Flank|NDUFV1_uc010rpv.1_5'Flank|NDUFV1_uc001oml.2_5'Flank|NDUFV1_uc001omk.3_5'Flank	p.L39M							2	271	-									Missense_Mutation	SNP	ENST00000333139.3	37	c.115C>A		.	.	.	.	.	.	.	.	.	.	g	3.043	-0.197130	0.06259	.	.	ENSG00000184224	ENST00000333139;ENST00000446232	T;T	0.57273	0.41;0.41	3.26	-0.964	0.10326	.	.	.	.	.	T	0.44808	0.1311	.	.	.	.	.	.	B	0.25105	0.118	B	0.37047	0.24	T	0.53697	-0.8402	7	0.87932	D	0	.	4.1555	0.10258	0.2316:0.3786:0.3898:0.0	.	39	Q8NBR9	CK072_HUMAN	M	39	ENSP00000328640:L39M;ENSP00000416700:L39M	ENSP00000328640:L39M	L	-	1	2	C11orf72	67129002	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	0.511000	0.22739	-0.173000	0.10761	-0.360000	0.07572	CTG		PASS	0.562	C11orf72-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343852.2	NM_173578		13	20	13	20	---	---	---	---
PDE2A	5138	broad.mit.edu	37	11	72288475	72288475	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr11:72288475C>T	ENST00000334456.5	-	31	3024	c.2779G>A	c.(2779-2781)Ggc>Agc	p.G927S	PDE2A_ENST00000418754.2_Missense_Mutation_p.G812S|PDE2A_ENST00000540345.1_Missense_Mutation_p.G918S|PDE2A_ENST00000376450.3_Missense_Mutation_p.G671S|PDE2A_ENST00000544570.1_Missense_Mutation_p.G920S|PDE2A_ENST00000444035.2_Missense_Mutation_p.G918S	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	927					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.G927S(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	GCCCTAGTGCCATCCAGATCA	0.612																																						uc010rrc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(2779-2781)GGC>AGC		phosphodiesterase 2A isoform 1	Sildenafil(DB00203)|Sulindac(DB00605)						105.0	87.0	93.0					11																	72288475		2200	4293	6493	SO:0001583	missense	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72288475C>T	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2779G>A	11.37:g.72288475C>T	ENSP00000334910:p.Gly927Ser					PDE2A_uc001oso.2_Missense_Mutation_p.G906S|PDE2A_uc010rra.1_Missense_Mutation_p.G920S|PDE2A_uc001osn.2_Missense_Mutation_p.G671S|PDE2A_uc010rrb.1_Missense_Mutation_p.G918S|PDE2A_uc010rrd.1_Missense_Mutation_p.G812S	p.G927S	NM_002599	NP_002590	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		31	3022	-			927					B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	c.2779G>A	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359833	0.61403	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000544570;ENST00000418754;ENST00000540345	T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.13	3.24	0.37175	.	0.414201	0.24426	N	0.038639	T	0.52435	0.1734	N	0.14661	0.345	0.20638	N	0.999872	B;B;B;B;B;B	0.20052	0.01;0.0;0.0;0.001;0.0;0.041	B;B;B;B;B;B	0.19391	0.005;0.0;0.0;0.001;0.001;0.025	T	0.32640	-0.9899	10	0.20046	T	0.44	.	6.9948	0.24777	0.0:0.7327:0.1751:0.0922	.	812;927;918;920;927;671	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	S	927;671;918;920;812;918	ENSP00000334910:G927S;ENSP00000365633:G671S;ENSP00000411657:G918S;ENSP00000442256:G920S;ENSP00000410310:G812S;ENSP00000446399:G918S	ENSP00000334910:G927S	G	-	1	0	PDE2A	71966123	0.005000	0.15991	0.026000	0.17262	0.979000	0.70002	0.607000	0.24209	0.845000	0.35118	0.655000	0.94253	GGC		PASS	0.612	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		50	56	50	56	---	---	---	---
ARRB1	408	broad.mit.edu	37	11	74977313	74977313	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr11:74977313T>A	ENST00000420843.2	-	16	1248	c.1151A>T	c.(1150-1152)gAc>gTc	p.D384V	ARRB1_ENST00000393505.4_Missense_Mutation_p.D384V|CTD-2562J17.9_ENST00000529304.1_RNA|ARRB1_ENST00000360025.3_Missense_Mutation_p.D376V	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	384	Interaction with TRAF6.				activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.D376V(1)		breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						TACAATGTCGTCATCACTGGT	0.527																																						uc001owe.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1150-1152)GAC>GTC		arrestin beta 1 isoform A							149.0	115.0	126.0					11																	74977313		2200	4293	6493	SO:0001583	missense	408				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:74977313T>A	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.1151A>T	11.37:g.74977313T>A	ENSP00000409581:p.Asp384Val					ARRB1_uc001owf.1_Missense_Mutation_p.D376V	p.D384V	NM_004041	NP_004032	P49407	ARRB1_HUMAN			16	1373	-			384			Interaction with TRAF6.		B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	ENST00000420843.2	37	c.1151A>T	CCDS44684.1	.	.	.	.	.	.	.	.	.	.	T	12.11	1.839733	0.32513	.	.	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025;ENST00000532447	T;T;T	0.15256	2.45;2.44;2.45	4.97	4.97	0.65823	Immunoglobulin E-set (1);Arrestin, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.35537	0.0935	M	0.78049	2.395	0.80722	D	1	D;P	0.55605	0.972;0.952	P;P	0.55055	0.767;0.703	T	0.24368	-1.0162	10	0.87932	D	0	-29.7478	12.605	0.56519	0.0:0.0:0.0:1.0	.	376;384	P49407-2;P49407	.;ARRB1_HUMAN	V	384;384;376;183	ENSP00000409581:D384V;ENSP00000377141:D384V;ENSP00000353124:D376V	ENSP00000353124:D376V	D	-	2	0	ARRB1	74654961	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.557000	0.67313	1.876000	0.54355	0.460000	0.39030	GAC		PASS	0.527	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041		45	44	45	44	---	---	---	---
MYO7A	4647	broad.mit.edu	37	11	76924036	76924036	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr11:76924036G>A	ENST00000409709.3	+	47	6666	c.6394G>A	c.(6394-6396)Gcc>Acc	p.A2132T	MYO7A_ENST00000458637.2_Missense_Mutation_p.A2092T|MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Missense_Mutation_p.A2083T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2132	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.A2132T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTCCTAATTGCCATCAACAA	0.517																																						uc001oyb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(6394-6396)GCC>ACC		myosin VIIA isoform 1							77.0	67.0	70.0					11																	76924036		1944	4134	6078	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76924036G>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.6394G>A	11.37:g.76924036G>A	ENSP00000386331:p.Ala2132Thr					MYO7A_uc001oyc.2_Missense_Mutation_p.A2092T|MYO7A_uc001oye.2_RNA	p.A2132T	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			47	6666	+			2132			FERM 2.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.6394G>A	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	34	5.328655	0.95733	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	4.74	4.74	0.60224	FERM domain (1);Pleckstrin homology-type (1);	0.106321	0.64402	D	0.000005	D	0.90345	0.6979	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.92592	0.6084	10	0.87932	D	0	.	18.1082	0.89527	0.0:0.0:1.0:0.0	.	2092;2132	F8VUN5;Q13402	.;MYO7A_HUMAN	T	2132;2092;2083;1305;2131;2101;2008;1274	ENSP00000386331:A2132T;ENSP00000392185:A2092T;ENSP00000386635:A2083T;ENSP00000417017:A1274T	ENSP00000345075:A2008T	A	+	1	0	MYO7A	76601684	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.420000	0.97426	2.333000	0.79357	0.585000	0.79938	GCC		PASS	0.517	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		3	8	3	8	---	---	---	---
FAM76B	143684	broad.mit.edu	37	11	95522558	95522558	+	Missense_Mutation	SNP	T	T	G			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr11:95522558T>G	ENST00000358780.5	-	1	397	c.85A>C	c.(85-87)Aag>Cag	p.K29Q	CEP57_ENST00000325486.5_5'Flank|CEP57_ENST00000325542.5_5'Flank|CEP57_ENST00000538658.1_5'Flank|CEP57_ENST00000537677.1_5'Flank|FAM76B_ENST00000536839.1_Missense_Mutation_p.K29Q|FAM76B_ENST00000538047.1_5'Flank	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	29						nuclear membrane (GO:0031965)|nucleus (GO:0005634)		p.K29Q(1)		breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCACGGACCTTGCAGAGCTGC	0.701																																						uc001pfn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(85-87)AAG>CAG		hypothetical protein LOC143684							16.0	22.0	20.0					11																	95522558		1926	4148	6074	SO:0001583	missense	143684							g.chr11:95522558T>G		CCDS41700.1	11q21	2008-02-05			ENSG00000077458	ENSG00000077458			28492	protein-coding gene	gene with protein product						12477932	Standard	NM_144664		Approved	MGC33371	uc001pfn.2	Q5HYJ3	OTTHUMG00000167739	ENST00000358780.5:c.85A>C	11.37:g.95522558T>G	ENSP00000351631:p.Lys29Gln					CEP57_uc001pfo.1_5'Flank|CEP57_uc010ruh.1_5'Flank|CEP57_uc010rui.1_5'Flank|CEP57_uc009ywn.1_5'Flank|CEP57_uc001pfp.1_5'Flank|CEP57_uc001pfq.1_5'Flank|CEP57_uc001pfr.1_5'Flank|FAM76B_uc001pfm.2_RNA	p.K29Q	NM_144664	NP_653265	Q5HYJ3	FA76B_HUMAN			1	397	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	29					Q6PIU3|Q8TC53	Missense_Mutation	SNP	ENST00000358780.5	37	c.85A>C	CCDS41700.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.431284	0.83776	.	.	ENSG00000077458	ENST00000358780;ENST00000536839	.	.	.	4.95	3.83	0.44106	.	0.045336	0.85682	D	0.000000	T	0.58524	0.2128	L	0.54323	1.7	0.80722	D	1	P	0.46277	0.875	P	0.49528	0.614	T	0.60454	-0.7260	9	0.49607	T	0.09	-0.2429	9.9805	0.41811	0.0:0.0804:0.0:0.9196	.	29	Q5HYJ3	FA76B_HUMAN	Q	29	.	ENSP00000351631:K29Q	K	-	1	0	FAM76B	95162206	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.779000	0.68948	1.853000	0.53794	0.459000	0.35465	AAG		PASS	0.701	FAM76B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395969.1	NM_144664		5	13	5	13	---	---	---	---
CNTN5	53942	broad.mit.edu	37	11	99715950	99715950	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr11:99715950C>A	ENST00000524871.1	+	6	823	c.533C>A	c.(532-534)aCt>aAt	p.T178N	CNTN5_ENST00000279463.3_Missense_Mutation_p.T178N|CNTN5_ENST00000418526.2_Missense_Mutation_p.T104N|CNTN5_ENST00000528682.1_Missense_Mutation_p.T178N|CNTN5_ENST00000527185.1_Missense_Mutation_p.T178N	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	178	Ig-like C2-type 1.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.T178N(4)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GCAACCAACACTGTGGGGAGT	0.348																																						uc001pga.2																			4	Substitution - Missense(4)		lung(4)	skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(532-534)ACT>AAT		contactin 5 isoform long							138.0	132.0	134.0					11																	99715950		1833	4105	5938	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99715950C>A	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.533C>A	11.37:g.99715950C>A	ENSP00000435637:p.Thr178Asn					CNTN5_uc009ywv.1_Missense_Mutation_p.T178N|CNTN5_uc001pfz.2_Missense_Mutation_p.T178N|CNTN5_uc001pgb.2_Missense_Mutation_p.T104N	p.T178N	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	6	872	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	178			Ig-like C2-type 1.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.533C>A	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	1.271	-0.612939	0.03690	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.8	2.81	0.32909	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.646823	0.16183	N	0.225730	T	0.49029	0.1533	N	0.21324	0.655	0.09310	N	1	B;B;B	0.18968	0.025;0.02;0.032	B;B;B	0.24394	0.023;0.014;0.053	T	0.33523	-0.9865	10	0.27082	T	0.32	.	7.944	0.29976	0.0:0.6138:0.2575:0.1287	.	178;104;178	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	N	178;178;178;104;178	ENSP00000433575:T178N;ENSP00000436185:T178N;ENSP00000435637:T178N;ENSP00000393229:T104N;ENSP00000279463:T178N	ENSP00000279463:T178N	T	+	2	0	CNTN5	99221160	0.675000	0.27558	0.423000	0.26634	0.257000	0.26127	1.221000	0.32503	0.756000	0.33013	-0.182000	0.12963	ACT		PASS	0.348	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		88	102	88	102	---	---	---	---
CNTN5	53942	broad.mit.edu	37	11	100169925	100169925	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr11:100169925G>T	ENST00000524871.1	+	20	2707	c.2417G>T	c.(2416-2418)gGc>gTc	p.G806V	CNTN5_ENST00000279463.3_Missense_Mutation_p.G806V|CNTN5_ENST00000418526.2_Missense_Mutation_p.G732V|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.G806V|CNTN5_ENST00000527185.1_Missense_Mutation_p.G806V	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	806	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.G806V(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AATGGGGAAGGCTTCGGCTAT	0.363																																						uc001pga.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(2416-2418)GGC>GTC		contactin 5 isoform long							40.0	38.0	38.0					11																	100169925		1819	4073	5892	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100169925G>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2417G>T	11.37:g.100169925G>T	ENSP00000435637:p.Gly806Val					CNTN5_uc001pfz.2_Missense_Mutation_p.G806V|CNTN5_uc001pgb.2_Missense_Mutation_p.G732V|CNTN5_uc010ruk.1_Missense_Mutation_p.G77V	p.G806V	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	20	2756	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	806			Fibronectin type-III 2.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.2417G>T	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633920	0.87660	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.62	5.62	0.85841	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71341	0.3328	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74253	-0.3725	10	0.87932	D	0	.	18.6488	0.91421	0.0:0.0:1.0:0.0	.	732;806	O94779-2;O94779	.;CNTN5_HUMAN	V	806;806;806;732;806	ENSP00000433575:G806V;ENSP00000436185:G806V;ENSP00000435637:G806V;ENSP00000393229:G732V;ENSP00000279463:G806V	ENSP00000279463:G806V	G	+	2	0	CNTN5	99675135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.725000	0.98778	2.660000	0.90430	0.650000	0.86243	GGC		PASS	0.363	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		24	28	24	28	---	---	---	---
MSANTD4	84437	broad.mit.edu	37	11	105880813	105880813	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr11:105880813T>C	ENST00000301919.4	-	3	1902	c.487A>G	c.(487-489)Atg>Gtg	p.M163V	MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	163						nucleus (GO:0005634)		p.M163V(1)									GATGACAACATTTCTTCCTCC	0.368																																						uc001piy.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(487-489)ATG>GTG		hypothetical protein LOC84437							82.0	86.0	84.0					11																	105880813		2201	4299	6500	SO:0001583	missense	84437					nucleus		g.chr11:105880813T>C	AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.487A>G	11.37:g.105880813T>C	ENSP00000304713:p.Met163Val					KIAA1826_uc001piz.2_Missense_Mutation_p.M163V	p.M163V	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)	3	660	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	163					Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	ENST00000301919.4	37	c.487A>G	CCDS31663.1	.	.	.	.	.	.	.	.	.	.	T	9.457	1.092166	0.20471	.	.	ENSG00000170903	ENST00000301919;ENST00000530788	.	.	.	5.78	5.78	0.91487	.	0.339785	0.37761	N	0.001954	T	0.46464	0.1394	L	0.44542	1.39	0.30109	N	0.806777	B	0.06786	0.001	B	0.06405	0.002	T	0.41052	-0.9530	9	0.26408	T	0.33	-15.8023	16.1035	0.81203	0.0:0.0:0.0:1.0	.	163	Q8NCY6	K1826_HUMAN	V	163	.	ENSP00000304713:M163V	M	-	1	0	KIAA1826	105386023	1.000000	0.71417	0.995000	0.50966	0.912000	0.54170	3.176000	0.50863	2.207000	0.71202	0.402000	0.26972	ATG		PASS	0.368	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388619.1	NM_032424		68	81	68	81	---	---	---	---
NPAT	4863	broad.mit.edu	37	11	108044245	108044245	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr11:108044245G>T	ENST00000278612.8	-	13	1571	c.1466C>A	c.(1465-1467)tCt>tAt	p.S489Y	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	489					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S489Y(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGAAGACAAAGAGTTCTTTTC	0.373																																						uc001pjz.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1465-1467)TCT>TAT		nuclear protein,  ataxia-telangiectasia locus							168.0	159.0	162.0					11																	108044245		1869	4095	5964	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108044245G>T	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.1466C>A	11.37:g.108044245G>T	ENSP00000278612:p.Ser489Tyr					NPAT_uc001pka.2_Missense_Mutation_p.S284Y	p.S489Y	NM_002519	NP_002510	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	13	1568	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	489					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.1466C>A	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	G	8.009	0.757127	0.15846	.	.	ENSG00000149308	ENST00000278612	T	0.30981	1.51	5.61	3.71	0.42584	.	0.341096	0.27437	N	0.019371	T	0.47691	0.1459	M	0.67953	2.075	0.09310	N	1	D;D	0.63880	0.993;0.993	D;D	0.63113	0.911;0.911	T	0.35475	-0.9787	10	0.66056	D	0.02	-1.3188	9.7362	0.40390	0.074:0.1402:0.7859:0.0	.	489;489	B9EG70;Q14207	.;NPAT_HUMAN	Y	489	ENSP00000278612:S489Y	ENSP00000278612:S489Y	S	-	2	0	NPAT	107549455	0.560000	0.26570	0.023000	0.16930	0.022000	0.10575	4.653000	0.61462	0.717000	0.32145	-0.253000	0.11424	TCT		PASS	0.373	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		137	187	137	187	---	---	---	---
ERC1	23085	broad.mit.edu	37	12	1137525	1137526	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr12:1137525_1137526GG>TT	ENST00000397203.2	+	2	862_863	c.456_457GG>TT	c.(454-459)atGGat>atTTat	p.152_153MD>IY	ERC1_ENST00000355446.5_Missense_Mutation_p.152_153MD>IY|ERC1_ENST00000546231.2_Missense_Mutation_p.152_153MD>IY|ERC1_ENST00000589028.1_Missense_Mutation_p.152_153MD>IY|ERC1_ENST00000360905.4_Missense_Mutation_p.152_153MD>IY|ERC1_ENST00000543086.3_Missense_Mutation_p.152_153MD>IY			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	152					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)	p.D153Y(1)|p.M152I(1)|p.M152_D153>IY(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ACACAATCATGGATCTGCAGAC	0.45																																						uc001qjb.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(2)|lung(2)|breast(1)	5						c.(454-456)ATG>ATT|c.(457-459)GAT>TAT		RAB6-interacting protein 2 isoform epsilon																																				SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1137525G>T|g.chr12:1137526G>T	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	Exception_encountered	12.37:g.1137525_1137526delinsTT	ENSP00000380386:p.M152_D153delinsIY					ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.M152I|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.M152I|ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.D153Y|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.D153Y	p.M152I|p.D153Y	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		2	697|698	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		152|153			Potential.		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.456G>T|c.457G>T	CCDS8508.1																																																																																				PASS	0.450	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		66	90|89	66	89	---	---	---	---
DPPA3	359787	broad.mit.edu	37	12	7868830	7868830	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr12:7868830G>T	ENST00000345088.2	+	3	481	c.364G>T	c.(364-366)Gtt>Ttt	p.V122F		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	122					chromatin modification (GO:0016568)|embryonic cleavage (GO:0040016)|negative regulation of DNA demethylation (GO:1901536)|protection of DNA demethylation of female pronucleus (GO:0044726)|regulation of genetic imprinting (GO:2000653)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.V122F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		GCCTAAGGGAGTTAAGGTAAG	0.303																																						uc001qtf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(364-366)GTT>TTT		stella							47.0	52.0	50.0					12																	7868830		2203	4300	6503	SO:0001583	missense	359787					cytoplasm|nucleus		g.chr12:7868830G>T	AY317075	CCDS8582.1	12p13.31	2012-10-02			ENSG00000187569	ENSG00000187569			19199	protein-coding gene	gene with protein product		608408					Standard	NM_199286		Approved	Stella	uc001qtf.3	Q6W0C5	OTTHUMG00000168434	ENST00000345088.2:c.364G>T	12.37:g.7868830G>T	ENSP00000339250:p.Val122Phe						p.V122F	NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN		Kidney(36;0.0887)	3	442	+			122					Q0P5U3|Q6JZS6	Missense_Mutation	SNP	ENST00000345088.2	37	c.364G>T	CCDS8582.1	.	.	.	.	.	.	.	.	.	.	G	2.464	-0.323496	0.05350	.	.	ENSG00000187569	ENST00000345088	T	0.45668	0.89	2.12	-2.55	0.06288	.	.	.	.	.	T	0.21509	0.0518	N	0.19112	0.55	0.09310	N	1	B	0.30193	0.272	B	0.35353	0.201	T	0.30327	-0.9982	9	0.12430	T	0.62	-0.6345	2.6283	0.04936	0.3484:0.0:0.44:0.2116	.	122	Q6W0C5	DPPA3_HUMAN	F	122	ENSP00000339250:V122F	ENSP00000339250:V122F	V	+	1	0	DPPA3	7760097	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.606000	0.05654	-0.651000	0.05415	0.436000	0.28706	GTT		PASS	0.303	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399718.1	NM_199286		7	18	7	18	---	---	---	---
KLRB1	3820	broad.mit.edu	37	12	9750731	9750731	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr12:9750731G>T	ENST00000229402.3	-	5	487	c.441C>A	c.(439-441)gaC>gaA	p.D147E		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	147	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.D147E(1)		endometrium(2)|large_intestine(6)|lung(4)	12						GAATTGCTTTGTCACGTATCA	0.328																																						uc010sgt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(439-441)GAC>GAA		killer cell lectin-like receptor subfamily B,							49.0	45.0	46.0					12																	9750731		2202	4294	6496	SO:0001583	missense	3820				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:9750731G>T	U11276	CCDS8601.1	12p13	2014-05-22			ENSG00000111796	ENSG00000111796		"""Killer cell lectin-like receptors"", ""CD molecules"", ""C-type lectin domain containing"""	6373	protein-coding gene	gene with protein product		602890		NKR		8077657	Standard	NM_002258		Approved	CD161, NKR-P1, NKR-P1A, hNKR-P1A, CLEC5B	uc010sgt.2	Q12918	OTTHUMG00000168581	ENST00000229402.3:c.441C>A	12.37:g.9750731G>T	ENSP00000229402:p.Asp147Glu						p.D147E	NM_002258	NP_002249	Q12918	KLRB1_HUMAN			5	503	-			147			C-type lectin.|Extracellular (Potential).		Q24K24	Missense_Mutation	SNP	ENST00000229402.3	37	c.441C>A	CCDS8601.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.825447	0.00589	.	.	ENSG00000111796	ENST00000229402	T	0.35048	1.33	2.68	-5.35	0.02697	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	3.861890	0.00649	N	0.000560	T	0.07818	0.0196	N	0.00648	-1.295	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.26538	-1.0100	10	0.02654	T	1	4.9617	0.1519	0.00094	0.3613:0.1601:0.1771:0.3015	.	147	Q12918	KLRB1_HUMAN	E	147	ENSP00000229402:D147E	ENSP00000229402:D147E	D	-	3	2	KLRB1	9641998	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.355000	0.02612	-1.157000	0.02815	-0.345000	0.07892	GAC		PASS	0.328	KLRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400280.1	NM_002258		24	33	24	33	---	---	---	---
MGST1	4257	broad.mit.edu	37	12	16507203	16507203	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr12:16507203A>T	ENST00000396209.1	+	2	160	c.17A>T	c.(16-18)cAg>cTg	p.Q6L	MGST1_ENST00000396210.3_Missense_Mutation_p.Q6L|MGST1_ENST00000396207.1_Missense_Mutation_p.Q6L|MGST1_ENST00000540056.1_Missense_Mutation_p.Q6L|MGST1_ENST00000535309.1_Missense_Mutation_p.Q6L|MGST1_ENST00000010404.2_Missense_Mutation_p.Q6L	NM_145791.2	NP_665734.1	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	6					cellular response to lipid hydroperoxide (GO:0071449)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|Leydig cell differentiation (GO:0033327)|oxidation-reduction process (GO:0055114)|protein homotrimerization (GO:0070207)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	apical part of cell (GO:0045177)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	glutathione binding (GO:0043295)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)	p.Q6L(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	GACCTCACCCAGGTAATGGAT	0.323																																						uc001rdf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(16-18)CAG>CTG		microsomal glutathione S-transferase 1	Glutathione(DB00143)						78.0	75.0	76.0					12																	16507203		2203	4299	6502	SO:0001583	missense	4257				protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity	g.chr12:16507203A>T	U46494	CCDS8677.1, CCDS58209.1	12p12.3-p12.1	2012-06-21			ENSG00000008394	ENSG00000008394	2.5.1.18	"""Glutathione S-transferases / Microsomal"""	7061	protein-coding gene	gene with protein product		138330		GST12			Standard	NM_145792		Approved	MGST-I	uc031qgl.1	P10620	OTTHUMG00000168816	ENST00000396209.1:c.17A>T	12.37:g.16507203A>T	ENSP00000379512:p.Gln6Leu					MGST1_uc001rdg.2_Missense_Mutation_p.Q6L|MGST1_uc009zih.1_Intron|MGST1_uc001rdh.2_Missense_Mutation_p.Q6L|MGST1_uc001rdi.2_Missense_Mutation_p.Q6L	p.Q6L	NM_145792	NP_665735	P10620	MGST1_HUMAN			2	82	+		Hepatocellular(102;0.121)	6			Lumenal (By similarity).		A8K533|G5EA53	Missense_Mutation	SNP	ENST00000396209.1	37	c.17A>T	CCDS8677.1	.	.	.	.	.	.	.	.	.	.	A	1.541	-0.541770	0.04053	.	.	ENSG00000008394	ENST00000536371;ENST00000010404;ENST00000543076;ENST00000396210;ENST00000535309;ENST00000540056;ENST00000396209;ENST00000540126;ENST00000538885;ENST00000396207	.	.	.	4.55	3.37	0.38596	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.611365	0.16673	N	0.204286	T	0.22820	0.0551	N	0.16166	0.38	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20338	-1.0278	9	0.11182	T	0.66	-28.8681	10.013	0.41997	0.8303:0.1697:0.0:0.0	.	6	P10620	MGST1_HUMAN	L	6	.	ENSP00000010404:Q6L	Q	+	2	0	MGST1	16398470	0.070000	0.21116	0.002000	0.10522	0.004000	0.04260	3.647000	0.54403	0.742000	0.32697	0.460000	0.39030	CAG		PASS	0.323	MGST1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401189.1	NM_145791		35	54	35	54	---	---	---	---
CNTN1	1272	broad.mit.edu	37	12	41316152	41316152	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr12:41316152G>A	ENST00000551295.2	+	5	439	c.322G>A	c.(322-324)Gat>Aat	p.D108N	CNTN1_ENST00000348761.2_Missense_Mutation_p.D97N|CNTN1_ENST00000347616.1_Missense_Mutation_p.D108N|CNTN1_ENST00000360099.3_Missense_Mutation_p.D108N|CNTN1_ENST00000547849.1_Missense_Mutation_p.D108N|CNTN1_ENST00000547702.1_Missense_Mutation_p.D108N	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	108	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.D108N(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CAAACAGAAAGATGCTGGAAT	0.393																																						uc001rmm.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(322-324)GAT>AAT		contactin 1 isoform 1 precursor							135.0	120.0	125.0					12																	41316152		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41316152G>A	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.322G>A	12.37:g.41316152G>A	ENSP00000447006:p.Asp108Asn					CNTN1_uc009zjy.1_Missense_Mutation_p.D108N|CNTN1_uc001rmn.1_Missense_Mutation_p.D97N|CNTN1_uc001rmo.2_Missense_Mutation_p.D108N	p.D108N	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			5	435	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	108			Ig-like C2-type 1.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.322G>A	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	31	5.068572	0.93950	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1	5.65	5.65	0.86999	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.049773	0.85682	D	0.000000	T	0.81403	0.4815	M	0.91459	3.21	0.52501	D	0.999959	D;D;D	0.76494	0.965;0.996;0.999	P;D;D	0.73380	0.625;0.939;0.98	T	0.80781	-0.1229	10	0.33141	T	0.24	.	20.1002	0.97872	0.0:0.0:1.0:0.0	.	108;97;108	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	N	108;108;108;108;108;97	ENSP00000448004:D108N;ENSP00000447006:D108N;ENSP00000448653:D108N;ENSP00000325660:D108N;ENSP00000353213:D108N;ENSP00000261160:D97N	ENSP00000325660:D108N	D	+	1	0	CNTN1	39602419	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.737000	0.74816	2.833000	0.97629	0.585000	0.79938	GAT		PASS	0.393	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		66	87	66	87	---	---	---	---
COL2A1	1280	broad.mit.edu	37	12	48368603	48368603	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr12:48368603G>C	ENST00000380518.3	-	52	4093	c.3929C>G	c.(3928-3930)gCc>gGc	p.A1310G	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.A1241G	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1310	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.A1241G(1)|p.A1310G(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AACCTTCATGGCGTCCAAGGT	0.557																																						uc001rqu.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(3928-3930)GCC>GGC		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						114.0	108.0	110.0					12																	48368603		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48368603G>C	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.3929C>G	12.37:g.48368603G>C	ENSP00000369889:p.Ala1310Gly					COL2A1_uc001rqt.2_Missense_Mutation_p.A91G|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.A1241G	p.A1310G	NM_001844	NP_001835	P02458	CO2A1_HUMAN			52	4110	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	1310			Fibrillar collagen NC1.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.3929C>G	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108052	0.77096	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	T;T	0.75938	-0.98;-0.98	4.81	4.81	0.61882	Fibrillar collagen, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.89760	0.6808	M	0.93939	3.475	0.80722	D	1	D;D	0.69078	0.99;0.997	D;D	0.79108	0.971;0.992	D	0.92635	0.6119	10	0.87932	D	0	.	17.8364	0.88699	0.0:0.0:1.0:0.0	.	1241;1310	P02458-1;P02458	.;CO2A1_HUMAN	G	1310;1241;1241	ENSP00000369889:A1310G;ENSP00000338213:A1241G	ENSP00000338213:A1241G	A	-	2	0	COL2A1	46654870	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.807000	0.99171	2.384000	0.81235	0.561000	0.74099	GCC		PASS	0.557	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		86	99	86	99	---	---	---	---
TENC1	23371	broad.mit.edu	37	12	53454219	53454219	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr12:53454219G>A	ENST00000314250.6	+	19	2938	c.2648G>A	c.(2647-2649)gGc>gAc	p.G883D	TENC1_ENST00000451358.1_Missense_Mutation_p.G873D|TENC1_ENST00000379902.3_Missense_Mutation_p.G759D|TENC1_ENST00000314276.3_Missense_Mutation_p.G893D|TENC1_ENST00000549700.1_Missense_Mutation_p.G818D|TENC1_ENST00000546602.1_Missense_Mutation_p.G786D|TENC1_ENST00000552570.1_Missense_Mutation_p.G883D	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	883	Pro-rich.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.G893D(1)|p.G883D(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TGGAGGGAGGGCCCCAGTGGG	0.637																																						uc001sbp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(2647-2649)GGC>GAC		tensin like C1 domain containing phosphatase							50.0	44.0	46.0					12																	53454219		2203	4300	6503	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53454219G>A	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.2648G>A	12.37:g.53454219G>A	ENSP00000319684:p.Gly883Asp					TENC1_uc001sbl.2_Missense_Mutation_p.G759D|TENC1_uc001sbn.2_Missense_Mutation_p.G893D|TENC1_uc001sbq.2_Missense_Mutation_p.G281D|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Missense_Mutation_p.G378D|TENC1_uc001sbs.2_5'Flank	p.G883D	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN			19	2783	+			883			Pro-rich.		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.2648G>A	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093582	0.36952	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.94537	-3.42;-3.42;-3.41;-3.43;-3.45;-3.41;-3.44	4.69	3.76	0.43208	.	0.884064	0.10020	N	0.726081	D	0.89427	0.6712	N	0.24115	0.695	0.29299	N	0.868825	P;P;B;P	0.39250	0.665;0.665;0.082;0.527	B;B;B;B	0.41088	0.347;0.347;0.084;0.175	T	0.80788	-0.1226	10	0.11182	T	0.66	-8.403	10.7399	0.46147	0.0:0.1928:0.8072:0.0	.	883;786;883;893	Q63HR2-6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;TENC1_HUMAN;.	D	759;893;883;873;786;883;818	ENSP00000369232:G759D;ENSP00000319756:G893D;ENSP00000319684:G883D;ENSP00000393362:G873D;ENSP00000449363:G786D;ENSP00000447021:G883D;ENSP00000449361:G818D	ENSP00000319684:G883D	G	+	2	0	TENC1	51740486	0.064000	0.20934	0.999000	0.59377	0.987000	0.75469	1.945000	0.40273	1.289000	0.44618	0.462000	0.41574	GGC		PASS	0.637	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		42	44	42	44	---	---	---	---
PDE1B	5153	broad.mit.edu	37	12	54964082	54964082	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr12:54964082G>A	ENST00000243052.3	+	6	971	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	PDE1B_ENST00000538346.1_Missense_Mutation_p.A138T|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.A159T	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	179					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.A179T(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	AGATGACCATGCCCTGAGGAC	0.498																																						uc001sgd.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(535-537)GCC>ACC		phosphodiesterase 1B isoform 1							224.0	182.0	196.0					12																	54964082		2203	4300	6503	SO:0001583	missense	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54964082G>A	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.535G>A	12.37:g.54964082G>A	ENSP00000243052:p.Ala179Thr					PDE1B_uc010soz.1_Missense_Mutation_p.A42T|PDE1B_uc010spa.1_Missense_Mutation_p.A138T|PDE1B_uc001sgf.2_Missense_Mutation_p.A42T|PDE1B_uc001sge.2_Missense_Mutation_p.A159T|PDE1B_uc009znq.2_5'UTR	p.A179T	NM_000924	NP_000915	Q01064	PDE1B_HUMAN			6	701	+			179					Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.535G>A	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647355	0.87958	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.70749	-0.51;-0.49;-0.5	3.84	3.84	0.44239	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.064020	0.64402	D	0.000012	T	0.80502	0.4635	M	0.73962	2.25	0.80722	D	1	P;D	0.54207	0.931;0.965	P;P	0.59115	0.852;0.715	T	0.83336	-0.0010	10	0.72032	D	0.01	.	14.0587	0.64786	0.0:0.0:1.0:0.0	.	159;179	Q01064-2;Q01064	.;PDE1B_HUMAN	T	179;138;159	ENSP00000243052:A179T;ENSP00000442559:A138T;ENSP00000448519:A159T	ENSP00000243052:A179T	A	+	1	0	PDE1B	53250349	1.000000	0.71417	0.969000	0.41365	0.993000	0.82548	4.336000	0.59304	2.433000	0.82419	0.561000	0.74099	GCC		PASS	0.498	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			90	102	90	102	---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	82147808	82147808	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr12:82147808C>A	ENST00000549396.1	-	3	353	c.193G>T	c.(193-195)Gat>Tat	p.D65Y	PPFIA2_ENST00000549325.1_Missense_Mutation_p.D65Y|PPFIA2_ENST00000548586.1_Missense_Mutation_p.D65Y|PPFIA2_ENST00000550584.2_Missense_Mutation_p.D65Y|PPFIA2_ENST00000552948.1_Missense_Mutation_p.D65Y|PPFIA2_ENST00000333447.7_Missense_Mutation_p.D65Y	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	65					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.D65Y(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TAGATGACATCCTGAAGTCTT	0.488																																						uc001szo.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|pancreas(1)	6						c.(193-195)GAT>TAT		PTPRF interacting protein alpha 2							60.0	64.0	63.0					12																	82147808		1965	4143	6108	SO:0001583	missense	8499							g.chr12:82147808C>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.193G>T	12.37:g.82147808C>A	ENSP00000450337:p.Asp65Tyr					PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	p.D65Y	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			3	354	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.193G>T	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865990	0.91511	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000552948;ENST00000551442;ENST00000547623	T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.66436	0.2789	L	0.49126	1.545	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.66006	-0.6030	10	0.87932	D	0	.	20.3812	0.98933	0.0:1.0:0.0:0.0	.	65	O75334	LIPA2_HUMAN	Y	65;65;76;65;65;65;65;65	ENSP00000450337:D65Y;ENSP00000450298:D65Y;ENSP00000327416:D65Y;ENSP00000449338:D65Y;ENSP00000447868:D65Y;ENSP00000449469:D65Y;ENSP00000447918:D65Y	ENSP00000327416:D65Y	D	-	1	0	PPFIA2	80671939	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.821000	0.97095	0.650000	0.86243	GAT		PASS	0.488	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			26	21	26	21	---	---	---	---
UBE3B	89910	broad.mit.edu	37	12	109971309	109971309	+	Silent	SNP	C	C	T	rs369743781		TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr12:109971309C>T	ENST00000342494.3	+	27	3556	c.2961C>T	c.(2959-2961)ttC>ttT	p.F987F	UBE3B_ENST00000434735.2_Silent_p.F987F|UBE3B_ENST00000535089.1_Silent_p.F74F	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	987	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.F987F(1)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TCCTGGGATTCGCCTACCTCA	0.642																																						uc001top.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)	4						c.(2959-2961)TTC>TTT		ubiquitin protein ligase E3B		C	,	1,4405	2.1+/-5.4	0,1,2202	130.0	113.0	118.0		2961,2961	-1.6	1.0	12		118	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	UBE3B	NM_130466.2,NM_183415.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	987/1069,987/1069	109971309	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109971309C>T	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.2961C>T	12.37:g.109971309C>T						UBE3B_uc001toq.2_Silent_p.F987F|UBE3B_uc001tos.2_Silent_p.F414F|UBE3B_uc001tot.2_Silent_p.F105F|UBE3B_uc010sxp.1_Silent_p.F105F	p.F987F	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN			27	3564	+			987			HECT.		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Silent	SNP	ENST00000342494.3	37	c.2961C>T	CCDS9129.1																																																																																				PASS	0.642	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		16	140	16	140	---	---	---	---
TCTN1	79600	broad.mit.edu	37	12	111052162	111052162	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr12:111052162G>A	ENST00000551590.1	+	1	331	c.175G>A	c.(175-177)Gct>Act	p.A59T	TCTN1_ENST00000550703.2_Missense_Mutation_p.A59T|TCTN1_ENST00000397655.3_Missense_Mutation_p.A59T|TCTN1_ENST00000377654.3_5'UTR|TCTN1_ENST00000471804.2_Missense_Mutation_p.A59T|TCTN1_ENST00000397659.4_Missense_Mutation_p.A59T			Q2MV58	TECT1_HUMAN	tectonic family member 1	59					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)		p.A59T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						GACTCCCAGGGCTCCAGGGCC	0.687																																						uc009zvs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(175-177)GCT>ACT		tectonic family member 1 isoform 2							8.0	11.0	10.0					12																	111052162		1852	4050	5902	SO:0001583	missense	79600				multicellular organismal development	extracellular region		g.chr12:111052162G>A	AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.175G>A	12.37:g.111052162G>A	ENSP00000448735:p.Ala59Thr					TCTN1_uc010syb.1_Missense_Mutation_p.A59T|TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_5'UTR|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Missense_Mutation_p.A59T|TCTN1_uc001trn.3_Missense_Mutation_p.A59T|TCTN1_uc001tri.2_5'UTR|TCTN1_uc001trj.1_5'UTR|TCTN1_uc001trk.3_RNA	p.A59T	NM_001082537	NP_001076006	Q2MV58	TECT1_HUMAN			1	283	+			59					A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	ENST00000551590.1	37	c.175G>A	CCDS41835.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109834	0.56398	.	.	ENSG00000204852	ENST00000551590;ENST00000397655;ENST00000548095;ENST00000397659	T;T;T	0.77358	-1.08;-1.09;-1.08	5.26	-6.64	0.01801	.	0.486738	0.14951	U	0.288934	T	0.56366	0.1980	N	0.24115	0.695	0.21675	N	0.999596	B;B;B;B	0.13145	0.005;0.002;0.007;0.004	B;B;B;B	0.12156	0.003;0.002;0.007;0.005	T	0.39941	-0.9589	10	0.27082	T	0.32	-12.8983	10.189	0.43015	0.2288:0.5969:0.1742:0.0	.	59;59;59;59	B4DIB9;Q2MV58;Q2MV58-3;Q2MV58-2	.;TECT1_HUMAN;.;.	T	59	ENSP00000448735:A59T;ENSP00000380775:A59T;ENSP00000380779:A59T	ENSP00000380775:A59T	A	+	1	0	TCTN1	109536545	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.789000	0.04609	-0.890000	0.03945	-0.502000	0.04539	GCT		PASS	0.687	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316016.2	NM_024549		12	13	12	13	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124330637	124330637	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr12:124330637T>C	ENST00000409039.3	+	31	5421	c.5396T>C	c.(5395-5397)aTg>aCg	p.M1799T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1799	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.M391T(1)|p.M1799T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TACGAGTACATGGGCCTGAAC	0.577																																						uc001uft.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(5395-5397)ATG>ACG		dynein, axonemal, heavy chain 10							66.0	70.0	68.0					12																	124330637		2009	4161	6170	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124330637T>C	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5396T>C	12.37:g.124330637T>C	ENSP00000386770:p.Met1799Thr						p.M1799T	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	31	5421	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1799			AAA 1 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.5396T>C	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	T	18.36	3.607801	0.66558	.	.	ENSG00000197653	ENST00000409039	T	0.09350	2.99	5.46	5.46	0.80206	.	0.058882	0.64402	U	0.000003	T	0.30198	0.0757	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.01528	-1.1332	10	0.87932	D	0	.	15.5238	0.75885	0.0:0.0:0.0:1.0	.	1799	Q8IVF4	DYH10_HUMAN	T	1799	ENSP00000386770:M1799T	ENSP00000386770:M1799T	M	+	2	0	DNAH10	122896590	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	7.947000	0.87758	2.061000	0.61500	0.459000	0.35465	ATG		PASS	0.577	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			32	51	32	51	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129566527	129566527	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr12:129566527C>A	ENST00000422113.2	-	7	2026	c.1700G>T	c.(1699-1701)gGc>gTc	p.G567V	TMEM132D_ENST00000389441.4_Missense_Mutation_p.G105V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	567					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.G567V(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CAGGGTGCAGCCGCGGCCCCT	0.642																																						uc009zyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(1699-1701)GGC>GTC		transmembrane protein 132D precursor							48.0	51.0	50.0					12																	129566527		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129566527C>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1700G>T	12.37:g.129566527C>A	ENSP00000408581:p.Gly567Val					TMEM132D_uc001uia.2_Missense_Mutation_p.G105V	p.G567V	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	7	2028	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	567			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1700G>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825699	0.90955	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.32023	1.47;1.47	4.72	4.72	0.59763	.	0.080003	0.52532	D	0.000074	T	0.62792	0.2457	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.99	T	0.71286	-0.4638	9	.	.	.	-38.4624	17.6741	0.88225	0.0:1.0:0.0:0.0	.	567;105	Q14C87;Q14C87-2	T132D_HUMAN;.	V	105;567	ENSP00000374092:G105V;ENSP00000408581:G567V	.	G	-	2	0	TMEM132D	128132480	1.000000	0.71417	0.961000	0.40146	0.974000	0.67602	7.625000	0.83145	2.149000	0.67028	0.561000	0.74099	GGC		PASS	0.642	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		42	65	42	65	---	---	---	---
ATP8A2	51761	broad.mit.edu	37	13	26411317	26411317	+	Missense_Mutation	SNP	C	C	G	rs199692798		TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr13:26411317C>G	ENST00000381655.2	+	29	2913	c.2771C>G	c.(2770-2772)cCg>cGg	p.P924R	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.P859R	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	884					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.P924R(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACCGCTTTGCCGCCCTTCACT	0.498																																						uc001uqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(2770-2772)CCG>CGG		ATPase, aminophospholipid transporter-like,							119.0	115.0	116.0					13																	26411317		1904	4130	6034	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26411317C>G	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2771C>G	13.37:g.26411317C>G	ENSP00000371070:p.Pro924Arg					ATP8A2_uc010tdi.1_Missense_Mutation_p.P859R|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.P474R	p.P924R	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	29	2913	+		Breast(139;0.0201)|Lung SC(185;0.0225)	884			Helical; (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.2771C>G	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652816	0.88056	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	D;D	0.81821	-1.54;-1.54	5.83	5.83	0.93111	.	0.054750	0.85682	D	0.000000	D	0.95043	0.8395	H	0.99391	4.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.96830	0.9610	10	0.87932	D	0	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	859;704;884	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	R	924;859;704	ENSP00000371070:P924R;ENSP00000255283:P859R	ENSP00000255283:P859R	P	+	2	0	ATP8A2	25309317	1.000000	0.71417	0.770000	0.31555	0.991000	0.79684	7.818000	0.86416	2.769000	0.95229	0.655000	0.94253	CCG		PASS	0.498	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		61	96	61	96	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32914165	32914165	+	Silent	SNP	A	A	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr13:32914165A>T	ENST00000380152.3	+	11	5906	c.5673A>T	c.(5671-5673)gcA>gcT	p.A1891A	BRCA2_ENST00000544455.1_Silent_p.A1891A			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1891					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.A1891A(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAATTATGGCAGGTTGTTACG	0.323			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		2	Substitution - coding silent(2)		lung(2)	ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(5671-5673)GCA>GCT	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							40.0	40.0	40.0					13																	32914165		2203	4298	6501	SO:0001819	synonymous_variant	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32914165A>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.5673A>T	13.37:g.32914165A>T		TCGA Ovarian(8;0.087)					p.A1891A	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	5900	+		Lung SC(185;0.0262)	1891					O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	c.5673A>T	CCDS9344.1																																																																																				PASS	0.323	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		14	48	14	48	---	---	---	---
LCP1	3936	broad.mit.edu	37	13	46725120	46725120	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr13:46725120A>T	ENST00000398576.2	-	11	1221	c.833T>A	c.(832-834)cTg>cAg	p.L278Q	LCP1_ENST00000323076.2_Missense_Mutation_p.L278Q			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	278	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)	p.L278Q(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TGCATTTTCCAGGTGGTAATT	0.473			T	BCL6	NHL																																	uc001vaz.3				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL 		1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)	7						c.(832-834)CTG>CAG		L-plastin							118.0	105.0	109.0					13																	46725120		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46725120A>T	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.833T>A	13.37:g.46725120A>T	ENSP00000381581:p.Leu278Gln					LCP1_uc001vba.3_Missense_Mutation_p.L278Q	p.L278Q	NM_002298	NP_002289	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	8	959	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	278			CH 2.|Actin-binding 1.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.833T>A	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.787677	0.90367	.	.	ENSG00000136167	ENST00000323076;ENST00000398576	D;D	0.99121	-5.45;-5.45	5.79	5.79	0.91817	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.99507	0.9824	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98188	1.0461	10	0.87932	D	0	-9.2703	15.3042	0.73979	1.0:0.0:0.0:0.0	.	278	P13796	PLSL_HUMAN	Q	278	ENSP00000315757:L278Q;ENSP00000381581:L278Q	ENSP00000315757:L278Q	L	-	2	0	LCP1	45623121	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.202000	0.70862	0.533000	0.62120	CTG		PASS	0.473	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		79	111	79	111	---	---	---	---
INTS6	26512	broad.mit.edu	37	13	51948489	51948489	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr13:51948489G>C	ENST00000311234.4	-	15	2431	c.1959C>G	c.(1957-1959)atC>atG	p.I653M	INTS6_ENST00000463928.1_Intron|INTS6_ENST00000490542.1_Missense_Mutation_p.I337M|INTS6_ENST00000425000.1_Missense_Mutation_p.I221M|INTS6_ENST00000497989.1_Missense_Mutation_p.I475M|INTS6_ENST00000398119.2_Missense_Mutation_p.I640M	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	653					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)	p.I653M(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		GTCTTTTAGGGATCCCTTGCA	0.428																																						uc001vfk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1957-1959)ATC>ATG		integrator complex subunit 6 isoform a							169.0	164.0	166.0					13																	51948489		2203	4300	6503	SO:0001583	missense	26512				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	g.chr13:51948489G>C	AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.1959C>G	13.37:g.51948489G>C	ENSP00000310260:p.Ile653Met					INTS6_uc001vfi.2_Missense_Mutation_p.I337M|INTS6_uc001vfj.2_Missense_Mutation_p.I640M|INTS6_uc001vfl.2_Missense_Mutation_p.I475M	p.I653M	NM_012141	NP_036273	Q9UL03	INT6_HUMAN		GBM - Glioblastoma multiforme(99;7.7e-08)	15	2573	-		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)	653					Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	ENST00000311234.4	37	c.1959C>G	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627438	0.28978	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989;ENST00000425000;ENST00000490542	.	.	.	5.32	4.48	0.54585	.	0.217213	0.49916	D	0.000125	T	0.41627	0.1167	L	0.36672	1.1	0.80722	D	1	P	0.41366	0.747	B	0.40165	0.321	T	0.24621	-1.0155	9	0.33940	T	0.23	-3.9013	9.8654	0.41140	0.1746:0.0:0.8254:0.0	.	653	Q9UL03	INT6_HUMAN	M	653;640;475;221;337	.	ENSP00000310260:I653M	I	-	3	3	INTS6	50846490	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.200000	0.32247	1.380000	0.46344	-0.229000	0.12294	ATC		PASS	0.428	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		164	190	164	190	---	---	---	---
HNRNPA1L2	144983	broad.mit.edu	37	13	53217355	53217355	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr13:53217355G>T	ENST00000357495.2	+	1	788	c.728G>T	c.(727-729)gGc>gTc	p.G243V	HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.G243V|HNRNPA1L2_ENST00000342657.3_Missense_Mutation_p.G243V			Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	243	Gly-rich.				alternative mRNA splicing, via spliceosome (GO:0000380)|mRNA transport (GO:0051028)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.G243V(1)		cervix(1)|large_intestine(1)|lung(5)	7						agtggggatggctataatgga	0.468																																						uc001vgx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(727-729)GGC>GTC		heterogeneous nuclear ribonucleoprotein A1-like							23.0	18.0	19.0					13																	53217355		1940	3782	5722	SO:0001583	missense	144983				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding	g.chr13:53217355G>T		CCDS31980.1	13q14.3	2013-02-12			ENSG00000139675	ENSG00000139675		"""RNA binding motif (RRM) containing"""	27067	protein-coding gene	gene with protein product						12477932	Standard	NM_001011724		Approved	LOC144983	uc001vgy.1	Q32P51	OTTHUMG00000016972	ENST00000357495.2:c.728G>T	13.37:g.53217355G>T	ENSP00000350090:p.Gly243Val					HNRNPA1L2_uc001vgy.1_Missense_Mutation_p.G243V|HNRNPA1L2_uc001vgz.1_Missense_Mutation_p.G243V	p.G243V	NM_001011724	NP_001011724	Q32P51	RA1L2_HUMAN			7	1801	+			243			Gly-rich.		Q5TBS2	Missense_Mutation	SNP	ENST00000357495.2	37	c.728G>T	CCDS31980.1	.	.	.	.	.	.	.	.	.	.	g	11.72	1.721831	0.30503	.	.	ENSG00000139675	ENST00000342657;ENST00000398039;ENST00000357495	D;D;D	0.89617	-2.54;-2.54;-2.54	0.352	0.352	0.16051	.	.	.	.	.	D	0.87557	0.6207	M	0.86343	2.81	0.48452	D	0.999658	P	0.52061	0.95	B	0.40825	0.341	D	0.85321	0.1084	9	0.72032	D	0.01	.	6.5752	0.22562	2.0E-4:0.0:0.9998:0.0	.	243	Q32P51	RA1L2_HUMAN	V	243	ENSP00000341285:G243V;ENSP00000381119:G243V;ENSP00000350090:G243V	ENSP00000341285:G243V	G	+	2	0	HNRNPA1L2	52115356	0.074000	0.21230	0.990000	0.47175	0.425000	0.31504	0.653000	0.24902	0.455000	0.26910	0.089000	0.15464	GGC		PASS	0.468	HNRNPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045098.1	NM_001011724		14	15	14	15	---	---	---	---
KLHL1	57626	broad.mit.edu	37	13	70514254	70514254	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr13:70514254G>T	ENST00000377844.4	-	4	1691	c.932C>A	c.(931-933)cCa>cAa	p.P311Q	KLHL1_ENST00000545028.1_Missense_Mutation_p.P118Q	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	311					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.P311Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ACAGTTAGATGGATGCAAAAG	0.468																																						uc001vip.2																			1	Substitution - Missense(1)		lung(1)		0						c.(931-933)CCA>CAA		kelch-like 1 protein							89.0	78.0	82.0					13																	70514254		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70514254G>T	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.932C>A	13.37:g.70514254G>T	ENSP00000367075:p.Pro311Gln					KLHL1_uc010thm.1_Missense_Mutation_p.P250Q	p.P311Q	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	4	1726	-		Breast(118;0.000162)	311					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.932C>A	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987592	0.93106	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.73363	-0.74;-0.51	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000003	D	0.89681	0.6785	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.987	D	0.91341	0.5097	10	0.87932	D	0	.	19.7664	0.96346	0.0:0.0:1.0:0.0	.	311;311	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	Q	311;118	ENSP00000367075:P311Q;ENSP00000439602:P118Q	ENSP00000367075:P311Q	P	-	2	0	KLHL1	69412255	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	9.869000	0.99810	2.671000	0.90904	0.557000	0.71058	CCA		PASS	0.468	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		35	28	35	28	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77760039	77760039	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr13:77760039G>A	ENST00000544440.2	-	31	4314	c.4297C>T	c.(4297-4299)Cgt>Tgt	p.R1433C	MYCBP2_ENST00000407578.2_Missense_Mutation_p.R1471C|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R1433C					MYC binding protein 2, E3 ubiquitin protein ligase									p.R1433C(2)|p.R1471C(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GTATAGACACGCAATAACCTC	0.373																																						uc001vkf.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(4297-4299)CGT>TGT		MYC binding protein 2							95.0	80.0	85.0					13																	77760039		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77760039G>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.4297C>T	13.37:g.77760039G>A	ENSP00000444596:p.Arg1433Cys					MYCBP2_uc010aev.2_Missense_Mutation_p.R837C	p.R1433C	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	32	4388	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1433						Missense_Mutation	SNP	ENST00000544440.2	37	c.4297C>T		.	.	.	.	.	.	.	.	.	.	G	20.4	3.979710	0.74360	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.35973	1.28;1.28;1.28	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.41903	0.1179	L	0.55990	1.75	0.80722	D	1	D	0.61697	0.99	P	0.47744	0.556	T	0.38178	-0.9673	10	0.87932	D	0	.	13.6769	0.62460	0.0:0.0:0.7421:0.2579	.	1433	O75592	MYCB2_HUMAN	C	1433;1471;1433	ENSP00000349892:R1433C;ENSP00000384288:R1471C;ENSP00000444596:R1433C	ENSP00000349892:R1433C	R	-	1	0	MYCBP2	76658040	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.783000	0.47766	2.664000	0.90586	0.561000	0.74099	CGT		PASS	0.373	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		49	59	49	59	---	---	---	---
SLITRK6	84189	broad.mit.edu	37	13	86368471	86368471	+	Nonsense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr13:86368471C>A	ENST00000400286.2	-	2	2771	c.2173G>T	c.(2173-2175)Gaa>Taa	p.E725*		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	725					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.E725*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GAATGATTTTCCTGTTCCAAA	0.393																																						uc001vll.1																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(2173-2175)GAA>TAA		slit and trk like 6 precursor							286.0	278.0	280.0					13																	86368471		1863	4108	5971	SO:0001587	stop_gained	84189					integral to membrane		g.chr13:86368471C>A	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.2173G>T	13.37:g.86368471C>A	ENSP00000383143:p.Glu725*					SLITRK6_uc010afe.1_Nonsense_Mutation_p.E178*	p.E725*	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	2632	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		725			Cytoplasmic (Potential).		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Nonsense_Mutation	SNP	ENST00000400286.2	37	c.2173G>T	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	C	44	10.709188	0.99454	.	.	ENSG00000184564	ENST00000400286	.	.	.	5.84	5.84	0.93424	.	0.086147	0.47455	U	0.000225	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-13.495	18.719	0.91686	0.0:1.0:0.0:0.0	.	.	.	.	X	725	.	ENSP00000383143:E725X	E	-	1	0	SLITRK6	85266472	1.000000	0.71417	0.988000	0.46212	0.823000	0.46562	7.463000	0.80869	2.760000	0.94817	0.655000	0.94253	GAA		PASS	0.393	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		232	353	232	353	---	---	---	---
TMTC4	84899	broad.mit.edu	37	13	101287430	101287430	+	Nonsense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr13:101287430C>A	ENST00000376234.3	-	10	1354	c.1165G>T	c.(1165-1167)Gga>Tga	p.G389*	TMTC4_ENST00000342624.5_Nonsense_Mutation_p.G408*|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Nonsense_Mutation_p.G278*	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	389						integral component of membrane (GO:0016021)		p.G408*(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACGAGAAATCCCAGGCCCAGA	0.468																																						uc001vou.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1165-1167)GGA>TGA		transmembrane and tetratricopeptide repeat							33.0	30.0	31.0					13																	101287430		2203	4300	6503	SO:0001587	stop_gained	84899					integral to membrane	binding	g.chr13:101287430C>A		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1165G>T	13.37:g.101287430C>A	ENSP00000365408:p.Gly389*					TMTC4_uc001vot.2_Nonsense_Mutation_p.G408*|TMTC4_uc010tja.1_Nonsense_Mutation_p.G278*|TMTC4_uc001vov.1_Nonsense_Mutation_p.G134*|TMTC4_uc001vow.1_Nonsense_Mutation_p.G172*	p.G389*	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN			10	1325	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		389			Helical; (Potential).		A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Nonsense_Mutation	SNP	ENST00000376234.3	37	c.1165G>T	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	C	40	7.998997	0.98602	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	.	.	.	5.4	5.4	0.78164	.	0.052883	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.2049	0.93726	0.0:1.0:0.0:0.0	.	.	.	.	X	389;408;278	.	ENSP00000365409:G278X	G	-	1	0	TMTC4	100085431	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.724000	0.54962	2.527000	0.85204	0.563000	0.77884	GGA		PASS	0.468	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		12	19	12	19	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101759882	101759883	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr13:101759882_101759883CC>AA	ENST00000251127.6	-	22	2615_2616	c.2534_2535GG>TT	c.(2533-2535)aGG>aTT	p.R845I		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	845					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.R845M(1)|p.R845I(1)|p.R845S(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGTTTCTGAACCTGTGTTCTCG	0.51																																						uc001vox.1																			3	Substitution - Missense(3)		lung(3)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(2533-2535)AGG>AGT|c.(2533-2535)AGG>ATG		voltage gated channel like 1																																				SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101759882C>A|g.chr13:101759883C>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2534_2535delinsAA	13.37:g.101759882_101759883delinsAA	ENSP00000251127:p.Arg845Ile						p.R845S|p.R845M	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			22	2724|2723	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		845			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.2535G>T|c.2534G>T	CCDS9498.1																																																																																				PASS	0.510	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		55|54	100|101	54	100	---	---	---	---
COL4A2	1284	broad.mit.edu	37	13	111117753	111117753	+	Splice_Site	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr13:111117753G>A	ENST00000360467.5	+	25	2084	c.1778G>A	c.(1777-1779)gGt>gAt	p.G593D	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	593	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.G593D(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TTCACACAGGGTGATGGCATC	0.493																																						uc001vqx.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|central_nervous_system(2)|ovary(1)	6						c.(1777-1779)GGT>GAT		alpha 2 type IV collagen preproprotein							40.0	45.0	43.0					13																	111117753		1811	4070	5881	SO:0001630	splice_region_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111117753G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1777-1G>A	13.37:g.111117753G>A							p.G593D	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		25	2067	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	593			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.1778G>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717666	0.30413	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.98792	-5.14	4.65	4.65	0.58169	.	0.000000	0.51477	D	0.000098	D	0.99193	0.9720	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99368	1.0919	10	0.72032	D	0.01	.	17.1381	0.86745	0.0:0.0:1.0:0.0	.	593	P08572	CO4A2_HUMAN	D	593	ENSP00000353654:G593D	ENSP00000257309:G593D	G	+	2	0	COL4A2	109915754	1.000000	0.71417	0.994000	0.49952	0.615000	0.37417	5.662000	0.68032	2.136000	0.66102	0.462000	0.41574	GGT		PASS	0.493	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846	Missense_Mutation	60	99	60	99	---	---	---	---
OR4M1	441670	broad.mit.edu	37	14	20249064	20249064	+	Nonsense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr14:20249064G>T	ENST00000315957.4	+	1	664	c.583G>T	c.(583-585)Gag>Tag	p.E195*		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E195*(1)		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)		CACCTTCCCAGAGGAGTTAGT	0.468																																						uc010tku.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(583-585)GAG>TAG		olfactory receptor, family 4, subfamily M,							347.0	297.0	314.0					14																	20249064		2203	4297	6500	SO:0001587	stop_gained	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249064G>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.583G>T	14.37:g.20249064G>T	ENSP00000319654:p.Glu195*						p.E195*	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	583	+	all_cancers(95;0.00108)		195			Extracellular (Potential).		B9EH18|Q6IFA3	Nonsense_Mutation	SNP	ENST00000315957.4	37	c.583G>T	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	22.8	4.335250	0.81801	.	.	ENSG00000176299	ENST00000315957	.	.	.	4.43	3.46	0.39613	.	0.000000	0.49916	D	0.000122	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.3922	5.0318	0.14413	0.1061:0.0:0.6865:0.2073	.	.	.	.	X	195	.	ENSP00000319654:E195X	E	+	1	0	OR4M1	19318904	0.000000	0.05858	0.481000	0.27354	0.986000	0.74619	0.343000	0.19944	2.464000	0.83262	0.506000	0.49869	GAG		PASS	0.468	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			167	213	167	213	---	---	---	---
NYNRIN	57523	broad.mit.edu	37	14	24877620	24877620	+	Silent	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr14:24877620G>T	ENST00000382554.3	+	3	1062	c.744G>T	c.(742-744)ggG>ggT	p.G248G		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	248					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.G248G(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGGACATGGGGACCCTCCAGA	0.592																																						uc001wpf.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(742-744)GGG>GGT		hypothetical protein LOC57523							39.0	42.0	41.0					14																	24877620		1953	4153	6106	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24877620G>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.744G>T	14.37:g.24877620G>T							p.G248G	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			3	1062	+			248					Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.744G>T	CCDS45090.1																																																																																				PASS	0.592	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			53	74	53	74	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42356843	42356843	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr14:42356843A>T	ENST00000298119.4	+	3	2204	c.1015A>T	c.(1015-1017)Aac>Tac	p.N339Y	LRFN5_ENST00000554171.1_Missense_Mutation_p.N339Y|LRFN5_ENST00000554120.1_Missense_Mutation_p.N339Y	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	339	Ig-like.					integral component of membrane (GO:0016021)		p.N339Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GGTGTATGATAACGGAACACT	0.448										HNSCC(30;0.082)																												uc001wvm.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1015-1017)AAC>TAC		leucine rich repeat and fibronectin type III							127.0	124.0	125.0					14																	42356843		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356843A>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1015A>T	14.37:g.42356843A>T	ENSP00000298119:p.Asn339Tyr	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.N339Y	p.N339Y	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	2213	+			339			Extracellular (Potential).|Ig-like.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1015A>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.704849	0.48412	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.74947	-0.89;-0.89;-0.89	5.4	5.4	0.78164	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000011	D	0.88749	0.6521	M	0.92122	3.275	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.81914	0.994;0.995	D	0.91257	0.5034	10	0.87932	D	0	.	13.6708	0.62424	1.0:0.0:0.0:0.0	.	339;339	G3V364;Q96NI6	.;LRFN5_HUMAN	Y	339	ENSP00000298119:N339Y;ENSP00000451897:N339Y;ENSP00000451067:N339Y	ENSP00000298119:N339Y	N	+	1	0	LRFN5	41426593	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	4.195000	0.58400	2.165000	0.68154	0.460000	0.39030	AAC		PASS	0.448	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		86	128	86	128	---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44974473	44974473	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr14:44974473G>T	ENST00000340446.4	-	1	2009	c.1718C>A	c.(1717-1719)cCt>cAt	p.P573H	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	573	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.P573H(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AAGCTCAAGAGGGGCCTCTTC	0.522																																						uc001wvn.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(1717-1719)CCT>CAT		fibrous sheath CABYR binding protein							31.0	33.0	32.0					14																	44974473		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44974473G>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1718C>A	14.37:g.44974473G>T	ENSP00000344579:p.Pro573His						p.P573H	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2027	-			573			Ala-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.1718C>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957568	0.53400	.	.	ENSG00000189139	ENST00000340446	T	0.18810	2.19	5.55	3.73	0.42828	.	.	.	.	.	T	0.34424	0.0897	L	0.36672	1.1	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.09058	-1.0692	9	0.66056	D	0.02	.	10.5499	0.45081	0.1594:0.0:0.8406:0.0	.	573	Q5H9T9	FSCB_HUMAN	H	573	ENSP00000344579:P573H	ENSP00000344579:P573H	P	-	2	0	FSCB	44044223	0.000000	0.05858	0.001000	0.08648	0.056000	0.15407	0.142000	0.16096	0.834000	0.34852	0.603000	0.83216	CCT		PASS	0.522	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		24	47	24	47	---	---	---	---
PAPLN	89932	broad.mit.edu	37	14	73719481	73719481	+	Silent	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr14:73719481G>A	ENST00000554301.1	+	10	1255	c.1092G>A	c.(1090-1092)aaG>aaA	p.K364K	PAPLN_ENST00000340738.5_Silent_p.K337K|PAPLN_ENST00000381166.3_Silent_p.K364K|PAPLN_ENST00000427855.1_Silent_p.K364K|PAPLN_ENST00000555445.1_Silent_p.K364K			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	364	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.K364K(1)|p.K337K(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CGGAGACCAAGCGGTGAGACC	0.607																																						uc010ttx.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1090-1092)AAG>AAA		papilin							67.0	69.0	69.0					14																	73719481		2203	4300	6503	SO:0001819	synonymous_variant	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73719481G>A	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1092G>A	14.37:g.73719481G>A						PAPLN_uc001xnw.3_Silent_p.K337K|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Silent_p.K364K	p.K364K	NM_173462	NP_775733	O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	10	1255	+			364			TSP type-1 3.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	37	c.1092G>A																																																																																					PASS	0.607	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		19	167	19	167	---	---	---	---
TECPR2	9895	broad.mit.edu	37	14	102916037	102916037	+	Silent	SNP	G	G	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr14:102916037G>C	ENST00000359520.7	+	14	3373	c.3147G>C	c.(3145-3147)tcG>tcC	p.S1049S	TECPR2_ENST00000558678.1_Silent_p.S1049S	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1049					autophagy (GO:0006914)|cell death (GO:0008219)			p.S1049S(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CCACTCACTCGGTGGCCACAG	0.562																																						uc001ylw.1																			2	Substitution - coding silent(2)		lung(1)|kidney(1)	lung(1)|central_nervous_system(1)|skin(1)	3						c.(3145-3147)TCG>TCC		tectonin beta-propeller repeat containing 2							116.0	107.0	110.0					14																	102916037		2203	4300	6503	SO:0001819	synonymous_variant	9895						protein binding	g.chr14:102916037G>C	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.3147G>C	14.37:g.102916037G>C						TECPR2_uc010awl.2_Silent_p.S1049S|TECPR2_uc010txx.1_Silent_p.S212S	p.S1049S	NM_014844	NP_055659	O15040	TCPR2_HUMAN			14	3295	+			1049					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP	ENST00000359520.7	37	c.3147G>C	CCDS32162.1																																																																																				PASS	0.562	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		61	71	61	71	---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25924794	25924794	+	Silent	SNP	T	T	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr15:25924794T>A	ENST00000356865.6	-	21	4305	c.4194A>T	c.(4192-4194)ccA>ccT	p.P1398P		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1398					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.P1398P(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CAGCCTCCCCTGGCGCAGAGG	0.677																																						uc010ayu.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(4192-4194)CCA>CCT		ATPase, class V, type 10A							36.0	36.0	36.0					15																	25924794		2202	4299	6501	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25924794T>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.4194A>T	15.37:g.25924794T>A							p.P1398P	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	21	4300	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1398			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.4194A>T	CCDS32178.1																																																																																				PASS	0.677	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		36	58	36	58	---	---	---	---
CAPN3	825	broad.mit.edu	37	15	42693953	42693953	+	Missense_Mutation	SNP	G	G	T	rs121434548		TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr15:42693953G>T	ENST00000397163.3	+	11	1688	c.1469G>T	c.(1468-1470)cGg>cTg	p.R490L	CAPN3_ENST00000356316.3_Missense_Mutation_p.R403L|CAPN3_ENST00000397200.4_5'Flank|CAPN3_ENST00000318023.7_Missense_Mutation_p.R490L|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Missense_Mutation_p.R490L|CAPN3_ENST00000349748.3_Missense_Mutation_p.R442L	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	490	Domain III.		R -> Q (in LGMD2A). {ECO:0000269|PubMed:9266733}.|R -> W (in LGMD2A; dbSNP:rs141656719).		apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R403L(1)|p.R490L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AAGAACCGGCGGAAGGACCGG	0.572																																						uc001zpn.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1	GRCh37	CM970217	CAPN3	M	rs121434548	c.(1468-1470)CGG>CTG		calpain 3 isoform a							72.0	61.0	65.0					15																	42693953		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42693953G>T	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1469G>T	15.37:g.42693953G>T	ENSP00000380349:p.Arg490Leu					CAPN3_uc001zpk.1_Missense_Mutation_p.R263L|CAPN3_uc001zpl.1_Missense_Mutation_p.R403L|CAPN3_uc010udf.1_Missense_Mutation_p.R403L|CAPN3_uc010udg.1_Missense_Mutation_p.R355L|CAPN3_uc001zpo.1_Missense_Mutation_p.R490L|CAPN3_uc001zpp.1_Missense_Mutation_p.R442L|CAPN3_uc001zpq.1_5'Flank	p.R490L	NM_000070	NP_000061	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	11	1775	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	490		R -> W (in LGMD2A).|R -> Q (in LGMD2A).	Domain III.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.1469G>T	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.777390	0.90195	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71	4.69	4.69	0.59074	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	U	0.000000	D	0.95903	0.8666	M	0.86502	2.82	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.996;1.0;1.0;1.0	D	0.96655	0.9484	10	0.87932	D	0	.	17.8105	0.88614	0.0:0.0:1.0:0.0	.	355;403;442;490;490;403	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	L	403;490;490;442;490	ENSP00000348667:R403L;ENSP00000380349:R490L;ENSP00000350181:R490L;ENSP00000183936:R442L;ENSP00000326281:R490L	ENSP00000326281:R490L	R	+	2	0	CAPN3	40481245	1.000000	0.71417	0.987000	0.45799	0.604000	0.37047	9.518000	0.98022	2.434000	0.82447	0.563000	0.77884	CGG		PASS	0.572	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			20	23	20	23	---	---	---	---
SLC12A1	6557	broad.mit.edu	37	15	48539555	48539555	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr15:48539555T>A	ENST00000558405.1	+	12	1596	c.1582T>A	c.(1582-1584)Tac>Aac	p.Y528N	SLC12A1_ENST00000380993.3_Missense_Mutation_p.Y528N|SLC12A1_ENST00000396577.3_Missense_Mutation_p.Y528N			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	528					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.Y528N(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GGACAACATCTACAAAGCCCT	0.363																																						uc001zwn.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1582-1584)TAC>AAC		sodium potassium chloride cotransporter 2	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						85.0	86.0	86.0					15																	48539555		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48539555T>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1582T>A	15.37:g.48539555T>A	ENSP00000453409:p.Tyr528Asn					SLC12A1_uc010uew.1_Missense_Mutation_p.Y334N|SLC12A1_uc010bem.2_Missense_Mutation_p.Y528N|SLC12A1_uc001zwq.3_Missense_Mutation_p.Y299N|SLC12A1_uc001zwr.3_Missense_Mutation_p.Y255N	p.Y528N	NM_000338	NP_000329	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	13	1798	+		all_lung(180;0.00219)	528			Cytoplasmic (Potential).		A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.1582T>A	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	T	23.5	4.425462	0.83667	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577	D;D	0.98835	-5.17;-5.17	5.33	5.33	0.75918	Amino acid permease domain (1);	0.057417	0.64402	D	0.000001	D	0.99296	0.9754	M	0.92219	3.285	0.80722	D	1	D;D	0.57571	0.979;0.98	P;D	0.73380	0.843;0.98	D	0.98928	1.0786	10	0.87932	D	0	.	15.4613	0.75359	0.0:0.0:0.0:1.0	.	528;528	E9PDW4;Q13621	.;S12A1_HUMAN	N	341;528;528	ENSP00000370381:Y528N;ENSP00000379822:Y528N	ENSP00000370381:Y528N	Y	+	1	0	SLC12A1	46326847	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.864000	0.87037	2.232000	0.73038	0.533000	0.62120	TAC		PASS	0.363	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			61	56	61	56	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48713001	48713001	+	Missense_Mutation	SNP	C	C	A	rs138558987		TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr15:48713001C>A	ENST00000316623.5	-	63	8157	c.7702G>T	c.(7702-7704)Gtg>Ttg	p.V2568L		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2568	EGF-like 45; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.V2568L(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CACTCGTCCACGTCTGAAAAA	0.537																																						uc001zwx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3	GRCh37	CM077254	FBN1	M	rs138558987	c.(7702-7704)GTG>TTG		fibrillin 1 precursor							66.0	58.0	61.0					15																	48713001		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48713001C>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7702G>T	15.37:g.48713001C>A	ENSP00000325527:p.Val2568Leu					FBN1_uc010beo.1_RNA	p.V2568L	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	63	8030	-		all_lung(180;0.00279)	2568			EGF-like 45; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.7702G>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445315	0.63178	.	.	ENSG00000166147	ENST00000316623	D	0.93659	-3.26	5.99	5.99	0.97316	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.097775	0.64402	D	0.000001	D	0.91175	0.7220	L	0.28694	0.88	0.80722	D	1	B	0.28378	0.209	B	0.36335	0.222	D	0.87234	0.2262	10	0.33940	T	0.23	.	20.0728	0.97731	0.0:1.0:0.0:0.0	.	2568	P35555	FBN1_HUMAN	L	2568	ENSP00000325527:V2568L	ENSP00000325527:V2568L	V	-	1	0	FBN1	46500293	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	3.201000	0.51059	2.840000	0.97914	0.655000	0.94253	GTG		PASS	0.537	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			30	36	30	36	---	---	---	---
SECISBP2L	9728	broad.mit.edu	37	15	49329817	49329817	+	Silent	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr15:49329817G>A	ENST00000559471.1	-	2	437	c.174C>T	c.(172-174)taC>taT	p.Y58Y	SECISBP2L_ENST00000261847.3_Silent_p.Y58Y	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	58							poly(A) RNA binding (GO:0044822)	p.Y58Y(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GCACAAATGGGTAACAAGTAA	0.383																																						uc001zxe.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(172-174)TAC>TAT		SECIS binding protein 2-like							82.0	74.0	77.0					15																	49329817		2197	4295	6492	SO:0001819	synonymous_variant	9728							g.chr15:49329817G>A	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.174C>T	15.37:g.49329817G>A						SECISBP2L_uc001zxd.1_Silent_p.Y58Y|SECISBP2L_uc010bep.1_5'UTR|SECISBP2L_uc010beq.1_Silent_p.Y58Y	p.Y58Y	NM_014701	NP_055516	Q93073	SBP2L_HUMAN			2	308	-			58					Q8N767	Silent	SNP	ENST00000559471.1	37	c.174C>T	CCDS53942.1																																																																																				PASS	0.383	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		42	49	42	49	---	---	---	---
PEAK1	79834	broad.mit.edu	37	15	77407452	77407452	+	Silent	SNP	C	C	T	rs55736391		TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr15:77407452C>T	ENST00000560626.2	-	7	4762	c.4287G>A	c.(4285-4287)acG>acA	p.T1429T	PEAK1_ENST00000312493.4_Silent_p.T1429T			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1429	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.T1429T(2)									TTTTCCCATCCGTTTCTCCTT	0.507																																						uc002bcm.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(4285-4287)ACG>ACA		NKF3 kinase family member							138.0	129.0	132.0					15																	77407452		1973	4155	6128	SO:0001819	synonymous_variant	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77407452C>T		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4287G>A	15.37:g.77407452C>T							p.T1429T	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN		STAD - Stomach adenocarcinoma(199;0.124)	6	4595	-			1429			Protein kinase.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Silent	SNP	ENST00000560626.2	37	c.4287G>A	CCDS42062.1																																																																																				PASS	0.507	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			8	247	8	247	---	---	---	---
ADAMTS7	11173	broad.mit.edu	37	15	79058441	79058441	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr15:79058441G>A	ENST00000388820.4	-	19	4022	c.3812C>T	c.(3811-3813)gCt>gTt	p.A1271V	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1271					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A1271V(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						ACCCTCCAGAGCTGGCTCCCA	0.642																																						uc002bej.3																			1	Substitution - Missense(1)		lung(1)		0						c.(3811-3813)GCT>GTT		ADAM metallopeptidase with thrombospondin type 1							21.0	23.0	22.0					15																	79058441		2182	4289	6471	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79058441G>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3812C>T	15.37:g.79058441G>A	ENSP00000373472:p.Ala1271Val					ADAMTS7_uc010und.1_3'UTR	p.A1271V	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			19	4023	-			1271					Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.3812C>T	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	g	10.51	1.369296	0.24771	.	.	ENSG00000136378	ENST00000388820	T	0.59502	0.26	3.75	1.74	0.24563	.	2.315540	0.01768	N	0.031036	T	0.39200	0.1069	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.19582	-1.0301	10	0.25751	T	0.34	.	3.3571	0.07173	0.2652:0.2222:0.5126:0.0	.	1271	Q9UKP4	ATS7_HUMAN	V	1271	ENSP00000373472:A1271V	ENSP00000373472:A1271V	A	-	2	0	ADAMTS7	76845496	0.004000	0.15560	0.076000	0.20297	0.402000	0.30811	0.520000	0.22878	0.638000	0.30545	0.472000	0.43445	GCT		PASS	0.642	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		28	41	28	41	---	---	---	---
CHTF18	63922	broad.mit.edu	37	16	846977	846977	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr16:846977C>A	ENST00000262315.9	+	20	2681	c.2618C>A	c.(2617-2619)cCa>cAa	p.P873Q	CHTF18_ENST00000317063.6_Missense_Mutation_p.P1082Q|CHTF18_ENST00000455171.2_Missense_Mutation_p.P901Q	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	873					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.P873Q(1)		endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				GGGAGCCCCCCAGGGCTCGAG	0.647																																						uc002cke.3																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(2617-2619)CCA>CAA		CTF18, chromosome transmission fidelity factor							59.0	71.0	67.0					16																	846977		1961	4131	6092	SO:0001583	missense	63922				cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr16:846977C>A	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.2618C>A	16.37:g.846977C>A	ENSP00000262315:p.Pro873Gln					CHTF18_uc002ckf.3_Missense_Mutation_p.P901Q|CHTF18_uc010brf.2_Missense_Mutation_p.P455Q|CHTF18_uc002ckg.3_Missense_Mutation_p.P391Q	p.P873Q	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN			20	2681	+		Hepatocellular(780;0.00335)	873					B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	37	c.2618C>A	CCDS45371.1	.	.	.	.	.	.	.	.	.	.	C	8.259	0.810846	0.16537	.	.	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315	T;T;T	0.10099	2.91;2.93;2.94	4.42	-2.56	0.06268	.	2.764640	0.01420	N	0.014332	T	0.07863	0.0197	L	0.40543	1.245	0.09310	N	1	B;B	0.24920	0.114;0.07	B;B	0.24394	0.053;0.035	T	0.23691	-1.0181	10	0.13470	T	0.59	-1.2373	1.4748	0.02424	0.1439:0.3831:0.1424:0.3306	.	901;873	Q8WVB6-2;Q8WVB6	.;CTF18_HUMAN	Q	1082;901;873	ENSP00000313029:P1082Q;ENSP00000406252:P901Q;ENSP00000262315:P873Q	ENSP00000262315:P873Q	P	+	2	0	CHTF18	786978	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.153000	0.10144	-0.255000	0.09486	-0.671000	0.03813	CCA		PASS	0.647	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		87	16	87	16	---	---	---	---
TSC2	7249	broad.mit.edu	37	16	2094632	2094632	+	5'Flank	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr16:2094632C>T	ENST00000219476.3	+	0	0				NTHL1_ENST00000219066.1_Splice_Site_p.R183K|NTHL1_ENST00000562951.1_5'Flank	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)	p.R183K(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AGGGCTCACCCTCCAGAAACC	0.667			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc002col.1			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249		tuberous sclerosis 2 gene			"""E, O"""					1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(547-549)AGG>AAG	BER_DNA_glycosylases	nth endonuclease III-like 1							49.0	44.0	45.0					16																	2094632		2198	4296	6494	SO:0001631	upstream_gene_variant	4913		Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding	g.chr16:2094632C>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745		16.37:g.2094632C>T	Exception_encountered					NTHL1_uc002com.1_Missense_Mutation_p.R184K	p.R183K	NM_002528	NP_002519	P78549	NTHL1_HUMAN			3	567	-			183					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.548G>A	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	6.491	0.458815	0.12342	.	.	ENSG00000065057	ENST00000219066	D	0.86366	-2.11	5.44	4.48	0.54585	HhH-GPD domain (2);DNA glycosylase (2);	0.092308	0.85682	D	0.000000	T	0.70448	0.3225	N	0.10618	0.005	0.53005	D	0.999963	B;B	0.18741	0.03;0.03	B;B	0.28139	0.086;0.086	T	0.64007	-0.6508	10	0.02654	T	1	-33.5396	9.0992	0.36658	0.0:0.8382:0.0:0.1618	.	183;183	E5KTI5;P78549	.;NTHL1_HUMAN	K	183	ENSP00000219066:R183K	ENSP00000219066:R183K	R	-	2	0	NTHL1	2034633	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	1.970000	0.40520	2.561000	0.86390	0.561000	0.74099	AGG		PASS	0.667	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		46	8	46	8	---	---	---	---
E4F1	1877	broad.mit.edu	37	16	2279622	2279622	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr16:2279622G>C	ENST00000301727.4	+	3	409	c.361G>C	c.(361-363)Gtg>Ctg	p.V121L	E4F1_ENST00000565090.1_Missense_Mutation_p.V121L|E4F1_ENST00000564139.1_Missense_Mutation_p.V121L	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	121					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.V121L(1)		ovary(1)	1						GGCCCACATCGTGGTGGAGGC	0.592																																						uc002cpm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(361-363)GTG>CTG		p120E4F							100.0	105.0	104.0					16																	2279622		2198	4300	6498	SO:0001583	missense	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2279622G>C	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.361G>C	16.37:g.2279622G>C	ENSP00000301727:p.Val121Leu					E4F1_uc010bsi.2_Missense_Mutation_p.V121L|E4F1_uc010bsj.2_Missense_Mutation_p.V121L	p.V121L	NM_004424	NP_004415	Q66K89	E4F1_HUMAN			3	409	+			121					A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	c.361G>C	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283819	0.59867	.	.	ENSG00000167967	ENST00000301727	T	0.06849	3.25	4.62	3.65	0.41850	.	0.423937	0.25909	N	0.027514	T	0.09992	0.0245	L	0.53249	1.67	0.33593	D	0.601369	B;B;B	0.26744	0.158;0.073;0.087	B;B;B	0.27380	0.079;0.022;0.021	T	0.05716	-1.0868	10	0.54805	T	0.06	-20.7327	10.1734	0.42924	0.0945:0.0:0.9055:0.0	.	117;121;121	E9PFZ8;E7EMF7;Q66K89	.;.;E4F1_HUMAN	L	121	ENSP00000301727:V121L	ENSP00000301727:V121L	V	+	1	0	E4F1	2219623	1.000000	0.71417	0.980000	0.43619	0.874000	0.50279	4.736000	0.62059	1.154000	0.42482	0.561000	0.74099	GTG		PASS	0.592	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		152	21	152	21	---	---	---	---
GLYR1	84656	broad.mit.edu	37	16	4895079	4895079	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr16:4895079C>A	ENST00000321919.9	-	3	227	c.151G>T	c.(151-153)Gat>Tat	p.D51Y	UBN1_ENST00000545171.1_5'Flank|GLYR1_ENST00000381983.3_Missense_Mutation_p.D51Y|GLYR1_ENST00000591451.1_Missense_Mutation_p.D51Y|UBN1_ENST00000262376.6_5'Flank|GLYR1_ENST00000436648.5_Missense_Mutation_p.D51Y	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	51	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.D51Y(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						ACTCACTGATCTTCTGTTCCA	0.418																																						uc002cxx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(151-153)GAT>TAT		cytokine-like nuclear factor n-pac							106.0	119.0	115.0					16																	4895079		2197	4300	6497	SO:0001583	missense	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4895079C>A	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.151G>T	16.37:g.4895079C>A	ENSP00000322716:p.Asp51Tyr					GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_5'UTR|GLYR1_uc002cya.2_Missense_Mutation_p.D51Y|GLYR1_uc010uxv.1_Missense_Mutation_p.D51Y|UBN1_uc010uxw.1_5'Flank|UBN1_uc002cyb.2_5'Flank	p.D51Y	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN			3	188	-			51			PWWP.		B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	ENST00000321919.9	37	c.151G>T	CCDS10524.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076242	0.76415	.	.	ENSG00000140632	ENST00000321919;ENST00000381983;ENST00000436648	T;T;T	0.72282	-0.64;-0.64;-0.64	5.25	5.25	0.73442	PWWP (2);	0.000000	0.85682	D	0.000000	D	0.85579	0.5729	M	0.83312	2.635	0.80722	D	1	D;D;D	0.89917	0.983;1.0;1.0	P;D;D	0.87578	0.821;0.996;0.998	D	0.87756	0.2595	10	0.87932	D	0	.	17.6028	0.88030	0.0:1.0:0.0:0.0	.	51;51;51	Q49A26-5;Q49A26-3;Q49A26	.;.;GLYR1_HUMAN	Y	51	ENSP00000322716:D51Y;ENSP00000371413:D51Y;ENSP00000390276:D51Y	ENSP00000322716:D51Y	D	-	1	0	GLYR1	4835080	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.931000	0.70113	2.451000	0.82905	0.491000	0.48974	GAT		PASS	0.418	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		115	22	115	22	---	---	---	---
COG7	91949	broad.mit.edu	37	16	23464258	23464258	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr16:23464258C>T	ENST00000307149.5	-	1	243	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	CTD-2270L9.4_ENST00000570080.1_lincRNA	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	20					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.A20T(1)		breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GCCCTGAAGGCCGCATTGATC	0.607																																						uc002dlo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(58-60)GCC>ACC		component of oligomeric golgi complex 7							57.0	55.0	56.0					16																	23464258		2197	4300	6497	SO:0001583	missense	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23464258C>T	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.58G>A	16.37:g.23464258C>T	ENSP00000305442:p.Ala20Thr						p.A20T	NM_153603	NP_705831	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	1	246	-			20					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.58G>A	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	C	34	5.329641	0.95733	.	.	ENSG00000168434	ENST00000307149	T	0.48836	0.8	4.53	4.53	0.55603	.	0.055087	0.64402	D	0.000001	T	0.57125	0.2032	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.49133	-0.8971	10	0.08837	T	0.75	-20.4631	16.4402	0.83898	0.0:1.0:0.0:0.0	.	20	P83436	COG7_HUMAN	T	20	ENSP00000305442:A20T	ENSP00000305442:A20T	A	-	1	0	COG7	23371759	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.997000	0.76270	2.338000	0.79540	0.305000	0.20034	GCC		PASS	0.607	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			49	54	49	54	---	---	---	---
FUS	2521	broad.mit.edu	37	16	31196347	31196347	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr16:31196347G>T	ENST00000254108.7	+	6	716	c.611G>T	c.(610-612)gGc>gTc	p.G204V	FUS_ENST00000568685.1_Missense_Mutation_p.G204V|FUS_ENST00000380244.3_Missense_Mutation_p.G203V|RP11-388M20.6_ENST00000564743.1_RNA	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	204	Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G204V(1)	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ggtggaggtggcagcggtggC	0.622			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																	uc002ebf.2				Dom	yes		16	16p11.2	2521	T	"""fusion, derived from t(12;16) malignant liposarcoma"""			"""M, L"""	DDIT3|ERG|FEV|ATF1|CREB3L2|CREB3L1		liposarcoma|AML|Ewing sarcoma|angiomatoid fibrous histiocytoma|fibromyxoid sarcoma	FUS/DDIT3(623)|FUS/ERG(163)|FUS/CREB3L2(158)|FUS/CREB3L1(6)|FUS/ATF1(4)|FUS/FEV(2)	1	Substitution - Missense(1)		lung(1)	soft_tissue(791)|haematopoietic_and_lymphoid_tissue(153)|bone(12)|breast(2)	958						c.(610-612)GGC>GTC		fusion (involved in t(12;16) in malignant							59.0	47.0	51.0					16																	31196347		2197	4300	6497	SO:0001583	missense	2521				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr16:31196347G>T	AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.611G>T	16.37:g.31196347G>T	ENSP00000254108:p.Gly204Val					FUS_uc002ebe.1_Missense_Mutation_p.G200V|FUS_uc002ebh.2_Missense_Mutation_p.G203V|FUS_uc002ebg.2_Missense_Mutation_p.A11S|FUS_uc002ebi.2_Missense_Mutation_p.G204V|FUS_uc002ebj.2_Missense_Mutation_p.A11S|FUS_uc002ebk.1_5'Flank	p.G204V	NM_004960	NP_004951	P35637	FUS_HUMAN		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)	6	694	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)	204			Gly-rich.		Q9H4A8	Missense_Mutation	SNP	ENST00000254108.7	37	c.611G>T	CCDS10707.1	.	.	.	.	.	.	.	.	.	.	G	1.899	-0.453623	0.04540	.	.	ENSG00000089280	ENST00000254108	D	0.95885	-3.84	3.35	0.426	0.16479	.	0.239910	0.21458	U	0.074217	D	0.85818	0.5785	N	0.08118	0	0.19300	N	0.999972	B;B;B;B	0.13594	0.002;0.004;0.002;0.008	B;B;B;B	0.14023	0.004;0.01;0.004;0.007	T	0.76992	-0.2753	10	0.66056	D	0.02	-0.0105	3.6158	0.08077	0.2038:0.2554:0.5408:0.0	.	204;203;204;202	Q6IBQ5;P35637-2;P35637;E7EUX0	.;.;FUS_HUMAN;.	V	204	ENSP00000254108:G204V	ENSP00000254108:G204V	G	+	2	0	FUS	31103848	0.998000	0.40836	0.019000	0.16419	0.001000	0.01503	4.987000	0.63857	0.057000	0.16193	-0.282000	0.10007	GGC		PASS	0.622	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960		23	23	23	23	---	---	---	---
NUDT21	11051	broad.mit.edu	37	16	56481718	56481718	+	Silent	SNP	T	T	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr16:56481718T>A	ENST00000300291.5	-	2	472	c.300A>T	c.(298-300)ggA>ggT	p.G100G		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	100	Necessary for RNA-binding.|Necessary for interactions with PAPOLA and PABPN1.|Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	AU-rich element binding (GO:0017091)|histone deacetylase binding (GO:0042826)|hydrolase activity (GO:0016787)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.G100G(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						AGAAAGTTGTTCCCAGCTGCA	0.418																																						uc002eja.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(298-300)GGA>GGT		cleavage and polyadenylation specific factor 5							106.0	91.0	96.0					16																	56481718		2198	4300	6498	SO:0001819	synonymous_variant	11051				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity	g.chr16:56481718T>A	AJ001810	CCDS10760.1	16q12.2	2013-06-18	2005-07-11	2005-07-11	ENSG00000167005	ENSG00000167005		"""Nudix motif containing"""	13870	protein-coding gene	gene with protein product	"""cleavage factor Im complex 25 kDa subunit"""	604978	"""cleavage and polyadenylation specific factor 5, 25 kDa"", ""cleavage and polyadenylation specific factor 5, 25 kD subunit"""	CPSF5		9659921	Standard	NM_007006		Approved	CFIM25	uc002eja.3	O43809	OTTHUMG00000133240	ENST00000300291.5:c.300A>T	16.37:g.56481718T>A						NUDT21_uc002eiz.2_Silent_p.G25G	p.G100G	NM_007006	NP_008937	O43809	CPSF5_HUMAN			2	447	-			100			Nudix hydrolase.|Necessary for interactions with PAPOLA and PABPN1.|Necessary for RNA-binding.		Q6IB85|Q6NE84	Silent	SNP	ENST00000300291.5	37	c.300A>T	CCDS10760.1																																																																																				PASS	0.418	NUDT21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256980.3	NM_007006		60	70	60	70	---	---	---	---
CDH5	1003	broad.mit.edu	37	16	66432377	66432377	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr16:66432377G>A	ENST00000341529.3	+	10	1652	c.1504G>A	c.(1504-1506)Gca>Aca	p.A502T	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	502	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)	p.A502T(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	GCAGATCTCCGCAATAGACAA	0.498																																						uc002eom.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(1504-1506)GCA>ACA		cadherin 5, type 2 preproprotein							145.0	122.0	130.0					16																	66432377		2201	4300	6501	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66432377G>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1504G>A	16.37:g.66432377G>A	ENSP00000344115:p.Ala502Thr						p.A502T	NM_001795	NP_001786	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	10	1660	+		Ovarian(137;0.0955)	502			Cadherin 5.|Extracellular (Potential).		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.1504G>A	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743574	0.89663	.	.	ENSG00000179776	ENST00000341529;ENST00000379531;ENST00000539262	T	0.61392	0.11	4.95	4.95	0.65309	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.82309	0.5009	H	0.95539	3.685	0.80722	D	1	D	0.67145	0.996	D	0.73708	0.981	D	0.87432	0.2389	9	0.87932	D	0	.	15.0434	0.71807	0.0:0.0:1.0:0.0	.	502	P33151	CADH5_HUMAN	T	502;387;243	ENSP00000344115:A502T	ENSP00000344115:A502T	A	+	1	0	CDH5	64989878	1.000000	0.71417	0.961000	0.40146	0.996000	0.88848	6.705000	0.74644	2.588000	0.87417	0.561000	0.74099	GCA		PASS	0.498	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		52	69	52	69	---	---	---	---
RLTPR	146206	broad.mit.edu	37	16	67691204	67691204	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr16:67691204C>G	ENST00000334583.6	+	37	4508	c.4180C>G	c.(4180-4182)Cca>Gca	p.P1394A	RLTPR_ENST00000545661.1_Missense_Mutation_p.P1331A	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1394	Pro-rich.				cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)		p.P1434A(1)|p.P1394A(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CGAGGCACCTCCATCCCCAAG	0.642																																						uc002etn.2																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(4180-4182)CCA>GCA		RGD motif, leucine rich repeats, tropomodulin							42.0	50.0	47.0					16																	67691204		2064	4190	6254	SO:0001583	missense	146206							g.chr16:67691204C>G	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.4180C>G	16.37:g.67691204C>G	ENSP00000334958:p.Pro1394Ala					RLTPR_uc010vjr.1_Missense_Mutation_p.P1331A	p.P1394A	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	37	4300	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	1394			Pro-rich.		B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.4180C>G	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	C	5.996	0.367606	0.11352	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.24723	1.84;2.01	4.14	0.964	0.19655	.	0.514290	0.16577	N	0.208347	T	0.14141	0.0342	N	0.19112	0.55	0.19300	N	0.99998	P;B	0.34724	0.465;0.064	B;B	0.33690	0.168;0.031	T	0.14364	-1.0475	10	0.66056	D	0.02	-9.9647	6.1903	0.20520	0.0:0.6468:0.0:0.3532	.	1331;1394	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	A	1394;1331	ENSP00000334958:P1394A;ENSP00000441481:P1331A	ENSP00000334958:P1394A	P	+	1	0	RLTPR	66248705	0.000000	0.05858	0.575000	0.28536	0.025000	0.11179	0.080000	0.14802	0.119000	0.18210	-0.657000	0.03884	CCA		PASS	0.642	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		21	26	21	26	---	---	---	---
CDH3	1001	broad.mit.edu	37	16	68732173	68732173	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr16:68732173C>G	ENST00000264012.4	+	16	2904	c.2360C>G	c.(2359-2361)tCc>tGc	p.S787C	CDH3_ENST00000581171.1_Missense_Mutation_p.S732C|CDH3_ENST00000429102.2_3'UTR	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	787	Ser-rich.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)|p.S787C(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		GGCAGCGGCTCCGACGCCGCG	0.612																																						uc002ewf.2																			3	Unknown(2)|Substitution - Missense(1)	p.?(1)	breast(2)|lung(1)	ovary(3)|breast(1)|skin(1)	5						c.(2359-2361)TCC>TGC		cadherin 3, type 1 preproprotein							93.0	93.0	93.0					16																	68732173		2198	4300	6498	SO:0001583	missense	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68732173C>G	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.2360C>G	16.37:g.68732173C>G	ENSP00000264012:p.Ser787Cys					CDH3_uc010vli.1_Missense_Mutation_p.S732C	p.S787C	NM_001793	NP_001784	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	16	3492	+		Ovarian(137;0.0564)	787			Cytoplasmic (Potential).|Ser-rich.		B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	c.2360C>G	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243227	0.79912	.	.	ENSG00000062038	ENST00000264012;ENST00000542274	D	0.82526	-1.62	5.51	5.51	0.81932	Cadherin, cytoplasmic domain (1);	0.000000	0.40144	N	0.001175	D	0.94348	0.8183	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95785	0.8820	10	0.87932	D	0	.	17.275	0.87112	0.0:1.0:0.0:0.0	.	787	P22223	CADH3_HUMAN	C	787;732	ENSP00000264012:S787C	ENSP00000264012:S787C	S	+	2	0	CDH3	67289674	1.000000	0.71417	0.963000	0.40424	0.342000	0.28953	7.729000	0.84864	2.746000	0.94184	0.655000	0.94253	TCC		PASS	0.612	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		83	105	83	105	---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77353866	77353866	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr16:77353866C>A	ENST00000282849.5	-	16	2830	c.2412G>T	c.(2410-2412)tgG>tgT	p.W804C		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	804	Spacer.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.W804C(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGTCGATGCTCCAGCCCCCGG	0.597																																						uc002ffc.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(2410-2412)TGG>TGT		ADAM metallopeptidase with thrombospondin type 1							59.0	58.0	58.0					16																	77353866		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77353866C>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2412G>T	16.37:g.77353866C>A	ENSP00000282849:p.Trp804Cys					ADAMTS18_uc010chc.1_Missense_Mutation_p.W392C|ADAMTS18_uc002ffe.1_Missense_Mutation_p.W500C	p.W804C	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			16	2831	-			804			Spacer.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.2412G>T	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382684	0.82792	.	.	ENSG00000140873	ENST00000282849	T	0.52983	0.64	5.54	5.54	0.83059	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.77909	0.4201	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.987;0.997	D	0.83744	0.0205	10	0.87932	D	0	.	18.4764	0.90793	0.0:1.0:0.0:0.0	.	804;804	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	C	804	ENSP00000282849:W804C	ENSP00000282849:W804C	W	-	3	0	ADAMTS18	75911367	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.412000	0.80091	2.618000	0.88619	0.563000	0.77884	TGG		PASS	0.597	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			39	53	39	53	---	---	---	---
OR3A1	4994	broad.mit.edu	37	17	3195189	3195189	+	Silent	SNP	G	G	T	rs563221275		TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr17:3195189G>T	ENST00000323404.1	-	1	687	c.688C>A	c.(688-690)Cga>Aga	p.R230R	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	230					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R230*(1)|p.R230R(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GAGCGAATTCGCAGGACTGCA	0.483																																					GBM(20;287 516 18743 28660 36594)	uc002fvh.1																			2	Substitution - Nonsense(1)|Substitution - coding silent(1)	p.R230*(1)	lung(1)|kidney(1)	kidney(2)|central_nervous_system(1)	3						c.(688-690)CGA>AGA		olfactory receptor, family 3, subfamily A,							62.0	59.0	60.0					17																	3195189		2203	4300	6503	SO:0001819	synonymous_variant	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195189G>T	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.688C>A	17.37:g.3195189G>T							p.R230R	NM_002550	NP_002541	P47881	OR3A1_HUMAN			1	688	-			230			Cytoplasmic (Potential).		Q4VB06|Q6IFM4	Silent	SNP	ENST00000323404.1	37	c.688C>A	CCDS11023.1																																																																																				PASS	0.483	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			11	41	11	41	---	---	---	---
SPATA22	84690	broad.mit.edu	37	17	3346530	3346530	+	Missense_Mutation	SNP	A	A	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr17:3346530A>C	ENST00000573128.1	-	8	1321	c.838T>G	c.(838-840)Tat>Gat	p.Y280D	SPATA22_ENST00000541913.1_Missense_Mutation_p.Y264D|SPATA22_ENST00000355380.4_Missense_Mutation_p.Y237D|SPATA22_ENST00000397168.3_Missense_Mutation_p.Y280D|SPATA22_ENST00000268981.5_Intron|SPATA22_ENST00000572969.1_Missense_Mutation_p.Y280D|SPATA22_ENST00000575375.1_Missense_Mutation_p.Y280D			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	280					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)		p.Y280D(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						GTCTTCGAATAATATGGGCCA	0.348																																						uc002fvm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(838-840)TAT>GAT		spermatogenesis associated 22							68.0	61.0	63.0					17																	3346530		2202	4299	6501	SO:0001583	missense	84690							g.chr17:3346530A>C	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.838T>G	17.37:g.3346530A>C	ENSP00000459580:p.Tyr280Asp					SPATA22_uc010vrg.1_Missense_Mutation_p.Y264D|SPATA22_uc010vrf.1_Intron|SPATA22_uc002fvn.2_Missense_Mutation_p.Y280D|SPATA22_uc002fvo.2_Missense_Mutation_p.Y280D|SPATA22_uc002fvp.2_Missense_Mutation_p.Y280D|SPATA22_uc010ckf.2_Missense_Mutation_p.Y237D	p.Y280D	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN			8	1075	-			280					B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	37	c.838T>G	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.004781	0.35320	.	.	ENSG00000141255	ENST00000355380;ENST00000397168;ENST00000541913	T;T;T	0.79749	-1.3;-1.3;-1.3	5.32	0.00232	0.14050	.	1.443980	0.04196	N	0.329191	T	0.63745	0.2537	N	0.14661	0.345	0.28596	N	0.909407	B;B;P	0.41848	0.231;0.358;0.763	B;B;B	0.36186	0.082;0.082;0.219	T	0.58847	-0.7564	10	0.41790	T	0.15	-27.5542	5.6897	0.17823	0.4209:0.3013:0.2777:0.0	.	264;237;280	F5GWB9;Q8NHS9-2;Q8NHS9	.;.;SPT22_HUMAN	D	237;280;264	ENSP00000347541:Y237D;ENSP00000380354:Y280D;ENSP00000441920:Y264D	ENSP00000347541:Y237D	Y	-	1	0	SPATA22	3293280	1.000000	0.71417	0.965000	0.40720	0.832000	0.47134	1.844000	0.39269	0.115000	0.18071	-0.385000	0.06624	TAT		PASS	0.348	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598		32	6	32	6	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7574017	7574017	+	Missense_Mutation	SNP	C	C	A	rs121912664		TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr17:7574017C>A	ENST00000269305.4	-	10	1199	c.1010G>T	c.(1009-1011)cGc>cTc	p.R337L	TP53_ENST00000445888.2_Missense_Mutation_p.R337L|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9452042}.|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11481490}.|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R337L(15)|p.0?(8)|p.R337H(4)|p.I332fs*5(1)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CATCTCGAAGCGCTCACGCCC	0.527		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		29	Substitution - Missense(19)|Whole gene deletion(8)|Unknown(1)|Deletion - Frameshift(1)	p.R337C(12)|p.0?(7)|p.R337L(5)|p.R337H(2)|p.?(1)|p.I332fs*5(1)	lung(8)|liver(8)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|breast(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM012663	TP53	M	rs121912664	c.(1009-1011)CGC>CTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							57.0	45.0	49.0					17																	7574017		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7574017C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1010G>T	17.37:g.7574017C>A	ENSP00000269305:p.Arg337Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.R205L|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.R337L	p.R337L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1204	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	337		R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.1010G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539589	0.45176	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.95137	-3.62;-3.62	5.43	3.45	0.39498	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.96558	0.8877	M	0.82323	2.585	0.42190	D	0.991726	D	0.65815	0.995	D	0.66716	0.946	D	0.95854	0.8877	10	0.66056	D	0.02	-7.3279	9.8868	0.41266	0.0:0.8331:0.0:0.1669	.	337	P04637	P53_HUMAN	L	337;337;326	ENSP00000269305:R337L;ENSP00000391478:R337L	ENSP00000269305:R337L	R	-	2	0	TP53	7514742	0.593000	0.26840	0.008000	0.14137	0.280000	0.26924	0.875000	0.28079	0.671000	0.31185	0.561000	0.74099	CGC		PASS	0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	3	21	3	---	---	---	---
TMEM107	84314	broad.mit.edu	37	17	8079165	8079165	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr17:8079165C>A	ENST00000437139.2	-	3	253	c.166G>T	c.(166-168)Gcg>Tcg	p.A56S	RP11-599B13.7_ENST00000581248.1_lincRNA|TMEM107_ENST00000533070.1_Missense_Mutation_p.A62S|TMEM107_ENST00000532998.1_Missense_Mutation_p.A56S|TMEM107_ENST00000316425.5_Missense_Mutation_p.A62S|TMEM107_ENST00000449985.2_Intron|SNORD118_ENST00000363593.1_RNA|TMEM107_ENST00000431792.2_Intron	NM_183065.2	NP_898888.1	Q6UX40	TM107_HUMAN	transmembrane protein 107	56					cilium assembly (GO:0042384)|embryonic digit morphogenesis (GO:0042733)|neural tube patterning (GO:0021532)	integral component of membrane (GO:0016021)		p.A62S(1)		large_intestine(1)|lung(4)|ovary(1)	6						ACAGAGAGCGCGGCCACCAGC	0.597																																						uc002gkg.3																			1	Substitution - Missense(1)		lung(1)		0						c.(166-168)GCG>TCG		transmembrane protein 107 isoform 2							81.0	86.0	85.0					17																	8079165		2203	4300	6503	SO:0001583	missense	84314					integral to membrane		g.chr17:8079165C>A	AF311338	CCDS11132.1, CCDS45607.1	17p13.1	2005-12-19				ENSG00000179029			28128	protein-coding gene	gene with protein product						12477932	Standard	NM_032354		Approved	MGC10744	uc002gkh.4	Q6UX40		ENST00000437139.2:c.166G>T	17.37:g.8079165C>A	ENSP00000402732:p.Ala56Ser					TMEM107_uc002gkh.3_Missense_Mutation_p.A62S|TMEM107_uc002gki.3_Missense_Mutation_p.A62S|TMEM107_uc002gkj.3_Intron|TMEM107_uc002gkk.2_Missense_Mutation_p.A56S	p.A56S	NM_183065	NP_898888	Q6UX40	TM107_HUMAN			3	276	-			56			Helical; (Potential).		A0PJV7|Q6NSE3|Q6ZRX9|Q96T82	Missense_Mutation	SNP	ENST00000437139.2	37	c.166G>T	CCDS45607.1	.	.	.	.	.	.	.	.	.	.	C	36	5.894079	0.97074	.	.	ENSG00000179029	ENST00000532998;ENST00000437139;ENST00000533070;ENST00000316425	.	.	.	5.75	5.75	0.90469	.	0.000000	0.56097	U	0.000026	T	0.75019	0.3793	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.997;0.997	T	0.72766	-0.4194	9	0.41790	T	0.15	.	17.4303	0.87537	0.0:1.0:0.0:0.0	.	56;62;62;56	B3KNL7;Q6UX40-3;Q6UX40-4;Q6UX40	.;.;.;TM107_HUMAN	S	56;56;62;62	.	ENSP00000314116:A62S	A	-	1	0	TMEM107	8019890	1.000000	0.71417	0.187000	0.23214	0.809000	0.45718	6.702000	0.74628	2.715000	0.92844	0.551000	0.68910	GCG		PASS	0.597	TMEM107-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388844.1	NM_032354		60	9	60	9	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18054736	18054736	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr17:18054736A>G	ENST00000205890.5	+	40	8020	c.7682A>G	c.(7681-7683)tAc>tGc	p.Y2561C	MYO15A_ENST00000418233.3_5'Flank|MYO15A_ENST00000585180.1_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2561	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.Y2561C(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTGGTCCGGTACTCTACGCTC	0.637																																						uc010vxh.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(7681-7683)TAC>TGC		myosin XV							69.0	75.0	73.0					17																	18054736		2093	4222	6315	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18054736A>G	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7682A>G	17.37:g.18054736A>G	ENSP00000205890:p.Tyr2561Cys					MYO15A_uc010vxi.1_5'Flank|MYO15A_uc010vxj.1_5'Flank|MYO15A_uc010vxk.1_5'Flank	p.Y2561C	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			39	8020	+	all_neural(463;0.228)		2561			Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.7682A>G	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.583161	0.46006	.	.	ENSG00000091536	ENST00000205890	D	0.87966	-2.32	5.25	4.15	0.48705	.	.	.	.	.	D	0.83339	0.5233	L	0.36672	1.1	0.80722	D	1	D	0.60575	0.988	P	0.46975	0.533	T	0.82047	-0.0651	9	0.44086	T	0.13	.	12.2026	0.54335	0.8568:0.1431:0.0:0.0	.	2561	Q9UKN7	MYO15_HUMAN	C	2561	ENSP00000205890:Y2561C	ENSP00000205890:Y2561C	Y	+	2	0	MYO15A	17995461	0.355000	0.24921	0.544000	0.28141	0.864000	0.49448	2.417000	0.44653	0.917000	0.36895	0.533000	0.62120	TAC		PASS	0.637	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		61	11	61	11	---	---	---	---
SRCIN1	80725	broad.mit.edu	37	17	36714598	36714598	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr17:36714598G>T	ENST00000264659.7	-	11	2290	c.2066C>A	c.(2065-2067)aCg>aAg	p.T689K	SRCIN1_ENST00000578925.1_Missense_Mutation_p.T723K|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	561					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)	p.T689K(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CTCTGCCTCCGTGCGCTTCAG	0.721											OREG0024362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002hqd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2065-2067)ACG>AAG		SNAP25-interacting protein							19.0	20.0	20.0					17																	36714598		2074	4199	6273	SO:0001583	missense	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36714598G>T		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2066C>A	17.37:g.36714598G>T	ENSP00000264659:p.Thr689Lys		OREG0024362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	865	SRCIN1_uc002hqf.1_Missense_Mutation_p.T561K|SRCIN1_uc002hqe.2_Missense_Mutation_p.T543K|SRCIN1_uc002hqg.2_5'UTR	p.T689K	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN			11	2291	-			561			Interaction with SNAP25 (By similarity).		Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	c.2066C>A	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031091	0.93575	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.52057	0.68	4.91	3.93	0.45458	.	0.051665	0.85682	N	0.000000	T	0.64746	0.2626	M	0.62723	1.935	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.67711	-0.5600	10	0.72032	D	0.01	-20.712	13.4204	0.60994	0.0:0.0:0.8414:0.1586	.	561;561;689	Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;SRCN1_HUMAN;.	K	689;470;543	ENSP00000264659:T689K	ENSP00000264659:T689K	T	-	2	0	SRCIN1	33968124	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	9.321000	0.96353	1.036000	0.39998	0.462000	0.41574	ACG		PASS	0.721	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		18	42	18	42	---	---	---	---
NPEPPS	9520	broad.mit.edu	37	17	45668111	45668111	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr17:45668111A>T	ENST00000322157.4	+	10	1361	c.1124A>T	c.(1123-1125)gAa>gTa	p.E375V	NPEPPS_ENST00000530173.1_Missense_Mutation_p.E371V|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Missense_Mutation_p.E295V	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	375					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E375V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TGGTTAAATGAAGGTTTTGCA	0.363																																						uc002ilr.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1123-1125)GAA>GTA		aminopeptidase puromycin sensitive							72.0	66.0	68.0					17																	45668111		1812	4071	5883	SO:0001583	missense	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45668111A>T	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.1124A>T	17.37:g.45668111A>T	ENSP00000320324:p.Glu375Val					NPEPPS_uc010wkt.1_Missense_Mutation_p.E371V|NPEPPS_uc010wku.1_Missense_Mutation_p.E339V|NPEPPS_uc010wkv.1_5'UTR	p.E375V	NM_006310	NP_006301	P55786	PSA_HUMAN			10	1347	+			375				Zinc; catalytic (By similarity).	B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	c.1124A>T	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.739355	0.89573	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660;ENST00000527964;ENST00000527360	T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77	5.75	5.75	0.90469	Peptidase M1, membrane alanine aminopeptidase, N-terminal (4);	0.000000	0.85682	D	0.000000	T	0.71178	0.3309	H	0.99525	4.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84965	0.0879	10	0.87932	D	0	.	16.0345	0.80612	1.0:0.0:0.0:0.0	.	375;371;375	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	V	371;375;362;295;58;72	ENSP00000433287:E371V;ENSP00000320324:E375V;ENSP00000442461:E295V;ENSP00000435639:E58V;ENSP00000435966:E72V	ENSP00000320324:E375V	E	+	2	0	NPEPPS	43023110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.194000	0.94962	2.183000	0.69458	0.482000	0.46254	GAA		PASS	0.363	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		9	189	9	189	---	---	---	---
HOXB4	3214	broad.mit.edu	37	17	46657302	46657302	+	5'UTR	SNP	G	G	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr17:46657302G>C	ENST00000332503.5	-	0	171				HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000498678.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000465120.3_5'Flank|MIR10A_ENST00000385043.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000489475.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4						anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						ACAGAAGACAGACAGATCTTC	0.413																																						hsa-mir-10a|MI0000266																			0					0															72.0	69.0	70.0					17																	46657302		1568	3581	5149	SO:0001623	5_prime_UTR_variant	406902							g.chr17:46657302G>C		CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"""Homeoboxes / ANTP class : HOXL subclass"""	5115	protein-coding gene	gene with protein product		142965	"""homeo box B4"""	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.-1621C>G	17.37:g.46657302G>C						HOXB3_uc010wlm.1_Intron|HOXB3_uc010dbf.2_Intron|HOXB3_uc010dbg.2_Intron|HOXB3_uc010wll.1_Intron|HOXB4_uc002inp.2_5'Flank|uc002inq.3_RNA										-								Q9NTA0	RNA	SNP	ENST00000332503.5	37	c.8G>C	CCDS11529.1																																																																																				PASS	0.413	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358259.2			26	63	26	63	---	---	---	---
LUC7L3	51747	broad.mit.edu	37	17	48818594	48818594	+	Missense_Mutation	SNP	A	A	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr17:48818594A>C	ENST00000505658.1	+	4	527	c.338A>C	c.(337-339)cAg>cCg	p.Q113P	LUC7L3_ENST00000240304.1_Missense_Mutation_p.Q113P|LUC7L3_ENST00000544170.1_Missense_Mutation_p.Q37P|LUC7L3_ENST00000393227.2_Missense_Mutation_p.Q113P			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	113					mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.Q113P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						TCTCAAAACCAGCAGTCTTCT	0.418																																						uc002isr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(337-339)CAG>CCG		LUC7-like 3							112.0	104.0	107.0					17																	48818594		2203	4300	6503	SO:0001583	missense	51747				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding	g.chr17:48818594A>C		CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"""cisplatin resistance associated overexpressed protein"", ""CRE-associated protein"""	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.338A>C	17.37:g.48818594A>C	ENSP00000425092:p.Gln113Pro					LUC7L3_uc002isp.1_Missense_Mutation_p.Q37P|LUC7L3_uc010wmw.1_Missense_Mutation_p.Q37P|LUC7L3_uc002isq.2_Missense_Mutation_p.Q113P|LUC7L3_uc002iss.2_Missense_Mutation_p.Q113P	p.Q113P	NM_006107	NP_006098	O95232	LC7L3_HUMAN			4	455	+			113					B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Missense_Mutation	SNP	ENST00000505658.1	37	c.338A>C	CCDS11573.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.838960	0.51057	.	.	ENSG00000108848	ENST00000505658;ENST00000393227;ENST00000240304;ENST00000542316;ENST00000505619;ENST00000544170	T;T;T;T;T	0.45276	1.57;1.57;1.57;0.9;0.92	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.53029	0.1771	L	0.32530	0.975	0.80722	D	1	P;D;D	0.65815	0.834;0.982;0.995	B;P;D	0.63703	0.343;0.815;0.917	T	0.54603	-0.8269	10	0.62326	D	0.03	-11.8407	16.4069	0.83677	1.0:0.0:0.0:0.0	.	37;113;113	B4DJ96;O95232;A8K3C5	.;LC7L3_HUMAN;.	P	113;113;113;113;162;37	ENSP00000425092:Q113P;ENSP00000376919:Q113P;ENSP00000240304:Q113P;ENSP00000420933:Q162P;ENSP00000444253:Q37P	ENSP00000240304:Q113P	Q	+	2	0	LUC7L3	46173593	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.521000	0.81832	2.272000	0.75746	0.460000	0.39030	CAG		PASS	0.418	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368205.2	NM_016424		45	112	45	112	---	---	---	---
WFIKKN2	124857	broad.mit.edu	37	17	48916920	48916920	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr17:48916920G>T	ENST00000311378.4	+	2	799	c.271G>T	c.(271-273)Gcc>Tcc	p.A91S	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_5'UTR	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	91	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A91S(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CTGCGTGGCGGCCCGCTACAT	0.582																																						uc002isv.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(271-273)GCC>TCC		WFIKKN2 protein							47.0	48.0	48.0					17																	48916920		2203	4300	6503	SO:0001583	missense	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48916920G>T	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.271G>T	17.37:g.48916920G>T	ENSP00000311184:p.Ala91Ser					WFIKKN2_uc010dbu.2_5'UTR	p.A91S	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	965	+			91			WAP.		Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	c.271G>T	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750377	0.69533	.	.	ENSG00000173714	ENST00000311378	D	0.83163	-1.69	5.53	5.53	0.82687	Whey acidic protein, 4-disulphide core (3);	0.058157	0.64402	D	0.000002	D	0.87989	0.6317	L	0.54323	1.7	0.80722	D	1	P	0.51057	0.941	P	0.57911	0.829	D	0.86723	0.1943	10	0.41790	T	0.15	.	19.4998	0.95089	0.0:0.0:1.0:0.0	.	91	Q8TEU8	WFKN2_HUMAN	S	91	ENSP00000311184:A91S	ENSP00000311184:A91S	A	+	1	0	WFIKKN2	46271919	1.000000	0.71417	0.963000	0.40424	0.972000	0.66771	7.953000	0.87836	2.593000	0.87608	0.645000	0.84053	GCC		PASS	0.582	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		55	31	55	31	---	---	---	---
ANKFN1	162282	broad.mit.edu	37	17	54558135	54558135	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr17:54558135G>T	ENST00000318698.2	+	16	2091	c.2056G>T	c.(2056-2058)Gca>Tca	p.A686S	ANKFN1_ENST00000566473.2_Missense_Mutation_p.A686S	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	686								p.A686S(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GCTCCAGATGGCAGTGAAAGC	0.418																																						uc002iun.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(2056-2058)GCA>TCA		ankyrin-repeat and fibronectin type III domain							204.0	199.0	201.0					17																	54558135		2203	4300	6503	SO:0001583	missense	162282							g.chr17:54558135G>T	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.2056G>T	17.37:g.54558135G>T	ENSP00000321627:p.Ala686Ser						p.A686S	NM_153228	NP_694960	Q8N957	ANKF1_HUMAN			16	2091	+			686						Missense_Mutation	SNP	ENST00000318698.2	37	c.2056G>T	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026455	0.54683	.	.	ENSG00000153930	ENST00000318698	T	0.51071	0.72	5.37	5.37	0.77165	.	0.049229	0.85682	D	0.000000	T	0.58438	0.2122	M	0.85041	2.73	0.58432	D	0.999999	P	0.48503	0.911	B	0.42282	0.382	T	0.69903	-0.5019	10	0.87932	D	0	-11.2207	19.109	0.93309	0.0:0.0:1.0:0.0	.	686	Q8N957	ANKF1_HUMAN	S	686	ENSP00000321627:A686S	ENSP00000321627:A686S	A	+	1	0	ANKFN1	51913134	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.197000	0.77814	2.496000	0.84212	0.655000	0.94253	GCA		PASS	0.418	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		321	232	321	232	---	---	---	---
OR4D2	124538	broad.mit.edu	37	17	56247272	56247272	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr17:56247272C>G	ENST00000545221.1	+	1	256	c.256C>G	c.(256-258)Ctc>Gtc	p.L86V		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L86V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						AGTGGACCTCCTCTCTGAGAA	0.507																																						uc010wnp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(256-258)CTC>GTC		olfactory receptor, family 4, subfamily D,							136.0	125.0	129.0					17																	56247272		2203	4300	6503	SO:0001583	missense	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247272C>G		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.256C>G	17.37:g.56247272C>G	ENSP00000441354:p.Leu86Val						p.L86V	NM_001004707	NP_001004707	P58180	OR4D2_HUMAN			1	256	+			86			Extracellular (Potential).		Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	c.256C>G	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	C	3.539	-0.094064	0.07053	.	.	ENSG00000255713	ENST00000545221	T	0.00532	6.75	5.71	0.0689	0.14371	GPCR, rhodopsin-like superfamily (1);	0.140736	0.32819	N	0.005611	T	0.00440	0.0014	L	0.39020	1.185	0.09310	N	1	B	0.24043	0.096	B	0.20767	0.031	T	0.48433	-0.9036	10	0.62326	D	0.03	-7.3735	5.5117	0.16884	0.0:0.4872:0.1325:0.3803	.	86	P58180	OR4D2_HUMAN	V	86	ENSP00000441354:L86V	ENSP00000441354:L86V	L	+	1	0	OR4D2	53602271	0.000000	0.05858	0.103000	0.21229	0.091000	0.18340	-0.373000	0.07494	-0.092000	0.12417	-0.320000	0.08662	CTC		PASS	0.507	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			221	122	221	122	---	---	---	---
AXIN2	8313	broad.mit.edu	37	17	63554499	63554499	+	Silent	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr17:63554499C>T	ENST00000375702.5	-	1	348	c.240G>A	c.(238-240)aaG>aaA	p.K80K	AXIN2_ENST00000307078.5_Silent_p.K80K|CTD-2535L24.2_ENST00000577662.1_3'UTR			Q9Y2T1	AXIN2_HUMAN	axin 2	80					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.K80K(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						AGTGTAAGGACTTGGTCCACC	0.567									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													uc002jfi.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(238-240)AAG>AAA		axin 2							109.0	106.0	107.0					17																	63554499		2203	4300	6503	SO:0001819	synonymous_variant	8313	Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63554499C>T	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.240G>A	17.37:g.63554499C>T						AXIN2_uc010den.1_Silent_p.K80K|AXIN2_uc002jfh.2_Silent_p.K80K|AXIN2_uc002jfj.1_Silent_p.K80K	p.K80K	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN			2	529	-			80					Q3MJ88|Q9H3M6|Q9UH84	Silent	SNP	ENST00000375702.5	37	c.240G>A																																																																																					PASS	0.567	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		70	183	70	183	---	---	---	---
AXIN2	8313	broad.mit.edu	37	17	63554581	63554581	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr17:63554581G>C	ENST00000375702.5	-	1	266	c.158C>G	c.(157-159)tCc>tGc	p.S53C	AXIN2_ENST00000307078.5_Missense_Mutation_p.S53C|CTD-2535L24.2_ENST00000577662.1_3'UTR			Q9Y2T1	AXIN2_HUMAN	axin 2	53				QPGVGKGQVTKPMSVSSNTRRNEDGL -> HHGGQGPGHQT HVCLFQHQAERRWV (in Ref. 2; AAF22799). {ECO:0000305}.	bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.S53C(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CCTGGTGTTGGAAGAGACAGG	0.652									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													uc002jfi.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(157-159)TCC>TGC		axin 2							55.0	57.0	56.0					17																	63554581		2203	4300	6503	SO:0001583	missense	8313	Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63554581G>C	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.158C>G	17.37:g.63554581G>C	ENSP00000364854:p.Ser53Cys					AXIN2_uc010den.1_Missense_Mutation_p.S53C|AXIN2_uc002jfh.2_Missense_Mutation_p.S53C|AXIN2_uc002jfj.1_Missense_Mutation_p.S53C	p.S53C	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN			2	447	-			53	QPGVGKGQVTKPMSVSSNTRRNEDGL -> HHGGQGPGHQT HVCLFQHQAERRWV (in Ref. 2; AAF22799).				Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37	c.158C>G		.	.	.	.	.	.	.	.	.	.	G	2.323	-0.355151	0.05138	.	.	ENSG00000168646	ENST00000307078;ENST00000544103;ENST00000375702	T;T;T	0.80123	-0.32;-1.34;-0.31	4.74	3.75	0.43078	.	0.470735	0.22045	N	0.065396	D	0.84000	0.5376	L	0.56769	1.78	0.53005	D	0.999969	D;D;B	0.61080	0.989;0.977;0.011	P;P;B	0.55545	0.778;0.687;0.025	D	0.84887	0.0834	10	0.72032	D	0.01	-15.0478	13.0704	0.59057	0.0:0.0:0.8376:0.1624	.	53;53;53	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	C	53	ENSP00000302625:S53C;ENSP00000441151:S53C;ENSP00000364854:S53C	ENSP00000302625:S53C	S	-	2	0	AXIN2	60985043	1.000000	0.71417	0.259000	0.24435	0.254000	0.26022	6.601000	0.74136	0.948000	0.37687	0.561000	0.74099	TCC		PASS	0.652	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		47	159	47	159	---	---	---	---
CEP112	201134	broad.mit.edu	37	17	63898350	63898350	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr17:63898350C>T	ENST00000392769.2	-	20	2301	c.2083G>A	c.(2083-2085)Gaa>Aaa	p.E695K	CEP112_ENST00000541355.1_Missense_Mutation_p.E330K|CEP112_ENST00000537949.1_Missense_Mutation_p.E653K|CEP112_ENST00000535342.2_Missense_Mutation_p.E695K	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	695					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)		p.E695K(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TCCAGGTTTTCAATTTCCCGT	0.438																																						uc002jfl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2083-2085)GAA>AAA		coiled-coil domain containing 46 isoform a							190.0	158.0	169.0					17																	63898350		2203	4300	6503	SO:0001583	missense	201134					centrosome		g.chr17:63898350C>T	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2083G>A	17.37:g.63898350C>T	ENSP00000376522:p.Glu695Lys					CCDC46_uc010deo.2_Missense_Mutation_p.E437K|CCDC46_uc002jfm.2_Missense_Mutation_p.E695K|CCDC46_uc010dep.2_Missense_Mutation_p.E653K	p.E695K	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.53e-06)		20	2302	-			695			Potential.		Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	c.2083G>A	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129842	0.56721	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949	T;T;T;T	0.52754	0.66;0.66;0.65;0.65	5.84	5.84	0.93424	.	0.268461	0.38272	N	0.001751	T	0.50240	0.1604	L	0.47716	1.5	0.47214	D	0.99935	P;B;P	0.39480	0.675;0.449;0.675	B;B;B	0.41813	0.367;0.26;0.367	T	0.48479	-0.9032	10	0.52906	T	0.07	-7.0498	20.1535	0.98095	0.0:1.0:0.0:0.0	.	653;653;695	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	K	695;695;330;653	ENSP00000442784:E695K;ENSP00000376522:E695K;ENSP00000443711:E330K;ENSP00000440775:E653K	ENSP00000376522:E695K	E	-	1	0	CEP112	61328812	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.623000	0.67757	2.764000	0.94973	0.650000	0.86243	GAA		PASS	0.438	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		139	92	139	92	---	---	---	---
BPTF	2186	broad.mit.edu	37	17	65914834	65914834	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr17:65914834A>G	ENST00000321892.4	+	14	5747	c.5686A>G	c.(5686-5688)Aga>Gga	p.R1896G	BPTF_ENST00000424123.3_Missense_Mutation_p.R1757G|BPTF_ENST00000306378.6_Missense_Mutation_p.R1770G|BPTF_ENST00000335221.5_Missense_Mutation_p.R1896G			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1896					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R1770G(1)|p.R1896G(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTCAGGTATAGACTTCAGAC	0.413																																						uc002jgf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(5308-5310)AGA>GGA		bromodomain PHD finger transcription factor							143.0	140.0	141.0					17																	65914834		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65914834A>G	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5686A>G	17.37:g.65914834A>G	ENSP00000315454:p.Arg1896Gly					BPTF_uc002jge.2_Missense_Mutation_p.R1896G	p.R1770G	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		12	5369	+	all_cancers(12;6e-11)		1896					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.5308A>G		.	.	.	.	.	.	.	.	.	.	A	16.21	3.060050	0.55325	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.74209	-0.8;-0.82;-0.8	5.57	5.57	0.84162	.	.	.	.	.	D	0.84147	0.5408	M	0.71036	2.16	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.83275	0.996;0.99	D	0.85761	0.1349	9	0.87932	D	0	-15.9191	11.291	0.49250	0.7227:0.2773:0.0:0.0	.	1770;1896	Q12830-2;Q12830-4	.;.	G	1770;1896;1896	ENSP00000307208:R1770G;ENSP00000334351:R1896G;ENSP00000315454:R1896G	ENSP00000307208:R1770G	R	+	1	2	BPTF	63345296	1.000000	0.71417	0.996000	0.52242	0.913000	0.54294	5.412000	0.66392	2.113000	0.64589	0.533000	0.62120	AGA		PASS	0.413	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		62	171	62	171	---	---	---	---
BAIAP2	10458	broad.mit.edu	37	17	79080670	79080670	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr17:79080670A>T	ENST00000321300.6	+	12	1556	c.1463A>T	c.(1462-1464)cAg>cTg	p.Q488L	BAIAP2_ENST00000435091.3_Missense_Mutation_p.Q488L|BAIAP2_ENST00000392411.3_Missense_Mutation_p.Q410L|BAIAP2_ENST00000321280.7_Missense_Mutation_p.Q488L|BAIAP2_ENST00000428708.2_Missense_Mutation_p.Q488L|BAIAP2_ENST00000575245.1_Missense_Mutation_p.Q521L|BAIAP2_ENST00000416299.2_Missense_Mutation_p.Q351L|BAIAP2_ENST00000575712.1_Missense_Mutation_p.Q488L	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	488					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)	p.Q488L(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GGCTTCAAGCAGAGGCCCTAC	0.721																																						uc002jzg.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1462-1464)CAG>CTG		BAI1-associated protein 2 isoform 2							21.0	22.0	22.0					17																	79080670		2184	4296	6480	SO:0001583	missense	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79080670A>T	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.1463A>T	17.37:g.79080670A>T	ENSP00000316338:p.Gln488Leu					BAIAP2_uc002jyz.3_Missense_Mutation_p.Q488L|BAIAP2_uc002jza.2_Missense_Mutation_p.Q488L|BAIAP2_uc002jzc.2_Missense_Mutation_p.Q489L|BAIAP2_uc002jzb.2_Missense_Mutation_p.Q245L|BAIAP2_uc002jzd.2_Missense_Mutation_p.Q488L|BAIAP2_uc002jzf.2_Missense_Mutation_p.Q488L|BAIAP2_uc002jze.2_Missense_Mutation_p.Q521L|BAIAP2_uc010wuh.1_Missense_Mutation_p.Q410L|BAIAP2_uc002jzh.2_Missense_Mutation_p.Q489L|BAIAP2_uc010wui.1_Missense_Mutation_p.Q351L	p.Q488L	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		12	1571	+	all_neural(118;0.101)		488					O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	ENST00000321300.6	37	c.1463A>T	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.676422	0.29783	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411;ENST00000416299	T;T;T;T;T;T	0.34072	1.84;1.85;1.4;1.4;1.86;1.38	4.78	4.78	0.61160	.	0.292453	0.34002	N	0.004346	T	0.34193	0.0889	L	0.47190	1.495	0.39323	D	0.965278	P;P;P;B;P;B;B;B;P	0.44627	0.736;0.73;0.839;0.258;0.515;0.328;0.374;0.374;0.515	B;B;P;B;B;B;B;B;B	0.44394	0.354;0.359;0.448;0.103;0.208;0.157;0.208;0.208;0.208	T	0.16070	-1.0415	10	0.39692	T	0.17	-27.4715	9.6702	0.40008	0.8249:0.1751:0.0:0.0	.	351;410;489;488;488;488;488;489;488	B4DWA1;F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;.;BAIP2_HUMAN;.;.;.;.;.	L	488;488;488;488;410;351	ENSP00000316338:Q488L;ENSP00000401022:Q488L;ENSP00000413069:Q488L;ENSP00000315685:Q488L;ENSP00000376211:Q410L;ENSP00000391837:Q351L	ENSP00000315685:Q488L	Q	+	2	0	BAIAP2	76695265	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	1.867000	0.39499	1.811000	0.52892	0.248000	0.18094	CAG		PASS	0.721	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			27	7	27	7	---	---	---	---
ENTHD2	146705	broad.mit.edu	37	17	79207258	79207258	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr17:79207258C>A	ENST00000300714.3	-	7	557	c.500G>T	c.(499-501)gGc>gTc	p.G167V	AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000374769.2_Missense_Mutation_p.G15V|AC027601.1_ENST00000569559.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	167						cytoplasmic vesicle (GO:0031410)		p.G167V(1)									CTTGCTGTAGCCGAAACCCTG	0.697																																						uc002jzu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(499-501)GGC>GTC		hypothetical protein LOC146705							48.0	45.0	46.0					17																	79207258		2203	4300	6503	SO:0001583	missense	146705					integral to membrane		g.chr17:79207258C>A	AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 56"""	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.500G>T	17.37:g.79207258C>A	ENSP00000300714:p.Gly167Val					C17orf56_uc002jzr.1_5'Flank|C17orf56_uc002jzs.1_Missense_Mutation_p.G15V|C17orf56_uc002jzt.1_Missense_Mutation_p.G15V|C17orf56_uc002jzv.1_Missense_Mutation_p.G15V|uc002jzw.1_RNA	p.G167V	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		7	522	-	all_neural(118;0.0804)|Melanoma(429;0.242)		167					Q6ZQU0|Q6ZSQ9	Missense_Mutation	SNP	ENST00000300714.3	37	c.500G>T	CCDS11779.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959265	0.53400	.	.	ENSG00000167302	ENST00000300714;ENST00000374769	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.75243	0.3823	M	0.79475	2.455	0.58432	D	0.999999	D;D	0.89917	1.0;0.987	D;P	0.91635	0.999;0.871	T	0.73353	-0.4009	9	0.26408	T	0.33	-33.6381	9.2141	0.37337	0.1468:0.7747:0.0:0.0786	.	167;15	Q96N21;Q96N21-2	CQ056_HUMAN;.	V	167;15	.	ENSP00000300714:G167V	G	-	2	0	C17orf56	76821853	0.999000	0.42202	0.997000	0.53966	0.489000	0.33432	4.844000	0.62846	2.245000	0.73994	0.462000	0.41574	GGC		PASS	0.697	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439315.1	NM_144679		19	44	19	44	---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5424262	5424262	+	Splice_Site	SNP	T	T	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr18:5424262T>A	ENST00000341928.2	-	10	1502	c.1162A>T	c.(1162-1164)Aga>Tga	p.R388*	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Splice_Site_p.R388*|EPB41L3_ENST00000540638.2_Splice_Site_p.R388*|EPB41L3_ENST00000544123.1_Splice_Site_p.R388*|EPB41L3_ENST00000400111.3_Splice_Site_p.R388*	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	388	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.R388*(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCTTCCTACCTGAAAAATGTA	0.308																																						uc002kmt.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)	5						c.(1162-1164)AGA>TGA		erythrocyte membrane protein band 4.1-like 3							118.0	125.0	123.0					18																	5424262		2203	4300	6503	SO:0001630	splice_region_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5424262T>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1163+1A>T	18.37:g.5424262T>A						EPB41L3_uc010wzh.1_Nonsense_Mutation_p.R388*|EPB41L3_uc002kmu.1_Nonsense_Mutation_p.R388*|EPB41L3_uc010dkq.1_Nonsense_Mutation_p.R279*|EPB41L3_uc010dkr.2_5'Flank	p.R388*	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			10	1248	-			388			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Nonsense_Mutation	SNP	ENST00000341928.2	37	c.1162A>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	41	8.846029	0.98976	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	.	.	.	6.06	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.53	0.61617	0.0:0.0:0.1302:0.8698	.	.	.	.	X	388;279;388;279;388;388	.	ENSP00000343158:R388X	R	-	1	2	EPB41L3	5414262	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.284000	0.72652	1.088000	0.41272	-0.332000	0.08345	AGA		PASS	0.308	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	Nonsense_Mutation	95	148	95	148	---	---	---	---
SLC14A2	8170	broad.mit.edu	37	18	43243838	43243838	+	Silent	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr18:43243838C>T	ENST00000255226.6	+	11	2256	c.1440C>T	c.(1438-1440)caC>caT	p.H480H	SLC14A2_ENST00000586448.1_Silent_p.H480H|SLC14A2_ENST00000589658.1_5'Flank	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	480					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.H480H(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGTATTTCACATCGAGTGGT	0.582																																						uc010dnj.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(1438-1440)CAC>CAT		solute carrier family 14 (urea transporter),							110.0	71.0	84.0					18																	43243838		2203	4300	6503	SO:0001819	synonymous_variant	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43243838C>T	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1440C>T	18.37:g.43243838C>T						SLC14A2_uc002lbe.2_Silent_p.H480H	p.H480H	NM_007163	NP_009094	Q15849	UT2_HUMAN			12	1761	+			480					A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	c.1440C>T	CCDS11924.1																																																																																				PASS	0.582	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			23	31	23	31	---	---	---	---
EPG5	57724	broad.mit.edu	37	18	43502326	43502326	+	Missense_Mutation	SNP	T	T	C	rs200114829	byFrequency	TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr18:43502326T>C	ENST00000282041.5	-	16	3113	c.3079A>G	c.(3079-3081)Atg>Gtg	p.M1027V		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1027					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.M1027V(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ACAGCTGTCATAGATAAGGCT	0.483													T|||	3	0.000599042	0.0023	0.0	5008	,	,		18783	0.0		0.0	False		,,,				2504	0.0					uc002lbm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3079-3081)ATG>GTG		hypothetical protein LOC57724		T	VAL/MET	9,3923		0,9,1957	76.0	75.0	75.0		3079	4.3	1.0	18		75	0,8324		0,0,4162	yes	missense	EPG5	NM_020964.2	21	0,9,6119	CC,CT,TT		0.0,0.2289,0.0734	benign	1027/2580	43502326	9,12247	1966	4162	6128	SO:0001583	missense	57724				autophagy			g.chr18:43502326T>C	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.3079A>G	18.37:g.43502326T>C	ENSP00000282041:p.Met1027Val					KIAA1632_uc002lbo.1_Missense_Mutation_p.M1027V	p.M1027V	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			16	3179	-			1027					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.3079A>G	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	12.17	1.858223	0.32791	0.002289	0.0	ENSG00000152223	ENST00000282041	T	0.10860	2.83	5.46	4.3	0.51218	.	0.144833	0.64402	D	0.000016	T	0.05593	0.0147	N	0.11255	0.115	0.42382	D	0.992491	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.37009	-0.9724	10	0.30078	T	0.28	-15.576	7.9428	0.29969	0.0:0.1605:0.0:0.8395	.	1027;1027	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	V	1027	ENSP00000282041:M1027V	ENSP00000282041:M1027V	M	-	1	0	EPG5	41756324	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.258000	0.58822	0.925000	0.37094	0.379000	0.24179	ATG		PASS	0.483	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		38	33	38	33	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74622624	74622624	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr18:74622624G>T	ENST00000253159.8	+	16	2854	c.2656G>T	c.(2656-2658)Gtg>Ttg	p.V886L	ZNF236_ENST00000320610.9_Missense_Mutation_p.V888L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	886					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V886L(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGGTTTTACAGTGACTGATAC	0.363																																						uc002lmi.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(2656-2658)GTG>TTG		zinc finger protein 236							70.0	66.0	67.0					18																	74622624		1885	4101	5986	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74622624G>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2656G>T	18.37:g.74622624G>T	ENSP00000253159:p.Val886Leu					ZNF236_uc002lmj.2_RNA	p.V886L	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	16	2854	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	886					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.2656G>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492663	0.26774	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.10477	2.87;3.05	4.78	4.78	0.61160	.	0.216625	0.39985	N	0.001213	T	0.12860	0.0312	L	0.60455	1.87	0.43913	D	0.996552	B	0.23316	0.083	B	0.18561	0.022	T	0.10451	-1.0629	10	0.09338	T	0.73	.	18.1957	0.89820	0.0:0.0:1.0:0.0	.	886	Q9UL36	ZN236_HUMAN	L	886	ENSP00000253159:V886L;ENSP00000444524:V886L	ENSP00000253159:V886L	V	+	1	0	ZNF236	72751612	1.000000	0.71417	0.985000	0.45067	0.908000	0.53690	6.020000	0.70826	2.345000	0.79718	0.467000	0.42956	GTG		PASS	0.363	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			47	74	47	74	---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76752207	76752207	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr18:76752207C>A	ENST00000537592.2	+	2	216	c.216C>A	c.(214-216)agC>agA	p.S72R	SALL3_ENST00000575389.2_Missense_Mutation_p.S72R|SALL3_ENST00000536229.3_5'UTR	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	72					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S72R(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACCAGCGGAGCTGCACCAAGC	0.726																																						uc002lmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(214-216)AGC>AGA		sal-like 3							29.0	32.0	31.0					18																	76752207		2197	4299	6496	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76752207C>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.216C>A	18.37:g.76752207C>A	ENSP00000441823:p.Ser72Arg					SALL3_uc010dra.2_5'Flank	p.S72R	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	216	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	72					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.216C>A	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	9.102	1.004303	0.19199	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.48522	0.81	4.63	3.73	0.42828	.	1.000770	0.08063	N	0.998588	T	0.37019	0.0988	L	0.32530	0.975	0.80722	D	1	B	0.24823	0.112	B	0.22386	0.039	T	0.44436	-0.9328	10	0.72032	D	0.01	-9.1634	6.4811	0.22063	0.1562:0.6941:0.0:0.1497	.	72	Q9BXA9	SALL3_HUMAN	R	72	ENSP00000441823:S72R	ENSP00000299466:S72R	S	+	3	2	SALL3	74853195	0.550000	0.26489	0.948000	0.38648	0.083000	0.17756	0.617000	0.24359	2.301000	0.77427	0.561000	0.74099	AGC		PASS	0.726	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		11	25	11	25	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9089943	9089943	+	Silent	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr19:9089943G>T	ENST00000397910.4	-	1	2075	c.1872C>A	c.(1870-1872)acC>acA	p.T624T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	624	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T624T(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAGTAGGTGGGTTGTGCCCT	0.572																																						uc002mkp.2																			2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(1870-1872)ACC>ACA		mucin 16							95.0	99.0	97.0					19																	9089943		2196	4294	6490	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089943G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1872C>A	19.37:g.9089943G>T							p.T624T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	2076	-			624			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.1872C>A	CCDS54212.1																																																																																				PASS	0.572	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		55	73	55	73	---	---	---	---
CYP4F2	8529	broad.mit.edu	37	19	15989695	15989695	+	Silent	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr19:15989695C>T	ENST00000221700.6	-	13	1544	c.1449G>A	c.(1447-1449)gcG>gcA	p.A483A		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.A483A(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCAGCGTGAGCGCCAGGACCA	0.682																																						uc002nbs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1447-1449)GCG>GCA		cytochrome P450, family 4, subfamily F,							48.0	46.0	47.0					19																	15989695		2203	4300	6503	SO:0001819	synonymous_variant	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15989695C>T	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1449G>A	19.37:g.15989695C>T						CYP4F2_uc010xot.1_Silent_p.A334A	p.A483A	NM_001082	NP_001073	P78329	CP4F2_HUMAN			13	1499	-			483						Silent	SNP	ENST00000221700.6	37	c.1449G>A	CCDS12336.1																																																																																				PASS	0.682	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		33	42	33	42	---	---	---	---
CYP4F2	8529	broad.mit.edu	37	19	15989720	15989720	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr19:15989720A>T	ENST00000221700.6	-	13	1519	c.1424T>A	c.(1423-1425)aTg>aAg	p.M475K		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.M475K(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CATCTCCGCCATCGCGAACGT	0.677																																						uc002nbs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1423-1425)ATG>AAG		cytochrome P450, family 4, subfamily F,							48.0	46.0	47.0					19																	15989720		2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15989720A>T	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1424T>A	19.37:g.15989720A>T	ENSP00000221700:p.Met475Lys					CYP4F2_uc010xot.1_Missense_Mutation_p.M326K	p.M475K	NM_001082	NP_001073	P78329	CP4F2_HUMAN			13	1474	-			475						Missense_Mutation	SNP	ENST00000221700.6	37	c.1424T>A	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	a	14.15	2.450477	0.43531	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.67698	-0.28	2.62	2.62	0.31277	.	0.144064	0.40818	U	0.001018	T	0.81173	0.4767	M	0.88377	2.95	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	T	0.82481	-0.0436	10	0.87932	D	0	.	8.6842	0.34227	1.0:0.0:0.0:0.0	.	475	P78329	CP4F2_HUMAN	K	475;326	ENSP00000221700:M475K	ENSP00000221700:M475K	M	-	2	0	CYP4F2	15850720	1.000000	0.71417	0.376000	0.26042	0.086000	0.17979	7.938000	0.87678	1.188000	0.43014	0.397000	0.26171	ATG		PASS	0.677	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		33	59	33	59	---	---	---	---
JAK3	3718	broad.mit.edu	37	19	17937686	17937686	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr19:17937686T>A	ENST00000527670.1	-	23	3270	c.3241A>T	c.(3241-3243)Agc>Tgc	p.S1081C	JAK3_ENST00000458235.1_Missense_Mutation_p.S1081C			P52333	JAK3_HUMAN	Janus kinase 3	1081	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.S1081C(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TCCTGTGGGCTAGGGGCCCAG	0.632		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	uc002nhn.3		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			acute megakaryocytic leukemia|		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						c.(3241-3243)AGC>TGC		Janus kinase 3							58.0	58.0	58.0					19																	17937686		2203	4300	6503	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17937686T>A	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.3241A>T	19.37:g.17937686T>A	ENSP00000432511:p.Ser1081Cys					JAK3_uc010ebh.2_Intron	p.S1081C	NM_000215	NP_000206	P52333	JAK3_HUMAN			24	3341	-			1081			Protein kinase 2.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.3241A>T	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	t	14.80	2.643884	0.47258	.	.	ENSG00000105639	ENST00000458235;ENST00000527670	T;T	0.63580	-0.05;-0.05	3.61	3.61	0.41365	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.61590	0.2359	L	0.53729	1.69	0.09310	N	1	D	0.53619	0.961	P	0.49922	0.626	T	0.55036	-0.8203	9	0.66056	D	0.02	-0.3339	5.4317	0.16456	0.0:0.1277:0.0:0.8723	.	1081	P52333	JAK3_HUMAN	C	1081	ENSP00000391676:S1081C;ENSP00000432511:S1081C	ENSP00000391676:S1081C	S	-	1	0	JAK3	17798686	0.211000	0.23529	0.427000	0.26684	0.792000	0.44763	0.841000	0.27613	1.530000	0.49136	0.255000	0.18592	AGC		PASS	0.632	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		48	82	48	82	---	---	---	---
ZNF682	91120	broad.mit.edu	37	19	20117559	20117559	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr19:20117559T>A	ENST00000397165.2	-	4	912	c.752A>T	c.(751-753)cAt>cTt	p.H251L	ZNF682_ENST00000597972.1_Missense_Mutation_p.H257L|ZNF682_ENST00000358523.5_Missense_Mutation_p.H219L|ZNF682_ENST00000397162.1_Missense_Mutation_p.H219L|ZNF682_ENST00000595736.1_Missense_Mutation_p.H175L|ZNF682_ENST00000596019.1_Intron	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	251					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H251L(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						CTCACCAGTATGGATTCTCTT	0.378																																						uc002noq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(751-753)CAT>CTT		zinc finger protein 682 isoform 1							62.0	65.0	64.0					19																	20117559		2148	4266	6414	SO:0001583	missense	91120				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20117559T>A	AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"""Zinc fingers, C2H2-type"", ""-"""	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.752A>T	19.37:g.20117559T>A	ENSP00000380351:p.His251Leu					ZNF682_uc002noo.2_Missense_Mutation_p.H219L|ZNF682_uc002nop.2_Missense_Mutation_p.H219L|ZNF682_uc010eck.2_Missense_Mutation_p.H175L	p.H251L	NM_033196	NP_149973	O95780	ZN682_HUMAN			4	875	-			251			C2H2-type 3.		B3KU64|E9PFJ5|Q96JV9	Missense_Mutation	SNP	ENST00000397165.2	37	c.752A>T	CCDS42533.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.531797	0.27387	.	.	ENSG00000197124	ENST00000397165;ENST00000397162;ENST00000358523	T;T;T	0.67345	-0.26;-0.26;-0.26	1.08	1.08	0.20341	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83880	0.5350	H	0.95917	3.74	0.38261	D	0.941888	D	0.89917	1.0	D	0.97110	1.0	T	0.82645	-0.0355	9	0.87932	D	0	.	5.9184	0.19067	0.0:0.0:0.0:1.0	.	251	O95780	ZN682_HUMAN	L	251;219;219	ENSP00000380351:H251L;ENSP00000380348:H219L;ENSP00000351324:H219L	ENSP00000351324:H219L	H	-	2	0	ZNF682	19978559	1.000000	0.71417	0.070000	0.20053	0.060000	0.15804	3.789000	0.55454	0.407000	0.25591	0.397000	0.26171	CAT		PASS	0.378	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462888.1	NM_033196		62	86	62	86	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22941562	22941562	+	Silent	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr19:22941562G>T	ENST00000596209.1	-	4	1239	c.1149C>A	c.(1147-1149)gcC>gcA	p.A383A	ZNF99_ENST00000397104.3_Silent_p.A292A	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A292A(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTTTTCTAAGGGCTGACAAAT	0.368																																						uc010xrh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(874-876)GCC>GCA		zinc finger protein 99							91.0	96.0	95.0					19																	22941562		2016	4198	6214	SO:0001819	synonymous_variant	7652							g.chr19:22941562G>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1149C>A	19.37:g.22941562G>T							p.A292A	NM_001080409	NP_001073878					5	876	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.876C>A	CCDS59369.1																																																																																				PASS	0.368	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		44	65	44	65	---	---	---	---
LGI4	163175	broad.mit.edu	37	19	35617547	35617547	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr19:35617547A>G	ENST00000310123.3	-	8	1445	c.926T>C	c.(925-927)cTg>cCg	p.L309P	LGI4_ENST00000392225.3_Missense_Mutation_p.W335R|LGI4_ENST00000493050.1_5'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	309					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)		p.L309P(1)		endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CCGCGGGGCCAGGGTCTGCGT	0.746																																						uc002nxx.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(925-927)CTG>CCG		leucine-rich repeat LGI family, member 4							3.0	3.0	3.0					19																	35617547		1737	3429	5166	SO:0001583	missense	163175					extracellular region		g.chr19:35617547A>G	AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.926T>C	19.37:g.35617547A>G	ENSP00000312273:p.Leu309Pro					LGI4_uc002nxy.1_Missense_Mutation_p.L137P|LGI4_uc002nxz.1_Missense_Mutation_p.L137P	p.L309P	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)		8	1520	-	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		309					B2RN53|B9EGS7|Q5M8T1	Missense_Mutation	SNP	ENST00000310123.3	37	c.926T>C	CCDS12444.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.3|22.3	4.271146|4.271146	0.80469|0.80469	.|.	.|.	ENSG00000153902|ENSG00000153902	ENST00000310123;ENST00000437421|ENST00000392225	T|T	0.66280|0.66099	-0.2|-0.19	4.34|4.34	4.34|4.34	0.51931|0.51931	.|.	0.343018|.	0.20820|.	N|.	0.085085|.	T|T	0.64305|0.64305	0.2586|0.2586	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	D;D|.	0.65815|.	0.995;0.995|.	P;P|.	0.59221|.	0.854;0.854|.	T|T	0.67692|0.67692	-0.5605|-0.5605	10|7	0.87932|0.87932	D|D	0|0	.|.	11.4779|11.4779	0.50308|0.50308	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	220;309|.	Q658V8;Q8N135|.	.;LGI4_HUMAN|.	P|R	309|335	ENSP00000312273:L309P|ENSP00000376059:W335R	ENSP00000312273:L309P|ENSP00000376059:W335R	L|W	-|-	2|1	0|0	LGI4|LGI4	40309387|40309387	1.000000|1.000000	0.71417|0.71417	0.928000|0.928000	0.36995|0.36995	0.930000|0.930000	0.56654|0.56654	6.551000|6.551000	0.73909|0.73909	1.591000|1.591000	0.50007|0.50007	0.254000|0.254000	0.18369|0.18369	CTG|TGG		PASS	0.746	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1			2	2	2	2	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40433441	40433441	+	Silent	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr19:40433441C>A	ENST00000221347.6	-	2	835	c.828G>T	c.(826-828)ctG>ctT	p.L276L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	276	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)		p.L276L(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGTTGTAGGTCAGCTTTGTGG	0.592																																						uc002omp.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(826-828)CTG>CTT		Fc fragment of IgG binding protein precursor							53.0	47.0	49.0					19																	40433441		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40433441C>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.828G>T	19.37:g.40433441C>A							p.L276L	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	836	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		276			IgGFc-binding.		O95784	Silent	SNP	ENST00000221347.6	37	c.828G>T	CCDS12546.1																																																																																				PASS	0.592	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		40	47	40	47	---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51219713	51219713	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr19:51219713T>C	ENST00000293441.1	-	2	296	c.278A>G	c.(277-279)gAt>gGt	p.D93G	SHANK1_ENST00000391814.1_Missense_Mutation_p.D93G|SHANK1_ENST00000359082.3_Missense_Mutation_p.D93G	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	93					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|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)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.D93G(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GATGGTGGCATCGGGGTTGAA	0.632																																						uc002psx.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(277-279)GAT>GGT		SH3 and multiple ankyrin repeat domains 1							56.0	58.0	57.0					19																	51219713		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51219713T>C	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.278A>G	19.37:g.51219713T>C	ENSP00000293441:p.Asp93Gly						p.D93G	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	2	297	-		all_neural(266;0.057)	93					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.278A>G	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	t	11.22	1.575287	0.28092	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.17528	2.27;2.27;2.27	2.81	2.81	0.32909	.	0.000000	0.64402	U	0.000018	T	0.33876	0.0878	M	0.78456	2.415	0.53005	D	0.999966	D	0.67145	0.996	P	0.58172	0.834	T	0.18871	-1.0323	10	0.62326	D	0.03	.	10.2223	0.43205	0.0:0.0:0.0:1.0	.	93	Q9Y566	SHAN1_HUMAN	G	93	ENSP00000293441:D93G;ENSP00000351984:D93G;ENSP00000375690:D93G	ENSP00000293441:D93G	D	-	2	0	SHANK1	55911525	0.898000	0.30612	0.856000	0.33681	0.021000	0.10359	3.223000	0.51231	1.295000	0.44724	0.370000	0.22315	GAT		PASS	0.632	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		42	55	42	55	---	---	---	---
CD33	945	broad.mit.edu	37	19	51738444	51738444	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr19:51738444G>A	ENST00000262262.4	+	5	799	c.778G>A	c.(778-780)Ggg>Agg	p.G260R	CD33_ENST00000391796.3_Missense_Mutation_p.G260R|CD33_ENST00000421133.2_Missense_Mutation_p.G133R|CD33_ENST00000436584.2_Missense_Mutation_p.G133R	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	260					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.G260R(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AGTGGTTCATGGGGCCATTGG	0.498																																						uc002pwa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(778-780)GGG>AGG		CD33 antigen isoform 1 precursor	Gemtuzumab ozogamicin(DB00056)						138.0	116.0	124.0					19																	51738444		2203	4300	6503	SO:0001583	missense	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51738444G>A	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.778G>A	19.37:g.51738444G>A	ENSP00000262262:p.Gly260Arg					CD33_uc010eos.1_Missense_Mutation_p.G260R|CD33_uc010eot.1_Missense_Mutation_p.G133R|CD33_uc010eou.1_RNA	p.G260R	NM_001772	NP_001763	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	5	818	+		all_neural(266;0.0199)	260			Helical; (Potential).		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	c.778G>A	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	.	14.50	2.552788	0.45487	.	.	ENSG00000105383	ENST00000436584;ENST00000262262;ENST00000421133;ENST00000391796	T;T;T;T	0.59364	0.27;3.25;3.25;1.53	4.13	3.06	0.35304	.	1.557890	0.05009	U	0.470529	T	0.75369	0.3840	M	0.84773	2.715	0.09310	N	1	D;D;D	0.69078	0.997;0.99;0.997	D;P;D	0.64237	0.923;0.814;0.916	T	0.55879	-0.8071	10	0.17832	T	0.49	.	9.5144	0.39095	0.0:0.0:0.7909:0.2091	.	133;260;260	C9JEN7;F8WAL2;P20138	.;.;CD33_HUMAN	R	133;260;133;260	ENSP00000403331:G133R;ENSP00000262262:G260R;ENSP00000410126:G133R;ENSP00000375673:G260R	ENSP00000262262:G260R	G	+	1	0	CD33	56430256	0.008000	0.16893	0.001000	0.08648	0.002000	0.02628	1.955000	0.40372	1.078000	0.41014	0.563000	0.77884	GGG		PASS	0.498	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		61	56	61	56	---	---	---	---
ZNF615	284370	broad.mit.edu	37	19	52497080	52497080	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr19:52497080C>A	ENST00000602063.1	-	6	1598	c.1249G>T	c.(1249-1251)Gta>Tta	p.V417L	ZNF615_ENST00000594083.1_Missense_Mutation_p.V428L|ZNF615_ENST00000376716.5_Missense_Mutation_p.V417L|ZNF615_ENST00000598071.1_Missense_Mutation_p.V428L|ZNF615_ENST00000391795.3_Missense_Mutation_p.V422L			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	417					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V428L(1)|p.V417L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CGTTGATGTACCATGAGACAG	0.408																																						uc002pye.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(1249-1251)GTA>TTA		zinc finger protein 615							92.0	82.0	85.0					19																	52497080		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52497080C>A	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1249G>T	19.37:g.52497080C>A	ENSP00000473089:p.Val417Leu					ZNF615_uc002pyf.1_Missense_Mutation_p.V428L|ZNF615_uc002pyg.1_Missense_Mutation_p.V309L|ZNF615_uc002pyh.1_Missense_Mutation_p.V428L|ZNF615_uc010epi.1_Missense_Mutation_p.V424L|ZNF615_uc010ydg.1_Missense_Mutation_p.V422L	p.V417L	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1541	-		all_neural(266;0.117)	417			C2H2-type 8.		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.1249G>T	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	C	8.504	0.864942	0.17250	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.07444	3.19;3.19	2.99	-0.384	0.12474	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04003	0.0112	N	0.13198	0.31	0.09310	N	1	B;B;B;B	0.15473	0.013;0.01;0.01;0.013	B;B;B;B	0.12837	0.008;0.007;0.007;0.008	T	0.44952	-0.9294	9	0.25106	T	0.35	.	3.0618	0.06201	0.198:0.3433:0.0:0.4587	.	422;424;428;417	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	L	417;427;422;427	ENSP00000365906:V417L;ENSP00000375672:V422L	ENSP00000347019:V427L	V	-	1	0	ZNF615	57188892	0.000000	0.05858	0.207000	0.23584	0.954000	0.61252	-2.882000	0.00714	0.128000	0.18479	0.585000	0.79938	GTA		PASS	0.408	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		62	77	62	77	---	---	---	---
VN1R4	317703	broad.mit.edu	37	19	53770896	53770896	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr19:53770896A>G	ENST00000311170.4	-	1	76	c.23T>C	c.(22-24)gTg>gCg	p.V8A	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	8					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.V8A(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GATCATTCCCACTGCCACATA	0.527										HNSCC(26;0.072)																												uc010ydu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(22-24)GTG>GCG		vomeronasal 1 receptor 4							57.0	61.0	60.0					19																	53770896		2203	4298	6501	SO:0001583	missense	317703				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53770896A>G	AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.23T>C	19.37:g.53770896A>G	ENSP00000310856:p.Val8Ala	HNSCC(26;0.072)					p.V8A	NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN		GBM - Glioblastoma multiforme(134;0.00294)	1	23	-			8			Helical; Name=1; (Potential).		Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	ENST00000311170.4	37	c.23T>C	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	A	7.254	0.603795	0.14002	.	.	ENSG00000228567	ENST00000311170	T	0.10192	2.9	2.28	1.24	0.21308	.	.	.	.	.	T	0.05135	0.0137	N	0.08118	0	0.09310	N	1	B	0.20780	0.048	B	0.22152	0.038	T	0.38585	-0.9654	9	0.51188	T	0.08	.	4.0151	0.09641	0.818:0.0:0.182:0.0	.	8	Q7Z5H5	VN1R4_HUMAN	A	8	ENSP00000310856:V8A	ENSP00000310856:V8A	V	-	2	0	VN1R4	58462708	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.193000	0.09573	0.328000	0.23435	0.445000	0.29226	GTG		PASS	0.527	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		25	46	25	46	---	---	---	---
ZNF765	91661	broad.mit.edu	37	19	53905317	53905317	+	Splice_Site	SNP	G	G	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr19:53905317G>C	ENST00000396408.3	+	3	132		c.e3-1		ZNF765_ENST00000594030.1_Splice_Site	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.?(1)		endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TTTCATTTCAGGGTCTATTGA	0.438																																						uc010ydx.1																			1	Unknown(1)		lung(1)		0						c.e5-1		zinc finger protein 765							83.0	95.0	91.0					19																	53905317		1483	2664	4147	SO:0001630	splice_region_variant	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53905317G>C	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.16-1G>C	19.37:g.53905317G>C						ZNF765_uc002qbm.2_Splice_Site_p.G6_splice|ZNF765_uc002qbn.2_Splice_Site	p.G6_splice	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	5	343	+								A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Splice_Site	SNP	ENST00000396408.3	37	c.16_splice	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	.	0.106	-1.144483	0.01728	.	.	ENSG00000196417	ENST00000396408	.	.	.	1.07	1.07	0.20283	.	.	.	.	.	.	.	.	.	.	.	0.33460	D	0.584851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6734	0.28471	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF765	58597129	0.999000	0.42202	0.033000	0.17914	0.129000	0.20672	2.620000	0.46410	0.916000	0.36871	0.184000	0.17185	.		PASS	0.438	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372	Intron	15	225	15	225	---	---	---	---
ZNF761	388561	broad.mit.edu	37	19	53952764	53952764	+	RNA	SNP	G	G	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr19:53952764G>C	ENST00000454407.1	+	0	468							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TTTCATTTCAGGGTCTATTGA	0.433																																						uc010eqp.2																			0				ovary(1)	1						c.e5-1		zinc finger protein 761							55.0	69.0	65.0					19																	53952764		876	1989	2865			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53952764G>C	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53952764G>C						ZNF761_uc002qbr.2_Splice_Site|ZNF761_uc010ydy.1_Splice_Site|ZNF761_uc002qbs.2_Splice_Site|ZNF761_uc002qbt.1_5'Flank	p.G6_splice	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	5	474	+								Q6ZNB9	Splice_Site	SNP	ENST00000454407.1	37	c.16_splice																																																																																					PASS	0.433	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		35	43	35	43	---	---	---	---
ZNF813	126017	broad.mit.edu	37	19	53989885	53989885	+	Splice_Site	SNP	G	G	C			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr19:53989885G>C	ENST00000396403.4	+	3	143		c.e3-1		ZNF813_ENST00000396421.4_Splice_Site	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.?(2)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TTTCATTTCAGGGTCTATTGA	0.443																																						uc002qbu.2																			2	Unknown(2)		lung(2)	large_intestine(1)	1						c.e3-1		zinc finger protein 813							74.0	81.0	79.0					19																	53989885		2196	4280	6476	SO:0001630	splice_region_variant	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53989885G>C	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.16-1G>C	19.37:g.53989885G>C						ZNF813_uc010eqq.1_Splice_Site	p.G6_splice	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	3	144	+									Splice_Site	SNP	ENST00000396403.4	37	c.16_splice	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	-	5.808	0.333345	0.11013	.	.	ENSG00000198346	ENST00000396403;ENST00000490956;ENST00000396421	.	.	.	1.05	1.05	0.20165	.	.	.	.	.	.	.	.	.	.	.	0.46437	D	0.999044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.102	0.36673	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF813	58681697	0.732000	0.28121	0.132000	0.22025	0.070000	0.16714	1.682000	0.37628	0.549000	0.28973	0.388000	0.25769	.		PASS	0.443	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301	Intron	12	199	12	199	---	---	---	---
LILRA2	11027	broad.mit.edu	37	19	55086941	55086941	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr19:55086941C>A	ENST00000251377.3	+	6	1007	c.874C>A	c.(874-876)Cag>Aag	p.Q292K	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.Q280K|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.Q292K|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.Q292K			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	292	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.Q292K(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCACGGGGGCCAGTACAGATG	0.662																																						uc002qgg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(874-876)CAG>AAG		leukocyte immunoglobulin-like receptor,							49.0	51.0	50.0					19																	55086941		2203	4299	6502	SO:0001583	missense	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55086941C>A	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.874C>A	19.37:g.55086941C>A	ENSP00000251377:p.Gln292Lys					LILRA2_uc010ern.2_Missense_Mutation_p.Q292K|LILRA2_uc002qgf.2_Missense_Mutation_p.Q292K|LILRA2_uc010yfe.1_Missense_Mutation_p.Q292K|LILRA2_uc010yff.1_Missense_Mutation_p.Q280K|LILRA2_uc010ero.2_Missense_Mutation_p.Q280K|LILRA2_uc010yfg.1_Intron	p.Q292K	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	5	963	+			292			Ig-like C2-type 3.|Extracellular (Potential).		O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.874C>A	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485071	0.44147	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	2.8	-3.05	0.05396	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.410810	0.04901	N	0.451364	T	0.25717	0.0626	M	0.78637	2.42	0.09310	N	1	P;P;P;P	0.51791	0.877;0.624;0.948;0.593	B;B;P;P	0.55222	0.442;0.439;0.771;0.511	T	0.35325	-0.9793	10	0.62326	D	0.03	.	2.368	0.04324	0.4118:0.3069:0.0:0.2813	.	292;280;292;292	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	K	292;292;292;292;280	ENSP00000388131:Q292K;ENSP00000251377:Q292K;ENSP00000375618:Q292K;ENSP00000251376:Q292K;ENSP00000375617:Q280K	ENSP00000251376:Q292K	Q	+	1	0	LILRA2	59778753	0.000000	0.05858	0.000000	0.03702	0.260000	0.26232	-0.254000	0.08781	-0.243000	0.09653	0.400000	0.26472	CAG		PASS	0.662	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			73	73	73	73	---	---	---	---
TNNI3	7137	broad.mit.edu	37	19	55665559	55665559	+	Nonsense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr19:55665559G>A	ENST00000344887.5	-	7	530	c.388C>T	c.(388-390)Cag>Tag	p.Q130*	TNNI3_ENST00000590463.1_5'Flank|TNNI3_ENST00000588882.1_Nonsense_Mutation_p.Q105*	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	130	Involved in binding TNC and actin.				cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)	p.Q130*(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		AAGATCTTCTGAGTCAGATCT	0.567																																						uc002qjg.3																			1	Substitution - Nonsense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(388-390)CAG>TAG		troponin I, cardiac							40.0	45.0	43.0					19																	55665559		2010	4149	6159	SO:0001587	stop_gained	7137				cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding	g.chr19:55665559G>A	M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"""troponin I, cardiac"", ""cardiomyopathy, dilated 2A (autosomal recessive)"""	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.388C>T	19.37:g.55665559G>A	ENSP00000341838:p.Gln130*					TNNI3_uc010yft.1_Nonsense_Mutation_p.Q122*	p.Q130*	NM_000363	NP_000354	P19429	TNNI3_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	7	388	-			130			Involved in binding TNC and actin.			Nonsense_Mutation	SNP	ENST00000344887.5	37	c.388C>T	CCDS42628.1	.	.	.	.	.	.	.	.	.	.	G	36	5.613968	0.96637	.	.	ENSG00000129991	ENST00000344887	.	.	.	4.72	4.72	0.59763	.	0.110333	0.38326	N	0.001730	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-30.0593	10.5226	0.44929	0.0932:0.0:0.9068:0.0	.	.	.	.	X	130	.	ENSP00000341838:Q130X	Q	-	1	0	TNNI3	60357371	0.860000	0.29831	1.000000	0.80357	0.939000	0.58152	1.689000	0.37700	2.333000	0.79357	0.585000	0.79938	CAG		PASS	0.567	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1			20	47	20	47	---	---	---	---
ZSCAN1	284312	broad.mit.edu	37	19	58564960	58564960	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr19:58564960C>A	ENST00000282326.1	+	6	1015	c.768C>A	c.(766-768)gaC>gaA	p.D256E		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	256					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.D256E(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGAACACTGACCAGAGCGGCC	0.632																																						uc002qrc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(766-768)GAC>GAA		zinc finger and SCAN domain containing 1							63.0	66.0	65.0					19																	58564960		2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58564960C>A	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.768C>A	19.37:g.58564960C>A	ENSP00000282326:p.Asp256Glu						p.D256E	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	1015	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	256					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.768C>A	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.010281	0.00043	.	.	ENSG00000152467	ENST00000282326	T	0.04049	3.72	1.14	-2.28	0.06826	.	.	.	.	.	T	0.01661	0.0053	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.42916	-0.9423	9	0.05436	T	0.98	.	1.0503	0.01578	0.1896:0.2686:0.3579:0.1839	.	256	Q8NBB4	ZSCA1_HUMAN	E	256	ENSP00000282326:D256E	ENSP00000282326:D256E	D	+	3	2	ZSCAN1	63256772	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.382000	0.07408	-2.428000	0.00559	-1.487000	0.00979	GAC		PASS	0.632	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		26	38	26	38	---	---	---	---
ZSCAN18	65982	broad.mit.edu	37	19	58596178	58596178	+	Silent	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr19:58596178G>A	ENST00000240727.6	-	7	1806	c.1407C>T	c.(1405-1407)taC>taT	p.Y469Y	ZSCAN18_ENST00000421612.2_Silent_p.Y333Y|ZSCAN18_ENST00000601144.1_Silent_p.Y469Y|ZSCAN18_ENST00000600404.1_Silent_p.Y525Y	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	469					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Y469Y(1)|p.Y525Y(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCCCAGCGCGTAGCTTTTCT	0.721																																						uc002qri.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1405-1407)TAC>TAT		zinc finger and SCAN domain containing 18							24.0	23.0	23.0					19																	58596178		2187	4286	6473	SO:0001819	synonymous_variant	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58596178G>A	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.1407C>T	19.37:g.58596178G>A						ZSCAN18_uc002qrj.3_Silent_p.Y468Y|ZSCAN18_uc010yhs.1_Silent_p.Y333Y|ZSCAN18_uc002qrh.2_Silent_p.Y469Y|ZSCAN18_uc010yht.1_Silent_p.Y525Y|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	p.Y469Y	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	7	1716	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	469					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Silent	SNP	ENST00000240727.6	37	c.1407C>T	CCDS12971.1																																																																																				PASS	0.721	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		4	7	4	7	---	---	---	---
KIF16B	55614	broad.mit.edu	37	20	16359631	16359631	+	Nonsense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr20:16359631C>A	ENST00000354981.2	-	19	3173	c.3016G>T	c.(3016-3018)Gag>Tag	p.E1006*	KIF16B_ENST00000355755.3_Nonsense_Mutation_p.E1006*|KIF16B_ENST00000378003.2_Nonsense_Mutation_p.E232*|KIF16B_ENST00000408042.1_Nonsense_Mutation_p.E1006*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1006	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.E1006*(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AGGGCCCGCTCCAGCGCCTCT	0.542																																						uc002wpg.1																			2	Substitution - Nonsense(2)		lung(2)	skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.(3016-3018)GAG>TAG		kinesin-like motor protein C20orf23							86.0	91.0	89.0					20																	16359631		2203	4300	6503	SO:0001587	stop_gained	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16359631C>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3016G>T	20.37:g.16359631C>A	ENSP00000347076:p.Glu1006*					KIF16B_uc002wpe.1_Nonsense_Mutation_p.E388*|KIF16B_uc002wpf.1_Nonsense_Mutation_p.E388*|KIF16B_uc010gch.1_Nonsense_Mutation_p.E1006*|KIF16B_uc010gci.1_Nonsense_Mutation_p.E1006*|KIF16B_uc010gcj.1_Nonsense_Mutation_p.E1017*	p.E1006*	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			19	3174	-			1006			Glu-rich.|Potential.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Nonsense_Mutation	SNP	ENST00000354981.2	37	c.3016G>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	54	22.777623	0.99950	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	19.1862	0.93645	0.0:1.0:0.0:0.0	.	.	.	.	X	1006;1006;850;232;1006	.	ENSP00000347076:E1006X	E	-	1	0	KIF16B	16307631	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.278000	0.78587	2.642000	0.89623	0.643000	0.83706	GAG		PASS	0.542	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		84	110	84	110	---	---	---	---
EMILIN3	90187	broad.mit.edu	37	20	39990279	39990279	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr20:39990279G>T	ENST00000332312.3	-	4	2122	c.1930C>A	c.(1930-1932)Ctt>Att	p.L644I		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	644						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)		p.L644I(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CCAGCCTGAAGCCTGGAGCCT	0.647																																						uc002xjy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1930-1932)CTT>ATT		elastin microfibril interfacer 3							26.0	26.0	26.0					20																	39990279		2203	4299	6502	SO:0001583	missense	90187					proteinaceous extracellular matrix		g.chr20:39990279G>T	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1930C>A	20.37:g.39990279G>T	ENSP00000332806:p.Leu644Ile						p.L644I	NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN			4	2154	-		Myeloproliferative disorder(115;0.00425)	644			Potential.		Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	ENST00000332312.3	37	c.1930C>A	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247337	0.39697	.	.	ENSG00000183798	ENST00000332312	T	0.79749	-1.3	4.86	4.86	0.63082	.	0.071010	0.64402	D	0.000020	T	0.75759	0.3893	L	0.49126	1.545	0.38507	D	0.948389	P	0.48503	0.911	B	0.42282	0.382	T	0.78036	-0.2361	9	.	.	.	-2.7609	13.016	0.58757	0.0:0.0:0.8387:0.1613	.	644	Q9NT22	EMIL3_HUMAN	I	644	ENSP00000332806:L644I	.	L	-	1	0	EMILIN3	39423693	1.000000	0.71417	0.930000	0.37139	0.865000	0.49528	5.107000	0.64603	2.231000	0.72958	0.561000	0.74099	CTT		PASS	0.647	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		13	22	13	22	---	---	---	---
TP53RK	112858	broad.mit.edu	37	20	45315471	45315471	+	3'UTR	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr20:45315471G>A	ENST00000372102.3	-	0	713				RP1-28H20.3_ENST00000606362.1_lincRNA			Q96S44	PRPK_HUMAN	TP53 regulating kinase						lipopolysaccharide biosynthetic process (GO:0009103)|protein phosphorylation (GO:0006468)|tRNA processing (GO:0008033)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.S228F(1)		kidney(1)|large_intestine(1)|lung(4)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CTTTTTGGAGGAGGTGGAGTA	0.478																																						uc002xsk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(682-684)TCC>TTC		p53-related protein kinase							134.0	136.0	135.0					20																	45315471		2203	4300	6503	SO:0001624	3_prime_UTR_variant	112858				lipopolysaccharide biosynthetic process	membrane|nucleus	ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr20:45315471G>A		CCDS13401.1	20q13.2	2014-05-14	2004-05-10	2004-05-12	ENSG00000172315	ENSG00000172315			16197	protein-coding gene	gene with protein product		608679	"""chromosome 20 open reading frame 64"""	C20orf64		11546806, 12914926	Standard	NM_033550		Approved	dJ101A2.2, prpk, Nori-2p, BUD32	uc002xsk.3	Q96S44	OTTHUMG00000085887	ENST00000372102.3:c.*322C>T	20.37:g.45315471G>A						SLC13A3_uc002xsg.1_5'Flank|SLC13A3_uc010gho.1_5'Flank|TP53RK_uc002xsj.2_3'UTR	p.S228F	NM_033550	NP_291028	Q96S44	PRPK_HUMAN			2	906	-		Myeloproliferative disorder(115;0.0122)	228			Protein kinase.		B3KU44|Q3T977|Q5JZ01|Q6NZ60|Q96FM7|Q9NQE6	Missense_Mutation	SNP	ENST00000372102.3	37	c.683C>T		.	.	.	.	.	.	.	.	.	.	G	12.55	1.972417	0.34848	.	.	ENSG00000172315	ENST00000372114	T	0.19394	2.15	5.43	0.919	0.19392	Protein kinase, catalytic domain (1);	0.511109	0.21797	N	0.068961	T	0.12263	0.0298	L	0.35593	1.075	0.09310	N	0.99999	B	0.02656	0.0	B	0.04013	0.001	T	0.33445	-0.9868	10	0.13470	T	0.59	-4.6483	7.6737	0.28473	0.2183:0.0:0.6581:0.1235	.	228	Q96S44	PRPK_HUMAN	F	228	ENSP00000361186:S228F	ENSP00000361186:S228F	S	-	2	0	TP53RK	44748878	0.371000	0.25056	0.148000	0.22405	0.987000	0.75469	3.115000	0.50391	0.378000	0.24764	0.655000	0.94253	TCC		PASS	0.478	TP53RK-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000193688.1	NM_033550		114	140	114	140	---	---	---	---
COL20A1	57642	broad.mit.edu	37	20	61943356	61943357	+	Missense_Mutation	DNP	GC	GC	TA			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr20:61943356_61943357GC>TA	ENST00000358894.6	+	14	1852_1853	c.1752_1753GC>TA	c.(1750-1755)gtGCgc>gtTAgc	p.R585S	COL20A1_ENST00000435874.1_Missense_Mutation_p.R592S|COL20A1_ENST00000326996.6_Missense_Mutation_p.R585S|COL20A1_ENST00000422202.1_Missense_Mutation_p.R592S	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	585	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)		p.R585S(2)|p.V584V(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CGAGGCCTGTGCGCCTGGTCAG	0.683																																						uc011aau.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	central_nervous_system(1)	1						c.(1750-1752)GTG>GTT|c.(1753-1755)CGC>AGC		collagen, type XX, alpha 1																																				SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61943356G>T|g.chr20:61943357C>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	Exception_encountered	20.37:g.61943356_61943357delinsTA	ENSP00000351767:p.Arg585Ser					COL20A1_uc011aav.1_Silent_p.V405V|COL20A1_uc011aav.1_Missense_Mutation_p.R406S	p.V584V|p.R585S	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			14	1852|1853	+	all_cancers(38;1.39e-10)		584|585			Fibronectin type-III 4.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent|Missense_Mutation	SNP	ENST00000358894.6	37	c.1752G>T|c.1753C>A	CCDS46628.1																																																																																				PASS	0.683	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		17	9	17	9	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10906938	10906938	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr21:10906938C>T	ENST00000361285.4	-	24	1952	c.1623G>A	c.(1621-1623)atG>atA	p.M541I	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.M503I|TPTE_ENST00000298232.7_Missense_Mutation_p.M523I	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	541					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.M523I(2)|p.M541I(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CACTGGAAGTCATTTTCTCGC	0.383																																						uc002yip.1																			4	Substitution - Missense(4)		lung(4)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(1621-1623)ATG>ATA		transmembrane phosphatase with tensin homology							145.0	128.0	133.0					21																	10906938		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10906938C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1623G>A	21.37:g.10906938C>T	ENSP00000355208:p.Met541Ile					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.M523I|TPTE_uc002yir.1_Missense_Mutation_p.M503I|TPTE_uc010gkv.1_Missense_Mutation_p.M403I	p.M541I	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	24	1991	-			541					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1623G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	0.224	-1.026062	0.02045	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.94184	-3.23;-3.37;-3.35	1.6	-2.06	0.07298	C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.80374	0.4611	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.67118	-0.5751	9	0.37606	T	0.19	.	5.5202	0.16927	0.0:0.5385:0.0:0.4615	.	503;523;541	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	I	523;541;503	ENSP00000298232:M523I;ENSP00000355208:M541I;ENSP00000344441:M503I	ENSP00000298232:M523I	M	-	3	0	TPTE	9928809	0.002000	0.14202	0.000000	0.03702	0.021000	0.10359	0.541000	0.23207	-0.658000	0.05366	0.184000	0.17185	ATG		PASS	0.383	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			14	93	14	93	---	---	---	---
ITSN1	6453	broad.mit.edu	37	21	35144463	35144463	+	Nonsense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr21:35144463G>T	ENST00000381318.3	+	12	1429	c.1141G>T	c.(1141-1143)Gag>Tag	p.E381*	ITSN1_ENST00000379960.5_Nonsense_Mutation_p.E381*|ITSN1_ENST00000488166.1_3'UTR|ITSN1_ENST00000399367.3_Nonsense_Mutation_p.E381*|ITSN1_ENST00000381285.4_Nonsense_Mutation_p.E381*|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381291.4_Nonsense_Mutation_p.E381*|ITSN1_ENST00000399338.4_Nonsense_Mutation_p.E381*|ITSN1_ENST00000399349.1_Nonsense_Mutation_p.E381*|ITSN1_ENST00000399353.1_Nonsense_Mutation_p.E344*|ITSN1_ENST00000399355.2_Nonsense_Mutation_p.E381*|ITSN1_ENST00000399352.1_Nonsense_Mutation_p.E381*|ITSN1_ENST00000399326.3_Nonsense_Mutation_p.E381*|ITSN1_ENST00000437442.2_Nonsense_Mutation_p.E381*	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	381	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E381*(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAAGGAGCAGGAGCGCCTGGC	0.572																																						uc002yta.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1141-1143)GAG>TAG		intersectin 1 isoform ITSN-l							54.0	60.0	58.0					21																	35144463		2203	4300	6503	SO:0001587	stop_gained	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35144463G>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1141G>T	21.37:g.35144463G>T	ENSP00000370719:p.Glu381*					DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Nonsense_Mutation_p.E381*|ITSN1_uc010gmg.2_Nonsense_Mutation_p.E344*|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Nonsense_Mutation_p.E381*|ITSN1_uc010gmi.2_Nonsense_Mutation_p.E344*|ITSN1_uc010gmj.2_Nonsense_Mutation_p.E265*|ITSN1_uc002ysy.2_Nonsense_Mutation_p.E381*|ITSN1_uc002ysx.2_Nonsense_Mutation_p.E344*|ITSN1_uc002ytb.1_Nonsense_Mutation_p.E381*|ITSN1_uc002ytc.1_Nonsense_Mutation_p.E381*|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Nonsense_Mutation_p.E344*|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Nonsense_Mutation_p.E381*|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Nonsense_Mutation_p.E315*	p.E381*	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			12	1409	+			381			Potential.|KLERQ.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Nonsense_Mutation	SNP	ENST00000381318.3	37	c.1141G>T	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	39	7.615289	0.98390	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000381283;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.2198	0.93791	0.0:0.0:1.0:0.0	.	.	.	.	X	344;381;381;381;381;381;381;381;381;381;321;381;381;381;381	.	ENSP00000369294:E381X	E	+	1	0	ITSN1	34066333	1.000000	0.71417	0.983000	0.44433	0.952000	0.60782	9.813000	0.99286	2.616000	0.88540	0.455000	0.32223	GAG		PASS	0.572	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		21	23	21	23	---	---	---	---
PDE9A	5152	broad.mit.edu	37	21	44185586	44185586	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr21:44185586C>A	ENST00000291539.6	+	15	1398	c.1338C>A	c.(1336-1338)aaC>aaA	p.N446K	PDE9A_ENST00000335440.6_Missense_Mutation_p.N344K|PDE9A_ENST00000380328.2_Missense_Mutation_p.N393K|PDE9A_ENST00000398227.3_Missense_Mutation_p.N286K|PDE9A_ENST00000328862.6_Missense_Mutation_p.N420K|PDE9A_ENST00000398232.3_Missense_Mutation_p.N379K|PDE9A_ENST00000349112.3_Missense_Mutation_p.N318K|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398229.3_Missense_Mutation_p.N312K|PDE9A_ENST00000398236.3_Missense_Mutation_p.N360K|PDE9A_ENST00000398225.3_Missense_Mutation_p.N405K|PDE9A_ENST00000335512.4_Missense_Mutation_p.N386K|PDE9A_ENST00000398224.3_Missense_Mutation_p.N319K|PDE9A_ENST00000539837.1_Missense_Mutation_p.N318K|PDE9A_ENST00000398234.3_Missense_Mutation_p.N345K	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	446	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)	p.N446K(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	ACTACAGCAACGAGGAGCACA	0.498																																						uc002zbm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1336-1338)AAC>AAA		phosphodiesterase 9A isoform a							92.0	82.0	85.0					21																	44185586		2203	4300	6503	SO:0001583	missense	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44185586C>A	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1338C>A	21.37:g.44185586C>A	ENSP00000291539:p.Asn446Lys					PDE9A_uc002zbn.2_Missense_Mutation_p.N319K|PDE9A_uc002zbo.2_Missense_Mutation_p.N393K|PDE9A_uc002zbp.2_Missense_Mutation_p.N239K|PDE9A_uc002zbq.2_Missense_Mutation_p.N344K|PDE9A_uc002zbs.2_Missense_Mutation_p.N239K|PDE9A_uc002zbr.2_Missense_Mutation_p.N239K|PDE9A_uc002zbt.2_Missense_Mutation_p.N318K|PDE9A_uc002zbu.2_Missense_Mutation_p.N312K|PDE9A_uc002zbv.2_Missense_Mutation_p.N286K|PDE9A_uc002zbw.2_Missense_Mutation_p.N229K|PDE9A_uc002zbx.2_Missense_Mutation_p.N386K|PDE9A_uc002zby.2_Missense_Mutation_p.N229K|PDE9A_uc002zbz.2_Missense_Mutation_p.N338K|PDE9A_uc002zca.2_Missense_Mutation_p.N405K|PDE9A_uc002zcb.2_Missense_Mutation_p.N420K|PDE9A_uc002zcc.2_Missense_Mutation_p.N345K|PDE9A_uc002zcd.2_Missense_Mutation_p.N360K|PDE9A_uc002zce.2_Missense_Mutation_p.N379K|PDE9A_uc002zcf.2_Missense_Mutation_p.N239K|PDE9A_uc002zcg.2_Missense_Mutation_p.N239K|PDE9A_uc002zch.2_Missense_Mutation_p.N229K|PDE9A_uc010gpf.1_Missense_Mutation_p.N239K	p.N446K	NM_002606	NP_002597	O76083	PDE9A_HUMAN			15	1401	+			446			Catalytic (By similarity).		B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	ENST00000291539.6	37	c.1338C>A	CCDS13690.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.504607	0.44558	.	.	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	3.93	-7.85	0.01192	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.207681	0.48286	D	0.000186	T	0.79724	0.4495	L	0.58669	1.825	0.40770	D	0.983081	P;D;P;P;P;P;P;D;P;P;P;P;P;D;P;D	0.61080	0.823;0.962;0.724;0.931;0.917;0.944;0.64;0.989;0.724;0.724;0.823;0.823;0.767;0.962;0.897;0.969	P;P;P;P;P;P;B;P;P;P;P;P;B;P;P;P	0.56788	0.62;0.706;0.62;0.62;0.596;0.527;0.335;0.725;0.47;0.498;0.62;0.521;0.427;0.62;0.62;0.806	D	0.83842	0.0258	10	0.38643	T	0.18	.	12.8122	0.57645	0.0:0.3607:0.0:0.6393	.	318;379;360;345;420;405;338;386;229;286;312;318;344;393;319;446	F5GWD0;O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-10;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN	K	386;318;446;393;379;345;360;420;344;405;312;286;318;319	ENSP00000335242:N386K;ENSP00000441899:N318K;ENSP00000291539:N446K;ENSP00000369685:N393K;ENSP00000381287:N379K;ENSP00000381289:N345K;ENSP00000381291:N360K;ENSP00000328699:N420K;ENSP00000335365:N344K;ENSP00000381281:N405K;ENSP00000381285:N312K;ENSP00000381283:N286K;ENSP00000344730:N318K;ENSP00000381280:N319K	ENSP00000291539:N446K	N	+	3	2	PDE9A	43058655	0.150000	0.22732	0.722000	0.30670	0.749000	0.42624	-0.596000	0.05720	-1.927000	0.01060	-1.511000	0.00944	AAC		PASS	0.498	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			10	21	10	21	---	---	---	---
PKNOX1	5316	broad.mit.edu	37	21	44430176	44430176	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr21:44430176C>A	ENST00000291547.5	+	4	404	c.193C>A	c.(193-195)Cca>Aca	p.P65T	PKNOX1_ENST00000432907.2_Intron	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	65					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P65T(1)		cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						TCCACTATTTCCATTATTAGC	0.378																																						uc002zcq.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(193-195)CCA>ACA		PBX/knotted 1 homeobox 1							73.0	75.0	74.0					21																	44430176		2203	4300	6503	SO:0001583	missense	5316						sequence-specific DNA binding	g.chr21:44430176C>A		CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"""Homeoboxes / TALE class"""	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.193C>A	21.37:g.44430176C>A	ENSP00000291547:p.Pro65Thr					PKNOX1_uc002zcp.1_Missense_Mutation_p.P65T|PKNOX1_uc011aex.1_Intron|PKNOX1_uc002zcr.2_Missense_Mutation_p.P65T	p.P65T	NM_004571	NP_004562	P55347	PKNX1_HUMAN			4	381	+			65					O00528|Q8IWT7	Missense_Mutation	SNP	ENST00000291547.5	37	c.193C>A	CCDS13692.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507604	0.85282	.	.	ENSG00000160199	ENST00000291547	T	0.33216	1.42	5.5	5.5	0.81552	.	0.052779	0.85682	D	0.000000	T	0.63827	0.2544	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.69986	-0.4996	10	0.87932	D	0	.	19.3751	0.94505	0.0:1.0:0.0:0.0	.	65;65;65	Q5DNB2;P55347;P55347-2	.;PKNX1_HUMAN;.	T	65	ENSP00000291547:P65T	ENSP00000291547:P65T	P	+	1	0	PKNOX1	43303245	1.000000	0.71417	0.203000	0.23512	0.872000	0.50106	7.335000	0.79234	2.586000	0.87340	0.561000	0.74099	CCA		PASS	0.378	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3			30	69	30	69	---	---	---	---
TXNRD2	10587	broad.mit.edu	37	22	19864684	19864684	+	Silent	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr22:19864684G>A	ENST00000400521.1	-	17	1525	c.1519C>T	c.(1519-1521)Ctg>Ttg	p.L507L	TXNRD2_ENST00000400519.1_Silent_p.L506L|TXNRD2_ENST00000400518.1_Silent_p.L477L|TXNRD2_ENST00000535882.1_Silent_p.L506L|TXNRD2_ENST00000542719.1_Silent_p.L477L	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	507					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)	p.L507L(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GAGATGCGCAGCTTGACTACC	0.667																																						uc011ahc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1519-1521)CTG>TTG		thioredoxin reductase 2 precursor							36.0	40.0	39.0					22																	19864684		2102	4229	6331	SO:0001819	synonymous_variant	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19864684G>A	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.1519C>T	22.37:g.19864684G>A						TXNRD2_uc002zql.1_Silent_p.L261L|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Silent_p.L506L|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqq.1_Silent_p.L157L	p.L507L	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN			17	1552	-	Colorectal(54;0.0993)		507					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Silent	SNP	ENST00000400521.1	37	c.1519C>T	CCDS42981.1																																																																																				PASS	0.667	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440		32	25	32	25	---	---	---	---
HIC2	23119	broad.mit.edu	37	22	21799774	21799774	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr22:21799774C>T	ENST00000443632.2	+	2	962	c.590C>T	c.(589-591)tCa>tTa	p.S197L	HIC2_ENST00000407464.2_Missense_Mutation_p.S197L|HIC2_ENST00000407598.2_Missense_Mutation_p.S197L			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	197					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.S197L(1)		NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GCCAAAGGCTCAGACGATGAA	0.672																																					NSCLC(23;437 858 2282 27947 40366)	uc002zur.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(589-591)TCA>TTA		hypermethylated in cancer 2							12.0	16.0	14.0					22																	21799774		2163	4276	6439	SO:0001583	missense	23119				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	g.chr22:21799774C>T	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.590C>T	22.37:g.21799774C>T	ENSP00000387757:p.Ser197Leu					HIC2_uc002zus.3_Missense_Mutation_p.S197L	p.S197L	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN			3	820	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	197					Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Missense_Mutation	SNP	ENST00000443632.2	37	c.590C>T	CCDS13789.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849308	0.51270	.	.	ENSG00000169635	ENST00000407464;ENST00000407598;ENST00000443632	T;T;T	0.11604	2.76;2.76;2.76	5.13	5.13	0.70059	.	0.138704	0.51477	D	0.000095	T	0.13756	0.0333	L	0.47716	1.5	0.44927	D	0.997943	P	0.49090	0.919	B	0.42692	0.395	T	0.00928	-1.1511	10	0.52906	T	0.07	.	16.1093	0.81247	0.0:1.0:0.0:0.0	.	197	Q96JB3	HIC2_HUMAN	L	197	ENSP00000385319:S197L;ENSP00000384889:S197L;ENSP00000387757:S197L	ENSP00000385319:S197L	S	+	2	0	HIC2	20129774	1.000000	0.71417	0.997000	0.53966	0.371000	0.29859	5.537000	0.67186	2.667000	0.90743	0.561000	0.74099	TCA		PASS	0.672	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			13	23	13	23	---	---	---	---
GALR3	8484	broad.mit.edu	37	22	38219752	38219752	+	Silent	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr22:38219752G>A	ENST00000249041.2	+	1	364	c.339G>A	c.(337-339)ctG>ctA	p.L113L		NM_003614.1	NP_003605.1	O60755	GALR3_HUMAN	galanin receptor 3	113					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)	p.L113L(1)		endometrium(1)|liver(2)|lung(1)	4	Melanoma(58;0.045)					GCTTTACGCTGGCTGCTGTCT	0.652																																						uc003aub.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(337-339)CTG>CTA		galanin receptor 3							51.0	39.0	43.0					22																	38219752		2203	4300	6503	SO:0001819	synonymous_variant	8484				feeding behavior|learning or memory|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr22:38219752G>A	AF073799	CCDS13958.1	22q113.1	2012-08-08			ENSG00000128310	ENSG00000128310		"""GPCR / Class A : Galanin receptors"""	4134	protein-coding gene	gene with protein product		603692				9722565, 9832121	Standard	NM_003614		Approved		uc003aub.1	O60755	OTTHUMG00000150658	ENST00000249041.2:c.339G>A	22.37:g.38219752G>A							p.L113L	NM_003614	NP_003605	O60755	GALR3_HUMAN			1	364	+	Melanoma(58;0.045)		113			Helical; Name=3; (Potential).		Q53YJ4	Silent	SNP	ENST00000249041.2	37	c.339G>A	CCDS13958.1																																																																																				PASS	0.652	GALR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319452.1			26	30	26	30	---	---	---	---
POLR3H	171568	broad.mit.edu	37	22	41928669	41928669	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr22:41928669C>G	ENST00000355209.4	-	3	632	c.289G>C	c.(289-291)Gtg>Ctg	p.V97L	POLR3H_ENST00000396504.2_Missense_Mutation_p.V97L|POLR3H_ENST00000337566.5_Intron|POLR3H_ENST00000407461.1_Missense_Mutation_p.V97L|POLR3H_ENST00000420561.1_5'UTR	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	97					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|nucleobase-containing compound metabolic process (GO:0006139)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.V97L(1)		breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						TTACCGTGCACTCCTTCTGGG	0.552											OREG0026590	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003baf.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(289-291)GTG>CTG		polymerase (RNA) III (DNA directed) polypeptide							159.0	130.0	140.0					22																	41928669		2203	4300	6503	SO:0001583	missense	171568				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr22:41928669C>G	AB051452	CCDS14018.1, CCDS33651.1	22q13	2013-01-21			ENSG00000100413	ENSG00000100413		"""RNA polymerase subunits"""	30349	protein-coding gene	gene with protein product						11258795, 12391170	Standard	XR_244356		Approved	RPC8, KIAA1665	uc003baf.3	Q9Y535	OTTHUMG00000150971	ENST00000355209.4:c.289G>C	22.37:g.41928669C>G	ENSP00000347345:p.Val97Leu		OREG0026590	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	904	POLR3H_uc003bae.2_RNA|POLR3H_uc003bag.2_Missense_Mutation_p.V97L|POLR3H_uc003bai.2_Intron	p.V97L	NM_138338	NP_612211	Q9Y535	RPC8_HUMAN			4	349	-			97					B0QYH9|Q5M7Y8|Q96AE3|Q9BY95	Missense_Mutation	SNP	ENST00000355209.4	37	c.289G>C	CCDS14018.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951673	0.34471	.	.	ENSG00000100413	ENST00000396504;ENST00000355209;ENST00000407461	.	.	.	5.37	5.37	0.77165	Nucleic acid-binding, OB-fold-like (1);RNA polymerase III, subunit Rpc25 (1);	0.000000	0.85682	D	0.000000	T	0.53351	0.1791	L	0.35542	1.07	0.80722	D	1	B	0.27559	0.181	B	0.33392	0.163	T	0.48422	-0.9037	9	0.08837	T	0.75	.	18.1076	0.89525	0.0:1.0:0.0:0.0	.	97	Q9Y535	RPC8_HUMAN	L	97	.	ENSP00000347345:V97L	V	-	1	0	POLR3H	40258615	1.000000	0.71417	0.999000	0.59377	0.065000	0.16274	7.622000	0.83099	2.523000	0.85059	0.542000	0.68232	GTG		PASS	0.552	POLR3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320701.1	NM_138338		72	112	72	112	---	---	---	---
NR0B1	190	broad.mit.edu	37	X	30326572	30326572	+	Silent	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chrX:30326572G>A	ENST00000378970.4	-	1	1143	c.909C>T	c.(907-909)cgC>cgT	p.R303R	NR0B1_ENST00000453287.1_Silent_p.R303R|NR0B1_ENST00000378963.1_Silent_p.R8R	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	303	Ligand-binding. {ECO:0000250}.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.R303R(1)		central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CGAACTGCAAGCGGTCCTGGG	0.657											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dcf.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(907-909)CGC>CGT		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						16.0	11.0	12.0					X																	30326572		2189	4274	6463	SO:0001819	synonymous_variant	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30326572G>A	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.909C>T	X.37:g.30326572G>A			OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	816		p.R303R	NM_000475	NP_000466	P51843	NR0B1_HUMAN			1	924	-			303			Ligand-binding (By similarity).		Q96F69	Silent	SNP	ENST00000378970.4	37	c.909C>T	CCDS14223.1																																																																																				PASS	0.657	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		12	2	12	2	---	---	---	---
FAM47C	442444	broad.mit.edu	37	X	37028554	37028554	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chrX:37028554C>T	ENST00000358047.3	+	1	2123	c.2071C>T	c.(2071-2073)Cgc>Tgc	p.R691C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	691								p.R691C(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCTCATCTCCGCCCAGAGCC	0.657																																						uc004ddl.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2071-2073)CGC>TGC		hypothetical protein LOC442444							38.0	37.0	37.0					X																	37028554		2202	4299	6501	SO:0001583	missense	442444							g.chrX:37028554C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2071C>T	X.37:g.37028554C>T	ENSP00000367913:p.Arg691Cys						p.R691C	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	2085	+			691					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2071C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	2.988	-0.208750	0.06140	.	.	ENSG00000198173	ENST00000358047	T	0.21543	2.0	1.06	-0.16	0.13375	.	.	.	.	.	T	0.10380	0.0254	N	0.13272	0.32	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.29941	-0.9995	9	0.37606	T	0.19	.	4.5629	0.12168	0.0:0.5278:0.0:0.4722	.	691	Q5HY64	FA47C_HUMAN	C	691	ENSP00000367913:R691C	ENSP00000367913:R691C	R	+	1	0	FAM47C	36938475	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	0.436000	0.21526	-0.704000	0.05042	-0.741000	0.03529	CGC		PASS	0.657	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		49	9	49	9	---	---	---	---
FAM47C	442444	broad.mit.edu	37	X	37029564	37029564	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chrX:37029564C>A	ENST00000358047.3	+	1	3133	c.3081C>A	c.(3079-3081)gaC>gaA	p.D1027E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	1027								p.D1027E(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ACAAAGAAGACGTCACAGATG	0.383																																						uc004ddl.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(3079-3081)GAC>GAA		hypothetical protein LOC442444							118.0	98.0	105.0					X																	37029564		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37029564C>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.3081C>A	X.37:g.37029564C>A	ENSP00000367913:p.Asp1027Glu						p.D1027E	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	3095	+			1027					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.3081C>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	C	5.384	0.256134	0.10185	.	.	ENSG00000198173	ENST00000358047	T	0.14516	2.5	0.502	-1.0	0.10196	.	.	.	.	.	T	0.06962	0.0177	N	0.22421	0.69	0.09310	N	1	P	0.37688	0.605	B	0.37144	0.242	T	0.34976	-0.9807	8	0.15499	T	0.54	.	.	.	.	.	1027	Q5HY64	FA47C_HUMAN	E	1027	ENSP00000367913:D1027E	ENSP00000367913:D1027E	D	+	3	2	FAM47C	36939485	0.002000	0.14202	0.004000	0.12327	0.009000	0.06853	-1.871000	0.01640	-0.688000	0.05155	-0.713000	0.03633	GAC		PASS	0.383	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		96	14	96	14	---	---	---	---
ZNF630	57232	broad.mit.edu	37	X	47920198	47920198	+	Splice_Site	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chrX:47920198C>T	ENST00000409324.3	-	3	368	c.142G>A	c.(142-144)Ggg>Agg	p.G48R	ZNF630_ENST00000276054.4_5'UTR|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Splice_Site_p.G34R	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	48	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G48W(1)|p.G48R(1)		endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CTGCCCTTACCCACGGAGACC	0.468																																						uc004div.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(142-144)GGG>AGG		zinc finger protein 630							67.0	51.0	56.0					X																	47920198		1557	3570	5127	SO:0001630	splice_region_variant	57232				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47920198C>T	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.142+1G>A	X.37:g.47920198C>T						ZNF630_uc010nhz.1_RNA|ZNF630_uc004diw.2_5'UTR	p.G48R	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN			3	394	-			48			KRAB.		F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	c.142G>A	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	13.71	2.318709	0.41096	.	.	ENSG00000221994	ENST00000442455;ENST00000409324;ENST00000428686	T;T;T	0.02863	4.13;4.13;4.13	2.31	-0.361	0.12564	Krueppel-associated box (4);	.	.	.	.	T	0.07188	0.0182	M	0.91090	3.175	0.09310	N	0.999999	B	0.19817	0.039	B	0.28849	0.095	T	0.27088	-1.0084	8	.	.	.	.	5.0944	0.14725	0.0:0.5819:0.2707:0.1474	.	48	Q2M218	ZN630_HUMAN	R	34;48;48	ENSP00000393163:G34R;ENSP00000386393:G48R;ENSP00000407278:G48R	.	G	-	1	0	ZNF630	47805142	0.997000	0.39634	0.017000	0.16124	0.086000	0.17979	1.042000	0.30303	-0.180000	0.10637	0.468000	0.43344	GGG		PASS	0.468	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735	Missense_Mutation	23	2	23	2	---	---	---	---
CXorf67	340602	broad.mit.edu	37	X	51150238	51150238	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chrX:51150238G>A	ENST00000342995.2	+	1	472	c.370G>A	c.(370-372)Ggg>Agg	p.G124R				Q86X51	CX067_HUMAN	chromosome X open reading frame 67	124								p.G124R(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						GGCCGCTGTGGGGCCCCAGAA	0.682																																						uc004dpj.2																			1	Substitution - Missense(1)		lung(1)								c.(370-372)GGG>AGG		hypothetical protein LOC340602							9.0	9.0	9.0					X																	51150238		2166	4246	6412	SO:0001583	missense	0							g.chrX:51150238G>A	BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690			33738	protein-coding gene	gene with protein product						23959973	Standard	XR_113306		Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.370G>A	X.37:g.51150238G>A	ENSP00000342680:p.Gly124Arg						p.G124R	NM_203407	NP_981952					1	472	+									Missense_Mutation	SNP	ENST00000342995.2	37	c.370G>A		.	.	.	.	.	.	.	.	.	.	G	13.94	2.386451	0.42308	.	.	ENSG00000187690	ENST00000342995	T	0.53423	0.62	3.54	1.75	0.24633	.	1.138890	0.06925	N	0.810053	T	0.46347	0.1388	.	.	.	0.09310	N	1	D	0.71674	0.998	D	0.68765	0.96	T	0.40232	-0.9574	9	0.06099	T	0.92	-0.706	3.4926	0.07644	0.1378:0.0:0.6116:0.2506	.	124	Q86X51	CX067_HUMAN	R	124	ENSP00000342680:G124R	ENSP00000342680:G124R	G	+	1	0	CXorf67	51166978	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.046000	0.14035	0.329000	0.23460	0.600000	0.82982	GGG		PASS	0.682	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_203407		5	0	5	0	---	---	---	---
GSPT2	23708	broad.mit.edu	37	X	51488591	51488591	+	Silent	SNP	G	G	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chrX:51488591G>A	ENST00000340438.4	+	1	2111	c.1869G>A	c.(1867-1869)ttG>ttA	p.L623L		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	623					cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.L623L(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					TTCTGAAATTGGTCCCAGAGA	0.418																																						uc004dpl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1867-1869)TTG>TTA		peptide chain release factor 3							62.0	59.0	60.0					X																	51488591		2203	4300	6503	SO:0001819	synonymous_variant	23708				cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	g.chrX:51488591G>A	AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.1869G>A	X.37:g.51488591G>A							p.L623L	NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN			1	2095	+	Ovarian(276;0.236)		623					Q9H909|Q9NVY0|Q9NY44	Silent	SNP	ENST00000340438.4	37	c.1869G>A	CCDS14336.1																																																																																				PASS	0.418	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1			35	6	35	6	---	---	---	---
SMC1A	8243	broad.mit.edu	37	X	53440302	53440302	+	Silent	SNP	C	C	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chrX:53440302C>T	ENST00000322213.4	-	4	622	c.495G>A	c.(493-495)gcG>gcA	p.A165A	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	165					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.A165A(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CATACTCCTGCGCCAGCTCCC	0.463																																						uc004dsg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(493-495)GCG>GCA		structural maintenance of chromosomes 1A							138.0	124.0	129.0					X																	53440302		2203	4300	6503	SO:0001819	synonymous_variant	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53440302C>T	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.495G>A	X.37:g.53440302C>T						SMC1A_uc011moe.1_Silent_p.A143A|SMC1A_uc011mof.1_Intron|SMC1A_uc004dsi.1_Silent_p.A31A	p.A165A	NM_006306	NP_006297	Q14683	SMC1A_HUMAN			4	564	-			165			Potential.		O14995|Q16351|Q2M228	Silent	SNP	ENST00000322213.4	37	c.495G>A	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	6.372	0.436692	0.12104	.	.	ENSG00000072501	ENST00000428014	.	.	.	4.63	0.543	0.17179	.	.	.	.	.	T	0.41971	0.1182	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20773	-1.0265	4	.	.	.	.	1.4228	0.02316	0.1701:0.1318:0.2791:0.419	.	.	.	.	H	170	.	.	R	-	2	0	SMC1A	53457027	0.002000	0.14202	0.996000	0.52242	0.942000	0.58702	-1.093000	0.03362	-0.226000	0.09899	-1.768000	0.00664	CGC		PASS	0.463	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		4	106	4	106	---	---	---	---
KLHL4	56062	broad.mit.edu	37	X	86869560	86869560	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chrX:86869560G>T	ENST00000373119.4	+	3	859	c.714G>T	c.(712-714)caG>caT	p.Q238H	KLHL4_ENST00000373114.4_Missense_Mutation_p.Q238H	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	238	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q238H(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CCTTGGTGCAGTATGCTTACA	0.348																																						uc004efb.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(712-714)CAG>CAT		kelch-like 4 isoform 1							157.0	111.0	126.0					X																	86869560		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86869560G>T	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.714G>T	X.37:g.86869560G>T	ENSP00000362211:p.Gln238His					KLHL4_uc004efa.2_Missense_Mutation_p.Q238H	p.Q238H	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			3	896	+			238			BTB.		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.714G>T	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402725	0.25291	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.70749	-0.51;-0.51	4.71	0.604	0.17547	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.236956	0.39083	N	0.001466	T	0.49081	0.1536	L	0.27053	0.805	0.35508	D	0.80037	B;B	0.19445	0.005;0.036	B;B	0.20384	0.022;0.029	T	0.38023	-0.9680	10	0.56958	D	0.05	.	1.3241	0.02122	0.1963:0.3813:0.2032:0.2191	.	238;238	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	H	238	ENSP00000362211:Q238H;ENSP00000362206:Q238H	ENSP00000362206:Q238H	Q	+	3	2	KLHL4	86756216	0.997000	0.39634	0.998000	0.56505	0.988000	0.76386	0.367000	0.20382	-0.022000	0.13986	0.436000	0.28706	CAG		PASS	0.348	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			39	6	39	6	---	---	---	---
MAGEA12	4111	broad.mit.edu	37	X	151900150	151900150	+	Silent	SNP	A	A	G			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chrX:151900150A>G	ENST00000357916.4	-	2	806	c.651T>C	c.(649-651)ccT>ccC	p.P217P	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Silent_p.P217P|MAGEA12_ENST00000393900.3_Silent_p.P217P	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	217	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.P217P(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTCTCCTCAGGGGCACAGT	0.562																																						uc010ntp.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(649-651)CCT>CCC		melanoma antigen family A, 12							161.0	155.0	157.0					X																	151900150		2203	4300	6503	SO:0001819	synonymous_variant	4111							g.chrX:151900150A>G		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.651T>C	X.37:g.151900150A>G						MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Silent_p.P217P	p.P217P	NM_005367	NP_005358	P43365	MAGAC_HUMAN			3	1005	-	Acute lymphoblastic leukemia(192;6.56e-05)		217			MAGE.		Q9NSD3	Silent	SNP	ENST00000357916.4	37	c.651T>C	CCDS14710.1																																																																																				PASS	0.562	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		118	15	118	15	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27056326	27056326	+	Frame_Shift_Del	DEL	C	C	-			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr1:27056326delC	ENST00000324856.7	+	2	1693	c.1322delC	c.(1321-1323)gccfs	p.A441fs	ARID1A_ENST00000374152.2_Frame_Shift_Del_p.A58fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.A441fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	441					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCGCAGAGTGCCATGGGCGGC	0.572			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1				Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(1321-1323)GCCfs		AT rich interactive domain 1A isoform a							38.0	42.0	41.0					1																	27056326		2203	4299	6502	SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27056326delC	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1322delC	1.37:g.27056326delC	ENSP00000320485:p.Ala441fs					ARID1A_uc001bmt.1_Frame_Shift_Del_p.A441fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.A441fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.A58fs	p.A441fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	2	1695	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	441					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.1322delC	CCDS285.1																																																																																					0.572	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		10	51	10	51	---	---	---	---
LOC100506123	100506123	broad.mit.edu	37	2	98090956	98090957	+	lincRNA	DEL	TT	TT	-	rs181974546|rs200042862		TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr2:98090956_98090957delTT	ENST00000492960.2	-	0	92_93				AC159540.2_ENST00000598371.1_lincRNA	NR_040097.1																						ggcctgaagattgtgtgtgtgt	0.426																																						uc002sxv.3																			0													Homo sapiens cDNA clone IMAGE:5217021, with apparent retained intron.																																						0							g.chr2:98090956_98090957delTT																													2.37:g.98090956_98090957delTT														1		-									RNA	DEL	ENST00000492960.2	37	c.93_94delAA																																																																																						0.426	AC159540.1-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000328919.2			4	2	4	2	---	---	---	---
MAGI1	9223	broad.mit.edu	37	3	65415803	65415821	+	Splice_Site	DEL	ACAATCACATCCCCTGTAG	ACAATCACATCCCCTGTAG	-			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr3:65415803_65415821delACAATCACATCCCCTGTAG	ENST00000497477.2	-	12	1546_1558	c.1547_1559delCTACAGGGGATGTGATTGT	c.(1546-1560)gctacaggggatgtg>gg	p.ATGDV516fs	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Splice_Site_p.ATGDV516fs|MAGI1_ENST00000483466.1_Splice_Site_p.ATGDV516fs|MAGI1_ENST00000330909.8_Splice_Site_p.ATGDV516fs			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	516	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ATTCACACTTACAATCACATCCCCTGTAGAAGGCAAGAG	0.452																																						uc003dmn.2																			0				lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6						c.e12-1		membrane associated guanylate kinase, WW and PDZ																																				SO:0001630	splice_region_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65415803_65415821delACAATCACATCCCCTGTAG	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1547-1CTACAGGGGATGTGATTGT>-	3.37:g.65415803_65415821delACAATCACATCCCCTGTAG						MAGI1_uc003dmm.2_Splice_Site_p.G516_splice|MAGI1_uc003dmo.2_Splice_Site_p.G516_splice|MAGI1_uc003dmp.2_Splice_Site_p.G516_splice|MAGI1_uc010hny.2_Splice_Site_p.G401_splice	p.G516_splice	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	12	2073	-		Lung NSC(201;0.0016)						A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Splice_Site	DEL	ENST00000497477.2	37	c.1547_splice																																																																																						0.452	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742	Frame_Shift_Del	17	15	17	15	---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35740020	35740020	+	Splice_Site	DEL	G	G	-			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr5:35740020delG	ENST00000356031.3	+	22	3217		c.e22-1		SPEF2_ENST00000440995.2_Splice_Site|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2						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)		p.?(1)		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)			CCATTTAACAGGAAATGCCTT	0.353																																						uc003jjo.2																			1	Unknown(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.e22-1		KPL2 protein isoform 1							66.0	62.0	63.0					5																	35740020		1836	4089	5925	SO:0001630	splice_region_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35740020delG	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.3064-1G>-	5.37:g.35740020delG						SPEF2_uc003jjp.1_Splice_Site_p.E508_splice	p.E1022_splice	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		22	3175	+	all_lung(31;7.56e-05)							Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Splice_Site	DEL	ENST00000356031.3	37	c.3064_splice	CCDS43309.1																																																																																					0.353	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722	Intron	90	58	90	58	---	---	---	---
FAM69B	138311	broad.mit.edu	37	9	139616693	139616694	+	Frame_Shift_Ins	INS	-	-	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr9:139616693_139616694insA	ENST00000371692.4	+	4	519_520	c.423_424insA	c.(424-426)aagfs	p.K142fs	SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000414282.1_RNA|FAM69B_ENST00000371691.1_Frame_Shift_Ins_p.K55fs|SNHG7_ENST00000436596.1_RNA|SNHG7_ENST00000447221.1_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	142						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		TACTGTTTGACAAGCCCACCCG	0.634																																						uc004cik.2																			0					0						c.(421-426)GACAAGfs		hypothetical protein LOC138311																																				SO:0001589	frameshift_variant	138311					endoplasmic reticulum membrane|integral to membrane		g.chr9:139616693_139616694insA		CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940	ENST00000371692.4:c.425dupA	9.37:g.139616695_139616695dupA	ENSP00000360757:p.Lys142fs					FAM69B_uc004cil.2_Frame_Shift_Ins_p.D54fs|SNHG7_uc004cim.2_RNA	p.D141fs	NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)	4	517_518	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	141_142			Lumenal (Potential).		Q5VUD7|Q8N5N0|Q8WYU5	Frame_Shift_Ins	INS	ENST00000371692.4	37	c.423_424insA	CCDS7004.1																																																																																					0.634	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055102.1	NM_152421		66	40	66	40	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65265274	65265275	+	lincRNA	INS	-	-	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr11:65265274_65265275insA	ENST00000534336.1	+	0	42_43				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		CCTGCCCTCTTAAGCGCAGCGC	0.683																																						uc010roh.1																			0					0								Homo sapiens clone alpha1 mRNA sequence.																																						378938							g.chr11:65265274_65265275insA	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65265276_65265276dupA								NR_002819						1		+									RNA	INS	ENST00000534336.1	37	c.42_43insA																																																																																						0.683	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		74	64	74	64	---	---	---	---
ELMOD1	55531	broad.mit.edu	37	11	107502374	107502375	+	Frame_Shift_Ins	INS	-	-	A			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr11:107502374_107502375insA	ENST00000265840.7	+	5	526_527	c.261_262insA	c.(262-264)aaafs	p.K88fs	ELMOD1_ENST00000443271.2_Frame_Shift_Ins_p.K88fs|ELMOD1_ENST00000531234.1_Frame_Shift_Ins_p.K82fs	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	88					phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		TCATGGAACTGAAAAAAATTAA	0.356																																						uc010rvs.1																			0					0						c.(259-264)CTGAAAfs		ELMO/CED-12 domain containing 1 isoform 1																																				SO:0001589	frameshift_variant	55531				phagocytosis	cytoskeleton	GTPase activator activity	g.chr11:107502374_107502375insA	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.268dupA	11.37:g.107502381_107502381dupA	ENSP00000265840:p.Lys88fs					ELMOD1_uc001pjm.2_Frame_Shift_Ins_p.L87fs|ELMOD1_uc010rvt.1_Frame_Shift_Ins_p.L81fs	p.L87fs	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)	5	665_666	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	87_88					B4E167|G5E9S5|Q9NPW3	Frame_Shift_Ins	INS	ENST00000265840.7	37	c.261_262insA	CCDS44723.1																																																																																					0.356	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712		10	5	10	5	---	---	---	---
SLC17A8	246213	broad.mit.edu	37	12	100796198	100796200	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr12:100796198_100796200delGAG	ENST00000323346.5	+	7	1157_1159	c.844_846delGAG	c.(844-846)gagdel	p.E283del	snoU13_ENST00000459038.1_RNA|SLC17A8_ENST00000392989.3_In_Frame_Del_p.E283del	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	283					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						AATATCCAATGAGGAGAAGACCT	0.409																																						uc010svi.1																			0				ovary(3)	3						c.(844-846)GAGdel		solute carrier family 17 (sodium-dependent																																				SO:0001651	inframe_deletion	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100796198_100796200delGAG	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.844_846delGAG	12.37:g.100796201_100796203delGAG	ENSP00000316909:p.Glu283del					SLC17A8_uc009ztx.2_In_Frame_Del_p.E283del	p.E283del	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			7	1157_1159	+			283			Cytoplasmic (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	In_Frame_Del	DEL	ENST00000323346.5	37	c.844_846delGAG	CCDS9077.1																																																																																					0.409	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		52	35	52	35	---	---	---	---
ZFP36L1	677	broad.mit.edu	37	14	69256600	69256613	+	Frame_Shift_Del	DEL	GGCTGTCCAGCAGC	GGCTGTCCAGCAGC	-			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr14:69256600_69256613delGGCTGTCCAGCAGC	ENST00000439696.2	-	2	955_968	c.654_667delGCTGCTGGACAGCC	c.(652-669)gggctgctggacagccccfs	p.LLDSP219fs	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Del_p.LLDSP219fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	219					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATGGACGTGGGGCTGTCCAGCAGCCcggtggcag	0.664											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xkh.1																			0				ovary(1)	1						c.(652-669)GGGCTGCTGGACAGCCCCfs		butyrate response factor 1																																				SO:0001589	frameshift_variant	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256600_69256613delGGCTGTCCAGCAGC	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.654_667delGCTGCTGGACAGCC	14.37:g.69256600_69256613delGGCTGTCCAGCAGC	ENSP00000388402:p.Leu219fs		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_uc001xki.1_Frame_Shift_Del_p.G218fs	p.G218fs	NM_004926	NP_004917	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	784_797	-			218_223					Q13851	Frame_Shift_Del	DEL	ENST00000439696.2	37	c.654_667delGCTGCTGGACAGCC	CCDS9791.1																																																																																					0.664	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			122	58	122	58	---	---	---	---
IGHV7-27	28383	broad.mit.edu	37	14	106774086	106774087	+	IGR	INS	-	-	AGTAATACACGGCA	rs376590598		TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr14:106774086_106774087insAGTAATACACGGCA								IGHV2-26 (15970 upstream) : IGHV4-28 (6425 downstream)																							GCCTCTTGCACGTGTCCTCAGC	0.55																																						uc010tyt.1																			0					0						c.e430+1		Parts of antibodies, mostly variable regions.																																				SO:0001628	intergenic_variant	8755							g.chr14:106774086_106774087insAGTAATACACGGCA																													14.37:g.106774086_106774087insAGTAATACACGGCA														430		-									Splice_Site	INS		37	c.15674_splice																																																																																				0		0.550									11	5	11	5	---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42856450	42856450	+	Frame_Shift_Del	DEL	T	T	-			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chr19:42856450delT	ENST00000251268.6	+	19	3192	c.3192delT	c.(3190-3192)cctfs	p.P1064fs	MEGF8_ENST00000334370.4_Frame_Shift_Del_p.P997fs	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1064					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)				TGGCCCTCCCTGCCCGCTGGG	0.721																																						uc002otl.3																			0				ovary(1)	1						c.(2989-2991)CCTfs		multiple EGF-like-domains 8							7.0	7.0	7.0					19																	42856450		2176	4247	6423	SO:0001589	frameshift_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42856450delT	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.3192delT	19.37:g.42856450delT	ENSP00000251268:p.Pro1064fs					MEGF8_uc002otm.3_Frame_Shift_Del_p.P605fs	p.P997fs	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			18	3626	+		Prostate(69;0.00682)	1064			Extracellular (Potential).		A8KAY0|O75097	Frame_Shift_Del	DEL	ENST00000251268.6	37	c.2991delT																																																																																						0.721	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		9	8	9	8	---	---	---	---
ALG13	79868	broad.mit.edu	37	X	110970594	110970594	+	Frame_Shift_Del	DEL	C	C	-			TCGA-51-4080-01A-01D-1458-08	TCGA-51-4080-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2498ada2-b8d3-4220-8283-45af67a8119a	899abba0-6baf-487d-b913-ac6ffc6ac078	g.chrX:110970594delC	ENST00000394780.3	+	17	2023	c.2011delC	c.(2011-2013)ccgfs	p.P671fs	ALG13_ENST00000251943.4_Frame_Shift_Del_p.P567fs|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	671					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						GCACAACATGCCGGGCCCTAA	0.398																																						uc011msy.1																			0				lung(1)	1						c.(2011-2013)CCGfs		SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);							61.0	52.0	55.0					X																	110970594		1568	3582	5150	SO:0001589	frameshift_variant	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110970594delC	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2011delC	X.37:g.110970594delC	ENSP00000378260:p.Pro671fs					ALG13_uc011msx.1_Frame_Shift_Del_p.P567fs|ALG13_uc011msz.1_Frame_Shift_Del_p.P593fs|ALG13_uc011mta.1_Frame_Shift_Del_p.P567fs|ALG13_uc011mtb.1_Frame_Shift_Del_p.P567fs	p.P671fs			Q9NP73	ALG13_HUMAN			17	2045	+			671					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Frame_Shift_Del	DEL	ENST00000394780.3	37	c.2011delC	CCDS55477.1																																																																																					0.398	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		2	31	2	31	---	---	---	---
