#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
CHD5	26038	broad.mit.edu	37	1	6169927	6169927	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr1:6169927C>T	ENST00000262450.3	-	38	5605	c.5506G>A	c.(5506-5508)Gcc>Acc	p.A1836T	CHD5_ENST00000378021.1_Missense_Mutation_p.A693T	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.A1836T(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGGCTCTCGGCGAGGCACTCC	0.662																																						uc001amb.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(5506-5508)GCC>ACC		chromodomain helicase DNA binding protein 5							78.0	78.0	78.0					1																	6169927		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6169927C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5506G>A	1.37:g.6169927C>T	ENSP00000262450:p.Ala1836Thr					CHD5_uc001alz.1_Missense_Mutation_p.A693T|CHD5_uc001ama.1_RNA	p.A1836T	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	38	5606	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1836					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.5506G>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	c	37	6.365145	0.97507	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000377999	D;T	0.92965	-3.14;1.86	4.65	4.65	0.58169	CHD, C-terminal 2 (1);	0.000000	0.64402	D	0.000001	D	0.96131	0.8739	M	0.81239	2.535	0.80722	D	1	P;D	0.76494	0.683;0.999	B;D	0.83275	0.407;0.996	D	0.96838	0.9616	10	0.87932	D	0	-19.1569	17.8789	0.88834	0.0:1.0:0.0:0.0	.	1836;693	Q8TDI0;Q5TG85	CHD5_HUMAN;.	T	1836;693;693	ENSP00000262450:A1836T;ENSP00000367260:A693T	ENSP00000262450:A1836T	A	-	1	0	CHD5	6092514	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.680000	0.84062	2.276000	0.75962	0.511000	0.50034	GCC		PASS	0.662	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		28	18	28	18	---	---	---	---
RCC2	55920	broad.mit.edu	37	1	17740092	17740092	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr1:17740092C>A	ENST00000375436.4	-	9	1335	c.1148G>T	c.(1147-1149)gGg>gTg	p.G383V	AC004824.1_ENST00000583469.1_RNA|RCC2_ENST00000375433.3_Missense_Mutation_p.G383V	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	383					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)	p.G383V(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		AGCCCCACGCCCAGGGAAGTC	0.587																																						uc001bal.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1147-1149)GGG>GTG		regulator of chromosome condensation 2							76.0	80.0	79.0					1																	17740092		2203	4300	6503	SO:0001583	missense	55920				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle		g.chr1:17740092C>A		CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.1148G>T	1.37:g.17740092C>A	ENSP00000364585:p.Gly383Val					RCC2_uc001bam.2_Missense_Mutation_p.G383V	p.G383V	NM_001136204	NP_001129676	Q9P258	RCC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	8	1195	-		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	383			RCC1 5.		Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	ENST00000375436.4	37	c.1148G>T	CCDS181.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818741	0.90790	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	T;T	0.81078	-1.45;-1.45	5.4	5.4	0.78164	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.89312	0.6679	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89763	0.3948	10	0.66056	D	0.02	-26.8833	18.1015	0.89507	0.0:1.0:0.0:0.0	.	383	Q9P258	RCC2_HUMAN	V	383	ENSP00000364585:G383V;ENSP00000364582:G383V	ENSP00000364582:G383V	G	-	2	0	RCC2	17612679	1.000000	0.71417	0.281000	0.24762	0.802000	0.45316	7.789000	0.85783	2.687000	0.91594	0.655000	0.94253	GGG		PASS	0.587	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	NM_018715		5	59	5	59	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27105921	27105921	+	Nonsense_Mutation	SNP	G	G	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr1:27105921G>A	ENST00000324856.7	+	20	5903	c.5532G>A	c.(5530-5532)tgG>tgA	p.W1844*	ARID1A_ENST00000540690.1_Nonsense_Mutation_p.W172*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.W1627*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.W1461*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1844					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)	p.W1844*(1)	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)		TGCTGCACTGGCGGATTGGTG	0.577			"""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		1	Substitution - Nonsense(1)		lung(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(5530-5532)TGG>TGA		AT rich interactive domain 1A isoform a							92.0	85.0	88.0					1																	27105921		2203	4300	6503	SO:0001587	stop_gained	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.chr1:27105921G>A	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.5532G>A	1.37:g.27105921G>A	ENSP00000320485:p.Trp1844*					ARID1A_uc001bmu.1_Nonsense_Mutation_p.W1627*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.W690*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.W172*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.W86*	p.W1844*	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)	20	5905	+		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)	1844					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.5532G>A	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	9.963761|9.963761	0.99305|0.99305	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	.|.	.|.	.|.	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.45955|.	0.1368|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33752|.	-0.9856|.	4|.	.|0.02654	.|T	.|1	-4.4035|-4.4035	18.2689|18.2689	0.90062|0.90062	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	T|X	741|1844;1627;1461;172	.|.	.|ENSP00000320485:W1844X	A|W	+|+	1|3	0|0	ARID1A|ARID1A	26978508|26978508	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.028000|9.028000	0.93712|0.93712	2.620000|2.620000	0.88729|0.88729	0.491000|0.491000	0.48974|0.48974	GCG|TGG		PASS	0.577	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		41	15	41	15	---	---	---	---
FAM183A	440585	broad.mit.edu	37	1	43613721	43613721	+	Silent	SNP	C	C	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr1:43613721C>A	ENST00000335282.4	+	1	99	c.99C>A	c.(97-99)ctC>ctA	p.L33L	FAM183A_ENST00000410048.1_Intron|FAM183A_ENST00000409337.1_3'UTR	NM_001101376.2	NP_001094846.2	A6NL82	F183A_HUMAN	family with sequence similarity 183, member A	33								p.L33L(2)		kidney(1)|large_intestine(1)|lung(2)|ovary(3)	7						CCCAGAAACTCTACACGCAGT	0.607																																						uc009vwo.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(97-99)CTC>CTA		hCG23177							82.0	82.0	82.0					1																	43613721		1978	4151	6129	SO:0001819	synonymous_variant	440585							g.chr1:43613721C>A	AI192630, AI375550, AL139138	CCDS44126.1	1p34.2	2008-08-11			ENSG00000186973	ENSG00000186973			34347	protein-coding gene	gene with protein product						11181995	Standard	NM_001101376		Approved	LOC440585, hCG23177	uc009vwo.3	A6NL82	OTTHUMG00000007286	ENST00000335282.4:c.99C>A	1.37:g.43613721C>A							p.L33L	NM_001101376	NP_001094846	A6NL82	F183A_HUMAN			1	128	+			33					B7ZBL8	Silent	SNP	ENST00000335282.4	37	c.99C>A	CCDS44126.1																																																																																				PASS	0.607	FAM183A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019024.3	NM_001101376		4	29	4	29	---	---	---	---
ERI3	79033	broad.mit.edu	37	1	44804965	44804965	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr1:44804965C>A	ENST00000372257.2	-	3	422	c.241G>T	c.(241-243)Gca>Tca	p.A81S	ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_Intron	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	81							exonuclease activity (GO:0004527)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A81S(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGTAAAGGTGCTAGCATTGAA	0.373																																						uc001clt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(241-243)GCA>TCA		prion protein interacting protein							98.0	107.0	104.0					1																	44804965		2203	4300	6503	SO:0001583	missense	79033					intracellular	exonuclease activity|metal ion binding|nucleic acid binding	g.chr1:44804965C>A	AF007157	CCDS30696.1	1p34.1	2009-10-07	2009-10-07	2008-12-16	ENSG00000117419	ENSG00000117419		"""Enhanced RNAi three prime mRNA exonucleases"""	17276	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 3 (C.elegans)"", ""exoribonuclease 3"""	609917	"""prion protein interacting protein"""	PRNPIP			Standard	XM_005271184		Approved	FLJ22943, PINT1	uc001clt.3	O43414	OTTHUMG00000007637	ENST00000372257.2:c.241G>T	1.37:g.44804965C>A	ENSP00000361331:p.Ala81Ser					ERI3_uc010okv.1_Intron|ERI3_uc009vxg.2_Missense_Mutation_p.A81S|ERI3_uc010okw.1_Missense_Mutation_p.A3S|ERI3_uc001clu.2_Missense_Mutation_p.A3S	p.A81S	NM_024066	NP_076971	O43414	ERI3_HUMAN			3	482	-			81					B1AK98|Q5T2T7|Q5T2T9|Q5TG35|Q9BQA0|Q9UEB4	Missense_Mutation	SNP	ENST00000372257.2	37	c.241G>T	CCDS30696.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030357	0.75504	.	.	ENSG00000117419	ENST00000372257;ENST00000457571	.	.	.	6.17	6.17	0.99709	.	0.144296	0.47852	D	0.000215	T	0.51092	0.1654	N	0.14661	0.345	0.80722	D	1	D;P;D	0.64830	0.994;0.759;0.965	P;B;B	0.60789	0.879;0.16;0.331	T	0.39461	-0.9613	9	0.15499	T	0.54	.	15.581	0.76439	0.1377:0.8623:0.0:0.0	.	79;3;81	F6UGJ8;B4DN03;O43414	.;.;ERI3_HUMAN	S	81;79	.	ENSP00000361331:A81S	A	-	1	0	ERI3	44577552	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.366000	0.52343	2.941000	0.99782	0.655000	0.94253	GCA		PASS	0.373	ERI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020243.1	NM_024066		61	58	61	58	---	---	---	---
SSBP3	23648	broad.mit.edu	37	1	54722846	54722846	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr1:54722846G>A	ENST00000371320.3	-	7	871	c.461C>T	c.(460-462)cCg>cTg	p.P154L	SSBP3_ENST00000417664.2_Missense_Mutation_p.P44L|SSBP3_ENST00000357475.4_Intron|SSBP3_ENST00000371319.3_Missense_Mutation_p.P127L|SSBP3_ENST00000326956.7_5'UTR	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	154	Pro-rich.				head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)	p.P127L(1)|p.P154L(1)		central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						TGCGTATCGCGGTGACATAAA	0.517																																						uc001cxe.2																			2	Substitution - Missense(2)		lung(2)		0						c.(460-462)CCG>CTG		single stranded DNA binding protein 3 isoform a							77.0	59.0	65.0					1																	54722846		2203	4300	6503	SO:0001583	missense	23648				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding	g.chr1:54722846G>A		CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"""single-stranded DNA-binding protein 3"""			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.461C>T	1.37:g.54722846G>A	ENSP00000360371:p.Pro154Leu					SSBP3_uc001cxf.2_Intron|SSBP3_uc001cxg.2_Missense_Mutation_p.P127L	p.P154L	NM_145716	NP_663768	Q9BWW4	SSBP3_HUMAN			7	759	-			154			Pro-rich.		A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Missense_Mutation	SNP	ENST00000371320.3	37	c.461C>T	CCDS591.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771922	0.69992	.	.	ENSG00000157216	ENST00000417664;ENST00000371320;ENST00000371319;ENST00000525990	.	.	.	4.29	4.29	0.51040	.	0.000000	0.85682	U	0.000000	T	0.63082	0.2481	M	0.64080	1.96	0.80722	D	1	B;B	0.31989	0.061;0.35	B;B	0.34301	0.009;0.179	T	0.69269	-0.5189	9	0.72032	D	0.01	-2.5851	17.3259	0.87246	0.0:0.0:1.0:0.0	.	127;154	Q9BWW4-2;Q9BWW4	.;SSBP3_HUMAN	L	44;154;127;17	.	ENSP00000360370:P127L	P	-	2	0	SSBP3	54495434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.463000	0.90377	2.412000	0.81896	0.655000	0.94253	CCG		PASS	0.517	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022721.1	NM_018070		4	3	4	3	---	---	---	---
SGIP1	84251	broad.mit.edu	37	1	67147840	67147840	+	Missense_Mutation	SNP	G	G	A	rs143518805		TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr1:67147840G>A	ENST00000371037.4	+	15	1180	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.R372H|SGIP1_ENST00000371039.1_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	368	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.R368H(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GGGCCTCCTCGCAATGTACTA	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		17279	0.001		0.0	False		,,,				2504	0.0					uc001dcr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1102-1104)CGC>CAC		SH3-domain GRB2-like (endophilin) interacting		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	77.0	97.0	90.0		1103	3.3	1.0	1	dbSNP_134	90	2,8598	2.2+/-6.3	0,2,4298	no	missense	SGIP1	NM_032291.2	29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	368/829	67147840	3,13003	2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67147840G>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1103G>A	1.37:g.67147840G>A	ENSP00000360076:p.Arg368His					SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.R135H	p.R368H	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			15	1320	+			368			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1103G>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342526	0.61073	2.27E-4	2.33E-4	ENSG00000118473	ENST00000237247;ENST00000371038;ENST00000407289;ENST00000371037	T;T	0.16897	2.31;2.43	5.19	3.31	0.37934	.	0.426506	0.27673	N	0.018336	T	0.18718	0.0449	L	0.44542	1.39	0.80722	D	1	D;B	0.76494	0.999;0.0	D;B	0.74674	0.984;0.0	T	0.01015	-1.1480	10	0.45353	T	0.12	-5.3309	10.8156	0.46573	0.2125:0.0:0.7875:0.0	.	371;368	A6NEV3;Q9BQI5	.;SGIP1_HUMAN	H	372;371;371;368	ENSP00000237247:R372H;ENSP00000360076:R368H	ENSP00000237247:R372H	R	+	2	0	SGIP1	66920428	0.998000	0.40836	0.993000	0.49108	0.965000	0.64279	2.926000	0.48892	0.687000	0.31509	0.455000	0.32223	CGC		PASS	0.552	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		7	73	7	73	---	---	---	---
CTTNBP2NL	55917	broad.mit.edu	37	1	112999055	112999055	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr1:112999055C>A	ENST00000271277.6	+	6	1166	c.941C>A	c.(940-942)aCa>aAa	p.T314K		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	314					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)	p.T314K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTTGCCAAACAGAGAGTTTT	0.483																																						uc001ebx.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(940-942)ACA>AAA		CTTNBP2 N-terminal like							128.0	132.0	131.0					1																	112999055		2203	4300	6503	SO:0001583	missense	55917					actin cytoskeleton	protein binding	g.chr1:112999055C>A	AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.941C>A	1.37:g.112999055C>A	ENSP00000271277:p.Thr314Lys					CTTNBP2NL_uc001ebz.2_5'Flank	p.T314K	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1169	+		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)	314					B3KMS5|Q96B40	Missense_Mutation	SNP	ENST00000271277.6	37	c.941C>A	CCDS845.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793135	0.70452	.	.	ENSG00000143079	ENST00000271277	T	0.34859	1.34	5.88	5.88	0.94601	.	0.158335	0.56097	D	0.000037	T	0.54367	0.1854	M	0.76838	2.35	0.52501	D	0.99995	D	0.76494	0.999	D	0.63488	0.915	T	0.50268	-0.8848	10	0.41790	T	0.15	-16.8288	19.8373	0.96661	0.0:1.0:0.0:0.0	.	314	Q9P2B4	CT2NL_HUMAN	K	314	ENSP00000271277:T314K	ENSP00000271277:T314K	T	+	2	0	CTTNBP2NL	112800578	1.000000	0.71417	0.977000	0.42913	0.347000	0.29111	5.652000	0.67959	2.782000	0.95742	0.655000	0.94253	ACA		PASS	0.483	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		32	99	32	99	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197069780	197069780	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr1:197069780C>A	ENST00000367409.4	-	18	8857	c.8601G>T	c.(8599-8601)caG>caT	p.Q2867H	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2867	IQ 32. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.Q2867H(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TAAAATAATGCTGTAAAGTGA	0.393																																						uc001gtu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(8599-8601)CAG>CAT		asp (abnormal spindle)-like, microcephaly							49.0	51.0	51.0					1																	197069780		2202	4298	6500	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197069780C>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.8601G>T	1.37:g.197069780C>A	ENSP00000356379:p.Gln2867His					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.Q715H	p.Q2867H	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	8858	-			2867			IQ 32.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.8601G>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386930	0.25031	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	D	0.86297	-2.1	4.76	1.8	0.24995	.	0.082919	0.51477	D	0.000096	D	0.94827	0.8329	H	0.97265	3.97	0.09310	N	0.999991	D;D	0.89917	0.99;1.0	D;D	0.77557	0.964;0.99	D	0.87397	0.2367	10	0.87932	D	0	.	9.0401	0.36311	0.0:0.6686:0.0:0.3314	.	853;2867	E7EQ84;Q8IZT6	.;ASPM_HUMAN	H	2867;853	ENSP00000356379:Q2867H	ENSP00000356376:Q853H	Q	-	3	2	ASPM	195336403	0.309000	0.24518	0.230000	0.23976	0.040000	0.13550	0.840000	0.27600	0.535000	0.28714	0.563000	0.77884	CAG		PASS	0.393	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		20	8	20	8	---	---	---	---
OR2M2	391194	broad.mit.edu	37	1	248343383	248343383	+	Silent	SNP	G	G	C			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr1:248343383G>C	ENST00000359682.2	+	1	96	c.96G>C	c.(94-96)ctG>ctC	p.L32L		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L32L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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;0.0245)			TTCTGGTCCTGGGCATCTTTT	0.512																																						uc010pzf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(94-96)CTG>CTC		olfactory receptor, family 2, subfamily M,							277.0	267.0	271.0					1																	248343383		2203	4300	6503	SO:0001819	synonymous_variant	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343383G>C	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.96G>C	1.37:g.248343383G>C							p.L32L	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	96	+	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)		32			Helical; Name=1; (Potential).		A3KFT4	Silent	SNP	ENST00000359682.2	37	c.96G>C	CCDS31106.1																																																																																				PASS	0.512	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		71	62	71	62	---	---	---	---
RNF144A	9781	broad.mit.edu	37	2	7137169	7137169	+	Missense_Mutation	SNP	T	T	C			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr2:7137169T>C	ENST00000320892.6	+	3	554	c.112T>C	c.(112-114)Tgc>Cgc	p.C38R	RNF144A_ENST00000467276.1_Intron	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	38					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.C38R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		CATAGCCCAGTGCCAATGCAT	0.493																																						uc002qys.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(112-114)TGC>CGC		ring finger protein 144							163.0	143.0	150.0					2																	7137169		2203	4300	6503	SO:0001583	missense	9781					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	g.chr2:7137169T>C	D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"""RING-type (C3HC4) zinc fingers"""	20457	protein-coding gene	gene with protein product			"""ring finger protein 144"""	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.112T>C	2.37:g.7137169T>C	ENSP00000321330:p.Cys38Arg					RNF144A_uc002qyt.2_Intron	p.C38R	NM_014746	NP_055561	P50876	R144A_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.195)	3	554	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)	38			RING-type 1; atypical.		D6W4Y6|Q585H5	Missense_Mutation	SNP	ENST00000320892.6	37	c.112T>C	CCDS1657.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.143675	0.77888	.	.	ENSG00000151692	ENST00000320892;ENST00000427092;ENST00000416587;ENST00000433456	T;T;T	0.52057	0.68;1.01;1.01	5.62	5.62	0.85841	Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	T	0.71264	0.3319	M	0.83312	2.635	0.80722	D	1	D	0.57571	0.98	D	0.71656	0.974	T	0.76138	-0.3069	10	0.87932	D	0	.	16.1189	0.81329	0.0:0.0:0.0:1.0	.	38	P50876	R144A_HUMAN	R	38	ENSP00000321330:C38R;ENSP00000414420:C38R;ENSP00000402645:C38R	ENSP00000321330:C38R	C	+	1	0	RNF144A	7054620	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.555000	0.82223	2.263000	0.75096	0.533000	0.62120	TGC		PASS	0.493	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746		25	50	25	50	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73826590	73826590	+	Silent	SNP	A	A	C	rs188172095	byFrequency	TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr2:73826590A>C	ENST00000264448.6	+	17	11718	c.11607A>C	c.(11605-11607)tcA>tcC	p.S3869S	ALMS1_ENST00000409009.1_Silent_p.S3827S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3869					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.S3869S(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCCTGAGCTCAAACTCTACTT	0.338																																						uc002sje.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(11611-11613)TCA>TCC		Alstrom syndrome 1							198.0	181.0	186.0					2																	73826590		1848	4101	5949	SO:0001819	synonymous_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73826590A>C	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.11607A>C	2.37:g.73826590A>C						ALMS1_uc002sjf.1_Silent_p.S3827S|ALMS1_uc002sjh.1_Silent_p.S3257S	p.S3871S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			19	11724	+			3869					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.11613A>C	CCDS42697.1																																																																																				PASS	0.338	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		14	123	14	123	---	---	---	---
KIAA1211L	343990	broad.mit.edu	37	2	99454634	99454634	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr2:99454634C>T	ENST00000397899.2	-	3	518	c.187G>A	c.(187-189)Gtc>Atc	p.V63I	RNU7-46P_ENST00000459066.1_RNA|KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	63								p.V63I(1)									ATGGCAATGACCTCATTCCTC	0.473																																						uc002szf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(187-189)GTC>ATC		hypothetical protein LOC343990							110.0	109.0	109.0					2																	99454634		2037	4177	6214	SO:0001583	missense	343990							g.chr2:99454634C>T	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.187G>A	2.37:g.99454634C>T	ENSP00000380996:p.Val63Ile						p.V63I	NM_207362	NP_997245	Q6NV74	CB055_HUMAN			3	481	-			63						Missense_Mutation	SNP	ENST00000397899.2	37	c.187G>A	CCDS42720.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713070	0.48517	.	.	ENSG00000196872	ENST00000397899;ENST00000423771;ENST00000428096;ENST00000415261	T	0.51817	0.69	5.45	3.63	0.41609	.	0.158257	0.30011	N	0.010622	T	0.44052	0.1275	L	0.43152	1.355	0.21290	N	0.999733	P	0.52316	0.952	P	0.47299	0.543	T	0.28235	-1.0050	10	0.45353	T	0.12	-6.4148	10.32	0.43760	0.0:0.7909:0.1359:0.0731	.	63	Q6NV74	CB055_HUMAN	I	63;91;77;77	ENSP00000380996:V63I	ENSP00000380996:V63I	V	-	1	0	C2orf55	98821066	1.000000	0.71417	0.993000	0.49108	0.973000	0.67179	2.704000	0.47118	0.828000	0.34709	0.655000	0.94253	GTC		PASS	0.473	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		4	22	4	22	---	---	---	---
HS6ST1	9394	broad.mit.edu	37	2	129026360	129026360	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr2:129026360C>A	ENST00000259241.6	-	2	625	c.612G>T	c.(610-612)tgG>tgT	p.W204C		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	204					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)	p.W204C(1)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		ACGACGTCTTCCACGTGGCAC	0.642																																						uc002tpt.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(610-612)TGG>TGT		heparan sulfate 6-O-sulfotransferase 1							36.0	41.0	39.0					2																	129026360		2133	4245	6378	SO:0001583	missense	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026360C>A	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.612G>T	2.37:g.129026360C>A	ENSP00000259241:p.Trp204Cys						p.W204C	NM_004807	NP_004798	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	646	-	Colorectal(110;0.1)		204			Lumenal (Potential).		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	c.612G>T	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.526726	0.64860	.	.	ENSG00000136720	ENST00000259241	T	0.75260	-0.92	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.88851	0.6549	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91018	0.4855	9	.	.	.	.	17.9666	0.89101	0.0:1.0:0.0:0.0	.	204	O60243	H6ST1_HUMAN	C	204	ENSP00000259241:W204C	.	W	-	3	0	HS6ST1	128742830	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	7.487000	0.81328	2.235000	0.73313	0.462000	0.41574	TGG		PASS	0.642	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		9	21	9	21	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	138030108	138030108	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr2:138030108G>A	ENST00000409968.1	+	11	2450	c.2272G>A	c.(2272-2274)Gcc>Acc	p.A758T	THSD7B_ENST00000413152.2_Missense_Mutation_p.A727T|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.A758T			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	758	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.A758T(1)|p.A727T(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTCAGGAAATGCCACAGTAAA	0.383																																						uc002tva.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(2179-2181)GCC>ACC		thrombospondin, type I, domain containing 7B							89.0	82.0	85.0					2																	138030108		1885	4104	5989	SO:0001583	missense	80731							g.chr2:138030108G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2272G>A	2.37:g.138030108G>A	ENSP00000387145:p.Ala758Thr					THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.A617T	p.A727T	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	10	2179	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.2179G>A		.	.	.	.	.	.	.	.	.	.	G	11.06	1.527063	0.27299	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.22945	2.45;2.33;1.93	5.72	-0.724	0.11177	.	0.576569	0.19177	N	0.120785	T	0.12603	0.0306	N	0.17082	0.46	0.80722	D	1	B;B	0.17667	0.023;0.011	B;B	0.30782	0.12;0.033	T	0.23084	-1.0198	10	0.11794	T	0.64	.	5.6229	0.17467	0.3604:0.0:0.5124:0.1272	.	758;727	Q9C0I4;C9JKN6	THS7B_HUMAN;.	T	758;758;727	ENSP00000387145:A758T;ENSP00000272643:A758T;ENSP00000413841:A727T	ENSP00000272643:A758T	A	+	1	0	THSD7B	137746578	0.989000	0.36119	0.889000	0.34880	0.657000	0.38888	1.222000	0.32515	-0.480000	0.06803	-0.345000	0.07892	GCC		PASS	0.383	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		11	21	11	21	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	142004811	142004811	+	Silent	SNP	A	A	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr2:142004811A>T	ENST00000389484.3	-	5	1547	c.576T>A	c.(574-576)tcT>tcA	p.S192S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	192	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.S192S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAGCCTTGCAAGATCTGTTGT	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - coding silent(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(574-576)TCT>TCA		low density lipoprotein-related protein 1B							141.0	128.0	133.0					2																	142004811		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:142004811A>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.576T>A	2.37:g.142004811A>T		TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.S192S	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	5	1548	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	192			Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.576T>A	CCDS2182.1																																																																																				PASS	0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		16	37	16	37	---	---	---	---
MBD5	55777	broad.mit.edu	37	2	149240909	149240909	+	Missense_Mutation	SNP	A	A	G			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr2:149240909A>G	ENST00000407073.1	+	10	3746	c.2749A>G	c.(2749-2751)Agc>Ggc	p.S917G	MBD5_ENST00000404807.1_Missense_Mutation_p.S917G	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	917					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.S917G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CTTGAACCCCAGCCTCCTCAG	0.468																																						uc002twm.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(2749-2751)AGC>GGC		methyl-CpG binding domain protein 5							245.0	238.0	240.0					2																	149240909		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149240909A>G	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2749A>G	2.37:g.149240909A>G	ENSP00000386049:p.Ser917Gly					MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.S917G|MBD5_uc002two.2_5'Flank|MBD5_uc002twp.2_5'Flank	p.S917G	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	10	3737	+			917					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.2749A>G	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	A	12.38	1.919990	0.33908	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.48522	0.81;0.83	5.66	5.66	0.87406	.	0.074746	0.56097	D	0.000021	T	0.29491	0.0735	N	0.08118	0	0.40057	D	0.975856	B	0.22683	0.073	B	0.21917	0.037	T	0.14448	-1.0472	10	0.19590	T	0.45	-7.8544	15.8834	0.79222	1.0:0.0:0.0:0.0	.	917	Q9P267	MBD5_HUMAN	G	917	ENSP00000386049:S917G;ENSP00000384672:S917G	ENSP00000384672:S917G	S	+	1	0	MBD5	148957379	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.778000	0.75043	2.158000	0.67659	0.379000	0.24179	AGC		PASS	0.468	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			52	83	52	83	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168106268	168106268	+	Missense_Mutation	SNP	T	T	C			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr2:168106268T>C	ENST00000409195.1	+	9	8455	c.8366T>C	c.(8365-8367)aTa>aCa	p.I2789T	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.I2567T|XIRP2_ENST00000295237.9_Missense_Mutation_p.I2789T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2614					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.I2789T(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						ACAGAATCCATACAGAAGAAC	0.408																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(8365-8367)ATA>ACA		xin actin-binding repeat containing 2 isoform 1							66.0	64.0	65.0					2																	168106268		1873	4106	5979	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106268T>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.8366T>C	2.37:g.168106268T>C	ENSP00000386840:p.Ile2789Thr					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.I2614T|XIRP2_uc010fpq.2_Missense_Mutation_p.I2567T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.I135T	p.I2789T	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	8384	+			2614					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.8366T>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	0.767	-0.767236	0.02974	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02323	4.34;4.34;4.34	6.17	0.963	0.19649	.	1.512650	0.03575	N	0.229242	T	0.01454	0.0047	N	0.03115	-0.41	0.20489	N	0.999891	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.44952	-0.9294	10	0.14252	T	0.57	-0.0065	2.2411	0.04020	0.2357:0.4019:0.2225:0.1399	.	2614;2614;2567	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	2789;2789;2567;203	ENSP00000386840:I2789T;ENSP00000295237:I2789T;ENSP00000387255:I2567T	ENSP00000295237:I2789T	I	+	2	0	XIRP2	167814514	0.000000	0.05858	0.046000	0.18839	0.252000	0.25951	-0.573000	0.05874	0.144000	0.18951	-0.242000	0.12053	ATA		PASS	0.408	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		38	48	38	48	---	---	---	---
ITGA6	3655	broad.mit.edu	37	2	173356152	173356152	+	Splice_Site	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr2:173356152G>T	ENST00000264106.6	+	24	3209		c.e24-1		ITGA6_ENST00000375221.2_Splice_Site|ITGA6_ENST00000409532.1_Splice_Site|ITGA6_ENST00000409080.1_Splice_Site|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264107.7_Splice_Site|ITGA6_ENST00000343713.4_Splice_Site			P23229	ITA6_HUMAN	integrin, alpha 6						amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.?(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TCTCCAAACAGGAATATTCCA	0.463																																						uc002uhp.1																			2	Unknown(2)		lung(2)	ovary(1)|lung(1)	2						c.e23-1		integrin alpha chain, alpha 6 isoform a							93.0	84.0	87.0					2																	173356152		2203	4300	6503	SO:0001630	splice_region_variant	3655				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173356152G>T		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.3007-1G>T	2.37:g.173356152G>T						ITGA6_uc010zdy.1_Splice_Site_p.E845_splice|ITGA6_uc002uho.1_Splice_Site_p.E964_splice|ITGA6_uc010fqm.1_Splice_Site_p.E595_splice	p.E964_splice	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		23	3093	+								B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Splice_Site	SNP	ENST00000264106.6	37	c.2890_splice		.	.	.	.	.	.	.	.	.	.	G	17.27	3.348155	0.61183	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358;ENST00000416789	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7456	0.91791	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGA6	173064398	1.000000	0.71417	0.998000	0.56505	0.705000	0.40729	8.573000	0.90759	2.432000	0.82394	0.467000	0.42956	.		PASS	0.463	ITGA6-201	KNOWN	basic	protein_coding	protein_coding			Intron	4	41	4	41	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179393645	179393645	+	Silent	SNP	T	T	C			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr2:179393645T>C	ENST00000591111.1	-	310	102134	c.101910A>G	c.(101908-101910)gcA>gcG	p.A33970A	TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Silent_p.A26738A|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.A26671A|TTN_ENST00000460472.2_Silent_p.A26546A|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000589042.1_Silent_p.A35611A|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342992.6_Silent_p.A33043A|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588257.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33970	Ig-like 150.				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.A33043A(1)|p.A26671A(1)|p.A33041A(1)|p.A26738A(1)|p.A26546A(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)			GAGTAGAAAATGCTTTAATCT	0.423																																						uc010zfg.1																			5	Substitution - coding silent(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.(99127-99129)GCA>GCG		titin isoform N2-A							157.0	146.0	149.0					2																	179393645		1925	4129	6054	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179393645T>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.101910A>G	2.37:g.179393645T>C						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A26738A|TTN_uc010zfi.1_Silent_p.A26671A|TTN_uc010zfj.1_Silent_p.A26546A|TTN_uc002umq.2_Silent_p.A60A	p.A33043A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		309	99353	-			33970					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.99129A>G																																																																																					PASS	0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	58	18	58	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179571295	179571295	+	Missense_Mutation	SNP	T	T	C			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr2:179571295T>C	ENST00000591111.1	-	100	28579	c.28355A>G	c.(28354-28356)tAc>tGc	p.Y9452C	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y9769C|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y8525C|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13548	Ig-like 77.				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.Y8525C(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)			CACGCATCGGTATAACCCAGA	0.413																																						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.(25573-25575)TAC>TGC		titin isoform N2-A							184.0	174.0	177.0					2																	179571295		1915	4133	6048	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179571295T>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.28355A>G	2.37:g.179571295T>C	ENSP00000465570:p.Tyr9452Cys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Y5186C	p.Y8525C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		99	25798	-			9452					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.25574A>G		.	.	.	.	.	.	.	.	.	.	T	9.962	1.223145	0.22457	.	.	ENSG00000155657	ENST00000342992	T	0.79554	-1.28	5.92	5.92	0.95590	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92890	0.7738	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94805	0.7974	9	0.87932	D	0	.	16.358	0.83243	0.0:0.0:0.0:1.0	.	9452	Q8WZ42	TITIN_HUMAN	C	8525	ENSP00000343764:Y8525C	ENSP00000343764:Y8525C	Y	-	2	0	TTN	179279540	1.000000	0.71417	0.320000	0.25306	0.015000	0.08874	8.040000	0.89188	2.260000	0.74910	0.528000	0.53228	TAC		PASS	0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		109	87	109	87	---	---	---	---
GRM2	2912	broad.mit.edu	37	3	51747147	51747147	+	Missense_Mutation	SNP	T	T	C			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr3:51747147T>C	ENST00000395052.3	+	3	1343	c.1109T>C	c.(1108-1110)gTg>gCg	p.V370A	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.V370A	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	370					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.V370A(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTCCGGGCTGTGCCCTTTGAG	0.607																																						uc010hlv.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1108-1110)GTG>GCG		glutamate receptor, metabotropic 2 isoform a	Acamprosate(DB00659)|Nicotine(DB00184)						49.0	40.0	43.0					3																	51747147		2203	4299	6502	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51747147T>C	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1109T>C	3.37:g.51747147T>C	ENSP00000378492:p.Val370Ala					GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	p.V370A	NM_000839	NP_000830	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	1348	+			370			Extracellular (Potential).		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.1109T>C	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	T	8.920	0.960879	0.18583	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.85955	-2.05;-2.05	4.95	2.38	0.29361	Extracellular ligand-binding receptor (1);	0.124501	0.51477	D	0.000082	T	0.71358	0.3330	N	0.20685	0.6	0.20873	N	0.999836	B	0.02656	0.0	B	0.06405	0.002	T	0.58109	-0.7694	10	0.31617	T	0.26	.	8.4358	0.32786	0.0:0.0845:0.192:0.7235	.	370	Q14416	GRM2_HUMAN	A	370	ENSP00000378492:V370A;ENSP00000408906:V370A	ENSP00000296479:V370A	V	+	2	0	GRM2	51722187	0.978000	0.34361	0.983000	0.44433	0.796000	0.44982	0.740000	0.26188	0.860000	0.35481	0.454000	0.30748	GTG		PASS	0.607	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			14	11	14	11	---	---	---	---
FILIP1L	11259	broad.mit.edu	37	3	99567816	99567816	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr3:99567816G>A	ENST00000354552.3	-	5	3174	c.2704C>T	c.(2704-2706)Ctt>Ttt	p.L902F	FILIP1L_ENST00000487087.1_Missense_Mutation_p.L478F|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.L902F|FILIP1L_ENST00000383694.2_Missense_Mutation_p.L662F|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.L662F|CMSS1_ENST00000496116.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	902						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.L902F(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTTATATGAAGTGGCTGCCCA	0.463																																						uc003dtm.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2704-2706)CTT>TTT		filamin A interacting protein 1-like isoform 1							213.0	209.0	210.0					3																	99567816		2011	4180	6191	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99567816G>A		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2704C>T	3.37:g.99567816G>A	ENSP00000346560:p.Leu902Phe					C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.L902F|FILIP1L_uc010hpf.2_Missense_Mutation_p.L478F|FILIP1L_uc010hpg.2_Missense_Mutation_p.L662F|FILIP1L_uc003dtn.2_Missense_Mutation_p.L662F|FILIP1L_uc003dtp.1_Missense_Mutation_p.L662F	p.L902F	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN			5	3167	-			902					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.2704C>T	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919733	0.52653	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.38077	1.47;1.16;1.16;1.47;1.16;1.2	6.11	6.11	0.99139	.	0.000000	0.47093	D	0.000247	T	0.55816	0.1944	L	0.59436	1.845	0.47511	D	0.999445	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.946	T	0.55127	-0.8189	10	0.87932	D	0	-10.0862	13.8679	0.63600	0.0692:0.0:0.9308:0.0	.	902;902	Q4L180-2;Q4L180	.;FIL1L_HUMAN	F	902;478;662;902;662;648;662	ENSP00000346560:L902F;ENSP00000417774:L478F;ENSP00000419642:L662F;ENSP00000327880:L902F;ENSP00000373192:L662F;ENSP00000419874:L662F	ENSP00000327880:L902F	L	-	1	0	FILIP1L	101050506	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.667000	0.68067	2.907000	0.99374	0.609000	0.83330	CTT		PASS	0.463	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		88	83	88	83	---	---	---	---
TFG	10342	broad.mit.edu	37	3	100447602	100447602	+	Silent	SNP	C	C	G			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr3:100447602C>G	ENST00000240851.4	+	4	655	c.315C>G	c.(313-315)ctC>ctG	p.L105L	TFG_ENST00000418917.2_Silent_p.L105L|TFG_ENST00000490574.1_Silent_p.L105L|TFG_ENST00000476228.1_Silent_p.L105L	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	105					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)	p.L105L(1)	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						TGAAATATCTCCGTCGAGAAC	0.368			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																	uc003due.2				Dom	yes		3	3q11-q12	10342	T	TRK-fused gene			"""E, L"""	NTRK1|ALK		papillary thyroid|ALCL|NSCLC	TFG/ALK(7)	1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1)	11						c.(313-315)CTC>CTG		TRK-fused							77.0	78.0	77.0					3																	100447602		2203	4300	6503	SO:0001819	synonymous_variant	10342				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity	g.chr3:100447602C>G	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.315C>G	3.37:g.100447602C>G						TFG_uc003duf.2_Silent_p.L105L|TFG_uc003dug.2_Silent_p.L105L|TFG_uc003duh.2_Silent_p.L105L|TFG_uc003dui.2_Silent_p.L105L	p.L105L	NM_006070	NP_006061	Q92734	TFG_HUMAN			4	764	+			105			Potential.		D3DN49|G5E9V1|Q15656|Q969I2	Silent	SNP	ENST00000240851.4	37	c.315C>G	CCDS2939.1																																																																																				PASS	0.368	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070		24	77	24	77	---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113377278	113377278	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr3:113377278G>A	ENST00000478658.1	-	5	3268	c.3251C>T	c.(3250-3252)gCc>gTc	p.A1084V	KIAA2018_ENST00000316407.4_Missense_Mutation_p.A1084V|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1084						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.A1084V(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGGAGAGTCGGCCTGTCTACC	0.453																																						uc003eam.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(3250-3252)GCC>GTC		hypothetical protein LOC205717							149.0	138.0	142.0					3																	113377278		1995	4161	6156	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113377278G>A	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.3251C>T	3.37:g.113377278G>A	ENSP00000420721:p.Ala1084Val					KIAA2018_uc003eal.2_Missense_Mutation_p.A1028V	p.A1084V	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			7	3662	-			1084					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.3251C>T	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759298	0.49468	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.16743	2.32;2.32	5.1	4.16	0.48862	.	0.187006	0.47455	D	0.000230	T	0.12944	0.0314	L	0.27053	0.805	0.41117	D	0.985787	B	0.31680	0.335	B	0.30401	0.115	T	0.11616	-1.0580	10	0.35671	T	0.21	-8.2419	14.331	0.66556	0.0:0.0:0.8512:0.1488	.	1084	Q68DE3	K2018_HUMAN	V	1084	ENSP00000320794:A1084V;ENSP00000420721:A1084V	ENSP00000320794:A1084V	A	-	2	0	KIAA2018	114859968	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	7.451000	0.80668	2.382000	0.81193	0.555000	0.69702	GCC		PASS	0.453	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		43	97	43	97	---	---	---	---
CLSTN2	64084	broad.mit.edu	37	3	140281051	140281051	+	Missense_Mutation	SNP	G	G	T	rs534551433		TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr3:140281051G>T	ENST00000458420.3	+	13	2303	c.2113G>T	c.(2113-2115)Gac>Tac	p.D705Y		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	705					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.D705Y(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						GATCGGAGGGGACTTGGACCC	0.493										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.(2113-2115)GAC>TAC		calsyntenin 2 precursor							109.0	105.0	106.0					3																	140281051		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140281051G>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.2113G>T	3.37:g.140281051G>T	ENSP00000402460:p.Asp705Tyr	HNSCC(16;0.037)					p.D705Y	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			13	2303	+			705			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.2113G>T	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698190	0.68386	.	.	ENSG00000158258	ENST00000458420	T	0.31769	1.48	5.43	4.56	0.56223	.	0.043952	0.85682	D	0.000000	T	0.29556	0.0737	L	0.42245	1.32	0.48762	D	0.999706	P	0.49447	0.924	P	0.44732	0.459	T	0.02789	-1.1110	9	.	.	.	-26.0624	12.2121	0.54386	0.0832:0.0:0.9168:0.0	.	705	Q9H4D0	CSTN2_HUMAN	Y	705	ENSP00000402460:D705Y	.	D	+	1	0	CLSTN2	141763741	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	9.476000	0.97823	1.445000	0.47624	0.655000	0.94253	GAC		PASS	0.493	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		25	66	25	66	---	---	---	---
SLC9A9	285195	broad.mit.edu	37	3	143412129	143412129	+	Missense_Mutation	SNP	A	A	G	rs199812035		TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr3:143412129A>G	ENST00000316549.6	-	5	762	c.554T>C	c.(553-555)gTg>gCg	p.V185A		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	185					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.V185A(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CATAGCCTTCACAAAACCATA	0.378																																						uc003evn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(553-555)GTG>GCG		solute carrier family 9 (sodium/hydrogen							92.0	90.0	91.0					3																	143412129		2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143412129A>G	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.554T>C	3.37:g.143412129A>G	ENSP00000320246:p.Val185Ala					SLC9A9_uc011bnk.1_Missense_Mutation_p.V59A	p.V185A	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN			5	736	-			185			Helical; (Potential).		A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.554T>C	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.340178	0.81911	.	.	ENSG00000181804	ENST00000316549;ENST00000450105	T	0.59083	0.29	5.53	5.53	0.82687	Cation/H+ exchanger (1);	0.199513	0.34531	N	0.003881	T	0.69088	0.3072	L	0.47716	1.5	0.54753	D	0.999987	D	0.63046	0.992	D	0.77004	0.989	T	0.65772	-0.6087	10	0.28530	T	0.3	.	15.64	0.76989	1.0:0.0:0.0:0.0	.	185	Q8IVB4	SL9A9_HUMAN	A	185;68	ENSP00000320246:V185A	ENSP00000320246:V185A	V	-	2	0	SLC9A9	144894819	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.951000	0.87819	2.100000	0.63781	0.528000	0.53228	GTG		PASS	0.378	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		11	64	11	64	---	---	---	---
DHX36	170506	broad.mit.edu	37	3	154017707	154017707	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr3:154017707G>A	ENST00000496811.1	-	12	1549	c.1469C>T	c.(1468-1470)gCg>gTg	p.A490V	DHX36_ENST00000544526.1_Missense_Mutation_p.A490V|DHX36_ENST00000329463.5_Missense_Mutation_p.A490V|DHX36_ENST00000308361.6_Missense_Mutation_p.A490V	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	490	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)	p.A490V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GACCAGTATCGCACCATCCTA	0.358																																						uc003ezy.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1468-1470)GCG>GTG		DEAH (Asp-Glu-Ala-His) box polypeptide 36							93.0	90.0	91.0					3																	154017707		2203	4300	6503	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154017707G>A	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.1469C>T	3.37:g.154017707G>A	ENSP00000417078:p.Ala490Val					DHX36_uc010hvq.2_Missense_Mutation_p.A490V|DHX36_uc003ezz.3_Missense_Mutation_p.A490V	p.A490V	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		12	1550	-			490			Helicase C-terminal.		B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.1469C>T	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.351694	0.95830	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.03496	3.91;3.91;3.91;3.91;3.91	5.59	5.59	0.84812	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.26376	0.0644	M	0.90759	3.145	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	T	0.05338	-1.0891	10	0.87932	D	0	.	19.6005	0.95560	0.0:0.0:1.0:0.0	.	490;490;490	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	V	490;490;490;490;404	ENSP00000417078:A490V;ENSP00000309296:A490V;ENSP00000444247:A490V;ENSP00000330113:A490V;ENSP00000419862:A404V	ENSP00000309296:A490V	A	-	2	0	DHX36	155500401	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	9.455000	0.97625	2.634000	0.89283	0.655000	0.94253	GCG		PASS	0.358	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		7	71	7	71	---	---	---	---
IFT80	57560	broad.mit.edu	37	3	159995188	159995188	+	Missense_Mutation	SNP	T	T	G			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr3:159995188T>G	ENST00000326448.7	-	18	2437	c.2005A>C	c.(2005-2007)Agt>Cgt	p.S669R	IFT80_ENST00000483465.1_Missense_Mutation_p.S532R|IFT80_ENST00000496589.1_Missense_Mutation_p.S532R|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.S840R	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	669					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)		p.S669C(1)|p.S669R(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATGTTCCCACTAAACAGTAGT	0.328																																						uc011boy.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2005-2007)AGT>CGT		WD repeat domain 56							97.0	97.0	97.0					3																	159995188		2203	4300	6503	SO:0001583	missense	57560					cilium axoneme|microtubule basal body		g.chr3:159995188T>G	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.2005A>C	3.37:g.159995188T>G	ENSP00000312778:p.Ser669Arg					IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Missense_Mutation_p.S532R|IFT80_uc003fdd.1_Missense_Mutation_p.S352R|IFT80_uc003fde.1_Missense_Mutation_p.S532R	p.S669R	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		18	2438	-			669					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	c.2005A>C	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	T	17.65	3.442651	0.63067	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589	D;D;D	0.82433	-1.61;-1.61;-1.61	5.36	5.36	0.76844	.	0.000000	0.64402	U	0.000001	T	0.75997	0.3926	L	0.42529	1.33	0.80722	D	1	B	0.21381	0.055	B	0.12837	0.008	T	0.70920	-0.4741	10	0.11794	T	0.64	-16.4625	15.3573	0.74437	0.0:0.0:0.0:1.0	.	669	Q9P2H3	IFT80_HUMAN	R	669;532;532	ENSP00000312778:S669R;ENSP00000418196:S532R;ENSP00000420646:S532R	ENSP00000312778:S669R	S	-	1	0	IFT80	161477882	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	5.769000	0.68865	2.012000	0.59069	0.533000	0.62120	AGT		PASS	0.328	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		47	81	47	81	---	---	---	---
MECOM	2122	broad.mit.edu	37	3	168810803	168810803	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr3:168810803C>A	ENST00000464456.1	-	12	3716	c.2516G>T	c.(2515-2517)cGa>cTa	p.R839L	MECOM_ENST00000468789.1_Missense_Mutation_p.R848L|MECOM_ENST00000460814.1_Missense_Mutation_p.R839L|MECOM_ENST00000494292.1_Missense_Mutation_p.R1027L|MECOM_ENST00000472280.1_Missense_Mutation_p.R849L|MECOM_ENST00000433243.2_Missense_Mutation_p.R849L|MECOM_ENST00000264674.3_Missense_Mutation_p.R913L|MECOM_ENST00000392736.3_Missense_Mutation_p.R848L	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R848L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AATGAAATTTCGAATTTCTGT	0.443																																						uc003ffi.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(2542-2544)CGA>CTA		MDS1 and EVI1 complex locus isoform b							133.0	118.0	123.0					3																	168810803		2203	4300	6503	SO:0001583	missense	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168810803C>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2516G>T	3.37:g.168810803C>A	ENSP00000419770:p.Arg839Leu					MECOM_uc010hwk.1_Missense_Mutation_p.R862L|MECOM_uc003ffj.3_Missense_Mutation_p.R913L|MECOM_uc011bpi.1_Missense_Mutation_p.R840L|MECOM_uc003ffn.3_Missense_Mutation_p.R848L|MECOM_uc003ffk.2_Missense_Mutation_p.R839L|MECOM_uc003ffl.2_Missense_Mutation_p.R999L|MECOM_uc011bpj.1_Missense_Mutation_p.R1036L|MECOM_uc011bpk.1_Missense_Mutation_p.R838L	p.R848L	NM_005241	NP_005232	Q03112	EVI1_HUMAN			13	2812	-			848					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2543G>T	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684386	0.68157	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.08008	3.19;3.18;3.15;3.28;3.15;3.18;3.14;3.28	5.41	5.41	0.78517	.	0.649498	0.13033	N	0.419189	T	0.23688	0.0573	L	0.36672	1.1	0.58432	D	0.999999	D;D;D;D;D	0.76494	0.997;0.99;0.999;0.99;0.994	D;P;D;P;D	0.74674	0.982;0.736;0.984;0.736;0.959	T	0.01492	-1.1341	10	0.87932	D	0	-7.7743	19.2024	0.93715	0.0:1.0:0.0:0.0	.	1036;840;1027;913;848	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	L	913;848;839;849;1027;848;839;849	ENSP00000264674:R913L;ENSP00000376493:R848L;ENSP00000419770:R839L;ENSP00000420048:R849L;ENSP00000417899:R1027L;ENSP00000419995:R848L;ENSP00000420466:R839L;ENSP00000394302:R849L	ENSP00000264674:R913L	R	-	2	0	MECOM	170293497	0.998000	0.40836	0.975000	0.42487	0.334000	0.28698	5.632000	0.67819	2.527000	0.85204	0.460000	0.39030	CGA		PASS	0.443	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		12	202	12	202	---	---	---	---
ZNF718	255403	broad.mit.edu	37	4	155336	155336	+	lincRNA	SNP	A	A	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr4:155336A>T	ENST00000510175.1	+	0	771							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		AATGTGAAGAATGTGGTAAAG	0.358																																						uc003fzt.3																			0					0						c.(859-861)GAA>GAT		zinc finger protein 718							38.0	43.0	41.0					4																	155336		2086	4252	6338			255403				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:155336A>T	AK096662	CCDS75078.1, CCDS75079.1	4p16.3	2011-05-24			ENSG00000250312	ENSG00000250312		"""Zinc fingers, C2H2-type"""	26889	protein-coding gene	gene with protein product							Standard	XM_005278364		Approved	FLJ90036	uc003fzt.4	Q3SXZ3	OTTHUMG00000159873		4.37:g.155336A>T						ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_Missense_Mutation_p.N67I	p.E287D	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	8	994	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	287			C2H2-type 5.		Q3SXZ4|Q3SXZ5	Missense_Mutation	SNP	ENST00000510175.1	37	c.861A>T																																																																																					PASS	0.358	ZNF718-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000357865.3	NM_001039127		13	6	13	6	---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20598038	20598038	+	Splice_Site	SNP	T	T	C			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr4:20598038T>C	ENST00000504154.1	+	32	3573	c.3321T>C	c.(3319-3321)agT>agC	p.S1107S	SLIT2_ENST00000273739.5_Splice_Site_p.S1120S|SLIT2_ENST00000503837.1_Splice_Site_p.S1103S|SLIT2_ENST00000503823.1_Splice_Site_p.S1099S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1107	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.S1107S(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TATTCTTCAGTGGCTTGTTCT	0.363																																						uc003gpr.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(3319-3321)AGT>AGC		slit homolog 2 precursor							68.0	73.0	71.0					4																	20598038		2203	4300	6503	SO:0001630	splice_region_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20598038T>C	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3321-1T>C	4.37:g.20598038T>C						SLIT2_uc003gps.1_Silent_p.S1099S	p.S1107S	NM_004787	NP_004778	O94813	SLIT2_HUMAN			32	3525	+			1107			EGF-like 5; calcium-binding (Potential).		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.3321T>C	CCDS3426.1																																																																																				PASS	0.363	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		Silent	11	4	11	4	---	---	---	---
PPARGC1A	10891	broad.mit.edu	37	4	23803870	23803870	+	Silent	SNP	G	G	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr4:23803870G>A	ENST00000264867.2	-	11	2237	c.2118C>T	c.(2116-2118)tgC>tgT	p.C706C	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	706	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.C706C(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GATTTACTGTGCACTCCTCAA	0.418																																					Esophageal Squamous(29;694 744 13796 34866 44181)	uc003gqs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|kidney(2)|skin(2)	8						c.(2116-2118)TGC>TGT		peroxisome proliferator-activated receptor							143.0	132.0	136.0					4																	23803870		2203	4300	6503	SO:0001819	synonymous_variant	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23803870G>A	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.2118C>T	4.37:g.23803870G>A						PPARGC1A_uc003gqt.2_RNA	p.C706C	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN			11	2238	-		Breast(46;0.0503)	706			RRM.		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	c.2118C>T	CCDS3429.1																																																																																				PASS	0.418	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		33	22	33	22	---	---	---	---
ATP8A1	10396	broad.mit.edu	37	4	42445668	42445668	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr4:42445668C>A	ENST00000381668.5	-	33	3268	c.3037G>T	c.(3037-3039)Ggg>Tgg	p.G1013W	ATP8A1_ENST00000264449.10_Missense_Mutation_p.G998W|AC084010.1_ENST00000582816.1_RNA	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1013					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.G998W(1)|p.G1013W(1)		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)	GCGATGCTCCCCCATATCGCT	0.448																																						uc003gwr.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.(3037-3039)GGG>TGG		ATPase, aminophospholipid transporter (APLT),	Phosphatidylserine(DB00144)						112.0	99.0	103.0					4																	42445668		2203	4300	6503	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.chr4:42445668C>A	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.3037G>T	4.37:g.42445668C>A	ENSP00000371084:p.Gly1013Trp					ATP8A1_uc003gwq.2_Missense_Mutation_p.G239W|ATP8A1_uc003gws.2_Missense_Mutation_p.G998W	p.G1013W	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			33	3269	-			1013			Helical; (Potential).		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.3037G>T	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794832	0.90453	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.75477	-0.94;-0.94	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.88923	0.6569	M	0.88570	2.965	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.81914	0.993;0.995;0.995	D	0.90562	0.4516	10	0.87932	D	0	.	19.4234	0.94730	0.0:1.0:0.0:0.0	.	998;1013;1005	Q32M35;Q9Y2Q0;E7EUK4	.;AT8A1_HUMAN;.	W	1013;998	ENSP00000371084:G1013W;ENSP00000264449:G998W	ENSP00000264449:G998W	G	-	1	0	ATP8A1	42140425	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.396000	0.79891	2.602000	0.87976	0.655000	0.94253	GGG		PASS	0.448	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		12	15	12	15	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46043218	46043218	+	Silent	SNP	A	A	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr4:46043218A>T	ENST00000295452.4	-	9	1352	c.1185T>A	c.(1183-1185)tcT>tcA	p.S395S		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	395					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.S395S(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTTGCGGCACAGAAATATTAT	0.408																																						uc003gxb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1183-1185)TCT>TCA		gamma-aminobutyric acid A receptor, gamma 1							75.0	78.0	77.0					4																	46043218		2203	4300	6503	SO:0001819	synonymous_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46043218A>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1185T>A	4.37:g.46043218A>T							p.S395S	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	9	1337	-			395			Cytoplasmic (Probable).		Q5H9T8	Silent	SNP	ENST00000295452.4	37	c.1185T>A	CCDS3470.1																																																																																				PASS	0.408	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		11	22	11	22	---	---	---	---
NPY1R	4886	broad.mit.edu	37	4	164247222	164247222	+	Missense_Mutation	SNP	A	A	C			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr4:164247222A>C	ENST00000296533.2	-	2	1016	c.485T>G	c.(484-486)aTt>aGt	p.I162S	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	162					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.I162S(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAGGACCCAAATCACAGCAAT	0.433																																						uc003iqm.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(484-486)ATT>AGT		neuropeptide Y receptor Y1							138.0	126.0	130.0					4																	164247222		2203	4300	6503	SO:0001583	missense	4886				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164247222A>C		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.485T>G	4.37:g.164247222A>C	ENSP00000354652:p.Ile162Ser					NPY1R_uc011cjj.1_Intron	p.I162S	NM_000909	NP_000900	P25929	NPY1R_HUMAN			2	751	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	162			Helical; Name=4; (Potential).		B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.485T>G	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	A	18.53	3.644576	0.67358	.	.	ENSG00000164128	ENST00000296533	T	0.73789	-0.78	5.84	5.84	0.93424	GPCR, rhodopsin-like superfamily (1);	0.058527	0.64402	D	0.000004	D	0.85583	0.5730	M	0.86740	2.835	0.80722	D	1	D	0.56746	0.977	P	0.56088	0.791	D	0.88326	0.2965	10	0.87932	D	0	.	16.2262	0.82293	1.0:0.0:0.0:0.0	.	162	P25929	NPY1R_HUMAN	S	162	ENSP00000354652:I162S	ENSP00000354652:I162S	I	-	2	0	NPY1R	164466672	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	4.088000	0.57678	2.237000	0.73441	0.533000	0.62120	ATT		PASS	0.433	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			27	14	27	14	---	---	---	---
CLCN3	1182	broad.mit.edu	37	4	170610338	170610338	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr4:170610338C>A	ENST00000513761.1	+	5	1122	c.563C>A	c.(562-564)cCa>cAa	p.P188Q	CLCN3_ENST00000347613.4_Missense_Mutation_p.P188Q|CLCN3_ENST00000504131.2_Missense_Mutation_p.P171Q|CLCN3_ENST00000360642.3_Missense_Mutation_p.P188Q	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	188					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)	p.P188Q(1)		breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GATAAATGTCCACAGTGGAAA	0.398																																						uc003isi.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(562-564)CCA>CAA		chloride channel 3 isoform b							136.0	131.0	133.0					4																	170610338		2203	4300	6503	SO:0001583	missense	1182				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170610338C>A	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.563C>A	4.37:g.170610338C>A	ENSP00000424603:p.Pro188Gln					CLCN3_uc003ish.2_Missense_Mutation_p.P188Q|CLCN3_uc011cjz.1_Missense_Mutation_p.P171Q|CLCN3_uc011cka.1_Missense_Mutation_p.P188Q|CLCN3_uc003isj.1_Missense_Mutation_p.P161Q	p.P188Q	NM_001829	NP_001820	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	5	1072	+		Prostate(90;0.00601)|Renal(120;0.0183)	188					B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	c.563C>A	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287445	0.80803	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	D;D;D;D;D	0.89196	-2.47;-2.48;-2.46;-2.46;-2.31	5.27	4.43	0.53597	Chloride channel, core (1);	0.000000	0.85682	D	0.000000	D	0.82522	0.5055	L	0.33093	0.98	0.80722	D	1	B;B;B;B;B	0.21309	0.024;0.024;0.054;0.024;0.024	B;B;B;B;B	0.18561	0.017;0.017;0.017;0.017;0.022	T	0.76389	-0.2977	9	.	.	.	-5.2416	13.9165	0.63902	0.0:0.926:0.0:0.074	.	188;171;161;188;188	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	Q	188;188;188;171;161	ENSP00000424603:P188Q;ENSP00000261514:P188Q;ENSP00000353857:P188Q;ENSP00000424540:P171Q;ENSP00000425323:P161Q	.	P	+	2	0	CLCN3	170846913	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.818000	0.86416	1.226000	0.43582	0.585000	0.79938	CCA		PASS	0.398	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			4	45	4	45	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183664445	183664445	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr4:183664445G>C	ENST00000511685.1	+	19	3625	c.3502G>C	c.(3502-3504)Gat>Cat	p.D1168H	TENM3_ENST00000406950.2_Missense_Mutation_p.D1168H|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1168					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.D1168H(1)									TGGTCAAGCTGATGGTAACAA	0.547																																						uc003ivd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(3502-3504)GAT>CAT		odz, odd Oz/ten-m homolog 3							87.0	91.0	90.0					4																	183664445		2047	4203	6250	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183664445G>C	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3502G>C	4.37:g.183664445G>C	ENSP00000424226:p.Asp1168His					ODZ3_uc003ive.1_Missense_Mutation_p.D574H	p.D1168H	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	18	3539	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	1168			Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.3502G>C	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954283	0.34471	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86432	-2.12;-2.12	5.49	5.49	0.81192	.	.	.	.	.	D	0.87597	0.6217	L	0.59436	1.845	0.58432	D	0.999992	P	0.44578	0.838	B	0.44278	0.445	D	0.85951	0.1464	9	0.33940	T	0.23	.	19.5617	0.95375	0.0:0.0:1.0:0.0	.	1168	Q9P273	TEN3_HUMAN	H	1168	ENSP00000424226:D1168H;ENSP00000385276:D1168H	ENSP00000385276:D1168H	D	+	1	0	ODZ3	183901439	1.000000	0.71417	0.676000	0.29932	0.028000	0.11728	7.410000	0.80065	2.859000	0.98148	0.591000	0.81541	GAT		PASS	0.547	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			24	17	24	17	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187541799	187541799	+	Nonsense_Mutation	SNP	G	G	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr4:187541799G>A	ENST00000441802.2	-	10	6150	c.5941C>T	c.(5941-5943)Cag>Tag	p.Q1981*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1981	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q1981*(1)|p.Q1984*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TAGACATCCTGGGTAAACTTT	0.433										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(5941-5943)CAG>TAG		FAT tumor suppressor 1 precursor							204.0	204.0	204.0					4																	187541799		1854	4091	5945	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187541799G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.5941C>T	4.37:g.187541799G>A	ENSP00000406229:p.Gln1981*	HNSCC(5;0.00058)					p.Q1981*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	6129	-			1981			Extracellular (Potential).|Cadherin 18.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.5941C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	44	11.067323	0.99511	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.26	5.26	0.73747	.	0.114147	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	19.0552	0.93062	0.0:0.0:1.0:0.0	.	.	.	.	X	1981;1983	.	ENSP00000260147:Q1983X	Q	-	1	0	FAT1	187778793	1.000000	0.71417	0.984000	0.44739	0.233000	0.25261	5.283000	0.65621	2.740000	0.93945	0.561000	0.74099	CAG		PASS	0.433	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		77	60	77	60	---	---	---	---
C5orf38	153571	broad.mit.edu	37	5	2752747	2752747	+	Nonsense_Mutation	SNP	C	C	G			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr5:2752747C>G	ENST00000334000.3	+	2	329	c.212C>G	c.(211-213)tCa>tGa	p.S71*	C5orf38_ENST00000457752.2_Intron|C5orf38_ENST00000397835.4_Nonsense_Mutation_p.S71*|IRX2_ENST00000502957.1_Intron|C5orf38_ENST00000515640.1_Nonsense_Mutation_p.S71*|C5orf38_ENST00000505778.1_Nonsense_Mutation_p.S71*|IRX2_ENST00000302057.5_5'Flank|IRX2_ENST00000382611.6_5'Flank	NM_178569.2	NP_848664.1	Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	71						extracellular region (GO:0005576)		p.S71*(1)		endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		TTTGTGTTGTCAAAACACTGG	0.507																																						uc003jdc.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(211-213)TCA>TGA		hypothetical protein LOC153571 precursor							65.0	77.0	73.0					5																	2752747		2203	4300	6503	SO:0001587	stop_gained	153571					extracellular region		g.chr5:2752747C>G	AY249324	CCDS34131.1	5p15.33	2014-06-02			ENSG00000186493	ENSG00000186493			24226	protein-coding gene	gene with protein product	"""coordinated expression to IRX2"", ""IRX2 neighbor"""	610522				16515847, 16750006	Standard	XM_005248256		Approved	CEI, IRX2NB	uc003jdc.3	Q86SI9	OTTHUMG00000161741	ENST00000334000.3:c.212C>G	5.37:g.2752747C>G	ENSP00000334267:p.Ser71*					C5orf38_uc011cmg.1_Nonsense_Mutation_p.S71*|C5orf38_uc011cmh.1_Intron|C5orf38_uc011cmi.1_Intron|C5orf38_uc011cmj.1_Intron	p.S71*	NM_178569	NP_848664	Q86SI9	CEI_HUMAN		GBM - Glioblastoma multiforme(108;0.205)	2	329	+			71						Nonsense_Mutation	SNP	ENST00000334000.3	37	c.212C>G	CCDS34131.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007805	0.54361	.	.	ENSG00000186493	ENST00000397835;ENST00000334000;ENST00000505778;ENST00000515640	.	.	.	1.8	-0.473	0.12112	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999994	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.254	0.06824	0.3473:0.4126:0.2401:0.0	.	.	.	.	X	71	.	ENSP00000334267:S71X	S	+	2	0	C5orf38	2805747	0.004000	0.15560	0.000000	0.03702	0.036000	0.12997	0.403000	0.20982	-0.132000	0.11557	0.462000	0.41574	TCA		PASS	0.507	C5orf38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365956.2	NM_178569		60	74	60	74	---	---	---	---
C1QTNF3	114899	broad.mit.edu	37	5	34024067	34024067	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr5:34024067C>A	ENST00000231338.7	-	5	615	c.528G>T	c.(526-528)gaG>gaT	p.E176D	C1QTNF3_ENST00000513065.1_5'UTR|C1QTNF3_ENST00000382065.3_Missense_Mutation_p.E249D|RP11-1084J3.4_ENST00000382079.3_Missense_Mutation_p.E160D	NM_030945.3	NP_112207.1	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	176	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cellular triglyceride homeostasis (GO:0035356)|fat cell differentiation (GO:0045444)|negative regulation of gene expression (GO:0010629)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of cytokine secretion (GO:0050715)|protein trimerization (GO:0070206)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.E249D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CATACACTTCCTCAACATCCT	0.408																																						uc003jin.2																			1	Substitution - Missense(1)		lung(1)		0						c.(526-528)GAG>GAT		C1q and tumor necrosis factor related protein 3							300.0	208.0	239.0					5																	34024067		2203	4300	6503	SO:0001583	missense	114899					collagen		g.chr5:34024067C>A	AF329837	CCDS3904.1, CCDS34141.1	5p13	2009-05-20			ENSG00000082196	ENSG00000082196			14326	protein-coding gene	gene with protein product	"""cartonectin"""	612045				18421280	Standard	NM_030945		Approved	CTRP3, Cors, Corcs, 2310005P21Rik, Cors-26	uc003jio.3	Q9BXJ4	OTTHUMG00000090735	ENST00000231338.7:c.528G>T	5.37:g.34024067C>A	ENSP00000231338:p.Glu176Asp					C1QTNF3_uc003jim.2_Missense_Mutation_p.E56D|C1QTNF3_uc003jio.2_Missense_Mutation_p.E249D	p.E176D	NM_030945	NP_112207	Q9BXJ4	C1QT3_HUMAN			5	615	-	all_lung(31;0.0207)		176			C1q.		Q0VAN4|Q542Y2|Q6MZN1|Q96KY1	Missense_Mutation	SNP	ENST00000231338.7	37	c.528G>T	CCDS3904.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157950	0.57368	.	.	ENSG00000082196	ENST00000382056;ENST00000382065;ENST00000231338	T;T	0.79352	-1.26;-1.26	5.21	-2.48	0.06423	Tumour necrosis factor-like (2);Complement C1q protein (3);	.	.	.	.	T	0.72495	0.3467	L	0.35288	1.05	0.41165	D	0.986122	P;P	0.49307	0.922;0.919	P;P	0.58577	0.841;0.801	T	0.67452	-0.5667	9	0.22706	T	0.39	.	6.2918	0.21065	0.1115:0.4837:0.0:0.4049	.	249;176	Q0VAN4;Q9BXJ4	.;C1QT3_HUMAN	D	129;249;176	ENSP00000371497:E249D;ENSP00000231338:E176D	ENSP00000231338:E176D	E	-	3	2	C1QTNF3	34059824	0.914000	0.31030	0.978000	0.43139	0.994000	0.84299	-0.210000	0.09345	-0.324000	0.08589	0.563000	0.77884	GAG		PASS	0.408	C1QTNF3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207469.1	NM_030945		5	81	5	81	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	40998213	40998213	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr5:40998213C>A	ENST00000399564.4	-	42	5149	c.4699G>T	c.(4699-4701)Gct>Tct	p.A1567S	MROH2B_ENST00000506092.2_Missense_Mutation_p.A1122S	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1567								p.A1567S(1)									GCAGCCTCAGCTGCTCTCTGG	0.463																																						uc003jmj.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(4699-4701)GCT>TCT		HEAT repeat family member 7B2							190.0	179.0	183.0					5																	40998213		1919	4141	6060	SO:0001583	missense	133558						binding	g.chr5:40998213C>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4699G>T	5.37:g.40998213C>A	ENSP00000382476:p.Ala1567Ser					HEATR7B2_uc003jmi.3_Missense_Mutation_p.A1122S	p.A1567S	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			42	5189	-			1567					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.4699G>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288565	0.80914	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.73469	-0.75;-0.75	4.66	4.66	0.58398	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.47852	D	0.000215	T	0.82157	0.4976	M	0.72118	2.19	0.42745	D	0.993755	P	0.43633	0.813	P	0.56343	0.796	T	0.82671	-0.0342	10	0.49607	T	0.09	.	13.2229	0.59899	0.0:1.0:0.0:0.0	.	1567	Q7Z745	HTRB2_HUMAN	S	1122;1272;1567	ENSP00000441504:A1122S;ENSP00000382476:A1567S	ENSP00000296803:A1272S	A	-	1	0	HEATR7B2	41033970	0.993000	0.37304	0.992000	0.48379	0.833000	0.47200	1.944000	0.40263	2.587000	0.87381	0.655000	0.94253	GCT		PASS	0.463	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		83	257	83	257	---	---	---	---
DIMT1	27292	broad.mit.edu	37	5	61688006	61688006	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr5:61688006G>T	ENST00000199320.4	-	10	944	c.784C>A	c.(784-786)Cat>Aat	p.H262N	DIMT1_ENST00000506390.1_Missense_Mutation_p.H262N|KIF2A_ENST00000509663.2_Intron	NM_014473.2	NP_055288.1	Q9UNQ2	DIM1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	262						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)	p.H262N(1)									ACAATATTATGGACTGAACAG	0.313																																						uc003jta.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(784-786)CAT>AAT		dimethyladenosine transferase							112.0	112.0	112.0					5																	61688006		2203	4297	6500	SO:0001583	missense	27292					nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr5:61688006G>T	AF102147	CCDS3981.1	5q12.1	2011-08-11	2011-08-11	2011-08-11	ENSG00000086189	ENSG00000086189			30217	protein-coding gene	gene with protein product		612499	"""DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)"""	DIMT1L		11124703	Standard	NM_014473		Approved	HSA9761	uc003jta.3	Q9UNQ2	OTTHUMG00000131223	ENST00000199320.4:c.784C>A	5.37:g.61688006G>T	ENSP00000199320:p.His262Asn						p.H262N	NM_014473	NP_055288	Q9UNQ2	DIMT1_HUMAN		Lung(70;0.122)	10	913	-		Lung NSC(810;8.94e-06)|Prostate(74;0.0235)|Ovarian(174;0.051)|Breast(144;0.077)	262					O76025|Q9BU77|Q9UES1	Missense_Mutation	SNP	ENST00000199320.4	37	c.784C>A	CCDS3981.1	.	.	.	.	.	.	.	.	.	.	G	5.652	0.304897	0.10678	.	.	ENSG00000086189	ENST00000199320;ENST00000506390	T;T	0.26373	1.74;1.74	6.08	5.16	0.70880	.	0.131222	0.64402	D	0.000001	T	0.10294	0.0252	N	0.02721	-0.515	0.53688	D	0.999973	B	0.02656	0.0	B	0.11329	0.006	T	0.12268	-1.0554	10	0.02654	T	1	-31.7785	14.8334	0.70164	0.0:0.0:0.7561:0.2439	.	262	Q9UNQ2	DIM1_HUMAN	N	262	ENSP00000199320:H262N;ENSP00000421754:H262N	ENSP00000199320:H262N	H	-	1	0	DIMT1L	61723763	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	4.290000	0.59019	2.894000	0.99253	0.591000	0.81541	CAT		PASS	0.313	DIMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253967.1	NM_014473		4	37	4	37	---	---	---	---
UTP15	84135	broad.mit.edu	37	5	72864310	72864310	+	Silent	SNP	A	A	G	rs374072213		TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr5:72864310A>G	ENST00000296792.4	+	4	504	c.249A>G	c.(247-249)gcA>gcG	p.A83A	UTP15_ENST00000508491.1_Silent_p.A64A|UTP15_ENST00000543251.1_5'UTR|ANKRA2_ENST00000296785.3_5'Flank	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	83					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.A83A(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		AAGACACAGCATACTGTGCTA	0.423																																						uc003kcw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(247-249)GCA>GCG		UTP15, U3 small nucleolar ribonucleoprotein,		A		0,4406		0,0,2203	127.0	128.0	128.0		249	-9.1	0.5	5		128	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	UTP15	NM_032175.2		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		83/519	72864310	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84135				rRNA processing	cytoplasm|nucleolus		g.chr5:72864310A>G	AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"""WD repeat domain containing"""	25758	protein-coding gene	gene with protein product			"""UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.249A>G	5.37:g.72864310A>G						UTP15_uc011cso.1_Silent_p.A64A|UTP15_uc011csp.1_5'UTR|UTP15_uc010ize.1_Silent_p.A83A|ANKRA2_uc003kcu.1_5'Flank|ANKRA2_uc003kcv.2_5'Flank	p.A83A	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)	4	472	+		Lung NSC(167;0.00405)|Ovarian(174;0.0129)	83			WD 2.		B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Silent	SNP	ENST00000296792.4	37	c.249A>G	CCDS34186.1	.	.	.	.	.	.	.	.	.	.	A	9.675	1.147711	0.21288	0.0	1.16E-4	ENSG00000164338	ENST00000509005	.	.	.	5.55	-9.13	0.00704	.	.	.	.	.	T	0.58652	0.2137	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67624	-0.5623	4	.	.	.	.	14.0085	0.64481	0.2227:0.311:0.4663:0.0	.	.	.	.	R	110	.	.	H	+	2	0	UTP15	72900066	0.000000	0.05858	0.456000	0.27044	0.975000	0.68041	-4.872000	0.00175	-2.240000	0.00710	-1.256000	0.01477	CAT		PASS	0.423	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175		36	16	36	16	---	---	---	---
ANKRD34B	340120	broad.mit.edu	37	5	79854626	79854626	+	Missense_Mutation	SNP	A	A	G			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr5:79854626A>G	ENST00000338682.3	-	5	1885	c.1213T>C	c.(1213-1215)Tca>Cca	p.S405P		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	405						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S405P(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TTGGACTCTGACAATTGGGAA	0.478																																						uc010jam.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1213-1215)TCA>CCA		ankyrin repeat domain 34B							75.0	80.0	79.0					5																	79854626		2203	4300	6503	SO:0001583	missense	340120					cytoplasm|nucleus		g.chr5:79854626A>G		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.1213T>C	5.37:g.79854626A>G	ENSP00000339802:p.Ser405Pro					ANKRD34B_uc003kgw.2_Missense_Mutation_p.S405P|ANKRD34B_uc010jan.2_Missense_Mutation_p.S405P	p.S405P	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	4	1563	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	405					B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	37	c.1213T>C	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	A	2.891	-0.229667	0.06022	.	.	ENSG00000189127	ENST00000338682	T	0.19532	2.14	5.76	3.16	0.36331	.	0.107611	0.38492	U	0.001668	T	0.14657	0.0354	L	0.49350	1.555	0.40011	D	0.975282	B	0.12630	0.006	B	0.08055	0.003	T	0.13282	-1.0515	10	0.24483	T	0.36	-12.629	2.1725	0.03853	0.5345:0.1412:0.0793:0.245	.	405	A5PLL1	AN34B_HUMAN	P	405	ENSP00000339802:S405P	ENSP00000339802:S405P	S	-	1	0	ANKRD34B	79890382	0.533000	0.26354	0.852000	0.33557	0.015000	0.08874	1.076000	0.30729	0.966000	0.38159	0.533000	0.62120	TCA		PASS	0.478	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		25	14	25	14	---	---	---	---
MSH3	4437	broad.mit.edu	37	5	79968171	79968171	+	Nonsense_Mutation	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr5:79968171G>T	ENST00000265081.6	+	5	981	c.901G>T	c.(901-903)Gga>Tga	p.G301*		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	301					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)	p.G292*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GGTGGCAAAAGGATATAAGGT	0.433								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	uc003kgz.2																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|ovary(1)|breast(1)	4						c.(901-903)GGA>TGA	MMR	mutS homolog 3							93.0	89.0	90.0					5																	79968171		2203	4300	6503	SO:0001587	stop_gained	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79968171G>T	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.901G>T	5.37:g.79968171G>T	ENSP00000265081:p.Gly301*						p.G301*	NM_002439	NP_002430	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	5	1154	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	301					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Nonsense_Mutation	SNP	ENST00000265081.6	37	c.901G>T	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	G	39	7.851495	0.98525	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.8723	19.4293	0.94758	0.0:0.0:1.0:0.0	.	.	.	.	X	301;292	.	.	G	+	1	0	MSH3	80003927	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.310000	0.96267	2.697000	0.92050	0.650000	0.86243	GGA		PASS	0.433	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		7	30	7	30	---	---	---	---
APC	324	broad.mit.edu	37	5	112174187	112174187	+	Missense_Mutation	SNP	A	A	G			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr5:112174187A>G	ENST00000457016.1	+	16	3276	c.2896A>G	c.(2896-2898)Agt>Ggt	p.S966G	APC_ENST00000508376.2_Missense_Mutation_p.S966G|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.S966G			P25054	APC_HUMAN	adenomatous polyposis coli	966	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.S966G(1)|p.?(1)|p.S966R(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TAGTTTAAATAGTGTCAGTAG	0.328		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		3	Substitution - Missense(2)|Unknown(1)	p.?(1)|p.S966R(1)	large_intestine(1)|lung(1)|skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515	GRCh37	CI994569	APC	I		c.(2896-2898)AGT>GGT		adenomatous polyposis coli							72.0	70.0	70.0					5																	112174187		2202	4300	6502	SO:0001583	missense	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112174187A>G	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2896A>G	5.37:g.112174187A>G	ENSP00000413133:p.Ser966Gly	TSP Lung(16;0.13)				APC_uc011cvt.1_Missense_Mutation_p.S948G|APC_uc003kpz.3_Missense_Mutation_p.S966G|APC_uc003kpy.3_Missense_Mutation_p.S966G|APC_uc010jbz.2_Missense_Mutation_p.S683G|APC_uc010jca.2_Missense_Mutation_p.S266G	p.S966G	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	3276	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	966			Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.2896A>G	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.319574	0.60524	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.98060	-3.83;-4.69;-3.83;-3.83;-4.03	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.98273	0.9428	L	0.61218	1.895	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.70716	0.97;0.97	D	0.99517	1.0957	10	0.72032	D	0.01	-18.9916	16.0515	0.80765	1.0:0.0:0.0:0.0	.	968;966	Q4LE70;P25054	.;APC_HUMAN	G	966;948;966;966;966	ENSP00000413133:S966G;ENSP00000423224:S948G;ENSP00000257430:S966G;ENSP00000427089:S966G;ENSP00000423828:S966G	ENSP00000257430:S966G	S	+	1	0	APC	112202086	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.962000	0.93254	2.197000	0.70478	0.528000	0.53228	AGT		PASS	0.328	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		16	11	16	11	---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113831666	113831666	+	Silent	SNP	C	C	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr5:113831666C>A	ENST00000512097.3	+	9	2545	c.1527C>A	c.(1525-1527)acC>acA	p.T509T	KCNN2_ENST00000503706.1_Silent_p.T161T|RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000264773.3_Silent_p.T509T			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	509					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.T509T(1)|p.T161T(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	GGATTGTTACCCTGGAAACAA	0.448																																						uc003kqo.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1525-1527)ACC>ACA		small conductance calcium-activated potassium							125.0	129.0	128.0					5																	113831666		2202	4300	6502	SO:0001819	synonymous_variant	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113831666C>A	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1527C>A	5.37:g.113831666C>A						KCNN2_uc003kqp.2_Silent_p.T161T|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron	p.T509T	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	8	1984	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	509					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Silent	SNP	ENST00000512097.3	37	c.1527C>A	CCDS4114.1																																																																																				PASS	0.448	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		36	35	36	35	---	---	---	---
SLC27A6	28965	broad.mit.edu	37	5	128320972	128320972	+	Missense_Mutation	SNP	C	C	G	rs142869983	byFrequency	TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr5:128320972C>G	ENST00000262462.4	+	2	1638	c.628C>G	c.(628-630)Cat>Gat	p.H210D	SLC27A6_ENST00000395266.1_Missense_Mutation_p.H210D|SLC27A6_ENST00000506176.1_Missense_Mutation_p.H210D			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	210					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.H210D(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		ACGCAGCCACCATGTTGTCTC	0.423																																						uc003kuy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(628-630)CAT>GAT		solute carrier family 27 (fatty acid							118.0	99.0	105.0					5																	128320972		2203	4300	6503	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128320972C>G	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.628C>G	5.37:g.128320972C>G	ENSP00000262462:p.His210Asp					SLC27A6_uc003kuz.2_Missense_Mutation_p.H210D	p.H210D	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	3	1024	+		all_cancers(142;0.0483)|Prostate(80;0.055)	210					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.628C>G	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	C	7.651	0.682996	0.14907	.	.	ENSG00000113396	ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176	D;T;T;T	0.82255	-1.59;0.84;0.84;0.84	4.47	1.69	0.24217	AMP-dependent synthetase/ligase (1);	0.098791	0.64402	D	0.000002	T	0.77844	0.4191	L	0.42245	1.32	0.09310	N	1	B	0.29253	0.239	B	0.41135	0.348	T	0.65026	-0.6268	9	.	.	.	-15.2273	6.6291	0.22847	0.1274:0.656:0.0:0.2166	.	210	Q9Y2P4	S27A6_HUMAN	D	29;210;210;210	ENSP00000421759:H29D;ENSP00000262462:H210D;ENSP00000378684:H210D;ENSP00000421024:H210D	.	H	+	1	0	SLC27A6	128348871	0.010000	0.17322	0.026000	0.17262	0.097000	0.18754	1.500000	0.35682	0.369000	0.24510	0.655000	0.94253	CAT		PASS	0.423	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		17	17	17	17	---	---	---	---
ACSL6	23305	broad.mit.edu	37	5	131296315	131296315	+	Splice_Site	SNP	C	C	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr5:131296315C>T	ENST00000379240.1	-	19	1936		c.e19-1		ACSL6_ENST00000379249.3_Splice_Site|ACSL6_ENST00000296869.4_Splice_Site|ACSL6_ENST00000379246.1_Splice_Site|ACSL6_ENST00000379272.2_Splice_Site|ACSL6_ENST00000379264.2_Splice_Site|ACSL6_ENST00000431707.1_Splice_Site|ACSL6_ENST00000543479.1_Splice_Site|ACSL6_ENST00000379255.1_Splice_Site|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000544770.1_Splice_Site|ACSL6_ENST00000379244.1_Splice_Site|ACSL6_ENST00000357096.1_Splice_Site			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6						acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)	p.?(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAAAAAGGCCTGCAGTGCTC	0.433																																						uc010jdo.1																			2	Unknown(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.e19-1		acyl-CoA synthetase long-chain family member 6							98.0	88.0	91.0					5																	131296315		2203	4300	6503	SO:0001630	splice_region_variant	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131296315C>T	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1783-1G>A	5.37:g.131296315C>T						ACSL6_uc003kvv.1_Splice_Site|ACSL6_uc003kvx.1_Splice_Site_p.A620_splice|ACSL6_uc003kvy.1_Splice_Site_p.A620_splice|ACSL6_uc003kwb.2_Splice_Site_p.A585_splice|ACSL6_uc003kvz.1_Splice_Site_p.A520_splice|ACSL6_uc003kwa.1_Splice_Site_p.A606_splice|ACSL6_uc003kvw.1_Splice_Site_p.A241_splice|ACSL6_uc010jdn.1_Splice_Site_p.A610_splice	p.A595_splice	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		19	1866	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)						J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Splice_Site	SNP	ENST00000379240.1	37	c.1783_splice		.	.	.	.	.	.	.	.	.	.	C	17.19	3.326862	0.60743	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0839	0.97794	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACSL6	131324214	1.000000	0.71417	0.998000	0.56505	0.491000	0.33493	7.818000	0.86416	2.741000	0.93983	0.655000	0.94253	.		PASS	0.433	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256	Intron	13	13	13	13	---	---	---	---
PCDHB5	26167	broad.mit.edu	37	5	140517005	140517005	+	Silent	SNP	C	C	T	rs373394808		TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr5:140517005C>T	ENST00000231134.5	+	1	2206	c.1989C>T	c.(1987-1989)gaC>gaT	p.D663D		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	663	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D663D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGGTGGACGGCTTCTCCC	0.716																																						uc003liq.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)	5						c.(1987-1989)GAC>GAT		protocadherin beta 5 precursor							38.0	43.0	41.0					5																	140517005		2150	4229	6379	SO:0001819	synonymous_variant	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140517005C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1989C>T	5.37:g.140517005C>T							p.D663D	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2206	+			663			Cadherin 6.|Extracellular (Potential).		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1989C>T	CCDS4247.1																																																																																				PASS	0.716	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		16	9	16	9	---	---	---	---
THG1L	54974	broad.mit.edu	37	5	157159978	157159978	+	Silent	SNP	G	G	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr5:157159978G>A	ENST00000231198.7	+	2	538	c.294G>A	c.(292-294)gtG>gtA	p.V98V		NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	98					protein homotetramerization (GO:0051289)|tRNA modification (GO:0006400)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|tRNA binding (GO:0000049)|tRNA guanylyltransferase activity (GO:0008193)	p.V98V(1)		NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGATATTGTGATCGCGTATG	0.448																																						uc003lxd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(292-294)GTG>GTA		interphase cytoplasmic foci protein 45							189.0	166.0	174.0					5																	157159978		2203	4300	6503	SO:0001819	synonymous_variant	54974				protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity	g.chr5:157159978G>A	AK223119	CCDS4341.1	5q33.3	2008-02-05			ENSG00000113272	ENSG00000113272			26053	protein-coding gene	gene with protein product	"""interphase cytoplasmic foci protein 45"""					11230166	Standard	XM_005265939		Approved	ICF45, FLJ11601, FLJ20546	uc003lxd.3	Q9NWX6	OTTHUMG00000130254	ENST00000231198.7:c.294G>A	5.37:g.157159978G>A						THG1L_uc011ddu.1_5'UTR	p.V98V	NM_017872	NP_060342	Q9NWX6	THG1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	420	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	98					D3DQJ5|Q53G12|Q7L5R3|Q9H0S2	Silent	SNP	ENST00000231198.7	37	c.294G>A	CCDS4341.1																																																																																				PASS	0.448	THG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252579.2	NM_017872		41	23	41	23	---	---	---	---
EBF1	1879	broad.mit.edu	37	5	158522656	158522656	+	Missense_Mutation	SNP	A	A	G			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr5:158522656A>G	ENST00000313708.6	-	4	665	c.383T>C	c.(382-384)gTg>gCg	p.V128A	EBF1_ENST00000517373.1_Missense_Mutation_p.V128A|EBF1_ENST00000380654.4_Missense_Mutation_p.V128A|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	128					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V128A(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATGAGGCGCACGTAGAAATC	0.478			T	HMGA2	lipoma																																	uc010jip.2				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	1	Substitution - Missense(1)		lung(1)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(382-384)GTG>GCG		early B-cell factor							69.0	68.0	69.0					5																	158522656		2203	4300	6503	SO:0001583	missense	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158522656A>G	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.383T>C	5.37:g.158522656A>G	ENSP00000322898:p.Val128Ala					EBF1_uc011ddw.1_5'UTR|EBF1_uc011ddx.1_Missense_Mutation_p.V128A|EBF1_uc003lxl.3_Missense_Mutation_p.V128A	p.V128A	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	685	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	128					Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	c.383T>C	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.812743	0.90707	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.58940	0.35;0.3;0.38	5.48	5.48	0.80851	.	0.072321	0.56097	D	0.000038	T	0.73497	0.3594	M	0.68317	2.08	0.80722	D	1	D;P;P	0.65815	0.995;0.95;0.887	D;P;P	0.69142	0.962;0.907;0.831	T	0.75938	-0.3141	10	0.59425	D	0.04	-6.0784	15.5724	0.76349	1.0:0.0:0.0:0.0	.	128;128;128	A8K0Z7;Q9UH73;Q9UH73-2	.;COE1_HUMAN;.	A	128	ENSP00000322898:V128A;ENSP00000370029:V128A;ENSP00000428020:V128A	ENSP00000322898:V128A	V	-	2	0	EBF1	158455234	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.310000	0.96267	2.082000	0.62665	0.533000	0.62120	GTG		PASS	0.478	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		10	22	10	22	---	---	---	---
CDHR2	54825	broad.mit.edu	37	5	176011260	176011260	+	Splice_Site	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr5:176011260G>T	ENST00000510636.1	+	18	2402	c.2128G>T	c.(2128-2130)Gga>Tga	p.G710*	CDHR2_ENST00000506348.1_Splice_Site_p.G710*|CDHR2_ENST00000261944.5_Splice_Site_p.G710*	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	710	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G710*(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGAGGATCCAGGTATGTGCTC	0.577																																						uc003mem.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(2128-2130)GGA>TGA		protocadherin LKC precursor							101.0	83.0	89.0					5																	176011260		2203	4300	6503	SO:0001630	splice_region_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176011260G>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2128+1G>T	5.37:g.176011260G>T						CDHR2_uc003men.1_Nonsense_Mutation_p.G710*	p.G710*	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN			18	2194	+			710			Cadherin 7.|Extracellular (Potential).		A1L3U4|A6NC80|Q9NXP8	Nonsense_Mutation	SNP	ENST00000510636.1	37	c.2128G>T	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	G	36	5.918602	0.97105	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-5.5991	18.4237	0.90602	0.0:0.0:1.0:0.0	.	.	.	.	X	710	.	ENSP00000261944:G710X	G	+	1	0	CDHR2	175943866	1.000000	0.71417	0.733000	0.30861	0.021000	0.10359	6.960000	0.76036	2.697000	0.92050	0.549000	0.68633	GGA		PASS	0.577	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675	Nonsense_Mutation	4	32	4	32	---	---	---	---
CANX	821	broad.mit.edu	37	5	179155595	179155595	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr5:179155595G>T	ENST00000247461.4	+	15	1929	c.1729G>T	c.(1729-1731)Gat>Tat	p.D577Y	CANX_ENST00000415618.2_Missense_Mutation_p.D612Y|CANX_ENST00000452673.2_Missense_Mutation_p.D577Y|CANX_ENST00000512607.2_Missense_Mutation_p.D469Y|CANX_ENST00000504734.1_Missense_Mutation_p.D577Y	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	577	Sufficient to mediate interaction with SGIP1. {ECO:0000250}.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)	p.D577Y(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	TCAATAGGAGGATGAAATTTT	0.343																																						uc003mkk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1729-1731)GAT>TAT		calnexin precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						59.0	55.0	57.0					5																	179155595		2203	4300	6503	SO:0001583	missense	821				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding	g.chr5:179155595G>T	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.1729G>T	5.37:g.179155595G>T	ENSP00000247461:p.Asp577Tyr					CANX_uc011dgp.1_Missense_Mutation_p.D612Y|CANX_uc003mkl.2_Missense_Mutation_p.D577Y|CANX_uc011dgq.1_Missense_Mutation_p.D469Y	p.D577Y	NM_001746	NP_001737	P27824	CALX_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		15	1906	+	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	577			Cytoplasmic (Potential).		B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	ENST00000247461.4	37	c.1729G>T	CCDS4447.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898460	0.72639	.	.	ENSG00000127022	ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000512607	T;T;T;T;T	0.53423	0.64;0.62;0.64;0.64;0.66	5.64	5.64	0.86602	.	0.174748	0.50627	D	0.000107	T	0.65502	0.2697	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.63488	0.915;0.915	T	0.67503	-0.5654	10	0.87932	D	0	-27.0606	17.4962	0.87718	0.0:0.0:1.0:0.0	.	612;577	B4DGP8;P27824	.;CALX_HUMAN	Y	577;612;577;577;469	ENSP00000424063:D577Y;ENSP00000394817:D612Y;ENSP00000391646:D577Y;ENSP00000247461:D577Y;ENSP00000423588:D469Y	ENSP00000247461:D577Y	D	+	1	0	CANX	179088201	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.561000	0.73955	2.658000	0.90341	0.555000	0.69702	GAT		PASS	0.343	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649		13	6	13	6	---	---	---	---
TRIM15	89870	broad.mit.edu	37	6	30131465	30131465	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr6:30131465C>T	ENST00000376694.4	+	1	473	c.4C>T	c.(4-6)Ccc>Tcc	p.P2S	TRIM10_ENST00000376704.3_5'Flank|TRIM15_ENST00000376688.1_Missense_Mutation_p.P2S|TRIM10_ENST00000449742.2_5'Flank	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	2					innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.P2S(1)		large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CACCGTGATGCCCGCAACCCC	0.622																																						uc010jrx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(4-6)CCC>TCC		tripartite motif protein 15							45.0	39.0	41.0					6																	30131465		1509	2708	4217	SO:0001583	missense	89870				mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30131465C>T	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	protein-coding gene	gene with protein product			"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.4C>T	6.37:g.30131465C>T	ENSP00000365884:p.Pro2Ser					TRIM10_uc003npn.2_5'Flank|TRIM10_uc003npo.3_5'Flank	p.P2S	NM_033229	NP_150232	Q9C019	TRI15_HUMAN			1	483	+			2					A2BEC9|O95604|Q8IUX9|Q9C018	Missense_Mutation	SNP	ENST00000376694.4	37	c.4C>T	CCDS4677.1	.	.	.	.	.	.	.	.	.	.	C	7.404	0.633353	0.14322	.	.	ENSG00000204610	ENST00000376694;ENST00000376688	T;T	0.52526	0.66;4.04	5.13	1.7	0.24286	.	0.499926	0.16882	N	0.195663	T	0.06096	0.0158	N	0.02842	-0.48	0.24440	N	0.994531	B	0.18013	0.025	B	0.12837	0.008	T	0.38542	-0.9656	10	0.22706	T	0.39	.	4.2126	0.10519	0.0:0.4756:0.1658:0.3587	.	2	Q9C019	TRI15_HUMAN	S	2	ENSP00000365884:P2S;ENSP00000365878:P2S	ENSP00000365878:P2S	P	+	1	0	TRIM15	30239444	0.021000	0.18746	0.225000	0.23894	0.237000	0.25408	-0.410000	0.07151	0.116000	0.18110	0.448000	0.29417	CCC		PASS	0.622	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		5	11	5	11	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32046816	32046816	+	Missense_Mutation	SNP	C	C	T	rs201153451		TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr6:32046816C>T	ENST00000375244.3	-	11	4570	c.4369G>A	c.(4369-4371)Gtg>Atg	p.V1457M	TNXB_ENST00000375247.2_Missense_Mutation_p.V1457M|RNA5SP206_ENST00000516703.1_RNA			P22105	TENX_HUMAN	tenascin XB	1544					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.V1544M(1)|p.V1457M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCACCTGTCACGCCCACGGCG	0.657																																						uc003nzl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(4369-4371)GTG>ATG		tenascin XB isoform 1 precursor		C	MET/VAL	4,2616		0,4,1306	31.0	35.0	34.0		4369	-7.5	0.0	6		34	0,5154		0,0,2577	yes	missense	TNXB	NM_019105.6	21	0,4,3883	TT,TC,CC		0.0,0.1527,0.0515	benign	1457/4243	32046816	4,7770	1310	2577	3887	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32046816C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4369G>A	6.37:g.32046816C>T	ENSP00000364393:p.Val1457Met						p.V1457M	NM_019105	NP_061978	P22105	TENX_HUMAN			11	4571	-			1544					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.4369G>A		.	.	.	.	.	.	.	.	.	.	C	11.82	1.753001	0.31046	0.001527	0.0	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04758	3.56;3.56	5.52	-7.53	0.01336	.	1.550020	0.04592	N	0.396970	T	0.01124	0.0037	L	0.28694	0.88	0.09310	N	1	B	0.32653	0.379	B	0.32289	0.143	T	0.31308	-0.9948	10	0.51188	T	0.08	.	8.4601	0.32923	0.0:0.2186:0.2888:0.4926	.	1457	P22105-3	.	M	1457	ENSP00000364393:V1457M;ENSP00000364396:V1457M	ENSP00000364393:V1457M	V	-	1	0	TNXB	32154794	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-4.995000	0.00162	-2.062000	0.00891	-0.948000	0.02665	GTG		PASS	0.657	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		5	22	5	22	---	---	---	---
IMPG1	3617	broad.mit.edu	37	6	76744468	76744468	+	Missense_Mutation	SNP	A	A	G			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr6:76744468A>G	ENST00000369950.3	-	3	527	c.338T>C	c.(337-339)tTt>tCt	p.F113S	IMPG1_ENST00000369963.3_Missense_Mutation_p.F35S	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.F113S(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GCGATCCAGAAAGATCCGATA	0.493																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(337-339)TTT>TCT		interphotoreceptor matrix proteoglycan 1							93.0	84.0	87.0					6																	76744468		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76744468A>G	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.338T>C	6.37:g.76744468A>G	ENSP00000358966:p.Phe113Ser						p.F113S	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			3	468	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	113						Missense_Mutation	SNP	ENST00000369950.3	37	c.338T>C	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.862295	0.91511	.	.	ENSG00000112706	ENST00000369950;ENST00000369963	T;T	0.80824	-0.96;-1.42	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000002	D	0.88596	0.6479	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89493	0.3758	9	.	.	.	.	16.0985	0.81148	1.0:0.0:0.0:0.0	.	113	Q17R60	IMPG1_HUMAN	S	113;35	ENSP00000358966:F113S;ENSP00000358980:F35S	.	F	-	2	0	IMPG1	76801188	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.907000	0.92634	2.197000	0.70478	0.455000	0.32223	TTT		PASS	0.493	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		9	43	9	43	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90428865	90428865	+	Missense_Mutation	SNP	T	T	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr6:90428865T>A	ENST00000369393.3	-	41	6162	c.6047A>T	c.(6046-6048)tAt>tTt	p.Y2016F	MDN1_ENST00000428876.1_Missense_Mutation_p.Y2016F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2016					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.Y2016F(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTGAACATCATAGGGAGTGAT	0.403																																						uc003pnn.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(6046-6048)TAT>TTT		MDN1, midasin homolog							105.0	95.0	98.0					6																	90428865		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90428865T>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.6047A>T	6.37:g.90428865T>A	ENSP00000358400:p.Tyr2016Phe						p.Y2016F	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	41	6163	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2016					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.6047A>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.706676	0.30232	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03242	4.0;4.0	4.7	2.33	0.28932	.	0.150649	0.46442	D	0.000282	T	0.01835	0.0058	L	0.57536	1.79	0.30853	N	0.734407	B	0.18461	0.028	B	0.17098	0.017	T	0.35151	-0.9800	10	0.56958	D	0.05	.	10.6817	0.45819	0.0:0.091:0.0:0.909	.	2016	Q9NU22	MDN1_HUMAN	F	2016	ENSP00000358400:Y2016F;ENSP00000413970:Y2016F	ENSP00000358400:Y2016F	Y	-	2	0	MDN1	90485586	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.207000	0.42788	0.315000	0.23110	0.455000	0.32223	TAT		PASS	0.403	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			11	33	11	33	---	---	---	---
AIM1	202	broad.mit.edu	37	6	106967119	106967119	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr6:106967119C>A	ENST00000369066.3	+	2	1299	c.812C>A	c.(811-813)aCc>aAc	p.T271N		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					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.T271N(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AACACTGCCACCAAAATCTCC	0.413																																						uc003prh.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9						c.(811-813)ACC>AAC		absent in melanoma 1							55.0	54.0	55.0					6																	106967119		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106967119C>A	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.812C>A	6.37:g.106967119C>A	ENSP00000358062:p.Thr271Asn						p.T271N	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	1299	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	271					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.812C>A	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	2.757	-0.258819	0.05791	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.66638	-0.22	5.59	0.932	0.19466	.	0.326457	0.22279	N	0.062146	T	0.21674	0.0522	N	0.10916	0.065	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.36601	-0.9741	10	0.05959	T	0.93	.	14.9966	0.71436	0.6401:0.3598:0.0:0.0	.	271	Q9Y4K1	AIM1_HUMAN	N	679;271	ENSP00000358062:T271N	ENSP00000285105:T679N	T	+	2	0	AIM1	107073812	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	0.902000	0.28459	0.214000	0.20742	0.555000	0.69702	ACC		PASS	0.413	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			5	46	5	46	---	---	---	---
ICA1	3382	broad.mit.edu	37	7	8198264	8198264	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr7:8198264G>T	ENST00000402384.3	-	7	864	c.598C>A	c.(598-600)Ctt>Att	p.L200I	ICA1_ENST00000406470.2_Missense_Mutation_p.L200I|ICA1_ENST00000422063.2_Missense_Mutation_p.L200I|ICA1_ENST00000407906.1_Missense_Mutation_p.L200I|ICA1_ENST00000265577.7_Missense_Mutation_p.L199I|ICA1_ENST00000396675.3_Missense_Mutation_p.L200I|ICA1_ENST00000401396.1_Missense_Mutation_p.L188I			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	200	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)		p.L200I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TTTTTTGCAAGGCGCACTTGT	0.393																																						uc003srm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(598-600)CTT>ATT		islet cell autoantigen 1							134.0	117.0	123.0					7																	8198264		2203	4300	6503	SO:0001583	missense	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8198264G>T		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.598C>A	7.37:g.8198264G>T	ENSP00000385570:p.Leu200Ile					ICA1_uc010ktr.2_Missense_Mutation_p.L200I|ICA1_uc003srl.2_Missense_Mutation_p.L188I|ICA1_uc003srn.3_Missense_Mutation_p.L126I|ICA1_uc003srp.3_Missense_Mutation_p.L199I|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.L200I|ICA1_uc003srr.2_Missense_Mutation_p.L199I|ICA1_uc003sro.3_Missense_Mutation_p.L200I|ICA1_uc011jxg.1_Missense_Mutation_p.L200I|ICA1_uc003srs.1_Missense_Mutation_p.L200I	p.L200I	NM_022307	NP_071682	Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	7	665	-		Ovarian(82;0.0612)	200			AH.		A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	ENST00000402384.3	37	c.598C>A	CCDS34602.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057998	0.36277	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063;ENST00000407906;ENST00000317367	T;T;T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	5.09	5.09	0.68999	Arfaptin-like (3);	0.379433	0.29348	N	0.012407	T	0.73118	0.3546	L	0.29908	0.895	0.29513	N	0.854088	B;P;P;P;P;P	0.41313	0.409;0.745;0.737;0.669;0.737;0.669	B;B;B;B;B;B	0.43508	0.216;0.229;0.422;0.192;0.422;0.192	T	0.70219	-0.4932	10	0.37606	T	0.19	-6.6465	19.0625	0.93099	0.0:0.0:1.0:0.0	.	200;200;199;188;200;188	B3FTQ2;E7ENI6;Q96HG3;B9ZVM7;Q05084;E9PDL4	.;.;.;.;ICA69_HUMAN;.	I	200;200;199;200;188;200;200;188	ENSP00000385570:L200I;ENSP00000385651:L200I;ENSP00000265577:L199I;ENSP00000379908:L200I;ENSP00000385305:L188I;ENSP00000403982:L200I;ENSP00000386021:L200I;ENSP00000316074:L188I	ENSP00000265577:L199I	L	-	1	0	ICA1	8164789	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	2.611000	0.46334	2.826000	0.97356	0.561000	0.74099	CTT		PASS	0.393	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		28	33	28	33	---	---	---	---
HDAC9	9734	broad.mit.edu	37	7	18767237	18767237	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr7:18767237C>T	ENST00000432645.2	+	12	1757	c.1757C>T	c.(1756-1758)tCt>tTt	p.S586F	HDAC9_ENST00000401921.1_Missense_Mutation_p.S545F|HDAC9_ENST00000406451.4_Missense_Mutation_p.S586F|HDAC9_ENST00000441542.2_Missense_Mutation_p.S589F	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	586					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.S589F(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CGTGCGCTCTCTGTGCGCCAA	0.542																																						uc003suh.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|central_nervous_system(2)|kidney(1)	5						c.(1756-1758)TCT>TTT		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						37.0	42.0	40.0					7																	18767237		2031	4179	6210	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18767237C>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1757C>T	7.37:g.18767237C>T	ENSP00000410337:p.Ser586Phe					HDAC9_uc003sue.2_Missense_Mutation_p.S586F|HDAC9_uc011jyd.1_Missense_Mutation_p.S586F|HDAC9_uc003sui.2_Missense_Mutation_p.S589F|HDAC9_uc003suj.2_Missense_Mutation_p.S545F|HDAC9_uc003sua.1_Missense_Mutation_p.S564F|HDAC9_uc010kue.1_Missense_Mutation_p.S241F	p.S586F	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			12	1798	+	all_lung(11;0.187)		586					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.1757C>T	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.937744	0.34189	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.58940	0.31;0.3;0.31;0.3	5.12	5.12	0.69794	.	1.040220	0.07633	N	0.929010	T	0.54013	0.1832	L	0.44542	1.39	0.43902	D	0.996539	P;P;P;P;P;P;P	0.52316	0.589;0.589;0.785;0.785;0.679;0.785;0.952	B;B;B;B;B;B;B	0.41764	0.26;0.173;0.366;0.366;0.133;0.366;0.211	T	0.54146	-0.8337	10	0.62326	D	0.03	-5.6789	12.1922	0.54278	0.2871:0.7129:0.0:0.0	.	586;498;545;589;586;586;564	Q9UKV0-4;Q9UKV0-2;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;.;HDAC9_HUMAN;.;.	F	586;545;586;589;498	ENSP00000384657:S586F;ENSP00000383912:S545F;ENSP00000410337:S586F;ENSP00000408617:S589F	ENSP00000339165:S498F	S	+	2	0	HDAC9	18733762	0.712000	0.27916	0.256000	0.24389	0.371000	0.29859	2.024000	0.41049	2.531000	0.85337	0.557000	0.71058	TCT		PASS	0.542	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			6	26	6	26	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21912964	21912964	+	Silent	SNP	A	A	C			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr7:21912964A>C	ENST00000409508.3	+	74	12071	c.12040A>C	c.(12040-12042)Aga>Cga	p.R4014R	DNAH11_ENST00000328843.6_Silent_p.R4021R	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4021	AAA 6. {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.R4021R(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGAAGCCACAGAGATTACAG	0.438									Kartagener syndrome																													uc003svc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(12061-12063)AGA>CGA		dynein, axonemal, heavy chain 11							47.0	46.0	46.0					7																	21912964		1900	4122	6022	SO:0001819	synonymous_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21912964A>C	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.12040A>C	7.37:g.21912964A>C							p.R4021R	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			75	12092	+			4021			AAA 6 (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.12061A>C																																																																																					PASS	0.438	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		16	24	16	24	---	---	---	---
INHBA	3624	broad.mit.edu	37	7	41739630	41739630	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr7:41739630C>G	ENST00000242208.4	-	2	589	c.343G>C	c.(343-345)Gaa>Caa	p.E115Q	INHBA-AS1_ENST00000422822.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000415848.2_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.E115Q	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	115					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.E115Q(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TCCATAAGTTCATTCATTTCT	0.552										TSP Lung(11;0.080)																												uc003thq.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(1)	6						c.(343-345)GAA>CAA		inhibin beta A precursor							243.0	237.0	239.0					7																	41739630		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41739630C>G		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.343G>C	7.37:g.41739630C>G	ENSP00000242208:p.Glu115Gln	TSP Lung(11;0.080)				LOC285954_uc003tht.3_Intron|INHBA_uc003thr.2_Missense_Mutation_p.E115Q|LOC285954_uc003ths.2_Intron	p.E115Q	NM_002192	NP_002183	P08476	INHBA_HUMAN			1	578	-			115					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.343G>C	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905225	0.72868	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.66099	-0.19;-0.19	5.49	5.49	0.81192	Transforming growth factor-beta, N-terminal (1);	0.258671	0.31976	N	0.006764	T	0.55369	0.1916	L	0.49126	1.545	0.58432	D	0.999999	P	0.34934	0.476	B	0.29267	0.1	T	0.53493	-0.8431	10	0.16420	T	0.52	-15.6929	19.3797	0.94527	0.0:1.0:0.0:0.0	.	115	P08476	INHBA_HUMAN	Q	115	ENSP00000242208:E115Q;ENSP00000397197:E115Q	ENSP00000242208:E115Q	E	-	1	0	INHBA	41706155	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.819000	0.39022	2.576000	0.86940	0.655000	0.94253	GAA		PASS	0.552	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			21	293	21	293	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48312439	48312439	+	Missense_Mutation	SNP	A	A	G			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr7:48312439A>G	ENST00000435803.1	+	17	3200	c.3176A>G	c.(3175-3177)cAc>cGc	p.H1059R		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1059					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.H1004R(1)|p.H1059R(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAAGTGATCCACACTACTTTG	0.373																																						uc003toq.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(3175-3177)CAC>CGC		ATP binding cassette, sub-family A (ABC1),							35.0	32.0	33.0					7																	48312439		1843	4089	5932	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48312439A>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.3176A>G	7.37:g.48312439A>G	ENSP00000411096:p.His1059Arg					ABCA13_uc010kyr.2_Missense_Mutation_p.H562R	p.H1059R	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	3201	+			1059					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.3176A>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	10.14	1.267769	0.23136	.	.	ENSG00000179869	ENST00000435803	D	0.87650	-2.28	5.81	4.63	0.57726	.	0.125809	0.35739	N	0.003013	D	0.87993	0.6318	M	0.66939	2.045	0.09310	N	0.999999	D	0.60575	0.988	P	0.51657	0.676	T	0.81645	-0.0839	10	0.87932	D	0	.	7.4544	0.27257	0.7071:0.139:0.0:0.1539	.	1059	Q86UQ4	ABCAD_HUMAN	R	1059	ENSP00000411096:H1059R	ENSP00000411096:H1059R	H	+	2	0	ABCA13	48282985	0.066000	0.20996	0.005000	0.12908	0.014000	0.08584	1.975000	0.40569	1.073000	0.40885	0.533000	0.62120	CAC		PASS	0.373	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		13	14	13	14	---	---	---	---
SEMA3D	223117	broad.mit.edu	37	7	84702397	84702397	+	Splice_Site	SNP	T	T	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr7:84702397T>A	ENST00000284136.6	-	4	419	c.376A>T	c.(376-378)Aca>Tca	p.T126S	SEMA3D_ENST00000444867.1_Splice_Site_p.T126S	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	126	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.T126S(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GCACATTCTGTCTGTTGGGCA	0.333																																					Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)	5						c.(376-378)ACA>TCA		semaphorin 3D precursor							100.0	95.0	97.0					7																	84702397		2203	4300	6503	SO:0001630	splice_region_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84702397T>A	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.376-1A>T	7.37:g.84702397T>A						SEMA3D_uc010led.2_Missense_Mutation_p.T126S|SEMA3D_uc010lee.1_Missense_Mutation_p.T126S	p.T126S	NM_152754	NP_689967	O95025	SEM3D_HUMAN			4	416	-			126			Sema.		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.376A>T	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	T	6.696	0.497131	0.12762	.	.	ENSG00000153993	ENST00000284136;ENST00000444867	T;T	0.11495	2.77;2.77	5.07	3.86	0.44501	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.362046	0.32015	N	0.006704	T	0.10121	0.0248	L	0.53561	1.675	0.33198	D	0.551744	P;B	0.38395	0.629;0.152	B;B	0.40410	0.328;0.207	T	0.11036	-1.0604	10	0.08837	T	0.75	.	6.3172	0.21196	0.1401:0.0765:0.0:0.7833	.	126;126	C9JYT6;O95025	.;SEM3D_HUMAN	S	126	ENSP00000284136:T126S;ENSP00000401366:T126S	ENSP00000284136:T126S	T	-	1	0	SEMA3D	84540333	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.753000	0.47524	0.711000	0.32018	0.455000	0.32223	ACA		PASS	0.333	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754	Missense_Mutation	9	29	9	29	---	---	---	---
HBP1	26959	broad.mit.edu	37	7	106830702	106830702	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr7:106830702C>T	ENST00000222574.4	+	8	1193	c.1007C>T	c.(1006-1008)cCt>cTt	p.P336L	HBP1_ENST00000468410.1_Missense_Mutation_p.P336L|CTA-363E19.2_ENST00000607036.1_RNA|HBP1_ENST00000461963.1_Intron|HBP1_ENST00000485846.1_Missense_Mutation_p.P336L	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	336	AXH. {ECO:0000255|PROSITE- ProRule:PRU00496}.				cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.P336L(1)		large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						GTATGTCTACCTCCTGGACAC	0.348																																						uc003vdy.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1006-1008)CCT>CTT		HMG-box transcription factor 1							275.0	244.0	254.0					7																	106830702		2203	4300	6503	SO:0001583	missense	26959				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding	g.chr7:106830702C>T	BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.1007C>T	7.37:g.106830702C>T	ENSP00000222574:p.Pro336Leu					HBP1_uc011klv.1_Missense_Mutation_p.P346L|HBP1_uc003vdz.2_Missense_Mutation_p.P336L|HBP1_uc003vea.2_Missense_Mutation_p.P336L|HBP1_uc003veb.1_Missense_Mutation_p.P336L	p.P336L	NM_012257	NP_036389	O60381	HBP1_HUMAN			8	1193	+			336			AXH.		B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	37	c.1007C>T	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172435	0.94807	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D	0.99399	-5.83;-5.83;-5.83	5.54	5.54	0.83059	Ataxin, AXH domain (1);Ataxin-1/HBP1 module (AXH) (3);	0.000000	0.85682	D	0.000000	D	0.99462	0.9809	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.996;0.998	D	0.99157	1.0860	10	0.66056	D	0.02	-9.8986	19.4753	0.94985	0.0:1.0:0.0:0.0	.	346;336;336	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	L	336;336;336;328	ENSP00000420500:P336L;ENSP00000222574:P336L;ENSP00000418738:P336L	ENSP00000222574:P336L	P	+	2	0	HBP1	106617938	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.607000	0.88179	0.561000	0.74099	CCT		PASS	0.348	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257		70	98	70	98	---	---	---	---
CBLL1	79872	broad.mit.edu	37	7	107399420	107399420	+	Missense_Mutation	SNP	A	A	G			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr7:107399420A>G	ENST00000440859.3	+	6	1740	c.1273A>G	c.(1273-1275)Aat>Gat	p.N425D	CBLL1_ENST00000222597.2_Missense_Mutation_p.N424D	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	425	Pro-rich.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N425D(1)		endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TCACCATTATAATCCTAACTC	0.507																																						uc003veq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(1273-1275)AAT>GAT		Cas-Br-M (murine) ecotropic retroviral							183.0	164.0	170.0					7																	107399420		2203	4300	6503	SO:0001583	missense	79872				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:107399420A>G	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.1273A>G	7.37:g.107399420A>G	ENSP00000401277:p.Asn425Asp					CBLL1_uc011kme.1_Missense_Mutation_p.N304D|CBLL1_uc011kmf.1_Missense_Mutation_p.N424D	p.N425D	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN			6	1603	+			425			Pro-rich.		B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	c.1273A>G	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.339785	0.60963	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597	T;T	0.36340	1.26;1.26	4.95	4.95	0.65309	.	0.098506	0.64402	D	0.000002	T	0.57562	0.2062	M	0.66939	2.045	0.80722	D	1	D;P	0.67145	0.996;0.827	D;B	0.73708	0.981;0.418	T	0.61123	-0.7126	10	0.59425	D	0.04	-0.2438	14.6648	0.68899	1.0:0.0:0.0:0.0	.	424;425	B7ZM03;Q75N03	.;HAKAI_HUMAN	D	425;304;424	ENSP00000401277:N425D;ENSP00000222597:N424D	ENSP00000222597:N424D	N	+	1	0	CBLL1	107186656	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.282000	0.89907	1.880000	0.54463	0.235000	0.17854	AAT		PASS	0.507	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		49	111	49	111	---	---	---	---
LAMB4	22798	broad.mit.edu	37	7	107756483	107756483	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr7:107756483C>G	ENST00000388781.3	-	3	241	c.158G>C	c.(157-159)aGa>aCa	p.R53T	LAMB4_ENST00000414450.2_Missense_Mutation_p.R53T|LAMB4_ENST00000205386.4_Missense_Mutation_p.R53T|LAMB4_ENST00000388780.3_Missense_Mutation_p.R53T|LAMB4_ENST00000418464.1_Missense_Mutation_p.R53T	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	53	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.R53T(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTTCTGGGCTCTGCTCAGCCC	0.493																																						uc010ljo.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(157-159)AGA>ACA		laminin, beta 4 precursor							89.0	93.0	91.0					7																	107756483		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107756483C>G	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.158G>C	7.37:g.107756483C>G	ENSP00000373433:p.Arg53Thr					LAMB4_uc003vey.2_Missense_Mutation_p.R53T	p.R53T	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			3	242	-			53			Laminin N-terminal.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.158G>C	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437443	0.25900	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89	5.17	1.32	0.21799	Laminin, N-terminal (3);	0.729845	0.12068	N	0.502492	T	0.63390	0.2507	L	0.39397	1.21	0.09310	N	1	B	0.30563	0.285	B	0.28011	0.085	T	0.47923	-0.9079	10	0.33940	T	0.23	.	10.4639	0.44596	0.0:0.7371:0.0:0.2629	.	53	A4D0S4	LAMB4_HUMAN	T	53	ENSP00000205386:R53T;ENSP00000373433:R53T;ENSP00000373432:R53T;ENSP00000402353:R53T;ENSP00000402265:R53T	ENSP00000205386:R53T	R	-	2	0	LAMB4	107543719	0.069000	0.21087	0.009000	0.14445	0.875000	0.50365	1.659000	0.37387	0.058000	0.16222	-0.150000	0.13652	AGA		PASS	0.493	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		34	63	34	63	---	---	---	---
PRSS37	136242	broad.mit.edu	37	7	141536910	141536910	+	Splice_Site	SNP	A	A	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr7:141536910A>T	ENST00000350549.3	-	4	939		c.e4+1		PRSS37_ENST00000438520.1_Splice_Site	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37						binding of sperm to zona pellucida (GO:0007339)|cell migration (GO:0016477)|protein maturation (GO:0051604)	extracellular region (GO:0005576)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.?(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						AGATAAGATTACCCCAAAAAT	0.328																																						uc003vws.1																			1	Unknown(1)		lung(1)	skin(1)	1						c.e4+1		protease, serine, 37 precursor							85.0	85.0	85.0					7																	141536910		2203	4300	6503	SO:0001630	splice_region_variant	136242				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141536910A>T		CCDS34764.1	7q34	2010-05-07			ENSG00000165076	ENSG00000165076		"""Serine peptidases / Serine peptidases"""	29211	protein-coding gene	gene with protein product							Standard	NM_001008270		Approved		uc003vws.2	A4D1T9	OTTHUMG00000157174	ENST00000350549.3:c.567+1T>A	7.37:g.141536910A>T						PRSS37_uc011krk.1_Splice_Site_p.G176_splice|PRSS37_uc011krl.1_Splice_Site_p.G188_splice|PRSS37_uc003vwt.1_Splice_Site_p.G176_splice	p.G189_splice	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN			4	939	-								B2RPB5	Splice_Site	SNP	ENST00000350549.3	37	c.567_splice	CCDS34764.1	.	.	.	.	.	.	.	.	.	.	A	17.83	3.485305	0.63962	.	.	ENSG00000165076	ENST00000350549;ENST00000438520	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1892	0.54261	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRSS37	141183379	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	3.846000	0.55888	2.371000	0.80710	0.533000	0.62120	.		PASS	0.328	PRSS37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347763.1	NM_001008270	Intron	28	36	28	36	---	---	---	---
OR2A14	135941	broad.mit.edu	37	7	143826669	143826669	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr7:143826669C>A	ENST00000408899.2	+	1	519	c.464C>A	c.(463-465)gCt>gAt	p.A155D		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A155D(1)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TTCCTCCTGGCTCTGGTCCCT	0.537																																						uc011kua.1																			1	Substitution - Missense(1)		lung(1)		0						c.(463-465)GCT>GAT		olfactory receptor, family 2, subfamily A,							198.0	218.0	211.0					7																	143826669		2143	4257	6400	SO:0001583	missense	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826669C>A		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.464C>A	7.37:g.143826669C>A	ENSP00000386137:p.Ala155Asp						p.A155D	NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN			1	464	+	Melanoma(164;0.0783)		155			Helical; Name=4; (Potential).		Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	c.464C>A	CCDS43672.1	.	.	.	.	.	.	.	.	.	.	C	4.534	0.099073	0.08681	.	.	ENSG00000221938	ENST00000408899	T	0.42513	0.97	4.18	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32314	U	0.006271	T	0.48333	0.1494	M	0.88377	2.95	0.09310	N	0.999999	B	0.15141	0.012	B	0.26770	0.073	T	0.52638	-0.8549	10	0.72032	D	0.01	-1.8949	7.169	0.25708	0.1962:0.6136:0.1902:0.0	.	155	Q96R47	O2A14_HUMAN	D	155	ENSP00000386137:A155D	ENSP00000386137:A155D	A	+	2	0	OR2A14	143457602	0.000000	0.05858	0.013000	0.15412	0.011000	0.07611	1.194000	0.32174	1.048000	0.40298	0.561000	0.74099	GCT		PASS	0.537	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			10	229	10	229	---	---	---	---
PTK2B	2185	broad.mit.edu	37	8	27315846	27315846	+	Silent	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr8:27315846G>T	ENST00000397501.1	+	36	3658	c.2850G>T	c.(2848-2850)ctG>ctT	p.L950L	PTK2B_ENST00000544172.1_Silent_p.L950L|PTK2B_ENST00000346049.5_Silent_p.L950L|PTK2B_ENST00000338238.4_Silent_p.L908L|PTK2B_ENST00000420218.2_Silent_p.L908L|PTK2B_ENST00000517339.1_Silent_p.L908L	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	950	Focal adhesion targeting (FAT).|Interaction with TGFB1I1. {ECO:0000250}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.L950L(2)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	ACAAAGACCTGGCAGAGCTCA	0.557																																						uc003xfn.1																			2	Substitution - coding silent(2)		lung(2)	lung(3)|ovary(1)|skin(1)	5						c.(2848-2850)CTG>CTT		PTK2B protein tyrosine kinase 2 beta isoform a							77.0	58.0	65.0					8																	27315846		2203	4300	6503	SO:0001819	synonymous_variant	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27315846G>T	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2850G>T	8.37:g.27315846G>T						PTK2B_uc003xfo.1_Silent_p.L950L|PTK2B_uc003xfp.1_Silent_p.L950L|PTK2B_uc003xfq.1_Silent_p.L908L	p.L950L	NM_173174	NP_775266	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	36	3658	+		Ovarian(32;2.72e-05)	950			Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP	ENST00000397501.1	37	c.2850G>T	CCDS6057.1																																																																																				PASS	0.557	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		9	7	9	7	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113418786	113418786	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr8:113418786C>A	ENST00000297405.5	-	35	6020	c.5776G>T	c.(5776-5778)Gcc>Tcc	p.A1926S	CSMD3_ENST00000455883.2_Missense_Mutation_p.A1822S|CSMD3_ENST00000352409.3_Missense_Mutation_p.A1856S|CSMD3_ENST00000343508.3_Missense_Mutation_p.A1886S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1926	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A1886S(1)|p.A1926S(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						TTCCACTGGGCCAAAGAATTG	0.343										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.(5776-5778)GCC>TCC		CUB and Sushi multiple domains 3 isoform 1							94.0	94.0	94.0					8																	113418786		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113418786C>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.5776G>T	8.37:g.113418786C>A	ENSP00000297405:p.Ala1926Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.A1128S|CSMD3_uc003ynt.2_Missense_Mutation_p.A1886S|CSMD3_uc011lhx.1_Missense_Mutation_p.A1822S	p.A1926S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			35	5935	-			1926			Sushi 10.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5776G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328597	0.81690	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	4.8	3.93	0.45458	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.72558	0.3475	L	0.49699	1.58	0.51233	D	0.999918	D;P;D	0.89917	0.957;0.855;1.0	P;P;D	0.91635	0.753;0.59;0.999	T	0.72915	-0.4147	10	0.45353	T	0.12	.	13.3481	0.60587	0.0:0.9235:0.0:0.0765	.	1822;1926;1886	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	1886;1926;1196;1822;1856	ENSP00000345799:A1886S;ENSP00000297405:A1926S;ENSP00000341558:A1196S;ENSP00000412263:A1822S;ENSP00000343124:A1856S	ENSP00000297405:A1926S	A	-	1	0	CSMD3	113487962	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.606000	0.82863	1.385000	0.46445	0.655000	0.94253	GCC		PASS	0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	40	4	40	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124340506	124340506	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr8:124340506C>G	ENST00000287394.5	-	25	3899	c.3792G>C	c.(3790-3792)ttG>ttC	p.L1264F	ATAD2_ENST00000521903.1_Missense_Mutation_p.L582F	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1264					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L1264F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TCTTGTCTCTCAATTCTGTAC	0.328																																						uc003yqh.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3790-3792)TTG>TTC		ATPase family, AAA domain containing 2							92.0	86.0	88.0					8																	124340506		2203	4298	6501	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124340506C>G	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.3792G>C	8.37:g.124340506C>G	ENSP00000287394:p.Leu1264Phe					ATAD2_uc011lii.1_Missense_Mutation_p.L1055F|ATAD2_uc003yqi.3_RNA	p.L1264F	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		25	3900	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		1264					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.3792G>C	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	3.549	-0.092088	0.07053	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	D;T	0.91843	-2.92;1.49	5.32	-3.34	0.04943	.	1.311970	0.04575	N	0.394006	D	0.85915	0.5808	L	0.44542	1.39	0.09310	N	0.999998	B	0.28933	0.228	B	0.27262	0.078	T	0.71748	-0.4499	10	0.10111	T	0.7	-0.1256	8.1877	0.31348	0.1171:0.1189:0.0:0.764	.	1264	Q6PL18	ATAD2_HUMAN	F	1264;582	ENSP00000287394:L1264F;ENSP00000429213:L582F	ENSP00000287394:L1264F	L	-	3	2	ATAD2	124409687	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.077000	0.11394	-0.751000	0.04734	-0.143000	0.13931	TTG		PASS	0.328	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		6	31	6	31	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14823222	14823222	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr9:14823222C>T	ENST00000380880.3	-	13	3056	c.2273G>A	c.(2272-2274)gGc>gAc	p.G758D	FREM1_ENST00000422223.2_Missense_Mutation_p.G758D|FREM1_ENST00000380881.4_Missense_Mutation_p.G759D			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	758					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.G759D(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)		CAAAGTACCGCCATGTTGGTT	0.443																																						uc003zlm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(2272-2274)GGC>GAC		FRAS1 related extracellular matrix 1 precursor							162.0	153.0	156.0					9																	14823222		1923	4135	6058	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14823222C>T	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.2273G>A	9.37:g.14823222C>T	ENSP00000370262:p.Gly758Asp					FREM1_uc010mic.2_RNA	p.G758D	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	13	2863	-			758			CSPG 4.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.2273G>A	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061442	0.93846	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.30182	1.54;1.54;1.54	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.65396	0.2687	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70149	-0.4951	10	0.52906	T	0.07	-18.7328	19.7555	0.96287	0.0:1.0:0.0:0.0	.	758	Q5H8C1	FREM1_HUMAN	D	759;758;758	ENSP00000370263:G759D;ENSP00000412940:G758D;ENSP00000370262:G758D	ENSP00000370257:G761D	G	-	2	0	FREM1	14813222	1.000000	0.71417	0.896000	0.35187	0.841000	0.47740	7.445000	0.80570	2.737000	0.93849	0.563000	0.77884	GGC		PASS	0.443	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		55	33	55	33	---	---	---	---
SPATA31E1	286234	broad.mit.edu	37	9	90500689	90500689	+	Silent	SNP	G	G	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr9:90500689G>A	ENST00000325643.5	+	4	1353	c.1287G>A	c.(1285-1287)ggG>ggA	p.G429G		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	429					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.G429G(1)									CAACCGTGGGGAACCACTTAC	0.572																																						uc004app.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1285-1287)GGG>GGA		chromosome 9 open reading frame 79							110.0	95.0	100.0					9																	90500689		2203	4300	6503	SO:0001819	synonymous_variant	286234					integral to membrane		g.chr9:90500689G>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1287G>A	9.37:g.90500689G>A						C9orf79_uc004apo.1_Silent_p.G241G	p.G429G	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	1322	+			429					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.1287G>A	CCDS6676.1																																																																																				PASS	0.572	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		31	75	31	75	---	---	---	---
MVB12B	89853	broad.mit.edu	37	9	129184187	129184187	+	Silent	SNP	G	G	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr9:129184187G>A	ENST00000361171.3	+	7	798	c.717G>A	c.(715-717)acG>acA	p.T239T	MVB12B_ENST00000436593.3_Silent_p.T224T	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	239					protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)	p.T239T(1)									GCACCCGGACGGACTACGAGT	0.562																																						uc004bqh.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(715-717)ACG>ACA		hypothetical protein LOC89853 isoform 1							157.0	134.0	142.0					9																	129184187		2203	4300	6503	SO:0001819	synonymous_variant	89853				protein transport	late endosome membrane		g.chr9:129184187G>A	AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 28"", ""family with sequence similarity 125, member B"""	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.717G>A	9.37:g.129184187G>A						FAM125B_uc011lzy.1_Silent_p.T224T|FAM125B_uc010mxd.2_Silent_p.T232T	p.T239T	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN			7	798	+			239					Q8N6S7	Silent	SNP	ENST00000361171.3	37	c.717G>A	CCDS35142.1																																																																																				PASS	0.562	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	XM_088525		33	64	33	64	---	---	---	---
GARNL3	84253	broad.mit.edu	37	9	130145740	130145740	+	Missense_Mutation	SNP	T	T	C			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr9:130145740T>C	ENST00000373387.4	+	23	2537	c.2185T>C	c.(2185-2187)Tgc>Cgc	p.C729R	GARNL3_ENST00000435213.2_Missense_Mutation_p.C707R|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000314904.5_Missense_Mutation_p.C729R	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	729	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)	p.C711R(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TAAAAAGGTTTGCCCCTTTAA	0.373																																						uc011mae.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2185-2187)TGC>CGC		GTPase activating Rap/RanGAP domain-like 3							114.0	104.0	107.0					9																	130145740		2203	4300	6503	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130145740T>C	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.2185T>C	9.37:g.130145740T>C	ENSP00000362485:p.Cys729Arg					GARNL3_uc011mad.1_Missense_Mutation_p.C707R|GARNL3_uc010mxi.2_5'UTR	p.C729R	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN			23	2586	+			729			CNH.		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.2185T>C	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	T	15.23	2.771787	0.49680	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	D;D;D	0.87029	-2.2;-2.18;-2.2	5.81	5.81	0.92471	Citron-like (2);	0.044163	0.85682	D	0.000000	D	0.83543	0.5277	L	0.54323	1.7	0.80722	D	1	B;P	0.36874	0.205;0.572	B;B	0.33295	0.161;0.115	T	0.82444	-0.0454	9	.	.	.	.	14.9908	0.71387	0.0:0.0:0.0:1.0	.	729;707	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	R	707;729;729	ENSP00000396205:C707R;ENSP00000313970:C729R;ENSP00000362485:C729R	.	C	+	1	0	GARNL3	129185561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.136000	0.58004	2.210000	0.71456	0.533000	0.62120	TGC		PASS	0.373	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		11	10	11	10	---	---	---	---
RXRA	6256	broad.mit.edu	37	9	137300876	137300876	+	Missense_Mutation	SNP	A	A	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr9:137300876A>T	ENST00000481739.1	+	4	573	c.521A>T	c.(520-522)aAc>aTc	p.N174I	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000540193.1_Missense_Mutation_p.N77I	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	174					camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)	p.N174I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	TGCCGCGACAACAAGGACTGC	0.622																																						uc004cfb.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(520-522)AAC>ATC		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						121.0	101.0	108.0					9																	137300876		2203	4300	6503	SO:0001583	missense	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137300876A>T	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.521A>T	9.37:g.137300876A>T	ENSP00000419692:p.Asn174Ile					RXRA_uc004cfc.1_Missense_Mutation_p.N77I	p.N174I	NM_002957	NP_002948	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	4	683	+			174			NR C4-type.|Nuclear receptor.		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	c.521A>T	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.745043	0.49151	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	D;D	0.97455	-4.39;-4.39	4.25	4.25	0.50352	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.045321	0.85682	D	0.000000	D	0.95633	0.8580	M	0.70787	2.145	0.58432	D	0.999997	B	0.15141	0.012	B	0.27715	0.082	D	0.93806	0.7105	10	0.66056	D	0.02	.	8.4288	0.32744	0.9097:0.0:0.0903:0.0	.	174	P19793	RXRA_HUMAN	I	174;77	ENSP00000419692:N174I;ENSP00000442123:N77I	ENSP00000419692:N174I	N	+	2	0	RXRA	136440697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.028000	0.64115	1.670000	0.50864	0.459000	0.35465	AAC		PASS	0.622	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		17	43	17	43	---	---	---	---
LCN6	158062	broad.mit.edu	37	9	139641878	139641878	+	Missense_Mutation	SNP	G	G	T	rs150825099		TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr9:139641878G>T	ENST00000341206.4	-	2	272	c.228C>A	c.(226-228)caC>caA	p.H76Q	LCN6_ENST00000471509.1_5'Flank|LCN6_ENST00000435202.1_Missense_Mutation_p.H66Q|LCN6_ENST00000480584.1_5'Flank|LCN6_ENST00000476567.1_5'Flank	NM_198946.2	NP_945184.1	P62502	LCN6_HUMAN	lipocalin 6	76					single fertilization (GO:0007338)	extracellular region (GO:0005576)		p.H76Q(1)		lung(3)|upper_aerodigestive_tract(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		CCACTCACCCGTGCTGAGAGG	0.627																																					Melanoma(172;919 2704 37090 48131)	uc004ciy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(226-228)CAC>CAA		lipocalin 6 precursor							79.0	64.0	69.0					9																	139641878		2203	4300	6503	SO:0001583	missense	158062				single fertilization	extracellular region	binding	g.chr9:139641878G>T	AF303084	CCDS7005.1	9q34.3	2012-10-08			ENSG00000267206	ENSG00000267206		"""Lipocalins"""	17337	protein-coding gene	gene with protein product		609379					Standard	NM_198946		Approved		uc004ciy.2	P62502	OTTHUMG00000020941	ENST00000341206.4:c.228C>A	9.37:g.139641878G>T	ENSP00000339621:p.His76Gln					LCN10_uc004ciw.2_RNA|uc004ciz.1_RNA	p.H76Q	NM_198946	NP_945184	P62502	LCN6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)	2	273	-	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	76					B0QZ80|Q71SF6	Missense_Mutation	SNP	ENST00000341206.4	37	c.228C>A	CCDS7005.1	.	.	.	.	.	.	.	.	.	.	G	1.078	-0.667936	0.03428	.	.	ENSG00000204003	ENST00000341206	T	0.06294	3.32	2.94	-1.44	0.08856	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.224214	0.22913	N	0.054116	T	0.04543	0.0124	L	0.42245	1.32	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35943	-0.9768	10	0.29301	T	0.29	-11.4602	4.0932	0.09978	0.233:0.3899:0.3771:0.0	.	76	P62502	LCN6_HUMAN	Q	76	ENSP00000339621:H76Q	ENSP00000339621:H76Q	H	-	3	2	LCN6	138761699	0.000000	0.05858	0.021000	0.16686	0.229000	0.25112	-0.929000	0.03976	-0.319000	0.08652	-0.271000	0.10264	CAC		PASS	0.627	LCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055107.3	NM_198946		13	12	13	12	---	---	---	---
NRG3	10718	broad.mit.edu	37	10	84745280	84745280	+	Silent	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr10:84745280G>T	ENST00000404547.1	+	10	2082	c.2082G>T	c.(2080-2082)ctG>ctT	p.L694L	NRG3_ENST00000404576.2_Silent_p.L474L|NRG3_ENST00000556918.1_Silent_p.L500L|NRG3_ENST00000545131.1_Silent_p.L320L|NRG3_ENST00000372142.2_Silent_p.L473L|NRG3_ENST00000537893.1_Silent_p.L320L|NRG3_ENST00000372141.2_Silent_p.L670L			P56975	NRG3_HUMAN	neuregulin 3	694					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.L670L(1)|p.L473L(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TTCTCCCCCTGAGTCCCACAG	0.478																																						uc001kco.2																			2	Substitution - coding silent(2)		lung(2)	lung(5)|breast(1)	6						c.(2008-2010)CTG>CTT		neuregulin 3 isoform 1							76.0	70.0	72.0					10																	84745280		2203	4300	6503	SO:0001819	synonymous_variant	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84745280G>T	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.2082G>T	10.37:g.84745280G>T						NRG3_uc010qlz.1_Silent_p.L669L|NRG3_uc001kcp.2_Silent_p.L473L|NRG3_uc001kcq.2_Silent_p.L320L|NRG3_uc001kcr.2_Silent_p.L344L	p.L670L	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	9	2037	+			694			Cytoplasmic (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Silent	SNP	ENST00000404547.1	37	c.2010G>T	CCDS31233.1																																																																																				PASS	0.478	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		15	37	15	37	---	---	---	---
PIK3AP1	118788	broad.mit.edu	37	10	98386609	98386609	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr10:98386609C>T	ENST00000339364.5	-	10	1644	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.E331K|PIK3AP1_ENST00000468783.1_5'Flank|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.E108K	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	509					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)	p.E509K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ACATCTTCTTCCTGACCAAGA	0.537																																						uc001kmq.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5						c.(1525-1527)GAA>AAA		phosphoinositide-3-kinase adaptor protein 1							189.0	159.0	169.0					10																	98386609		2203	4300	6503	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98386609C>T	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1525G>A	10.37:g.98386609C>T	ENSP00000339826:p.Glu509Lys					PIK3AP1_uc001kmo.2_Missense_Mutation_p.E108K|PIK3AP1_uc001kmp.2_Missense_Mutation_p.E331K	p.E509K	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	10	1653	-		Colorectal(252;0.0442)	509					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.1525G>A	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.722391	0.30503	.	.	ENSG00000155629	ENST00000339364;ENST00000371110;ENST00000371109	T;T;T	0.23950	2.92;2.24;1.88	5.49	3.58	0.41010	.	0.851981	0.10988	N	0.611957	T	0.13543	0.0328	N	0.17082	0.46	0.09310	N	1	B;B	0.28933	0.082;0.228	B;B	0.27796	0.022;0.083	T	0.23868	-1.0176	10	0.07813	T	0.8	-0.3478	8.4408	0.32814	0.0:0.6239:0.2974:0.0787	.	509;108	Q6ZUJ8;Q6ZUJ8-3	BCAP_HUMAN;.	K	509;331;108	ENSP00000339826:E509K;ENSP00000360151:E331K;ENSP00000360150:E108K	ENSP00000339826:E509K	E	-	1	0	PIK3AP1	98376599	0.000000	0.05858	0.009000	0.14445	0.402000	0.30811	0.638000	0.24674	1.265000	0.44215	0.561000	0.74099	GAA		PASS	0.537	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		13	33	13	33	---	---	---	---
PDZD7	79955	broad.mit.edu	37	10	102781698	102781698	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr10:102781698C>A	ENST00000370215.3	-	6	949	c.724G>T	c.(724-726)Gac>Tac	p.D242Y		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	242	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.D242N(2)|p.D242Y(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CCACCATGGTCCACTCTGAGG	0.627																																						uc001kso.1																			4	Substitution - Missense(4)		lung(4)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(724-726)GAC>TAC		PDZ domain containing 7							96.0	74.0	81.0					10																	102781698		2203	4300	6503	SO:0001583	missense	79955					cilium|nucleus	protein binding	g.chr10:102781698C>A	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.724G>T	10.37:g.102781698C>A	ENSP00000359234:p.Asp242Tyr					PDZD7_uc001ksn.2_Missense_Mutation_p.D242Y	p.D242Y	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	6	939	-			242			PDZ 2.		D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	37	c.724G>T	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215672	0.79352	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.27557	1.66	5.36	5.36	0.76844	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.50650	0.1628	L	0.42581	1.335	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.994	T	0.50709	-0.8796	10	0.72032	D	0.01	.	19.0744	0.93154	0.0:1.0:0.0:0.0	.	242;242	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	Y	242	ENSP00000359234:D242Y	ENSP00000359234:D242Y	D	-	1	0	PDZD7	102771688	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	7.146000	0.77373	2.515000	0.84797	0.462000	0.41574	GAC		PASS	0.627	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		6	19	6	19	---	---	---	---
OR56B1	387748	broad.mit.edu	37	11	5758307	5758307	+	Silent	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr11:5758307G>T	ENST00000317121.3	+	1	627	c.561G>T	c.(559-561)ctG>ctT	p.L187L	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L187L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		AACACTGCCTGTGCTCTAACC	0.498																																						uc001mbt.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(559-561)CTG>CTT		olfactory receptor, family 56, subfamily B,							102.0	90.0	94.0					11																	5758307		2201	4297	6498	SO:0001819	synonymous_variant	387748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5758307G>T	BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"""GPCR / Class A : Olfactory receptors"""	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.561G>T	11.37:g.5758307G>T						TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|OR56B1_uc001mbs.1_Silent_p.L187L|OR56B1_uc009yev.1_Silent_p.L187L	p.L187L	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)	1	561	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)	187			Extracellular (Potential).		B2RNY6|B3KV42|Q6IF76	Silent	SNP	ENST00000317121.3	37	c.561G>T	CCDS31395.1																																																																																				PASS	0.498	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143354.1	NM_001005180		6	38	6	38	---	---	---	---
OR52E6	390078	broad.mit.edu	37	11	5862830	5862830	+	Missense_Mutation	SNP	G	G	T	rs369883736	byFrequency	TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr11:5862830G>T	ENST00000329322.5	-	1	297	c.298C>A	c.(298-300)Ctt>Att	p.L100I	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.L104I	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L104I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTGAGAAAGGTAGCCTCCA	0.453																																						uc010qzq.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(298-300)CTT>ATT		olfactory receptor, family 52, subfamily E,																																				SO:0001583	missense	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862830G>T	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.298C>A	11.37:g.5862830G>T	ENSP00000328878:p.Leu100Ile					TRIM5_uc001mbq.1_Intron	p.L100I	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	298	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	100			Extracellular (Potential).		Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	c.298C>A	CCDS53597.1	.	.	.	.	.	.	.	.	.	.	g	9.902	1.207230	0.22205	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.20738	2.05;2.05	3.64	-0.788	0.10939	GPCR, rhodopsin-like superfamily (1);	0.138458	0.32970	N	0.005438	T	0.15305	0.0369	L	0.49513	1.565	0.09310	N	0.999999	B	0.25719	0.132	B	0.24006	0.05	T	0.14227	-1.0480	10	0.42905	T	0.14	.	5.8896	0.18899	0.1649:0.3028:0.5323:0.0	.	100	Q96RD3	O52E6_HUMAN	I	100;104	ENSP00000328878:L100I;ENSP00000369279:L104I	ENSP00000328878:L100I	L	-	1	0	OR52E6	5819406	0.000000	0.05858	0.003000	0.11579	0.834000	0.47266	-3.174000	0.00571	-0.028000	0.13850	-0.231000	0.12243	CTT		PASS	0.453	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		27	116	27	116	---	---	---	---
NLRP10	338322	broad.mit.edu	37	11	7982580	7982580	+	Silent	SNP	A	A	G			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr11:7982580A>G	ENST00000328600.2	-	2	740	c.579T>C	c.(577-579)ggT>ggC	p.G193G		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	193	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)	p.G193G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGTACAGAGTACCGGTGGCCC	0.527																																						uc001mfv.1																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9						c.(577-579)GGT>GGC		NLR family, pyrin domain containing 10							53.0	56.0	55.0					11																	7982580		2201	4296	6497	SO:0001819	synonymous_variant	338322						ATP binding	g.chr11:7982580A>G	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.579T>C	11.37:g.7982580A>G							p.G193G	NM_176821	NP_789791	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	596	-			193			NACHT.		Q2M3C4|Q6JGT0	Silent	SNP	ENST00000328600.2	37	c.579T>C	CCDS7784.1																																																																																				PASS	0.527	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		8	13	8	13	---	---	---	---
ALKBH3	221120	broad.mit.edu	37	11	43923170	43923170	+	Silent	SNP	G	G	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr11:43923170G>A	ENST00000302708.4	+	8	975	c.564G>A	c.(562-564)gtG>gtA	p.V188V	ALKBH3_ENST00000532410.1_Intron	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	188	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)	p.V188V(1)		endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	AGGACAGCGTGGACTGGCACA	0.493								Direct reversal of damage																														uc001mxs.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(562-564)GTG>GTA	Direct_reversal_of_damage	AlkB homolog 3	Vitamin C(DB00126)						172.0	143.0	153.0					11																	43923170		2203	4300	6503	SO:0001819	synonymous_variant	221120				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:43923170G>A	AB042029	CCDS7906.1	11p11.2	2013-10-11			ENSG00000166199	ENSG00000166199		"""Alkylation repair homologs"""	30141	protein-coding gene	gene with protein product		610603				22055184	Standard	NM_139178		Approved	DEPC-1	uc001mxs.2	Q96Q83	OTTHUMG00000166417	ENST00000302708.4:c.564G>A	11.37:g.43923170G>A						ALKBH3_uc009ykp.2_RNA|ALKBH3_uc001mxt.2_RNA|ALKBH3_uc009ykq.2_Silent_p.V41V	p.V188V	NM_139178	NP_631917	Q96Q83	ALKB3_HUMAN			8	1007	+			188			Fe2OG dioxygenase.		A6NDJ1|Q3SYI0|Q6NX57|Q96BU8	Silent	SNP	ENST00000302708.4	37	c.564G>A	CCDS7906.1	.	.	.	.	.	.	.	.	.	.	g	9.759	1.169439	0.21621	.	.	ENSG00000166199	ENST00000532129	.	.	.	5.67	-0.952	0.10366	.	.	.	.	.	T	0.42921	0.1224	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27938	-1.0059	4	.	.	.	-15.3969	3.3917	0.07291	0.1258:0.2869:0.3896:0.1976	.	.	.	.	R	58	.	.	G	+	1	0	ALKBH3	43879746	0.210000	0.23517	0.987000	0.45799	0.944000	0.59088	-0.501000	0.06398	0.085000	0.17107	-0.119000	0.15052	GGA		PASS	0.493	ALKBH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389693.1	NM_139178		28	47	28	47	---	---	---	---
OR4S2	219431	broad.mit.edu	37	11	55418886	55418886	+	Silent	SNP	C	C	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr11:55418886C>T	ENST00000312422.2	+	1	507	c.507C>T	c.(505-507)ccC>ccT	p.P169P		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P169P(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTTGTGGACCCAATGAGATAG	0.443																																						uc001nhs.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(505-507)CCC>CCT		olfactory receptor, family 4, subfamily S,							241.0	186.0	205.0					11																	55418886		2179	4048	6227	SO:0001819	synonymous_variant	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418886C>T	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.507C>T	11.37:g.55418886C>T							p.P169P	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			1	507	+		all_epithelial(135;0.0748)	169			Extracellular (Potential).		Q6IF72	Silent	SNP	ENST00000312422.2	37	c.507C>T	CCDS31505.1																																																																																				PASS	0.443	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		51	72	51	72	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62301162	62301162	+	Nonsense_Mutation	SNP	T	T	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr11:62301162T>A	ENST00000378024.4	-	5	1001	c.727A>T	c.(727-729)Aag>Tag	p.K243*	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	243					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.K243*(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACCTGGAGCTTCGAGTGGCCA	0.607																																						uc001ntl.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(727-729)AAG>TAG		AHNAK nucleoprotein isoform 1							79.0	76.0	77.0					11																	62301162		2202	4299	6501	SO:0001587	stop_gained	79026				nervous system development	nucleus	protein binding	g.chr11:62301162T>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.727A>T	11.37:g.62301162T>A	ENSP00000367263:p.Lys243*					AHNAK_uc001ntk.1_Intron	p.K243*	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	1027	-		Melanoma(852;0.155)	243					A1A586	Nonsense_Mutation	SNP	ENST00000378024.4	37	c.727A>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	T	36	5.642073	0.96704	.	.	ENSG00000124942	ENST00000378024	.	.	.	5.85	4.71	0.59529	.	0.000000	0.39210	U	0.001431	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-7.5135	4.7297	0.12959	0.0:0.153:0.2166:0.6305	.	.	.	.	X	243	.	ENSP00000367263:K243X	K	-	1	0	AHNAK	62057738	0.040000	0.19996	0.467000	0.27180	0.786000	0.44442	0.285000	0.18883	0.986000	0.38683	0.533000	0.62120	AAG		PASS	0.607	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		14	49	14	49	---	---	---	---
PCNXL3	399909	broad.mit.edu	37	11	65402891	65402891	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr11:65402891G>A	ENST00000355703.3	+	31	5695	c.5156G>A	c.(5155-5157)cGg>cAg	p.R1719Q	MIR4690_ENST00000578459.1_RNA|SIPA1_ENST00000534313.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1719						integral component of membrane (GO:0016021)		p.R1719Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						ATGCTCAACCGGCGCCACCTC	0.667																																						uc001oey.2																			1	Substitution - Missense(1)		lung(1)		0						c.(5155-5157)CGG>CAG		pecanex-like 3							21.0	22.0	22.0					11																	65402891		2046	4191	6237	SO:0001583	missense	399909					integral to membrane		g.chr11:65402891G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5156G>A	11.37:g.65402891G>A	ENSP00000347931:p.Arg1719Gln					PCNXL3_uc001oez.2_Missense_Mutation_p.R606Q	p.R1719Q	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			31	5156	+			1719					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.5156G>A	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178243	0.78564	.	.	ENSG00000197136	ENST00000355703	T	0.47177	0.85	4.11	4.11	0.48088	.	0.074965	0.53938	D	0.000060	T	0.44435	0.1293	L	0.38175	1.15	0.26490	N	0.974968	P;D	0.57899	0.952;0.981	P;P	0.51999	0.687;0.625	T	0.31861	-0.9928	10	0.46703	T	0.11	.	7.6633	0.28415	0.1137:0.0:0.8863:0.0	.	606;1719	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	Q	1719	ENSP00000347931:R1719Q	ENSP00000347931:R1719Q	R	+	2	0	PCNXL3	65159467	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.775000	0.62346	2.142000	0.66516	0.462000	0.41574	CGG		PASS	0.667	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		6	13	6	13	---	---	---	---
GDPD5	81544	broad.mit.edu	37	11	75160079	75160079	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr11:75160079C>A	ENST00000336898.3	-	9	1494	c.657G>T	c.(655-657)atG>atT	p.M219I	GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533784.1_Missense_Mutation_p.M100I|GDPD5_ENST00000529721.1_Missense_Mutation_p.M219I|GDPD5_ENST00000526177.1_Missense_Mutation_p.M81I|GDPD5_ENST00000376282.3_Missense_Mutation_p.M100I|GDPD5_ENST00000533805.1_5'UTR	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	219					cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)	p.M219I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						CTTTCTTCTCCATGATGCAGG	0.617																																						uc001owo.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(655-657)ATG>ATT		glycerophosphodiester phosphodiesterase domain							88.0	82.0	84.0					11																	75160079		2200	4293	6493	SO:0001583	missense	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75160079C>A	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.657G>T	11.37:g.75160079C>A	ENSP00000337972:p.Met219Ile					GDPD5_uc001owp.3_Missense_Mutation_p.M219I|GDPD5_uc001own.3_5'UTR|GDPD5_uc009yuc.2_Missense_Mutation_p.M81I|GDPD5_uc009yud.2_Missense_Mutation_p.M100I|GDPD5_uc009yue.1_Missense_Mutation_p.M107I	p.M219I	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN			10	1194	-			219			Extracellular (Potential).		Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	ENST00000336898.3	37	c.657G>T	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659508	0.67586	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000376282	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	5.27	5.27	0.74061	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.115545	0.85682	D	0.000000	T	0.19927	0.0479	L	0.57536	1.79	0.80722	D	1	P;P;B	0.43578	0.532;0.811;0.397	B;B;B	0.43623	0.264;0.425;0.135	T	0.00536	-1.1683	10	0.38643	T	0.18	-43.6102	16.4369	0.83878	0.0:1.0:0.0:0.0	.	81;100;219	Q8WTR4-3;Q8WTR4-2;Q8WTR4	.;.;GDPD5_HUMAN	I	81;100;219;219;100	ENSP00000434050:M81I;ENSP00000437049:M100I;ENSP00000433214:M219I;ENSP00000337972:M219I;ENSP00000365459:M100I	ENSP00000337972:M219I	M	-	3	0	GDPD5	74837727	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.987000	0.76206	2.758000	0.94735	0.561000	0.74099	ATG		PASS	0.617	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		5	8	5	8	---	---	---	---
MED17	9440	broad.mit.edu	37	11	93528152	93528152	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr11:93528152G>A	ENST00000251871.3	+	6	1225	c.938G>A	c.(937-939)cGg>cAg	p.R313Q	MED17_ENST00000533367.1_Intron|snoU13_ENST00000459243.1_RNA	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	313					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R313Q(1)		large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAGCTCTCTCGGGAAGCTGTT	0.403																																						uc001pem.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(937-939)CGG>CAG		mediator complex subunit 17							95.0	98.0	97.0					11																	93528152		2201	4298	6499	SO:0001583	missense	9440				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr11:93528152G>A	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.938G>A	11.37:g.93528152G>A	ENSP00000251871:p.Arg313Gln						p.R313Q	NM_004268	NP_004259	Q9NVC6	MED17_HUMAN			6	1213	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	313					B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	ENST00000251871.3	37	c.938G>A	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541494	0.85917	.	.	ENSG00000042429	ENST00000251871;ENST00000427225	T	0.58940	0.3	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.55862	0.1947	L	0.48986	1.54	0.80722	D	1	P	0.49307	0.922	B	0.40782	0.34	T	0.60084	-0.7332	10	0.49607	T	0.09	-17.8688	19.5521	0.95324	0.0:0.0:1.0:0.0	.	313	Q9NVC6	MED17_HUMAN	Q	313;283	ENSP00000251871:R313Q	ENSP00000251871:R313Q	R	+	2	0	MED17	93167800	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.675000	0.98638	2.639000	0.89480	0.655000	0.94253	CGG		PASS	0.403	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268		8	57	8	57	---	---	---	---
NXPE4	54827	broad.mit.edu	37	11	114465423	114465423	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr11:114465423G>T	ENST00000375478.3	-	2	239	c.59C>A	c.(58-60)tCc>tAc	p.S20Y	NXPE4_ENST00000424261.2_5'UTR	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	20						extracellular vesicular exosome (GO:0070062)		p.S20Y(1)									AATGATCCAGGAGGCTAATAT	0.318																																						uc001ppc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(58-60)TCC>TAC		hypothetical protein LOC54827 isoform 1							127.0	123.0	124.0					11																	114465423		1819	4069	5888	SO:0001583	missense	54827					extracellular region		g.chr11:114465423G>T	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.59C>A	11.37:g.114465423G>T	ENSP00000364627:p.Ser20Tyr					FAM55D_uc001ppd.2_5'UTR	p.S20Y	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)	2	240	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	20					Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.59C>A	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.489023	0.01018	.	.	ENSG00000137634	ENST00000375478	T	0.12361	2.69	4.82	-1.2	0.09554	.	1.290250	0.05389	N	0.538732	T	0.09555	0.0235	L	0.40543	1.245	0.09310	N	1	B	0.29212	0.237	B	0.24541	0.054	T	0.33497	-0.9866	10	0.06365	T	0.9	.	8.1885	0.31354	0.6005:0.0:0.3995:0.0	.	20	Q6UWF7	FA55D_HUMAN	Y	20	ENSP00000364627:S20Y	ENSP00000364627:S20Y	S	-	2	0	FAM55D	113970633	0.523000	0.26274	0.039000	0.18376	0.037000	0.13140	1.176000	0.31957	-0.083000	0.12618	-0.136000	0.14681	TCC		PASS	0.318	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		20	46	20	46	---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117335863	117335863	+	Silent	SNP	C	C	G			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr11:117335863C>G	ENST00000321322.6	-	17	3241	c.3240G>C	c.(3238-3240)cgG>cgC	p.R1080R	DSCAML1_ENST00000527706.1_Silent_p.R810R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1020	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.R1080R(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCTGGTAGCCCCGGATGACAC	0.587																																						uc001prh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(3238-3240)CGG>CGC		Down syndrome cell adhesion molecule like 1							93.0	80.0	84.0					11																	117335863		2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117335863C>G		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3240G>C	11.37:g.117335863C>G							p.R1080R	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	17	3242	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1020			Extracellular (Potential).|Fibronectin type-III 2.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.3240G>C	CCDS8384.1																																																																																				PASS	0.587	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		7	38	7	38	---	---	---	---
OR4D5	219875	broad.mit.edu	37	11	123810699	123810699	+	Missense_Mutation	SNP	A	A	G			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr11:123810699A>G	ENST00000307033.2	+	1	450	c.376A>G	c.(376-378)Att>Gtt	p.I126V		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I126V(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTACATTGCCATTTCCCAGCC	0.512																																						uc001pzk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(376-378)ATT>GTT		olfactory receptor, family 4, subfamily D,							132.0	111.0	118.0					11																	123810699		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810699A>G	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.376A>G	11.37:g.123810699A>G	ENSP00000305970:p.Ile126Val						p.I126V	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	376	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	126			Cytoplasmic (Potential).		B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.376A>G	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.005105	0.54254	.	.	ENSG00000171014	ENST00000307033	T	0.50813	0.73	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000158	T	0.64746	0.2626	M	0.68728	2.09	0.34982	D	0.754152	D	0.55800	0.973	P	0.61722	0.893	T	0.76634	-0.2887	10	0.87932	D	0	-14.678	15.2581	0.73601	1.0:0.0:0.0:0.0	.	126	Q8NGN0	OR4D5_HUMAN	V	126	ENSP00000305970:I126V	ENSP00000305970:I126V	I	+	1	0	OR4D5	123315909	1.000000	0.71417	0.999000	0.59377	0.353000	0.29299	6.067000	0.71193	2.082000	0.62665	0.533000	0.62120	ATT		PASS	0.512	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		29	38	29	38	---	---	---	---
DCP1B	196513	broad.mit.edu	37	12	2055431	2055431	+	Missense_Mutation	SNP	T	T	C			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr12:2055431T>C	ENST00000280665.6	-	9	1874	c.1795A>G	c.(1795-1797)Ata>Gta	p.I599V	DCP1B_ENST00000397173.4_Missense_Mutation_p.I497V	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	599					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.I599V(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			TCATAGATTATATTTAAGAAG	0.388																																						uc001qjx.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1795-1797)ATA>GTA		decapping enzyme Dcp1b							82.0	79.0	80.0					12																	2055431		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2055431T>C	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.1795A>G	12.37:g.2055431T>C	ENSP00000280665:p.Ile599Val					DCP1B_uc010sdy.1_Missense_Mutation_p.I497V	p.I599V	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		9	1875	-			599					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.1795A>G	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	T	15.00	2.704022	0.48412	.	.	ENSG00000151065	ENST00000280665;ENST00000397173	T;T	0.18810	2.2;2.19	5.39	5.39	0.77823	.	0.161441	0.56097	D	0.000037	T	0.36552	0.0971	M	0.63428	1.95	0.35160	D	0.770539	D;P	0.54207	0.965;0.944	P;B	0.57911	0.829;0.437	T	0.43669	-0.9377	10	0.26408	T	0.33	-12.1564	13.2779	0.60198	0.0:0.0:0.0:1.0	.	497;599	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	V	599;497	ENSP00000280665:I599V;ENSP00000380358:I497V	ENSP00000280665:I599V	I	-	1	0	DCP1B	1925692	1.000000	0.71417	0.930000	0.37139	0.994000	0.84299	5.254000	0.65457	2.266000	0.75297	0.533000	0.62120	ATA		PASS	0.388	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		32	7	32	7	---	---	---	---
TMEM52B	120939	broad.mit.edu	37	12	10337966	10337966	+	Splice_Site	SNP	T	T	C			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr12:10337966T>C	ENST00000381923.2	+	4	540	c.136T>C	c.(136-138)Tgg>Cgg	p.W46R	TMEM52B_ENST00000536952.1_Splice_Site_p.W46R|TMEM52B_ENST00000298530.3_Splice_Site_p.W26R			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	46						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.W26R(1)									CTGGTATATATGGTAAGTTTC	0.348																																						uc001qxr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(136-138)TGG>CGG		RecName: Full=Uncharacterized protein C12orf59; Flags: Precursor;							97.0	95.0	96.0					12																	10337966		2203	4300	6503	SO:0001630	splice_region_variant	120939					integral to membrane		g.chr12:10337966T>C	AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 59"""	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.137+1T>C	12.37:g.10337966T>C						C12orf59_uc001qxq.2_Missense_Mutation_p.W26R	p.W46R			Q4KMG9	CL059_HUMAN			3	753	+			46			Helical; (Potential).		Q96NA7	Missense_Mutation	SNP	ENST00000381923.2	37	c.136T>C		.	.	.	.	.	.	.	.	.	.	T	18.46	3.628219	0.66901	.	.	ENSG00000165685	ENST00000381923;ENST00000298530;ENST00000543484;ENST00000536952	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000001	T	0.57504	0.2058	M	0.72894	2.215	0.43489	D	0.995728	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.61426	-0.7065	10	0.87932	D	0	-12.509	11.4711	0.50268	0.0:0.0:0.0:1.0	.	46;26	Q4KMG9;Q4KMG9-2	CL059_HUMAN;.	R	46;26;46;46	ENSP00000371348:W46R;ENSP00000298530:W26R;ENSP00000445582:W46R;ENSP00000446102:W46R	ENSP00000298530:W26R	W	+	1	0	C12orf59	10229233	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.389000	0.59639	2.202000	0.70862	0.529000	0.55759	TGG		PASS	0.348	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000399645.1	NM_153022	Missense_Mutation	16	78	16	78	---	---	---	---
ETV6	2120	broad.mit.edu	37	12	12022436	12022436	+	Missense_Mutation	SNP	G	G	T	rs150089916		TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr12:12022436G>T	ENST00000396373.4	+	5	816	c.542G>T	c.(541-543)cGc>cTc	p.R181L		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	181					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II 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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R181L(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CTGTTGCACCGCTCCAGGTCA	0.607			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	uc001qzz.2				Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"""L, E, M"""	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5		congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL	ETV6/NTRK3(234)|ETV6/JAK2(11)	1	Substitution - Missense(1)		lung(1)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250						c.(541-543)CGC>CTC		ets variant 6							180.0	189.0	186.0					12																	12022436		2203	4300	6503	SO:0001583	missense	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12022436G>T	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.542G>T	12.37:g.12022436G>T	ENSP00000379658:p.Arg181Leu					ETV6_uc001raa.1_5'UTR	p.R181L	NM_001987	NP_001978	P41212	ETV6_HUMAN			5	816	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	181					A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	c.542G>T	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368349	0.82463	.	.	ENSG00000139083	ENST00000396373	T	0.04083	3.71	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.07999	0.0200	M	0.66939	2.045	0.80722	D	1	P	0.44690	0.841	B	0.36134	0.218	T	0.35001	-0.9806	10	0.27785	T	0.31	.	18.7466	0.91795	0.0:0.0:1.0:0.0	.	181	P41212	ETV6_HUMAN	L	181	ENSP00000379658:R181L	ENSP00000379658:R181L	R	+	2	0	ETV6	11913703	1.000000	0.71417	0.951000	0.38953	0.698000	0.40448	6.697000	0.74603	2.514000	0.84764	0.655000	0.94253	CGC		PASS	0.607	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		52	284	52	284	---	---	---	---
SLCO1B1	10599	broad.mit.edu	37	12	21331930	21331930	+	Missense_Mutation	SNP	G	G	T	rs147421160		TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr12:21331930G>T	ENST00000256958.2	+	7	799	c.703G>T	c.(703-705)Gtg>Ttg	p.V235L		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	235					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.V235M(1)|p.V235L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TAAAATGTACGTGGATATTGG	0.328																																						uc001req.3																			2	Substitution - Missense(2)		lung(1)|kidney(1)	ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(703-705)GTG>TTG		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						110.0	110.0	110.0					12																	21331930		2203	4297	6500	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21331930G>T		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.703G>T	12.37:g.21331930G>T	ENSP00000256958:p.Val235Leu						p.V235L	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			7	807	+			235			Helical; Name=5; (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.703G>T	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995180	0.74703	.	.	ENSG00000134538	ENST00000256958	T	0.44482	0.92	3.76	3.76	0.43208	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.059223	0.64402	D	0.000002	T	0.73410	0.3583	H	0.94542	3.55	0.54753	D	0.999982	D	0.89917	1.0	D	0.87578	0.998	T	0.83131	-0.0113	10	0.72032	D	0.01	.	16.1164	0.81306	0.0:0.0:1.0:0.0	.	235	Q9Y6L6	SO1B1_HUMAN	L	235	ENSP00000256958:V235L	ENSP00000256958:V235L	V	+	1	0	SLCO1B1	21223197	1.000000	0.71417	0.925000	0.36789	0.709000	0.40893	9.046000	0.93817	2.096000	0.63516	0.305000	0.20034	GTG		PASS	0.328	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		76	58	76	58	---	---	---	---
KIF21A	55605	broad.mit.edu	37	12	39751147	39751147	+	Silent	SNP	A	A	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr12:39751147A>T	ENST00000361418.5	-	9	1323	c.1308T>A	c.(1306-1308)cgT>cgA	p.R436R	KIF21A_ENST00000361961.3_Silent_p.R436R|KIF21A_ENST00000544797.2_Silent_p.R436R|KIF21A_ENST00000395670.3_Silent_p.R436R|KIF21A_ENST00000541463.2_Silent_p.R436R			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	436					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R436R(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TAATTCTTACACGCAGGTTAT	0.408																																						uc001rly.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(1306-1308)CGT>CGA		kinesin family member 21A							160.0	148.0	152.0					12																	39751147		2203	4300	6503	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39751147A>T	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1308T>A	12.37:g.39751147A>T						KIF21A_uc001rlx.2_Silent_p.R436R|KIF21A_uc001rlz.2_Silent_p.R436R|KIF21A_uc010skl.1_Silent_p.R436R|KIF21A_uc001rma.1_Silent_p.R444R	p.R436R	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			9	1454	-		Lung NSC(34;0.179)|all_lung(34;0.213)	436			Potential.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.1308T>A	CCDS53776.1																																																																																				PASS	0.408	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		14	147	14	147	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43824220	43824220	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr12:43824220C>A	ENST00000389420.3	-	23	3315	c.3316G>T	c.(3316-3318)Gag>Tag	p.E1106*	ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.E1106*|ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.E260*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1106	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E1106*(1)|p.A1106S(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTAGCTAGCTCATTGACACAT	0.383																																						uc010skx.1																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(3316-3318)GAG>TAG		a disintegrin-like and metalloprotease with							154.0	132.0	139.0					12																	43824220		2203	4300	6503	SO:0001587	stop_gained	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43824220C>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3316G>T	12.37:g.43824220C>A	ENSP00000374071:p.Glu1106*					ADAMTS20_uc001rno.1_Nonsense_Mutation_p.E260*|ADAMTS20_uc001rnp.1_Nonsense_Mutation_p.E260*	p.E1106*	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	23	3316	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1106			TSP type-1 6.		A6NNC9|J3QT00	Nonsense_Mutation	SNP	ENST00000389420.3	37	c.3316G>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	c	40	8.214678	0.98709	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	.	.	.	5.3	5.3	0.74995	.	0.553881	0.16200	N	0.224952	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	19.8594	0.96778	0.0:1.0:0.0:0.0	.	.	.	.	X	1106;272;260;1106;1106	.	ENSP00000374068:E1106X	E	-	1	0	ADAMTS20	42110487	0.998000	0.40836	0.508000	0.27688	0.098000	0.18820	5.529000	0.67135	2.869000	0.98440	0.556000	0.70494	GAG		PASS	0.383	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		63	36	63	36	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49431879	49431879	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr12:49431879C>A	ENST00000301067.7	-	34	9259	c.9260G>T	c.(9259-9261)cGg>cTg	p.R3087L	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3087					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R3087L(1)|p.R2817L(1)									CTCCACCCCCCGCAGCAGGGC	0.627																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(9259-9261)CGG>CTG		myeloid/lymphoid or mixed-lineage leukemia 2							42.0	41.0	41.0					12																	49431879		1950	4142	6092	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49431879C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.9260G>T	12.37:g.49431879C>A	ENSP00000301067:p.Arg3087Leu	HNSCC(34;0.089)					p.R3087L	NM_003482	NP_003473	O14686	MLL2_HUMAN			34	9260	-			3087					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.9260G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	4.768	0.142803	0.09083	.	.	ENSG00000167548	ENST00000301067	T	0.80566	-1.39	5.2	3.17	0.36434	.	0.224190	0.23021	N	0.052843	T	0.62245	0.2412	N	0.14661	0.345	0.24718	N	0.993164	B	0.20887	0.049	B	0.17433	0.018	T	0.55283	-0.8165	10	0.87932	D	0	.	4.7041	0.12841	0.1485:0.5887:0.0:0.2628	.	3087	O14686	MLL2_HUMAN	L	3087	ENSP00000301067:R3087L	ENSP00000301067:R3087L	R	-	2	0	MLL2	47718146	0.987000	0.35691	0.998000	0.56505	0.476000	0.33039	1.114000	0.31196	0.564000	0.29238	-0.137000	0.14449	CGG		PASS	0.627	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			15	15	15	15	---	---	---	---
KRT81	3887	broad.mit.edu	37	12	52681085	52681085	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr12:52681085C>A	ENST00000327741.5	-	7	1116	c.1048G>T	c.(1048-1050)Gtg>Ttg	p.V350L	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	350	Coil 2.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.V350L(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GACTGGGCCACCGCGGCCTCC	0.607																																						uc001sab.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1048-1050)GTG>TTG		keratin, hair, basic, 1							26.0	29.0	28.0					12																	52681085		2203	4300	6503	SO:0001583	missense	3887					keratin filament	protein binding|structural molecule activity	g.chr12:52681085C>A	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.1048G>T	12.37:g.52681085C>A	ENSP00000369349:p.Val350Leu					KRT86_uc010snq.1_Intron|KRT86_uc009zmg.2_Intron|KRT81_uc001sac.2_5'UTR	p.V350L	NM_002281	NP_002272	Q14533	KRT81_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1098	-			350			Rod.|Coil 2.		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Missense_Mutation	SNP	ENST00000327741.5	37	c.1048G>T	CCDS31805.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714119	0.48622	.	.	ENSG00000205426	ENST00000327741;ENST00000389388	D	0.87491	-2.26	4.99	4.99	0.66335	Filament (1);	0.000000	0.37669	U	0.001993	T	0.78698	0.4324	N	0.21583	0.68	0.37093	D	0.899528	B	0.31730	0.337	B	0.33690	0.168	T	0.81232	-0.1026	10	0.72032	D	0.01	.	8.8868	0.35409	0.0:0.8247:0.0:0.1753	.	350	Q14533	KRT81_HUMAN	L	350	ENSP00000369349:V350L	ENSP00000369349:V350L	V	-	1	0	KRT81	50967352	0.587000	0.26791	0.703000	0.30354	0.205000	0.24178	1.081000	0.30791	2.303000	0.77524	0.561000	0.74099	GTG		PASS	0.607	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		5	17	5	17	---	---	---	---
CSAD	51380	broad.mit.edu	37	12	53565181	53565181	+	Nonsense_Mutation	SNP	G	G	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr12:53565181G>A	ENST00000444623.1	-	8	763	c.496C>T	c.(496-498)Cag>Tag	p.Q166*	CSAD_ENST00000379843.3_Intron|CSAD_ENST00000491654.1_5'Flank|CSAD_ENST00000542115.1_3'UTR|CSAD_ENST00000453446.2_Nonsense_Mutation_p.Q166*|CSAD_ENST00000379846.1_Intron|CSAD_ENST00000267085.4_Nonsense_Mutation_p.Q193*	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	166					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)	p.Q166*(1)|p.Q193*(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	GGGTAGCGCTGATAGCGGGCC	0.622																																					Ovarian(109;252 1546 16882 28524 44645)	uc001sby.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(496-498)CAG>TAG		cysteine sulfinic acid decarboxylase	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						63.0	61.0	62.0					12																	53565181		2203	4300	6503	SO:0001587	stop_gained	51380	Hereditary_Prostate_Cancer			carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity	g.chr12:53565181G>A	AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"""P-selectin cytoplasmic tail-associated protein"""					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.496C>T	12.37:g.53565181G>A	ENSP00000415485:p.Gln166*					CSAD_uc001sbw.2_Intron|CSAD_uc009zmt.2_Intron|CSAD_uc010snx.1_Nonsense_Mutation_p.Q193*|CSAD_uc001sbz.2_Nonsense_Mutation_p.Q166*|CSAD_uc009zmu.2_Intron|CSAD_uc001sca.3_RNA|CSAD_uc010sny.1_3'UTR	p.Q166*	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN			7	622	-			166					A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Nonsense_Mutation	SNP	ENST00000444623.1	37	c.496C>T	CCDS58235.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	5.994122|5.994122	0.97184|0.97184	.|.	.|.	ENSG00000139631|ENSG00000139631	ENST00000308926;ENST00000267085;ENST00000544139;ENST00000444623;ENST00000453446;ENST00000454442|ENST00000379850	.|.	.|.	.|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.235420|.	0.44688|.	D|.	0.000437|.	.|T	.|0.74489	.|0.3723	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72766	.|-0.4194	.|4	0.02654|.	T|.	1|.	-20.7901|-20.7901	18.2528|18.2528	0.90009|0.90009	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	255;193;166;166;166;60|191	.|.	ENSP00000267085:Q193X|.	Q|S	-|-	1|2	0|0	CSAD|CSAD	51851448|51851448	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.716000|3.716000	0.54904|0.54904	2.682000|2.682000	0.91365|0.91365	0.655000|0.655000	0.94253|0.94253	CAG|TCA		PASS	0.622	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989		20	17	20	17	---	---	---	---
OR6C6	283365	broad.mit.edu	37	12	55688725	55688725	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr12:55688725G>T	ENST00000358433.2	-	1	291	c.292C>A	c.(292-294)Caa>Aaa	p.Q98K		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q98K(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAAAATAATTGAGTTGCACAA	0.383																																						uc010sph.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(292-294)CAA>AAA		olfactory receptor, family 6, subfamily C,							41.0	44.0	43.0					12																	55688725		2203	4300	6503	SO:0001583	missense	283365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55688725G>T		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.292C>A	12.37:g.55688725G>T	ENSP00000351211:p.Gln98Lys						p.Q98K	NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN			1	292	-			98			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000358433.2	37	c.292C>A	CCDS31817.1	.	.	.	.	.	.	.	.	.	.	-	16.49	3.138725	0.56936	.	.	ENSG00000188324	ENST00000358433	T	0.02085	4.46	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000436	T	0.13543	0.0328	H	0.98133	4.155	0.48830	D	0.999716	P	0.50943	0.94	P	0.46208	0.507	T	0.39860	-0.9593	10	0.87932	D	0	.	16.7963	0.85603	0.0:0.0:1.0:0.0	.	98	A6NF89	OR6C6_HUMAN	K	98	ENSP00000351211:Q98K	ENSP00000351211:Q98K	Q	-	1	0	OR6C6	53974992	1.000000	0.71417	0.860000	0.33809	0.219000	0.24729	7.105000	0.77031	2.359000	0.80004	0.580000	0.79431	CAA		PASS	0.383	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1			14	27	14	27	---	---	---	---
PIP4K2C	79837	broad.mit.edu	37	12	57994176	57994176	+	Missense_Mutation	SNP	G	G	A	rs370140414		TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr12:57994176G>A	ENST00000354947.5	+	7	785	c.769G>A	c.(769-771)Gag>Aag	p.E257K	PIP4K2C_ENST00000540759.2_Missense_Mutation_p.E257K|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.E239K|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.E209K			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	257	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)	p.E257K(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					TATTGGTGAAGAGGAGAAGAA	0.413																																						uc001sou.2																			2	Substitution - Missense(2)		lung(1)|pancreas(1)	central_nervous_system(2)|lung(1)	3						c.(769-771)GAG>AAG		phosphatidylinositol-5-phosphate 4-kinase, type		G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	98.0	93.0	95.0		769,715,625,769	4.8	1.0	12		95	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	PIP4K2C	NM_001146258.1,NM_001146259.1,NM_001146260.1,NM_024779.4	56,56,56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	257/422,239/404,209/374,257/422	57994176	1,13005	2203	4300	6503	SO:0001583	missense	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57994176G>A	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.769G>A	12.37:g.57994176G>A	ENSP00000347032:p.Glu257Lys					PIP4K2C_uc001sot.2_Missense_Mutation_p.E257K|PIP4K2C_uc010srs.1_Missense_Mutation_p.E239K|PIP4K2C_uc010srt.1_Missense_Mutation_p.E209K	p.E257K	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN			7	900	+	Melanoma(17;0.122)		257			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Missense_Mutation	SNP	ENST00000354947.5	37	c.769G>A	CCDS8946.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351625	0.82132	0.0	1.16E-4	ENSG00000166908	ENST00000422156;ENST00000540759;ENST00000550465;ENST00000354947	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	4.78	4.78	0.61160	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.055640	0.64402	D	0.000002	T	0.40423	0.1116	L	0.49350	1.555	0.80722	D	1	B;B;B	0.34226	0.261;0.238;0.443	B;B;B	0.39465	0.3;0.223;0.3	T	0.37731	-0.9693	10	0.52906	T	0.07	-17.8217	16.9765	0.86314	0.0:0.0:1.0:0.0	.	209;239;257	B4DM11;B4DY44;Q8TBX8	.;.;PI42C_HUMAN	K	209;257;239;257	ENSP00000412035:E209K;ENSP00000439878:E257K;ENSP00000447390:E239K;ENSP00000347032:E257K	ENSP00000347032:E257K	E	+	1	0	PIP4K2C	56280443	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	9.383000	0.97214	2.373000	0.80994	0.555000	0.69702	GAG		PASS	0.413	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		20	26	20	26	---	---	---	---
RFX4	5992	broad.mit.edu	37	12	107155033	107155033	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr12:107155033G>T	ENST00000392842.1	+	18	2408	c.1994G>T	c.(1993-1995)aGa>aTa	p.R665I	RFX4_ENST00000229387.5_Missense_Mutation_p.R571I|RFX4_ENST00000357881.4_Missense_Mutation_p.R674I|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	665					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R674I(1)|p.R665I(1)|p.R571I(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						AGTACTCCCAGACTGCATCCT	0.512																																						uc001tlr.2																			3	Substitution - Missense(3)		lung(3)	upper_aerodigestive_tract(1)	1						c.(1993-1995)AGA>ATA		regulatory factor X4 isoform c							149.0	151.0	150.0					12																	107155033		2203	4300	6503	SO:0001583	missense	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107155033G>T	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.1994G>T	12.37:g.107155033G>T	ENSP00000376585:p.Arg665Ile					RFX4_uc001tlt.2_Missense_Mutation_p.R674I|RFX4_uc001tlv.2_Missense_Mutation_p.R571I	p.R665I	NM_213594	NP_998759	Q33E94	RFX4_HUMAN			18	2060	+			665					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	c.1994G>T	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642674	0.47153	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000229387	T;T;T	0.68331	-0.31;-0.32;0.65	5.55	5.55	0.83447	.	0.095877	0.64402	D	0.000001	T	0.52058	0.1711	N	0.19112	0.55	0.80722	D	1	P;B;B	0.38078	0.617;0.253;0.099	B;B;B	0.28011	0.085;0.036;0.011	T	0.59989	-0.7350	10	0.72032	D	0.01	-17.7546	19.4985	0.95083	0.0:0.0:1.0:0.0	.	571;674;665	B2RDW4;Q33E94-2;Q33E94	.;.;RFX4_HUMAN	I	665;674;571	ENSP00000376585:R665I;ENSP00000350552:R674I;ENSP00000229387:R571I	ENSP00000229387:R571I	R	+	2	0	RFX4	105679163	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.462000	0.80851	2.602000	0.87976	0.655000	0.94253	AGA		PASS	0.512	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		43	100	43	100	---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120802555	120802555	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr12:120802555C>T	ENST00000257552.2	-	5	359	c.271G>A	c.(271-273)Gac>Aac	p.D91N		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	91	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)	p.D91N(1)		breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCTTAGGGTCAATCTACAAG	0.537																																						uc001tye.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|breast(1)	3						c.(271-273)GAC>AAC		musashi 1							171.0	172.0	172.0					12																	120802555		2203	4300	6503	SO:0001583	missense	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120802555C>T	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.271G>A	12.37:g.120802555C>T	ENSP00000257552:p.Asp91Asn						p.D91N	NM_002442	NP_002433	O43347	MSI1H_HUMAN			5	335	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		91			RRM 1.		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Missense_Mutation	SNP	ENST00000257552.2	37	c.271G>A	CCDS9196.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034846	0.93575	.	.	ENSG00000135097	ENST00000257552	D	0.85861	-2.04	5.26	5.26	0.73747	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	D	0.92061	0.7484	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92815	0.6267	10	0.87932	D	0	.	18.4997	0.90877	0.0:1.0:0.0:0.0	.	91	O43347	MSI1H_HUMAN	N	91	ENSP00000257552:D91N	ENSP00000257552:D91N	D	-	1	0	MSI1	119286938	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.398000	0.79919	2.462000	0.83206	0.455000	0.32223	GAC		PASS	0.537	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		31	84	31	84	---	---	---	---
WDR66	144406	broad.mit.edu	37	12	122413496	122413496	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr12:122413496G>A	ENST00000288912.4	+	19	3765	c.2911G>A	c.(2911-2913)Gac>Aac	p.D971N		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	971							calcium ion binding (GO:0005509)	p.D971N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TCAAGGCATCGACACAATGGA	0.443																																					Esophageal Squamous(85;849 1794 49757 52143)	uc009zxk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2911-2913)GAC>AAC		WD repeat domain 66							117.0	107.0	110.0					12																	122413496		1942	4139	6081	SO:0001583	missense	144406						calcium ion binding	g.chr12:122413496G>A	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2911G>A	12.37:g.122413496G>A	ENSP00000288912:p.Asp971Asn						p.D971N	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	19	3053	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		971					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.2911G>A	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	8.610	0.888829	0.17540	.	.	ENSG00000158023	ENST00000288912	T	0.05382	3.45	5.05	5.05	0.67936	.	0.113604	0.64402	D	0.000019	T	0.06188	0.0160	L	0.46157	1.445	0.80722	D	1	P	0.37612	0.602	B	0.28553	0.091	T	0.28650	-1.0037	10	0.45353	T	0.12	.	11.4766	0.50302	0.1319:0.0:0.8681:0.0	.	971	Q8TBY9	WDR66_HUMAN	N	971	ENSP00000288912:D971N	ENSP00000288912:D971N	D	+	1	0	WDR66	120897879	1.000000	0.71417	0.246000	0.24233	0.078000	0.17371	4.166000	0.58203	2.341000	0.79615	0.561000	0.74099	GAC		PASS	0.443	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		5	38	5	38	---	---	---	---
GOLGA3	2802	broad.mit.edu	37	12	133398645	133398645	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr12:133398645G>T	ENST00000450791.2	-	1	253	c.70C>A	c.(70-72)Ccc>Acc	p.P24T	GOLGA3_ENST00000204726.3_Missense_Mutation_p.P24T|GOLGA3_ENST00000537452.1_Missense_Mutation_p.P24T|GOLGA3_ENST00000456883.2_Missense_Mutation_p.P24T|GOLGA3_ENST00000545875.1_Missense_Mutation_p.P24T			Q08378	GOGA3_HUMAN	golgin A3	24	Pro-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.P24T(2)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GGGGCCTCGGGGAGAGACGAG	0.647																																						uc001ukz.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(70-72)CCC>ACC		Golgi autoantigen, golgin subfamily a, 3							42.0	45.0	44.0					12																	133398645		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133398645G>T	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.70C>A	12.37:g.133398645G>T	ENSP00000410378:p.Pro24Thr					GOLGA3_uc001ula.1_Missense_Mutation_p.P24T|GOLGA3_uc001ulb.2_Missense_Mutation_p.P24T	p.P24T	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	2	629	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	24			Pro-rich.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.70C>A	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190432	0.38707	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.34472	1.81;1.81;1.8;1.36;1.36	5.6	-0.418	0.12344	.	0.547984	0.18355	N	0.143773	T	0.24851	0.0603	L	0.51422	1.61	0.09310	N	1	B;B;B	0.23249	0.058;0.082;0.082	B;B;B	0.28011	0.059;0.085;0.085	T	0.16364	-1.0405	10	0.32370	T	0.25	.	0.9352	0.01344	0.2369:0.3448:0.2439:0.1744	.	24;24;24	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	T	24	ENSP00000204726:P24T;ENSP00000410378:P24T;ENSP00000409303:P24T;ENSP00000442143:P24T;ENSP00000442603:P24T	ENSP00000204726:P24T	P	-	1	0	GOLGA3	131908718	0.009000	0.17119	0.000000	0.03702	0.005000	0.04900	0.417000	0.21214	0.018000	0.15052	0.561000	0.74099	CCC		PASS	0.647	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		18	34	18	34	---	---	---	---
NBEA	26960	broad.mit.edu	37	13	36026233	36026233	+	Silent	SNP	G	G	T	rs199826709	byFrequency	TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr13:36026233G>T	ENST00000400445.3	+	40	6843	c.6309G>T	c.(6307-6309)acG>acT	p.T2103T	NBEA_ENST00000379939.2_Silent_p.T2100T|NBEA_ENST00000310336.4_Silent_p.T2103T|NBEA_ENST00000540320.1_Silent_p.T2103T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2103					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.T2103T(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GATTAGGCACGGAAGAAGATG	0.313																																						uc001uvb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|large_intestine(2)	11						c.(6307-6309)ACG>ACT		neurobeachin							77.0	71.0	73.0					13																	36026233		1867	4091	5958	SO:0001819	synonymous_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36026233G>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6309G>T	13.37:g.36026233G>T						NBEA_uc010abi.2_Silent_p.T759T	p.T2103T	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	40	6515	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2103					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	c.6309G>T	CCDS45026.1																																																																																				PASS	0.313	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		28	21	28	21	---	---	---	---
COL4A1	1282	broad.mit.edu	37	13	110861758	110861758	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr13:110861758G>T	ENST00000375820.4	-	11	753	c.632C>A	c.(631-633)cCc>cAc	p.P211H	COL4A1_ENST00000543140.1_Missense_Mutation_p.P211H	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	211	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)	p.P211H(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGGAGGGCCGGGAGGGCCTGG	0.418																																						uc001vqw.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(631-633)CCC>CAC		alpha 1 type IV collagen preproprotein							62.0	76.0	71.0					13																	110861758		2202	4300	6502	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110861758G>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.632C>A	13.37:g.110861758G>T	ENSP00000364979:p.Pro211His					COL4A1_uc010agl.2_Missense_Mutation_p.P211H	p.P211H	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		11	754	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	211			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.632C>A	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592480	0.46214	.	.	ENSG00000187498	ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.93247	-3.19;-3.19	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.94414	0.8203	M	0.87097	2.86	0.80722	D	1	P;P	0.50272	0.933;0.668	P;B	0.45406	0.479;0.329	D	0.94853	0.8015	10	0.59425	D	0.04	.	13.7606	0.62963	0.0:0.0:0.8464:0.1536	.	211;211	F5H5K0;P02462	.;CO4A1_HUMAN	H	211	ENSP00000364979:P211H;ENSP00000443348:P211H	ENSP00000364979:P211H	P	-	2	0	COL4A1	109659759	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	4.537000	0.60643	2.438000	0.82558	0.643000	0.83706	CCC		PASS	0.418	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			4	36	4	36	---	---	---	---
RNASE1	6035	broad.mit.edu	37	14	21269781	21269781	+	Silent	SNP	A	A	G			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr14:21269781A>G	ENST00000397967.4	-	2	953	c.447T>C	c.(445-447)gaT>gaC	p.D149D	RNASE1_ENST00000340900.3_Silent_p.D149D|RNASE1_ENST00000555698.1_Silent_p.D109D|RNASE1_ENST00000412779.2_Silent_p.D149D|RNASE1_ENST00000397970.4_Silent_p.D149D	NM_002933.4	NP_002924.1	P07998	RNAS1_HUMAN	ribonuclease, RNase A family, 1 (pancreatic)	149					RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)	p.D149D(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5	all_cancers(95;0.00671)	all_lung(585;0.235)	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)	Guanidine(DB00536)|L-Aspartic Acid(DB00128)	CCACAGAAGCATCAAAGTGGA	0.572																																						uc001vyf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(445-447)GAT>GAC		pancreatic ribonuclease precursor							126.0	110.0	116.0					14																	21269781		2203	4300	6503	SO:0001819	synonymous_variant	6035					extracellular region	nucleic acid binding|pancreatic ribonuclease activity|protein binding	g.chr14:21269781A>G	BC005324	CCDS9559.1	14q11.2	2014-03-13			ENSG00000129538	ENSG00000129538	3.1.27.5	"""Ribonucleases, RNase A"""	10044	protein-coding gene	gene with protein product		180440		RNS1		8588814	Standard	NM_002933		Approved		uc001vyi.3	P07998	OTTHUMG00000029603	ENST00000397967.4:c.447T>C	14.37:g.21269781A>G						RNASE1_uc001vyg.2_Silent_p.D149D|RNASE1_uc001vyh.2_Silent_p.D149D|RNASE1_uc001vyi.2_Silent_p.D149D	p.D149D	NM_198232	NP_937875	P07998	RNAS1_HUMAN	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)	2	623	-	all_cancers(95;0.00671)	all_lung(585;0.235)	149					B2R589|D3DS06|Q16830|Q16869|Q1KHR2|Q6ICS5|Q9UCB4|Q9UCB5	Silent	SNP	ENST00000397967.4	37	c.447T>C	CCDS9559.1																																																																																				PASS	0.572	RNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073791.3			36	23	36	23	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52472511	52472511	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr14:52472511G>A	ENST00000216286.5	-	21	4060	c.4061C>T	c.(4060-4062)cCa>cTa	p.P1354L	NID2_ENST00000541773.1_Missense_Mutation_p.P1253L	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1354					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)	p.P1354L(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCGTTGTTCTGGGAGATACTC	0.428																																						uc001wzo.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(4060-4062)CCA>CTA		nidogen 2 precursor							135.0	120.0	125.0					14																	52472511		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52472511G>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.4061C>T	14.37:g.52472511G>A	ENSP00000216286:p.Pro1354Leu					NID2_uc010tqs.1_Missense_Mutation_p.P1306L|NID2_uc010tqt.1_Missense_Mutation_p.P1354L	p.P1354L	NM_007361	NP_031387	Q14112	NID2_HUMAN			21	4295	-	Breast(41;0.0639)|all_epithelial(31;0.123)		1354			LDL-receptor class B 5.		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.4061C>T	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	35	5.485606	0.96323	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773	T;T	0.25749	1.78;1.78	6.17	6.17	0.99709	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.989	T	0.11641	-1.0579	10	0.39692	T	0.17	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	948;1253;1354	E7EPP3;Q14112-2;Q14112	.;.;NID2_HUMAN	L	1354;948;1253	ENSP00000216286:P1354L;ENSP00000443730:P1253L	ENSP00000216286:P1354L	P	-	2	0	NID2	51542261	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	9.586000	0.98226	2.941000	0.99782	0.655000	0.94253	CCA		PASS	0.428	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			22	17	22	17	---	---	---	---
NRXN3	9369	broad.mit.edu	37	14	79423668	79423668	+	Missense_Mutation	SNP	A	A	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr14:79423668A>T	ENST00000554719.1	+	8	1731	c.1240A>T	c.(1240-1242)Agc>Tgc	p.S414C	NRXN3_ENST00000335750.5_Missense_Mutation_p.S414C	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	184					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.S414C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GAGAGGAAAAAGCCTTAAGTT	0.498																																						uc001xun.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(1240-1242)AGC>TGC		neurexin 3 isoform 1 precursor							298.0	259.0	272.0					14																	79423668		2203	4300	6503	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79423668A>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1240A>T	14.37:g.79423668A>T	ENSP00000451648:p.Ser414Cys					NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.S539C	p.S414C	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	8	1731	+		Renal(4;0.00876)	787			Laminin G-like 4.|Extracellular (Potential).		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.1240A>T	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.005722	0.93287	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.79033	-1.23;-1.23	5.64	5.64	0.86602	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.186654	0.56097	D	0.000023	D	0.83589	0.5287	.	.	.	0.47905	D	0.999544	D;D	0.64830	0.969;0.994	P;P	0.55260	0.772;0.615	D	0.83914	0.0297	8	.	.	.	.	16.1617	0.81721	1.0:0.0:0.0:0.0	.	787;414	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	C	787;776;414;414	ENSP00000451648:S414C;ENSP00000338349:S414C	.	S	+	1	0	NRXN3	78493421	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	6.127000	0.71642	2.275000	0.75901	0.528000	0.53228	AGC		PASS	0.498	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		13	41	13	41	---	---	---	---
MAGEL2	54551	broad.mit.edu	37	15	23889145	23889145	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr15:23889145G>T	ENST00000532292.1	-	1	2030	c.1936C>A	c.(1936-1938)Cgc>Agc	p.R646S		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	529					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)	p.R646S(1)|p.P677P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		ACCTATTAGCGGGGAGGGGGC	0.577																																						uc001ywj.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(1936-1938)CGC>AGC		MAGE-like protein 2							25.0	29.0	28.0					15																	23889145		2009	4178	6187	SO:0001583	missense	54551							g.chr15:23889145G>T	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1936C>A	15.37:g.23889145G>T	ENSP00000433433:p.Arg646Ser						p.R646S	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	2031	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.1936C>A																																																																																					PASS	0.577	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		10	18	10	18	---	---	---	---
LPCAT4	254531	broad.mit.edu	37	15	34656452	34656452	+	Silent	SNP	T	T	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr15:34656452T>A	ENST00000314891.6	-	4	711	c.534A>T	c.(532-534)cgA>cgT	p.R178R	LPCAT4_ENST00000562431.1_5'Flank	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	178					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)	p.R178R(1)		NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CCACTCTGCGTCGAGAAGCCG	0.572																																						uc001zig.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(532-534)CGA>CGT		lysophosphatidylcholine acyltransferase 4							115.0	119.0	118.0					15																	34656452		2201	4298	6499	SO:0001819	synonymous_variant	254531				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding	g.chr15:34656452T>A	AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 2"""	612039	"""acyltransferase like 3"", ""1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"""	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.534A>T	15.37:g.34656452T>A						LPCAT4_uc010bav.1_Silent_p.R178R	p.R178R	NM_153613	NP_705841	Q643R3	LPCT4_HUMAN			4	628	-			178					A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Silent	SNP	ENST00000314891.6	37	c.534A>T	CCDS32191.1																																																																																				PASS	0.572	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418028.2	NM_153613		37	77	37	77	---	---	---	---
TP53BP1	7158	broad.mit.edu	37	15	43714111	43714111	+	Missense_Mutation	SNP	C	C	A	rs377516466		TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr15:43714111C>A	ENST00000263801.3	-	19	4279	c.4027G>T	c.(4027-4029)Ggg>Tgg	p.G1343W	TP53BP1_ENST00000382039.3_Missense_Mutation_p.G1348W|TP53BP1_ENST00000450115.2_Missense_Mutation_p.G1348W|TP53BP1_ENST00000382044.4_Missense_Mutation_p.G1348W	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1343					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.G1343W(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGTTCTGTCCCGCTGGTTTTC	0.582								Other conserved DNA damage response genes																														uc001zrs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7						c.(4027-4029)GGG>TGG	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	tumor protein p53 binding protein 1 isoform 3							81.0	81.0	81.0					15																	43714111		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43714111C>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4027G>T	15.37:g.43714111C>A	ENSP00000263801:p.Gly1343Trp					TP53BP1_uc010udp.1_Missense_Mutation_p.G1343W|TP53BP1_uc001zrq.3_Missense_Mutation_p.G1348W|TP53BP1_uc001zrr.3_Missense_Mutation_p.G1348W|TP53BP1_uc010udq.1_Missense_Mutation_p.G1348W	p.G1343W	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	19	4175	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1343					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.4027G>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242100	0.58995	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.04917	3.55;3.55;3.53;3.55	5.71	4.78	0.61160	.	0.111074	0.64402	D	0.000010	T	0.11836	0.0288	N	0.19112	0.55	0.39539	D	0.968784	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.989;0.995;0.995	T	0.02728	-1.1118	10	0.59425	D	0.04	-8.4948	10.0871	0.42425	0.0:0.7897:0.1383:0.072	.	1348;1343;1348;1348	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	W	1343;1348;1348;1348	ENSP00000263801:G1343W;ENSP00000371475:G1348W;ENSP00000371470:G1348W;ENSP00000393497:G1348W	ENSP00000263801:G1343W	G	-	1	0	TP53BP1	41501403	0.998000	0.40836	1.000000	0.80357	0.966000	0.64601	2.574000	0.46016	2.860000	0.98153	0.655000	0.94253	GGG		PASS	0.582	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			17	34	17	34	---	---	---	---
MYO5C	55930	broad.mit.edu	37	15	52564918	52564918	+	Silent	SNP	G	G	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr15:52564918G>A	ENST00000261839.7	-	6	770	c.609C>T	c.(607-609)gcC>gcT	p.A203A	MYO5C_ENST00000541028.1_5'UTR|MYO5C_ENST00000443683.2_Silent_p.A146A	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	203	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A203A(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CATTTCCAACGGCCTAAAAAA	0.353																																						uc010bff.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14						c.(607-609)GCC>GCT		myosin VC							87.0	77.0	80.0					15																	52564918		1810	4069	5879	SO:0001819	synonymous_variant	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52564918G>A	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.609C>T	15.37:g.52564918G>A						MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA|MYO5C_uc010ugc.1_Silent_p.A166A	p.A203A	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	6	746	-			203			Myosin head-like.		Q6P1W8	Silent	SNP	ENST00000261839.7	37	c.609C>T	CCDS42036.1																																																																																				PASS	0.353	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		5	50	5	50	---	---	---	---
ADAM10	102	broad.mit.edu	37	15	58902590	58902590	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr15:58902590C>T	ENST00000260408.3	-	14	2374	c.1931G>A	c.(1930-1932)cGg>cAg	p.R644Q	ADAM10_ENST00000396140.2_Missense_Mutation_p.R343Q|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	644	Cys-rich.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.R644Q(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TAATCTGCACCGCATGAAAAC	0.453																																						uc002afd.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1930-1932)CGG>CAG		ADAM metallopeptidase domain 10 precursor							118.0	110.0	113.0					15																	58902590		2192	4292	6484	SO:0001583	missense	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58902590C>T	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1931G>A	15.37:g.58902590C>T	ENSP00000260408:p.Arg644Gln					ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.R343Q|ADAM10_uc002afe.1_Intron|ADAM10_uc002aff.1_Missense_Mutation_p.R181Q	p.R644Q	NM_001110	NP_001101	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	14	2375	-			644			Extracellular (Potential).|Cys-rich.		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.1931G>A	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220391	0.79464	.	.	ENSG00000137845	ENST00000260408;ENST00000396136;ENST00000396140	T;T	0.25579	1.79;3.09	5.37	5.37	0.77165	.	0.102393	0.64402	D	0.000004	T	0.28300	0.0699	L	0.54323	1.7	0.54753	D	0.999988	B;B;B	0.28128	0.201;0.201;0.201	B;B;B	0.14578	0.011;0.007;0.007	T	0.03807	-1.1002	10	0.49607	T	0.09	-13.7527	19.4747	0.94982	0.0:1.0:0.0:0.0	.	343;463;644	B4DU28;A8MY20;O14672	.;.;ADA10_HUMAN	Q	644;463;343	ENSP00000260408:R644Q;ENSP00000379444:R343Q	ENSP00000260408:R644Q	R	-	2	0	ADAM10	56689882	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.937000	0.48979	2.666000	0.90696	0.655000	0.94253	CGG		PASS	0.453	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		26	42	26	42	---	---	---	---
IL16	3603	broad.mit.edu	37	15	81585143	81585143	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr15:81585143C>G	ENST00000302987.4	+	11	1667	c.1667C>G	c.(1666-1668)tCt>tGt	p.S556C	IL16_ENST00000394660.2_Missense_Mutation_p.S556C			Q14005	IL16_HUMAN	interleukin 16	556					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S556C(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTGGTGCTTTCTATAGCATCC	0.612																																						uc002bgh.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|skin(1)	4						c.(1666-1668)TCT>TGT		interleukin 16 isoform 2							27.0	31.0	30.0					15																	81585143		1957	4140	6097	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81585143C>G	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1667C>G	15.37:g.81585143C>G	ENSP00000302935:p.Ser556Cys					IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.S556C|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.S598C|IL16_uc002bgg.2_Missense_Mutation_p.S556C|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.2_Missense_Mutation_p.S50C|IL16_uc002bgk.2_5'Flank	p.S556C	NM_172217	NP_757366	Q14005	IL16_HUMAN			12	2043	+			556					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.1667C>G	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	C	4.039	0.004870	0.07866	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842	T;T	0.12361	2.7;2.69	3.72	2.8	0.32819	.	0.538057	0.15669	N	0.250500	T	0.06188	0.0160	N	0.08118	0	0.18873	N	0.999988	P;P;P;P	0.42871	0.688;0.553;0.553;0.792	B;B;B;B	0.41202	0.19;0.19;0.19;0.35	T	0.17745	-1.0359	10	0.37606	T	0.19	.	3.3283	0.07075	0.3932:0.4176:0.0:0.1893	.	50;93;556;556	Q6ZTT5;B7Z8M3;Q14005;Q14005-2	.;.;IL16_HUMAN;.	C	556;388;556;93	ENSP00000378155:S556C;ENSP00000302935:S556C	ENSP00000302935:S556C	S	+	2	0	IL16	79372198	0.000000	0.05858	0.006000	0.13384	0.004000	0.04260	0.648000	0.24828	2.079000	0.62486	0.561000	0.74099	TCT		PASS	0.612	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		3	18	3	18	---	---	---	---
ANPEP	290	broad.mit.edu	37	15	90347487	90347487	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr15:90347487G>T	ENST00000300060.6	-	6	1489	c.1176C>A	c.(1174-1176)caC>caA	p.H392Q	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	392	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.H392Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GGTCTACCTGGTGGGCCAGCT	0.642																																					NSCLC(30;827 977 2459 19669 26125)	uc002bop.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1174-1176)CAC>CAA		membrane alanine aminopeptidase precursor	Ezetimibe(DB00973)						70.0	76.0	74.0					15																	90347487		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90347487G>T	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.1176C>A	15.37:g.90347487G>T	ENSP00000300060:p.His392Gln						p.H392Q	NM_001150	NP_001141	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		6	1468	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		392			Extracellular.|Metalloprotease.	Zinc; catalytic (By similarity).	Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.1176C>A	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190940	0.58017	.	.	ENSG00000166825	ENST00000300060	T	0.14893	2.47	4.63	2.72	0.32119	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.55178	0.1904	H	0.99182	4.46	0.50632	D	0.999888	D	0.89917	1.0	D	0.97110	1.0	T	0.58329	-0.7655	10	0.87932	D	0	.	6.296	0.21087	0.3242:0.0:0.6758:0.0	.	392	P15144	AMPN_HUMAN	Q	392	ENSP00000300060:H392Q	ENSP00000300060:H392Q	H	-	3	2	ANPEP	88148491	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	1.592000	0.36676	0.379000	0.24794	0.313000	0.20887	CAC		PASS	0.642	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			38	46	38	46	---	---	---	---
TMEM204	79652	broad.mit.edu	37	16	1584307	1584307	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr16:1584307G>A	ENST00000566264.1	+	1	734	c.31G>A	c.(31-33)Gtg>Atg	p.V11M	IFT140_ENST00000426508.2_Intron|IFT140_ENST00000361339.5_5'Flank|TMEM204_ENST00000253934.5_Missense_Mutation_p.V11M	NM_024600.5	NP_078876.2	Q9BSN7	TM204_HUMAN	transmembrane protein 204	11					lymph vessel development (GO:0001945)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to stress (GO:0006950)|smooth muscle cell differentiation (GO:0051145)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V11M(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				GGCCGCGGCCGTGCTGGTGGC	0.682																																						uc002cmc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(31-33)GTG>ATG		transmembrane protein 204							35.0	43.0	41.0					16																	1584307		2154	4257	6411	SO:0001583	missense	79652				response to stress	adherens junction|integral to membrane		g.chr16:1584307G>A		CCDS42098.1	16p13.3	2008-02-05	2008-01-08	2008-01-08		ENSG00000131634			14158	protein-coding gene	gene with protein product		611002	"""chromosome 16 open reading frame 30"""	C16orf30			Standard	NM_024600		Approved	FLJ20898	uc002cmc.3	Q9BSN7		ENST00000566264.1:c.31G>A	16.37:g.1584307G>A	ENSP00000454945:p.Val11Met					IFT140_uc002clz.2_Intron|IFT140_uc002cmb.2_Intron|TMEM204_uc002cmd.2_Missense_Mutation_p.V11M|TMEM204_uc010brr.1_Missense_Mutation_p.V11M	p.V11M	NM_024600	NP_078876	Q9BSN7	TM204_HUMAN			2	429	+		Hepatocellular(780;0.219)	11			Helical; (Potential).		D3DU76|Q3KRC1|Q9H7G5	Missense_Mutation	SNP	ENST00000566264.1	37	c.31G>A	CCDS42098.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311545	0.81358	.	.	ENSG00000131634	ENST00000253934	T	0.55588	0.51	5.29	5.29	0.74685	.	0.057437	0.64402	D	0.000001	T	0.62502	0.2433	L	0.29908	0.895	0.58432	D	0.999998	D	0.89917	1.0	D	0.66196	0.942	T	0.66324	-0.5952	10	0.72032	D	0.01	-1.9598	18.9332	0.92574	0.0:0.0:1.0:0.0	.	11	Q9BSN7	TM204_HUMAN	M	11	ENSP00000253934:V11M	ENSP00000253934:V11M	V	+	1	0	TMEM204	1524308	1.000000	0.71417	0.947000	0.38551	0.278000	0.26855	9.367000	0.97148	2.457000	0.83068	0.655000	0.94253	GTG		PASS	0.682	TMEM204-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432610.1	NM_024600		4	27	4	27	---	---	---	---
PPL	5493	broad.mit.edu	37	16	4934186	4934186	+	Silent	SNP	C	C	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr16:4934186C>A	ENST00000345988.2	-	22	4559	c.4470G>T	c.(4468-4470)ctG>ctT	p.L1490L	PPL_ENST00000590782.2_Silent_p.L1488L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1490					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.L1490L(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCGCCTTCTCCAGTGCAGCCA	0.637																																						uc002cyd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4468-4470)CTG>CTT		periplakin							57.0	47.0	51.0					16																	4934186		2197	4299	6496	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934186C>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4470G>T	16.37:g.4934186C>A							p.L1490L	NM_002705	NP_002696	O60437	PEPL_HUMAN			22	4560	-			1490			Potential.		O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.4470G>T	CCDS10526.1																																																																																				PASS	0.637	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		4	30	4	30	---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24801321	24801321	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr16:24801321C>A	ENST00000395799.3	+	6	1487	c.1358C>A	c.(1357-1359)cCa>cAa	p.P453Q	TNRC6A_ENST00000315183.7_Missense_Mutation_p.P453Q	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	453	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1, AGO3 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P453Q(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ATGACTGGACCAAATAACACT	0.438																																						uc002dmm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1357-1359)CCA>CAA		trinucleotide repeat containing 6A							58.0	56.0	57.0					16																	24801321		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24801321C>A	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.1358C>A	16.37:g.24801321C>A	ENSP00000379144:p.Pro453Gln					TNRC6A_uc010bxs.2_Missense_Mutation_p.P200Q|TNRC6A_uc010vcc.1_Missense_Mutation_p.P200Q|TNRC6A_uc002dmn.2_Missense_Mutation_p.P200Q|TNRC6A_uc002dmo.2_Missense_Mutation_p.P200Q	p.P453Q	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	1472	+			453			Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.1358C>A	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	17.60	3.428873	0.62844	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.44881	0.91;1.02	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.67069	0.2854	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.989;0.999;0.998	T	0.67138	-0.5746	10	0.72032	D	0.01	-7.5051	20.3594	0.98849	0.0:1.0:0.0:0.0	.	200;453;453	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	Q	453	ENSP00000326900:P453Q;ENSP00000379144:P453Q	ENSP00000326900:P453Q	P	+	2	0	TNRC6A	24708822	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.247000	0.78257	2.816000	0.96949	0.563000	0.77884	CCA		PASS	0.438	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		10	15	10	15	---	---	---	---
GTF3C1	2975	broad.mit.edu	37	16	27504600	27504600	+	Missense_Mutation	SNP	T	T	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr16:27504600T>A	ENST00000356183.4	-	17	2811	c.2796A>T	c.(2794-2796)gaA>gaT	p.E932D	GTF3C1_ENST00000561623.1_Missense_Mutation_p.E932D	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	932					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E932D(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CGTTCAGAAATTCCTCCAGGT	0.552																																						uc002dov.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(2794-2796)GAA>GAT		general transcription factor IIIC, polypeptide							114.0	102.0	106.0					16																	27504600		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27504600T>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.2796A>T	16.37:g.27504600T>A	ENSP00000348510:p.Glu932Asp					GTF3C1_uc002dou.2_Missense_Mutation_p.E932D	p.E932D	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			17	2836	-			932					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.2796A>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	T	1.286	-0.608933	0.03690	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.24151	1.87	5.38	-7.7	0.01259	.	0.386003	0.29218	N	0.012782	T	0.06416	0.0165	N	0.11560	0.145	0.09310	N	0.999991	B;B	0.12013	0.005;0.002	B;B	0.10450	0.004;0.005	T	0.28839	-1.0031	10	0.12766	T	0.61	-14.1759	0.1099	0.00055	0.2668:0.2402:0.2191:0.2739	.	932;932	Q12789;Q12789-3	TF3C1_HUMAN;.	D	932;930	ENSP00000348510:E932D	ENSP00000348510:E932D	E	-	3	2	GTF3C1	27412101	0.004000	0.15560	0.587000	0.28692	0.151000	0.21798	-1.292000	0.02772	-1.462000	0.01907	-2.000000	0.00444	GAA		PASS	0.552	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		4	12	4	12	---	---	---	---
PHKG2	5261	broad.mit.edu	37	16	30768035	30768035	+	Splice_Site	SNP	G	G	A	rs572115942		TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr16:30768035G>A	ENST00000563588.1	+	9	1165	c.926G>A	c.(925-927)cGg>cAg	p.R309Q	PHKG2_ENST00000328273.7_Splice_Site_p.R313Q|PHKG2_ENST00000424889.3_Splice_Site_p.R309Q	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	309	Calmodulin-binding (domain-N). {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.R309Q(1)		ovary(1)|skin(1)	2			Colorectal(24;0.198)			CAGCGGTTCCGGGTAAGCCTG	0.627																																						uc002dzk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(925-927)CGG>CAG		phosphorylase kinase, gamma 2 (testis)							69.0	79.0	76.0					16																	30768035		2197	4300	6497	SO:0001630	splice_region_variant	5261				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr16:30768035G>A	S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.927+1G>A	16.37:g.30768035G>A						PHKG2_uc002dzi.1_Missense_Mutation_p.R313Q|PHKG2_uc002dzj.1_Missense_Mutation_p.R207Q	p.R309Q	NM_000294	NP_000285	P15735	PHKG2_HUMAN	Colorectal(24;0.198)		9	1019	+			309			Calmodulin-binding (domain-N) (By similarity).		A8K0C7|B4DEB7|E9PEU3|P11800	Missense_Mutation	SNP	ENST00000563588.1	37	c.926G>A	CCDS10690.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412890	0.62511	.	.	ENSG00000156873	ENST00000328273;ENST00000424889	T;T	0.49720	0.77;1.66	5.95	5.95	0.96441	Protein kinase-like domain (1);	0.000000	0.44483	D	0.000460	T	0.54838	0.1883	L	0.42008	1.315	0.49483	D	0.999795	D;D	0.65815	0.992;0.995	P;P	0.59115	0.716;0.852	T	0.46048	-0.9219	10	0.32370	T	0.25	-8.8811	13.1582	0.59531	0.0764:0.0:0.9236:0.0	.	309;309	P15735;P15735-2	PHKG2_HUMAN;.	Q	309	ENSP00000329968:R309Q;ENSP00000388571:R309Q	ENSP00000329968:R309Q	R	+	2	0	PHKG2	30675536	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.288000	0.59007	2.825000	0.97269	0.655000	0.94253	CGG		PASS	0.627	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255531.2	NM_000294	Missense_Mutation	10	53	10	53	---	---	---	---
C16orf93	90835	broad.mit.edu	37	16	30771646	30771646	+	Missense_Mutation	SNP	G	G	T	rs536695925	byFrequency	TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr16:30771646G>T	ENST00000543610.1	-	4	1389	c.428C>A	c.(427-429)gCg>gAg	p.A143E	C16orf93_ENST00000541260.1_Missense_Mutation_p.A143E|RNF40_ENST00000357890.5_5'Flank|RNF40_ENST00000402121.3_5'Flank|C16orf93_ENST00000545825.1_Missense_Mutation_p.A143E|RNF40_ENST00000324685.6_5'Flank|RNF40_ENST00000563683.1_5'Flank|PHKG2_ENST00000563588.1_3'UTR|PHKG2_ENST00000424889.3_3'UTR	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	143								p.A106E(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						GGCACAAGCCGCTGACGTCTG	0.617																																						uc002dzm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(427-429)GCG>GAG		hypothetical protein LOC90835							58.0	65.0	63.0					16																	30771646		2197	4300	6497	SO:0001583	missense	90835							g.chr16:30771646G>T	BC042548	CCDS32434.1, CCDS32434.2, CCDS55993.1	16p11.2	2012-10-10			ENSG00000196118	ENSG00000196118			28078	protein-coding gene	gene with protein product							Standard	NM_001195620		Approved	MGC104706	uc002dzm.3	A1A4V9	OTTHUMG00000167926	ENST00000543610.1:c.428C>A	16.37:g.30771646G>T	ENSP00000437532:p.Ala143Glu					C16orf93_uc002dzn.2_Missense_Mutation_p.A143E|C16orf93_uc002dzo.2_Missense_Mutation_p.A106E|C16orf93_uc002dzp.2_Missense_Mutation_p.A143E|RNF40_uc002dzq.2_5'Flank|RNF40_uc010caa.2_5'Flank|RNF40_uc010cab.2_5'Flank|RNF40_uc010vfa.1_5'Flank|RNF40_uc002dzr.2_5'Flank|RNF40_uc010vfb.1_5'Flank	p.A143E	NM_001014979	NP_001014979	A1A4V9	CP093_HUMAN			4	759	-			143					A1A4V8|F5GX13|Q569G2	Missense_Mutation	SNP	ENST00000543610.1	37	c.428C>A	CCDS32434.2	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679921	0.47886	.	.	ENSG00000196118	ENST00000354963;ENST00000543610;ENST00000545825	.	.	.	4.76	3.81	0.43845	.	0.431854	0.21270	N	0.077325	T	0.51770	0.1694	L	0.59436	1.845	0.09310	N	1	D;D;D	0.69078	0.997;0.96;0.96	P;P;P	0.61003	0.882;0.653;0.483	T	0.38866	-0.9641	9	0.23891	T	0.37	-0.0145	10.2005	0.43080	0.0939:0.0:0.9061:0.0	.	143;106;143	F5GX13;A1A4V9-2;A1A4V9	.;.;CP093_HUMAN	E	106;143;143	.	ENSP00000347050:A106E	A	-	2	0	C16orf93	30679147	0.240000	0.23847	0.005000	0.12908	0.400000	0.30750	3.386000	0.52492	1.237000	0.43756	0.462000	0.41574	GCG		PASS	0.617	C16orf93-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397089.1	NM_001014979		7	25	7	25	---	---	---	---
PLCG2	5336	broad.mit.edu	37	16	81953096	81953097	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr16:81953096_81953097GG>TT	ENST00000359376.3	+	20	2276_2277	c.2062_2063GG>TT	c.(2062-2064)GGc>TTc	p.G688F		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	688	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.G688F(2)|p.G688V(2)|p.G688C(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CAGGGCTAGGGGCAAGGTAAAG	0.51																																						uc002fgt.2																			6	Substitution - Missense(6)		lung(6)	large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						c.(2062-2064)GGC>TGC|c.(2062-2064)GGC>GTC		phospholipase C, gamma 2																																				SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81953096G>T|g.chr16:81953097G>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		Exception_encountered	16.37:g.81953096_81953097delinsTT	ENSP00000352336:p.Gly688Phe					PLCG2_uc010chg.1_Missense_Mutation_p.G688C|PLCG2_uc010chg.1_Missense_Mutation_p.G688V	p.G688C|p.G688V	NM_002661	NP_002652	P16885	PLCG2_HUMAN			20	2214|2215	+			688			SH2 2.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.2062G>T|c.2063G>T	CCDS42204.1																																																																																				PASS	0.510	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			13|12	28	12	28	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10360876	10360876	+	Silent	SNP	G	G	T	rs565064365		TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr17:10360876G>T	ENST00000255381.2	-	16	1868	c.1758C>A	c.(1756-1758)gcC>gcA	p.A586A	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	586	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.A586A(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCACGGTGCCGGCATAGTGCA	0.527																																						uc002gmn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(1756-1758)GCC>GCA		myosin, heavy polypeptide 4, skeletal muscle							133.0	132.0	132.0					17																	10360876		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10360876G>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1758C>A	17.37:g.10360876G>T						uc002gml.1_Intron	p.A586A	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			16	1869	-			586			Myosin head-like.			Silent	SNP	ENST00000255381.2	37	c.1758C>A	CCDS11154.1																																																																																				PASS	0.527	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		27	21	27	21	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29653203	29653203	+	Missense_Mutation	SNP	A	A	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr17:29653203A>T	ENST00000358273.4	+	37	5584	c.5201A>T	c.(5200-5202)gAa>gTa	p.E1734V	NF1_ENST00000356175.3_Missense_Mutation_p.E1713V|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1734	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.E1734V(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTGGCTTTAGAAGAGGACCTG	0.423			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(2)		soft_tissue(7)|lung(3)|autonomic_ganglia(2)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(5200-5202)GAA>GTA		neurofibromin isoform 1							82.0	77.0	79.0					17																	29653203		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29653203A>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5201A>T	17.37:g.29653203A>T	ENSP00000351015:p.Glu1734Val	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.E1713V|NF1_uc002hgi.1_Missense_Mutation_p.E746V|NF1_uc010cso.2_5'UTR	p.E1734V	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	37	5534	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1734			CRAL-TRIO.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.5201A>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	18.41	3.618277	0.66787	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.09817	3.09;3.24;2.94	5.61	5.61	0.85477	Cellular retinaldehyde-binding/triple function, C-terminal (2);Armadillo-type fold (1);	0.165864	0.52532	D	0.000069	T	0.12732	0.0309	L	0.46157	1.445	0.80722	D	1	P;B;B	0.45474	0.859;0.147;0.289	B;B;B	0.42653	0.394;0.104;0.232	T	0.12528	-1.0544	10	0.21014	T	0.42	.	14.9876	0.71359	1.0:0.0:0.0:0.0	.	763;1713;1734	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	V	1734;1713;1379	ENSP00000351015:E1734V;ENSP00000348498:E1713V;ENSP00000389907:E1379V	ENSP00000348498:E1713V	E	+	2	0	NF1	26677329	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.898000	0.92538	2.154000	0.67381	0.477000	0.44152	GAA		PASS	0.423	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		34	45	34	45	---	---	---	---
COL1A1	1277	broad.mit.edu	37	17	48266736	48266736	+	Splice_Site	SNP	A	A	G	rs113739104		TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr17:48266736A>G	ENST00000225964.5	-	39	2948		c.e39+1			NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1						blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.?(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GCTGGCACTTACAGCAGGACC	0.642			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															uc002iqm.2				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst 	COL1A1/PDGFB(372)	1	Unknown(1)		lung(1)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382						c.e39+1		alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						42.0	46.0	45.0					17																	48266736		2203	4300	6503	SO:0001630	splice_region_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48266736A>G	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.2829+1T>C	17.37:g.48266736A>G							p.A943_splice	NM_000088	NP_000079	P02452	CO1A1_HUMAN			39	2955	-								O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Splice_Site	SNP	ENST00000225964.5	37	c.2829_splice	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	A	17.85	3.490296	0.64074	.	.	ENSG00000108821	ENST00000225964	.	.	.	4.26	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.497	0.55933	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL1A1	45621735	1.000000	0.71417	0.998000	0.56505	0.862000	0.49288	7.231000	0.78106	1.805000	0.52779	0.254000	0.18369	.		PASS	0.642	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2		Intron	16	40	16	40	---	---	---	---
PCTP	58488	broad.mit.edu	37	17	53851197	53851197	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr17:53851197G>T	ENST00000268896.5	+	4	577	c.452G>T	c.(451-453)cGg>cTg	p.R151L	PCTP_ENST00000576221.1_3'UTR|PCTP_ENST00000576183.1_Missense_Mutation_p.R151L|PCTP_ENST00000325214.6_Missense_Mutation_p.R79L|PCTP_ENST00000573500.1_Missense_Mutation_p.R151L	NM_021213.3	NP_067036.2	Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein	151	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|phospholipid transport (GO:0015914)	cytosol (GO:0005829)	phosphatidylcholine binding (GO:0031210)|phosphatidylcholine transporter activity (GO:0008525)	p.R151L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10			BRCA - Breast invasive adenocarcinoma(1;0.00207)			GGGGTGATCCGGGTGAAGCAA	0.612																																						uc002iul.3																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(451-453)CGG>CTG		phosphatidylcholine transfer protein isoform 1							65.0	49.0	55.0					17																	53851197		2203	4300	6503	SO:0001583	missense	58488					cytosol	phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity	g.chr17:53851197G>T	AK024667	CCDS11588.1, CCDS45741.1	17q21-q24	2011-09-13				ENSG00000141179		"""StAR-related lipid transfer (START) domain containing"""	8752	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 2"""	606055					Standard	NM_021213		Approved	STARD2	uc002iul.4	Q9UKL6		ENST00000268896.5:c.452G>T	17.37:g.53851197G>T	ENSP00000268896:p.Arg151Leu					PCTP_uc002ium.3_Missense_Mutation_p.R79L|PCTP_uc010dcg.2_Intron|PCTP_uc010dch.2_RNA	p.R151L	NM_021213	NP_067036	Q9UKL6	PPCT_HUMAN	BRCA - Breast invasive adenocarcinoma(1;0.00207)		4	561	+			151			START.		Q9BSC9|Q9UIT3|Q9UKW7	Missense_Mutation	SNP	ENST00000268896.5	37	c.452G>T	CCDS11588.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002612	0.93227	.	.	ENSG00000141179	ENST00000268896;ENST00000417982;ENST00000325214	D	0.91521	-2.86	5.93	5.93	0.95920	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.96281	0.8787	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96644	0.9476	10	0.87932	D	0	-0.4363	15.854	0.78960	0.0:0.0:1.0:0.0	.	151	Q9UKL6	PPCT_HUMAN	L	151;79;130	ENSP00000268896:R151L	ENSP00000268896:R151L	R	+	2	0	PCTP	51206196	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	6.863000	0.75489	2.826000	0.97356	0.655000	0.94253	CGG		PASS	0.612	PCTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439271.2	NM_021213		14	16	14	16	---	---	---	---
PRKCA	5578	broad.mit.edu	37	17	64299001	64299001	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr17:64299001C>T	ENST00000413366.3	+	1	58	c.32C>T	c.(31-33)aCg>aTg	p.T11M	PRKCA_ENST00000583361.1_3'UTR	NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	11					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)	p.T11M(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	AACGACTCCACGGCGTCTCAG	0.687																																						uc002jfp.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9						c.(31-33)ACG>ATG		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						62.0	49.0	54.0					17																	64299001		2203	4300	6503	SO:0001583	missense	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64299001C>T		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.32C>T	17.37:g.64299001C>T	ENSP00000408695:p.Thr11Met					PRKCA_uc002jfo.1_Translation_Start_Site	p.T11M	NM_002737	NP_002728	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		1	76	+			11					B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	ENST00000413366.3	37	c.32C>T	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.416708	0.25552	.	.	ENSG00000154229	ENST00000413366	T	0.71222	-0.55	3.14	0.915	0.19366	.	3.268730	0.02232	U	0.064972	T	0.50548	0.1622	N	0.22421	0.69	0.21579	N	0.999633	P	0.47106	0.89	B	0.33196	0.159	T	0.48234	-0.9053	10	0.44086	T	0.13	.	3.1836	0.06593	0.1527:0.505:0.2327:0.1097	.	11	P17252	KPCA_HUMAN	M	11	ENSP00000408695:T11M	ENSP00000408695:T11M	T	+	2	0	PRKCA	61729463	0.902000	0.30710	0.213000	0.23690	0.518000	0.34316	2.470000	0.45119	-0.106000	0.12110	0.205000	0.17691	ACG		PASS	0.687	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			15	18	15	18	---	---	---	---
RNMT	8731	broad.mit.edu	37	18	13752338	13752338	+	Missense_Mutation	SNP	A	A	G			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr18:13752338A>G	ENST00000383314.2	+	10	1511	c.1271A>G	c.(1270-1272)aAt>aGt	p.N424S	RNMT_ENST00000589866.1_Missense_Mutation_p.N424S|RNMT_ENST00000535051.1_Missense_Mutation_p.N182S|RNMT_ENST00000543302.2_Missense_Mutation_p.N424S|RNMT_ENST00000262173.3_Missense_Mutation_p.N424S|RNMT_ENST00000592764.1_Missense_Mutation_p.N424S			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	424	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)	p.N424S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						TATCCTGCAAATGAGAGTTCT	0.338																																					GBM(29;474 594 19092 36647 41529)	uc002ksk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1270-1272)AAT>AGT		RNA (guanine-7-) methyltransferase							102.0	97.0	99.0					18																	13752338		2203	4300	6503	SO:0001583	missense	8731				mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	g.chr18:13752338A>G	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.1271A>G	18.37:g.13752338A>G	ENSP00000372804:p.Asn424Ser					RNMT_uc002ksl.1_Missense_Mutation_p.N424S|RNMT_uc002ksm.1_Missense_Mutation_p.N424S|RNMT_uc010dlk.2_Missense_Mutation_p.N424S|RNMT_uc010xae.1_RNA	p.N424S	NM_003799	NP_003790	O43148	MCES_HUMAN			9	1338	+			424					B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	ENST00000383314.2	37	c.1271A>G	CCDS11867.1	.	.	.	.	.	.	.	.	.	.	A	9.351	1.065548	0.20067	.	.	ENSG00000101654	ENST00000383314;ENST00000535051;ENST00000543302;ENST00000262173	.	.	.	5.72	4.56	0.56223	.	0.491361	0.24930	N	0.034464	T	0.25568	0.0622	L	0.38175	1.15	0.19775	N	0.999958	B;B	0.09022	0.002;0.002	B;B	0.14578	0.002;0.011	T	0.28267	-1.0049	9	0.08381	T	0.77	-28.0279	3.9515	0.09371	0.6708:0.1325:0.0695:0.1272	.	424;424	O43148-2;O43148	.;MCES_HUMAN	S	424;182;424;424	.	ENSP00000262173:N424S	N	+	2	0	RNMT	13742338	0.628000	0.27138	0.928000	0.36995	0.751000	0.42716	1.169000	0.31871	1.009000	0.39289	0.477000	0.44152	AAT		PASS	0.338	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		12	15	12	15	---	---	---	---
FHOD3	80206	broad.mit.edu	37	18	34298246	34298246	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr18:34298246G>T	ENST00000359247.4	+	15	2409	c.2409G>T	c.(2407-2409)atG>atT	p.M803I	FHOD3_ENST00000590592.1_Missense_Mutation_p.M995I|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000445677.1_Missense_Mutation_p.M782I|FHOD3_ENST00000592128.1_5'Flank|FHOD3_ENST00000257209.4_Missense_Mutation_p.M820I	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	803					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.M820I(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TCCAAGACATGGATTTCACTG	0.582																																						uc002kzt.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(2)|breast(2)|ovary(1)	8						c.(2407-2409)ATG>ATT		formin homology 2 domain containing 3							55.0	55.0	55.0					18																	34298246		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34298246G>T	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.2409G>T	18.37:g.34298246G>T	ENSP00000352186:p.Met803Ile					FHOD3_uc002kzs.1_Missense_Mutation_p.M820I|FHOD3_uc010dmz.1_Missense_Mutation_p.M535I|FHOD3_uc010dna.1_Missense_Mutation_p.M123I	p.M803I	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN			15	2506	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	803					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.2409G>T		.	.	.	.	.	.	.	.	.	.	G	14.88	2.666137	0.47677	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.17370	2.28;2.28;2.28	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.24890	0.0604	L	0.28192	0.835	0.49687	D	0.999816	P;P;B	0.44281	0.831;0.74;0.046	P;P;B	0.54664	0.758;0.577;0.019	T	0.01771	-1.1277	10	0.44086	T	0.13	.	16.5577	0.84490	0.0:0.0:1.0:0.0	.	782;803;820	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	I	820;803;782	ENSP00000257209:M820I;ENSP00000352186:M803I;ENSP00000411430:M782I	ENSP00000257209:M820I	M	+	3	0	FHOD3	32552244	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.600000	0.74132	2.243000	0.73865	0.555000	0.69702	ATG		PASS	0.582	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		4	41	4	41	---	---	---	---
TCEB3B	51224	broad.mit.edu	37	18	44560772	44560772	+	Silent	SNP	A	A	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr18:44560772A>T	ENST00000332567.4	-	1	1216	c.864T>A	c.(862-864)gcT>gcA	p.A288A	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	288					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A288A(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCCGCTGCCAGCTTGCCCCC	0.612																																						uc002lcr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(862-864)GCT>GCA		elongin A2							100.0	108.0	105.0					18																	44560772		2202	4300	6502	SO:0001819	synonymous_variant	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44560772A>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.864T>A	18.37:g.44560772A>T						KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.A288A	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	1217	-			288					Q9P2V9	Silent	SNP	ENST00000332567.4	37	c.864T>A	CCDS11932.1																																																																																				PASS	0.612	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		38	31	38	31	---	---	---	---
MED16	10025	broad.mit.edu	37	19	872083	872083	+	Silent	SNP	C	C	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr19:872083C>A	ENST00000589119.1	-	11	1940	c.1941G>T	c.(1939-1941)cgG>cgT	p.R647R	MED16_ENST00000606828.1_5'Flank|MED16_ENST00000269814.4_Intron|MED16_ENST00000312090.6_Silent_p.R647R|MED16_ENST00000395808.3_Silent_p.R647R|MED16_ENST00000325464.1_Silent_p.R647R			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	647					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R647R(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGCCGTCCCGCAGAAAGC	0.662																																						uc002lqd.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1939-1941)CGG>CGT		mediator complex subunit 16							39.0	36.0	37.0					19																	872083		2170	4278	6448	SO:0001819	synonymous_variant	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:872083C>A	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1941G>T	19.37:g.872083C>A						MED16_uc010drw.1_Intron|MED16_uc002lqe.2_Silent_p.R636R|MED16_uc002lqf.2_Silent_p.R636R	p.R647R	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	2092	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	647			WD 4.		Q6PJT2|Q96AD4|Q96I35|Q9Y652	Silent	SNP	ENST00000589119.1	37	c.1941G>T	CCDS12047.1																																																																																				PASS	0.662	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		6	7	6	7	---	---	---	---
CLEC17A	388512	broad.mit.edu	37	19	14720890	14720890	+	Missense_Mutation	SNP	A	A	G			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr19:14720890A>G	ENST00000417570.1	+	14	1057	c.1019A>G	c.(1018-1020)gAg>gGg	p.E340G	CLEC17A_ENST00000397439.2_Silent_p.R286R|CLEC17A_ENST00000547437.1_Silent_p.R303R	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	340	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)	p.E340G(1)									tgggagccaGAGGAACCCAAT	0.458																																						uc010dzn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1018-1020)GAG>GGG		SubName: Full=CLEC17A protein;							98.0	93.0	95.0					19																	14720890		1917	4146	6063	SO:0001583	missense	388512					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	g.chr19:14720890A>G	AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.1019A>G	19.37:g.14720890A>G	ENSP00000393719:p.Glu340Gly					CLEC17A_uc002mzh.1_Silent_p.R286R|CLEC17A_uc010xnt.1_RNA|CLEC17A_uc010xnu.1_3'UTR|CLEC17A_uc010dzo.1_Silent_p.R303R	p.E340G			Q6ZS10	CL17A_HUMAN			14	1096	+			340			C-type lectin.|Extracellular (Potential).		A8MX68|B2RTX0|B7ZMM4	Missense_Mutation	SNP	ENST00000417570.1	37	c.1019A>G	CCDS56087.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.950822	0.00475	.	.	ENSG00000187912	ENST00000417570	T	0.10860	2.83	3.88	2.78	0.32641	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.01661	0.0053	N	0.00107	-2.115	0.09310	N	0.999997	B	0.17268	0.021	B	0.17722	0.019	T	0.45026	-0.9289	9	0.02654	T	1	.	4.5363	0.12032	0.8458:0.0:0.1542:0.0	.	340	Q6ZS10	CL17A_HUMAN	G	340	ENSP00000393719:E340G	ENSP00000393719:E340G	E	+	2	0	CLEC17A	14581890	0.605000	0.26941	0.239000	0.24122	0.338000	0.28826	2.142000	0.42177	1.645000	0.50612	0.533000	0.62120	GAG		PASS	0.458	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390		13	34	13	34	---	---	---	---
EMR2	30817	broad.mit.edu	37	19	14883240	14883240	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr19:14883240C>T	ENST00000315576.3	-	5	720	c.269G>A	c.(268-270)gGg>gAg	p.G90E	EMR2_ENST00000601345.1_Missense_Mutation_p.G90E|EMR2_ENST00000596991.2_Missense_Mutation_p.G90E|EMR2_ENST00000353876.1_Missense_Mutation_p.G90E|EMR2_ENST00000594076.1_Missense_Mutation_p.G90E|EMR2_ENST00000353005.1_Missense_Mutation_p.G90E|EMR2_ENST00000595839.1_Missense_Mutation_p.G90E|EMR2_ENST00000392965.3_Missense_Mutation_p.G90E|EMR2_ENST00000392964.3_5'Flank|EMR2_ENST00000346057.1_Missense_Mutation_p.G90E|EMR2_ENST00000594294.1_Missense_Mutation_p.G90E|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000392967.2_Missense_Mutation_p.G90E	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	90	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)	p.G90E(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GTCGTAGCTCCCCTCTGTGTT	0.517																																						uc002mzp.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|skin(1)	4						c.(268-270)GGG>GAG		egf-like module containing, mucin-like, hormone							211.0	153.0	173.0					19																	14883240		2203	4300	6503	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14883240C>T	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.269G>A	19.37:g.14883240C>T	ENSP00000319883:p.Gly90Glu					EMR2_uc010xnw.1_Missense_Mutation_p.G90E|EMR2_uc002mzo.1_Missense_Mutation_p.G90E|EMR2_uc002mzq.1_Missense_Mutation_p.G90E|EMR2_uc002mzr.1_Missense_Mutation_p.G90E|EMR2_uc002mzs.1_Missense_Mutation_p.G90E|EMR2_uc002mzt.1_Missense_Mutation_p.G90E|EMR2_uc002mzu.1_Missense_Mutation_p.G90E|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA	p.G90E	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN			5	725	-			90			Extracellular (Potential).|EGF-like 2; calcium-binding.		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.269G>A	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238214	0.58886	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000360222;ENST00000392965;ENST00000392962	D;D;D;D;D;D;D	0.99557	-6.16;-6.16;-6.16;-6.16;-6.16;-6.16;-6.16	3.95	3.95	0.45737	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99725	0.9893	H	0.96333	3.805	0.09310	N	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.992;0.994;0.976;0.967;0.999;0.998	D	0.97889	1.0296	9	0.87932	D	0	.	11.9048	0.52705	0.0:1.0:0.0:0.0	.	90;90;90;90;90;90;90	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;Q9UHX3;Q9UHX3-2	.;.;.;.;.;EMR2_HUMAN;.	E	90	ENSP00000319883:G90E;ENSP00000376694:G90E;ENSP00000263380:G90E;ENSP00000319454:G90E;ENSP00000319838:G90E;ENSP00000376692:G90E;ENSP00000376689:G90E	ENSP00000319883:G90E	G	-	2	0	EMR2	14744240	0.005000	0.15991	0.010000	0.14722	0.094000	0.18550	1.191000	0.32138	1.915000	0.55452	0.518000	0.50308	GGG		PASS	0.517	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			28	50	28	50	---	---	---	---
EMR2	30817	broad.mit.edu	37	19	14884827	14884827	+	Missense_Mutation	SNP	T	T	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr19:14884827T>A	ENST00000315576.3	-	4	573	c.122A>T	c.(121-123)aAt>aTt	p.N41I	EMR2_ENST00000601345.1_Missense_Mutation_p.N41I|EMR2_ENST00000596991.2_Missense_Mutation_p.N41I|EMR2_ENST00000353876.1_Missense_Mutation_p.N41I|EMR2_ENST00000594076.1_Missense_Mutation_p.N41I|EMR2_ENST00000353005.1_Missense_Mutation_p.N41I|EMR2_ENST00000595839.1_Missense_Mutation_p.N41I|EMR2_ENST00000392965.3_Missense_Mutation_p.N41I|EMR2_ENST00000392964.3_5'Flank|EMR2_ENST00000346057.1_Missense_Mutation_p.N41I|EMR2_ENST00000594294.1_Missense_Mutation_p.N41I|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000392967.2_Missense_Mutation_p.N41I	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	41	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)	p.N41I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GGCGGTGGCATTGACACACGA	0.587																																						uc002mzp.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|skin(1)	4						c.(121-123)AAT>ATT		egf-like module containing, mucin-like, hormone							126.0	116.0	119.0					19																	14884827		2203	4300	6503	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14884827T>A	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.122A>T	19.37:g.14884827T>A	ENSP00000319883:p.Asn41Ile					EMR2_uc010xnw.1_Missense_Mutation_p.N41I|EMR2_uc002mzo.1_Missense_Mutation_p.N41I|EMR2_uc002mzq.1_Missense_Mutation_p.N41I|EMR2_uc002mzr.1_Missense_Mutation_p.N41I|EMR2_uc002mzs.1_Missense_Mutation_p.N41I|EMR2_uc002mzt.1_Missense_Mutation_p.N41I|EMR2_uc002mzu.1_Missense_Mutation_p.N41I|EMR2_uc010xnx.1_5'Flank|EMR2_uc010xny.1_RNA	p.N41I	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN			4	578	-			41			Extracellular (Potential).|EGF-like 1.		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.122A>T	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.719028	0.48622	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000360222;ENST00000392965;ENST00000392962	T;T;T;T;T;T;D	0.89415	-1.01;-1.14;-0.59;0.17;0.71;-1.32;-2.51	3.87	0.334	0.15948	.	.	.	.	.	D	0.93403	0.7896	M	0.84948	2.725	0.09310	N	1	D;D;D;D;D;D;D	0.89917	0.991;0.991;0.997;1.0;1.0;0.985;1.0	P;D;D;D;D;P;D	0.83275	0.824;0.95;0.91;0.996;0.991;0.777;0.986	D	0.84299	0.0504	9	0.87932	D	0	.	6.8229	0.23866	0.0:0.3016:0.0:0.6984	.	41;41;41;41;41;41;41	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;Q9UHX3;Q9UHX3-2	.;.;.;.;.;EMR2_HUMAN;.	I	41	ENSP00000319883:N41I;ENSP00000376694:N41I;ENSP00000263380:N41I;ENSP00000319454:N41I;ENSP00000319838:N41I;ENSP00000376692:N41I;ENSP00000376689:N41I	ENSP00000319883:N41I	N	-	2	0	EMR2	14745827	0.000000	0.05858	0.001000	0.08648	0.222000	0.24845	-0.883000	0.04170	-0.098000	0.12285	0.327000	0.21459	AAT		PASS	0.587	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			14	67	14	67	---	---	---	---
URI1	8725	broad.mit.edu	37	19	30505964	30505964	+	Silent	SNP	A	A	G			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr19:30505964A>G	ENST00000542441.2	+	11	1893	c.1596A>G	c.(1594-1596)caA>caG	p.Q532Q	URI1_ENST00000360605.4_Intron|URI1_ENST00000392271.1_Silent_p.Q456Q|URI1_ENST00000312051.6_Silent_p.Q492Q			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	532					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.Q532Q(1)									CCAGATTGCAACAGAAAGACT	0.393																																						uc002nsr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)	2						c.(1594-1596)CAA>CAG		RPB5-mediating protein isoform a							77.0	77.0	77.0					19																	30505964		2203	4300	6503	SO:0001819	synonymous_variant	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30505964A>G	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.1596A>G	19.37:g.30505964A>G						C19orf2_uc002nsq.2_Intron|C19orf2_uc002nss.2_Silent_p.Q492Q|C19orf2_uc002nst.2_Silent_p.Q456Q	p.Q532Q	NM_003796	NP_003787	O94763	RMP_HUMAN	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)	11	1626	+	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	532					A8K805|H7BY42|Q8TC23|Q9UNU3	Silent	SNP	ENST00000542441.2	37	c.1596A>G	CCDS12420.1																																																																																				PASS	0.393	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		24	63	24	63	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30935022	30935022	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr19:30935022C>A	ENST00000355537.3	+	2	700	c.553C>A	c.(553-555)Ctg>Atg	p.L185M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	185					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.L185M(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCTGGGCAACCTGGGCAAGGG	0.667																																						uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(553-555)CTG>ATG		zinc finger protein 536							24.0	20.0	21.0					19																	30935022		2202	4297	6499	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935022C>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.553C>A	19.37:g.30935022C>A	ENSP00000347730:p.Leu185Met					ZNF536_uc010edd.1_Missense_Mutation_p.L185M	p.L185M	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	691	+	Esophageal squamous(110;0.0834)		185					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.553C>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323280	0.60634	.	.	ENSG00000198597	ENST00000355537	T	0.10192	2.9	5.94	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.22936	0.0554	L	0.36672	1.1	0.50313	D	0.999863	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.01162	-1.1432	10	0.36615	T	0.2	-21.3586	14.2409	0.65956	0.0:0.9278:0.0:0.0722	.	185;185	A7E228;O15090	.;ZN536_HUMAN	M	185	ENSP00000347730:L185M	ENSP00000347730:L185M	L	+	1	2	ZNF536	35626862	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.731000	0.68554	1.499000	0.48617	0.561000	0.74099	CTG		PASS	0.667	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		6	13	6	13	---	---	---	---
PEPD	5184	broad.mit.edu	37	19	33902627	33902627	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr19:33902627C>A	ENST00000244137.7	-	11	802	c.769G>T	c.(769-771)Gga>Tga	p.G257*	PEPD_ENST00000436370.3_Nonsense_Mutation_p.G193*|PEPD_ENST00000397032.4_Nonsense_Mutation_p.G216*	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	257					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)	p.G257*(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					CCGGCGTGTCCGTAGTGTAGC	0.597																																						uc002nur.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(769-771)GGA>TGA		prolidase isoform 1							48.0	53.0	52.0					19																	33902627		2034	4171	6205	SO:0001587	stop_gained	5184				cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity	g.chr19:33902627C>A	BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"""prolidase"""	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.769G>T	19.37:g.33902627C>A	ENSP00000244137:p.Gly257*					PEPD_uc010xrr.1_Nonsense_Mutation_p.G216*|PEPD_uc010xrs.1_Nonsense_Mutation_p.G193*	p.G257*	NM_000285	NP_000276	P12955	PEPD_HUMAN			11	904	-	Esophageal squamous(110;0.137)		257					A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Nonsense_Mutation	SNP	ENST00000244137.7	37	c.769G>T	CCDS42544.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475164	0.84640	.	.	ENSG00000124299	ENST00000244137;ENST00000397032;ENST00000436370	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.0637	13.9282	0.63975	0.0:1.0:0.0:0.0	.	.	.	.	X	257;216;193	.	ENSP00000244137:G257X	G	-	1	0	PEPD	38594467	1.000000	0.71417	0.887000	0.34795	0.063000	0.16089	6.020000	0.70826	2.352000	0.79861	0.561000	0.74099	GGA		PASS	0.597	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451432.3	NM_000285		9	14	9	14	---	---	---	---
ZNF30	90075	broad.mit.edu	37	19	35435155	35435155	+	Nonsense_Mutation	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr19:35435155G>T	ENST00000601142.1	+	5	1522	c.1285G>T	c.(1285-1287)Gaa>Taa	p.E429*	ZNF30_ENST00000303586.7_Nonsense_Mutation_p.E430*|ZNF30_ENST00000426813.2_Nonsense_Mutation_p.E348*|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000439785.1_Nonsense_Mutation_p.E430*			P17039	ZNF30_HUMAN	zinc finger protein 30	429					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.E430*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		GAAACCCTATGAATGTAAGGA	0.463																																						uc010edp.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1285-1287)GAA>TAA		zinc finger protein 30 isoform b							57.0	62.0	60.0					19																	35435155		2203	4300	6503	SO:0001587	stop_gained	90075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35435155G>T	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"""Zinc fingers, C2H2-type"", ""-"""	13090	protein-coding gene	gene with protein product			"""zinc finger protein 30 (KOX 28)"""				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.1285G>T	19.37:g.35435155G>T	ENSP00000469954:p.Glu429*					ZNF30_uc002nxf.2_Nonsense_Mutation_p.E348*|ZNF30_uc010edq.1_Nonsense_Mutation_p.E430*|ZNF30_uc010edr.1_Nonsense_Mutation_p.E430*	p.E429*	NM_194325	NP_919306	P17039	ZNF30_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)	5	1663	+	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		429			C2H2-type 12.		A5PLP1|A8K320|B4DIC0|Q6N068	Nonsense_Mutation	SNP	ENST00000601142.1	37	c.1285G>T	CCDS46045.1	.	.	.	.	.	.	.	.	.	.	g	35	5.574753	0.96553	.	.	ENSG00000168661	ENST00000439785;ENST00000303586;ENST00000426813;ENST00000342559	.	.	.	2.57	1.51	0.23008	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	4.7423	0.13020	0.313:0.0:0.6869:0.0	.	.	.	.	X	430;429;348;138	.	ENSP00000303889:E429X	E	+	1	0	ZNF30	40126995	0.000000	0.05858	0.010000	0.14722	0.020000	0.10135	0.082000	0.14847	0.413000	0.25759	-0.357000	0.07601	GAA		PASS	0.463	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		50	41	50	41	---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56565112	56565112	+	Missense_Mutation	SNP	C	C	A	rs61737647	byFrequency	TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr19:56565112C>A	ENST00000390649.3	+	13	3237	c.3237C>A	c.(3235-3237)gaC>gaA	p.D1079E		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1079					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.D1079E(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCCTGGGTGACGGTGGGGTTG	0.612																																						uc002qmj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(3235-3237)GAC>GAA		NACHT, LRR and PYD containing protein 5							88.0	92.0	90.0					19																	56565112		2104	4227	6331	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56565112C>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.3237C>A	19.37:g.56565112C>A	ENSP00000375063:p.Asp1079Glu					NLRP5_uc002qmi.2_Missense_Mutation_p.D1060E	p.D1079E	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	13	3237	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	1079			LRR 12.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.3237C>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.567326	0.45694	.	.	ENSG00000171487	ENST00000390649	T	0.70749	-0.51	3.69	-3.28	0.05033	.	0.000000	0.36444	N	0.002593	T	0.79764	0.4502	M	0.83012	2.62	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71137	-0.4680	10	0.54805	T	0.06	.	8.2926	0.31967	0.0:0.3724:0.0:0.6276	.	1079	P59047	NALP5_HUMAN	E	1079	ENSP00000375063:D1079E	ENSP00000375063:D1079E	D	+	3	2	NLRP5	61256924	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	-0.192000	0.09587	-0.505000	0.06568	-0.140000	0.14226	GAC		PASS	0.612	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		14	16	14	16	---	---	---	---
SNPH	9751	broad.mit.edu	37	20	1277858	1277858	+	Silent	SNP	T	T	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr20:1277858T>A	ENST00000381873.3	+	4	356	c.120T>A	c.(118-120)tcT>tcA	p.S40S	SNPH_ENST00000381867.1_Silent_p.S84S	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	40	Poly-Ser.				brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)	p.S40S(1)|p.S84S(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GCAGCAATTCTGGCTCCTACA	0.637																																						uc002wes.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(118-120)TCT>TCA		syntaphilin							59.0	44.0	49.0					20																	1277858		2203	4300	6503	SO:0001819	synonymous_variant	9751				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	g.chr20:1277858T>A		CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.120T>A	20.37:g.1277858T>A						SNPH_uc002wet.2_Silent_p.S84S	p.S40S	NM_014723	NP_055538	O15079	SNPH_HUMAN			4	356	+			40			Poly-Ser.		Q8IYI3	Silent	SNP	ENST00000381873.3	37	c.120T>A	CCDS13012.1																																																																																				PASS	0.637	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		10	15	10	15	---	---	---	---
RBL1	5933	broad.mit.edu	37	20	35668651	35668651	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr20:35668651C>G	ENST00000373664.3	-	14	1874	c.1808G>C	c.(1807-1809)gGa>gCa	p.G603A	RBL1_ENST00000344359.3_Missense_Mutation_p.G603A	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	603	Pocket; binds T and E1A.|Spacer.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)	p.G603A(1)		NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CTGCACATTTCCTCCATTTCC	0.388																																						uc002xgi.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|skin(3)|ovary(2)	10						c.(1807-1809)GGA>GCA		retinoblastoma-like protein 1 isoform a							115.0	107.0	110.0					20																	35668651		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35668651C>G	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.1808G>C	20.37:g.35668651C>G	ENSP00000362768:p.Gly603Ala					RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.G603A	p.G603A	NM_002895	NP_002886	P28749	RBL1_HUMAN			14	1887	-		Myeloproliferative disorder(115;0.00878)	603			Pocket; binds T and E1A.|Spacer.		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.1808G>C	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	C	1.251	-0.618538	0.03663	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.92199	-2.76;-2.99	4.89	3.91	0.45181	.	0.303991	0.30244	N	0.010080	T	0.82254	0.4997	N	0.17674	0.51	0.35300	D	0.782939	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.75797	-0.3191	10	0.08381	T	0.77	-10.778	9.259	0.37601	0.2904:0.5687:0.1409:0.0	.	603;603	P28749-2;P28749	.;RBL1_HUMAN	A	603	ENSP00000362768:G603A;ENSP00000343646:G603A	ENSP00000343646:G603A	G	-	2	0	RBL1	35102065	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.539000	0.36104	1.342000	0.45619	0.650000	0.86243	GGA		PASS	0.388	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		35	25	35	25	---	---	---	---
OSER1	51526	broad.mit.edu	37	20	42825791	42825791	+	Missense_Mutation	SNP	G	G	C	rs201808278		TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr20:42825791G>C	ENST00000372970.2	-	6	960	c.780C>G	c.(778-780)ttC>ttG	p.F260L	OSER1_ENST00000255174.2_Missense_Mutation_p.F260L			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	260					cellular response to hydrogen peroxide (GO:0070301)			p.F260L(1)									CATCATCCACGAAGACTCGAG	0.493																																						uc002xlk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(778-780)TTC>TTG		oxidative stress responsive 1							117.0	108.0	111.0					20																	42825791		2203	4300	6503	SO:0001583	missense	51526							g.chr20:42825791G>C	AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"""peroxide-inducible transcript 1"", ""oxidative stress-responsive 1"""		"""chromosome 20 open reading frame 111"""	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.780C>G	20.37:g.42825791G>C	ENSP00000362061:p.Phe260Leu						p.F260L	NM_016470	NP_057554	Q9NX31	CT111_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		4	917	-		Myeloproliferative disorder(115;0.028)	260					B2RCK4|O95912|Q9NZ84|Q9P0R8	Missense_Mutation	SNP	ENST00000372970.2	37	c.780C>G	CCDS13327.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079213	0.36662	.	.	ENSG00000132823	ENST00000255174;ENST00000372970	T;T	0.40756	1.02;1.02	6.03	-1.41	0.08941	.	0.252433	0.41097	D	0.000957	T	0.18759	0.0450	N	0.08118	0	0.29501	N	0.854919	B	0.15719	0.014	B	0.17433	0.018	T	0.07597	-1.0764	10	0.51188	T	0.08	-5.3207	6.9218	0.24393	0.4659:0.0:0.4158:0.1183	.	260	Q9NX31	CT111_HUMAN	L	260	ENSP00000255174:F260L;ENSP00000362061:F260L	ENSP00000255174:F260L	F	-	3	2	C20orf111	42259205	1.000000	0.71417	0.988000	0.46212	0.989000	0.77384	1.479000	0.35453	-0.289000	0.09038	-0.294000	0.09567	TTC		PASS	0.493	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2	NM_016470		25	19	25	19	---	---	---	---
TTC3	7267	broad.mit.edu	37	21	38568325	38568325	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr21:38568325C>G	ENST00000399017.2	+	42	8314	c.5567C>G	c.(5566-5568)cCa>cGa	p.P1856R	TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000355666.1_Missense_Mutation_p.P1856R|TTC3_ENST00000354749.2_Missense_Mutation_p.P1856R|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1856					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P1856R(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GTGGTATTCCCATGTTACAAC	0.428																																					Ovarian(38;194 1649 35661)	uc002yvz.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|lung(2)|breast(2)	9						c.(5566-5568)CCA>CGA		tetratricopeptide repeat domain 3							45.0	54.0	51.0					21																	38568325		2203	4299	6502	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38568325C>G	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.5567C>G	21.37:g.38568325C>G	ENSP00000381981:p.Pro1856Arg					TTC3_uc002ywa.2_Missense_Mutation_p.P1856R|TTC3_uc002ywb.2_Missense_Mutation_p.P1856R|TTC3_uc010gnf.2_Missense_Mutation_p.P1621R|TTC3_uc002ywc.2_Missense_Mutation_p.P1546R	p.P1856R	NM_001001894	NP_001001894	P53804	TTC3_HUMAN			42	5672	+		Myeloproliferative disorder(46;0.0412)	1856					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.5567C>G	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593014	0.66219	.	.	ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749	T;T;T	0.27104	1.69;1.69;1.69	4.34	4.34	0.51931	.	0.000000	0.64402	D	0.000003	T	0.50650	0.1628	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56177	-0.8022	10	0.87932	D	0	-11.3003	12.7028	0.57043	0.0:1.0:0.0:0.0	.	1856	P53804	TTC3_HUMAN	R	1856	ENSP00000347889:P1856R;ENSP00000381981:P1856R;ENSP00000346791:P1856R	ENSP00000346791:P1856R	P	+	2	0	TTC3	37490195	0.993000	0.37304	0.888000	0.34837	0.849000	0.48306	3.952000	0.56691	2.131000	0.65755	0.467000	0.42956	CCA		PASS	0.428	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			8	27	8	27	---	---	---	---
KCNJ15	3772	broad.mit.edu	37	21	39672221	39672221	+	Silent	SNP	T	T	C			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr21:39672221T>C	ENST00000328656.4	+	4	1341	c.1038T>C	c.(1036-1038)tcT>tcC	p.S346S	KCNJ15_ENST00000398938.2_Silent_p.S346S|KCNJ15_ENST00000398934.1_Silent_p.S346S|KCNJ15_ENST00000398930.1_Silent_p.S346S|KCNJ15_ENST00000398932.1_Silent_p.S346S	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	346					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.S346S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	GTGCAGATTCTGAGAAACAGC	0.438																																						uc002ywv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						c.(1036-1038)TCT>TCC		potassium inwardly-rectifying channel J15							56.0	58.0	57.0					21																	39672221		2203	4300	6503	SO:0001819	synonymous_variant	3772				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	g.chr21:39672221T>C	Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.1038T>C	21.37:g.39672221T>C						KCNJ15_uc002yww.2_Silent_p.S346S|KCNJ15_uc002ywx.2_Silent_p.S346S	p.S346S	NM_002243	NP_002234	Q99712	IRK15_HUMAN			4	1340	+			346			Cytoplasmic (By similarity).		D3DSH5|O00564|Q96L28|Q99446	Silent	SNP	ENST00000328656.4	37	c.1038T>C	CCDS13656.1																																																																																				PASS	0.438	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243		20	31	20	31	---	---	---	---
PCNT	5116	broad.mit.edu	37	21	47746346	47746346	+	Missense_Mutation	SNP	A	A	G			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr21:47746346A>G	ENST00000359568.5	+	2	217	c.110A>G	c.(109-111)aAg>aGg	p.K37R	C21orf58_ENST00000397682.3_5'Flank|PCNT_ENST00000480896.1_3'UTR|C21orf58_ENST00000397680.1_5'Flank|C21orf58_ENST00000397685.4_5'Flank|C21orf58_ENST00000291691.7_5'Flank	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	37					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.K37R(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TCGGAGAAAAAGACGGCGAAG	0.512																																						uc002zji.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|pancreas(2)	8						c.(109-111)AAG>AGG		pericentrin							89.0	77.0	81.0					21																	47746346		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47746346A>G	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.110A>G	21.37:g.47746346A>G	ENSP00000352572:p.Lys37Arg					PCNT_uc002zjj.2_5'UTR|C21orf58_uc011afx.1_5'Flank|C21orf58_uc002zjf.2_5'Flank|C21orf58_uc010gqj.1_5'Flank|C21orf58_uc002zjg.1_5'Flank	p.K37R	NM_006031	NP_006022	O95613	PCNT_HUMAN			2	217	+	Breast(49;0.112)		37					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.110A>G	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.553396	0.86127	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.03386	3.95	5.18	4.02	0.46733	.	0.000000	0.33813	N	0.004525	T	0.12603	0.0306	L	0.59436	1.845	0.29830	N	0.830103	D	0.89917	1.0	D	0.69654	0.965	T	0.01228	-1.1412	10	0.46703	T	0.11	.	11.5502	0.50716	0.8402:0.1598:0.0:0.0	.	37	O95613	PCNT_HUMAN	R	37	ENSP00000352572:K37R	ENSP00000338675:K37R	K	+	2	0	PCNT	46570774	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.082000	0.64450	0.793000	0.33875	0.379000	0.24179	AAG		PASS	0.512	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		17	28	17	28	---	---	---	---
CERK	64781	broad.mit.edu	37	22	47085971	47085971	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr22:47085971G>T	ENST00000216264.8	-	12	1571	c.1459C>A	c.(1459-1461)Cac>Aac	p.H487N	CERK_ENST00000541677.1_Missense_Mutation_p.H289N|CERK_ENST00000471929.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	487					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)	p.H487N(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGGAGGGGTGGCTGCTGCAA	0.612																																						uc003bia.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1459-1461)CAC>AAC		ceramide kinase							69.0	52.0	58.0					22																	47085971		2203	4300	6503	SO:0001583	missense	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47085971G>T	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.1459C>A	22.37:g.47085971G>T	ENSP00000216264:p.His487Asn					CERK_uc010hae.2_Missense_Mutation_p.H289N	p.H487N	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	12	1566	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	487					A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	ENST00000216264.8	37	c.1459C>A	CCDS14077.1	.	.	.	.	.	.	.	.	.	.	g	6.669	0.491916	0.12702	.	.	ENSG00000100422	ENST00000216264;ENST00000541677	T;T	0.28666	2.31;1.6	5.02	4.0	0.46444	.	0.882158	0.10107	N	0.715176	T	0.19485	0.0468	N	0.17379	0.485	0.09310	N	0.999995	B	0.02656	0.0	B	0.06405	0.002	T	0.23190	-1.0195	10	0.12766	T	0.61	-14.3708	11.8425	0.52364	0.0:0.0:0.7689:0.2311	.	487	Q8TCT0	CERK1_HUMAN	N	487;289	ENSP00000216264:H487N;ENSP00000438659:H289N	ENSP00000216264:H487N	H	-	1	0	CERK	45464635	0.699000	0.27786	0.001000	0.08648	0.004000	0.04260	1.986000	0.40677	0.975000	0.38392	0.561000	0.74099	CAC		PASS	0.612	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		10	22	10	22	---	---	---	---
WWC3	55841	broad.mit.edu	37	X	10096089	10096089	+	Missense_Mutation	SNP	A	A	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chrX:10096089A>T	ENST00000380861.4	+	16	2559	c.2168A>T	c.(2167-2169)cAt>cTt	p.H723L	WWC3_ENST00000454666.1_Missense_Mutation_p.H723L	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	723					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.H723L(1)		NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CTGCGCTGGCATTCCGTGCAG	0.562																																						uc004csx.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2167-2169)CAT>CTT		WWC family member 3							102.0	91.0	95.0					X																	10096089		2203	4300	6503	SO:0001583	missense	55841							g.chrX:10096089A>T	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2168A>T	X.37:g.10096089A>T	ENSP00000370242:p.His723Leu					WWC3_uc010nds.2_Missense_Mutation_p.H387L|WWC3_uc010ndt.2_RNA	p.H723L	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN			16	2366	+			723					A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	c.2168A>T	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	A	12.62	1.992215	0.35131	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.04194	3.68;3.68	5.88	3.46	0.39613	C2 calcium/lipid-binding domain, CaLB (1);	0.311639	0.36134	N	0.002770	T	0.02012	0.0063	N	0.02539	-0.55	0.25152	N	0.990416	B	0.02656	0.0	B	0.04013	0.001	T	0.48031	-0.9070	9	.	.	.	-12.2503	9.4622	0.38792	0.8544:0.0:0.1456:0.0	.	723	Q9ULE0	WWC3_HUMAN	L	723;723;218	ENSP00000370242:H723L;ENSP00000399584:H723L	.	H	+	2	0	WWC3	10056089	0.999000	0.42202	0.451000	0.26982	0.646000	0.38490	4.212000	0.58514	0.320000	0.23234	0.486000	0.48141	CAT		PASS	0.562	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		34	8	34	8	---	---	---	---
FAM47C	442444	broad.mit.edu	37	X	37026510	37026510	+	Silent	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chrX:37026510G>T	ENST00000358047.3	+	1	79	c.27G>T	c.(25-27)cgG>cgT	p.R9R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	9								p.R9R(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						CGCAGGACCGGCCCAGTTCCC	0.657																																						uc004ddl.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(25-27)CGG>CGT		hypothetical protein LOC442444							17.0	17.0	17.0					X																	37026510		2200	4298	6498	SO:0001819	synonymous_variant	442444							g.chrX:37026510G>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.27G>T	X.37:g.37026510G>T							p.R9R	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	41	+			9					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.27G>T	CCDS35227.1																																																																																				PASS	0.657	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		7	2	7	2	---	---	---	---
SYN1	6853	broad.mit.edu	37	X	47464427	47464427	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chrX:47464427C>T	ENST00000295987.7	-	5	848	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	SYN1_ENST00000340666.4_Missense_Mutation_p.E242K	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	242	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of neurotransmitter secretion (GO:0046928)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)	p.E242K(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						GGGAATTCTTCTGTCCCCAGT	0.458																																						uc004die.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(724-726)GAA>AAA		synapsin I isoform Ia							128.0	104.0	112.0					X																	47464427		2203	4300	6503	SO:0001583	missense	6853					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity	g.chrX:47464427C>T		CCDS14280.1, CCDS35233.1	Xp11.2	2012-10-02			ENSG00000008056	ENSG00000008056			11494	protein-coding gene	gene with protein product		313440					Standard	NM_133499		Approved		uc004die.3	P17600	OTTHUMG00000021454	ENST00000295987.7:c.724G>A	X.37:g.47464427C>T	ENSP00000295987:p.Glu242Lys					SYN1_uc004did.2_Missense_Mutation_p.E242K	p.E242K	NM_006950	NP_008881	P17600	SYN1_HUMAN			5	853	-			242			C; actin-binding and synaptic-vesicle binding.		B1AJQ1|O75825|Q5H9A9	Missense_Mutation	SNP	ENST00000295987.7	37	c.724G>A	CCDS14280.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160592	0.78226	.	.	ENSG00000008056	ENST00000295987;ENST00000340666	T;T	0.36520	1.68;1.25	4.88	4.88	0.63580	ATP-grasp fold, subdomain 2 (1);Synapsin, ATP-binding domain (1);	0.164598	0.38605	N	0.001639	T	0.40570	0.1122	M	0.75777	2.31	0.80722	D	1	P;P	0.39883	0.614;0.693	B;B	0.37015	0.174;0.239	T	0.47535	-0.9110	10	0.54805	T	0.06	-19.8361	14.7378	0.69430	0.0:1.0:0.0:0.0	.	242;242	P17600;P17600-2	SYN1_HUMAN;.	K	242	ENSP00000295987:E242K;ENSP00000343206:E242K	ENSP00000295987:E242K	E	-	1	0	SYN1	47349371	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.620000	0.67736	2.152000	0.67230	0.544000	0.68410	GAA		PASS	0.458	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056445.1	NM_006950		11	3	11	3	---	---	---	---
ZC4H2	55906	broad.mit.edu	37	X	64137714	64137714	+	Silent	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chrX:64137714G>T	ENST00000374839.3	-	5	730	c.624C>A	c.(622-624)gcC>gcA	p.A208A	ZC4H2_ENST00000447788.2_Missense_Mutation_p.P154Q|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Silent_p.A185A|ZC4H2_ENST00000545618.1_Silent_p.A203A	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	208					nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)	p.P154Q(1)|p.A208A(1)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACCGACTCTTGGCCTTGCAAA	0.483																																						uc004dvu.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)	1						c.(622-624)GCC>GCA		zinc finger, C4H2 domain containing							137.0	92.0	107.0					X																	64137714		2203	4300	6503	SO:0001819	synonymous_variant	55906						metal ion binding|protein binding	g.chrX:64137714G>T	AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"""Zinc fingers"""	24931	protein-coding gene	gene with protein product		300897	"""KIAA1166"", ""Wieacker-Wolff syndrome"""	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.624C>A	X.37:g.64137714G>T						ZC4H2_uc004dvv.2_Silent_p.A185A|ZC4H2_uc011mov.1_Silent_p.A185A|ZC4H2_uc011mow.1_Missense_Mutation_p.P154Q|ZC4H2_uc004dvw.1_3'UTR	p.A208A	NM_018684	NP_061154	Q9NQZ6	ZC4H2_HUMAN			5	712	-			208					B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Silent	SNP	ENST00000374839.3	37	c.624C>A	CCDS14380.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937055	0.52972	.	.	ENSG00000126970	ENST00000447788	.	.	.	5.42	2.66	0.31614	.	.	.	.	.	T	0.57315	0.2045	.	.	.	0.80722	D	1	P	0.35908	0.527	P	0.44623	0.455	T	0.53330	-0.8454	7	0.56958	D	0.05	.	6.8236	0.23870	0.1697:0.1417:0.6886:0.0	.	154	B4DED0	.	Q	154	.	ENSP00000399126:P154Q	P	-	2	0	ZC4H2	64054439	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.282000	0.33226	0.190000	0.20209	0.594000	0.82650	CCA		PASS	0.483	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1	NM_018684		6	9	6	9	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73069537	73069537	+	lincRNA	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chrX:73069537G>T	ENST00000429829.1	-	0	3051					NR_001564.2				X inactive specific transcript (non-protein coding)																		CTGAAGATCAGCAATGCCAAG	0.383																																						uc004ebm.1																			0					0								Homo sapiens cDNA: FLJ21545 fis, clone COL06195.							51.0	47.0	48.0					X																	73069537		876	1990	2866			7503							g.chrX:73069537G>T	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73069537G>T								NR_001564						1		-									RNA	SNP	ENST00000429829.1	37	c.3052C>A																																																																																					PASS	0.383	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		11	10	11	10	---	---	---	---
APOOL	139322	broad.mit.edu	37	X	84310882	84310882	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chrX:84310882G>T	ENST00000373173.2	+	5	432	c.345G>T	c.(343-345)atG>atT	p.M115I		NM_198450.5	NP_940852.3	Q6UXV4	MIC27_HUMAN	apolipoprotein O-like	115						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.M115I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						TTCCGAAAATGGGAGTTATTA	0.343																																						uc004eem.2																			1	Substitution - Missense(1)		lung(1)		0						c.(343-345)ATG>ATT		apolipoprotein O-like precursor							52.0	44.0	47.0					X																	84310882		1791	4059	5850	SO:0001583	missense	139322					extracellular region		g.chrX:84310882G>T	AK130506	CCDS48138.1	Xq21.1	2007-01-17	2007-01-17	2007-01-17	ENSG00000155008	ENSG00000155008			24009	protein-coding gene	gene with protein product			"""chromosome X open reading frame 33"", ""family with sequence similarity 121A"""	CXorf33, FAM121A		12975309	Standard	NM_198450		Approved	UNQ8193, AAIR8193	uc004eem.3	Q6UXV4	OTTHUMG00000021930	ENST00000373173.2:c.345G>T	X.37:g.84310882G>T	ENSP00000362268:p.Met115Ile					APOOL_uc010nmp.2_Intron	p.M115I	NM_198450	NP_940852	Q6UXV4	APOOL_HUMAN			5	359	+			115					Q3KNU7|Q5H9D1	Missense_Mutation	SNP	ENST00000373173.2	37	c.345G>T	CCDS48138.1	.	.	.	.	.	.	.	.	.	.	G	9.195	1.027095	0.19512	.	.	ENSG00000155008	ENST00000373173;ENST00000373169	.	.	.	5.56	0.871	0.19107	.	0.570712	0.20369	N	0.093700	T	0.14141	0.0342	N	0.05124	-0.11	0.26407	N	0.976326	B	0.02656	0.0	B	0.04013	0.001	T	0.31806	-0.9930	9	0.08599	T	0.76	-7.802	8.8221	0.35032	0.0:0.084:0.4857:0.4304	.	115	Q6UXV4	APOOL_HUMAN	I	115	.	ENSP00000362264:M115I	M	+	3	0	APOOL	84197538	0.995000	0.38212	0.984000	0.44739	0.749000	0.42624	0.224000	0.17738	0.022000	0.15160	0.600000	0.82982	ATG		PASS	0.343	APOOL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057385.2	NM_198450		3	5	3	5	---	---	---	---
SATL1	340562	broad.mit.edu	37	X	84362449	84362449	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chrX:84362449G>C	ENST00000395409.3	-	1	1525	c.965C>G	c.(964-966)cCa>cGa	p.P322R	SATL1_ENST00000332921.5_Missense_Mutation_p.P322R|SATL1_ENST00000509231.1_Missense_Mutation_p.P509R			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	322	Gln-rich.						N-acetyltransferase activity (GO:0008080)	p.P509R(1)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GCTCCTGCCTGGTTGACTCAG	0.542																																						uc011mqx.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1525-1527)CCA>CGA		spermidine/spermine N1-acetyl transferase-like 1							129.0	108.0	115.0					X																	84362449		2203	4300	6503	SO:0001583	missense	340562						N-acetyltransferase activity	g.chrX:84362449G>C	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.965C>G	X.37:g.84362449G>C	ENSP00000378804:p.Pro322Arg					SATL1_uc004een.2_Missense_Mutation_p.P509R	p.P509R	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN			1	1526	-			322			Gln-rich.		A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	ENST00000395409.3	37	c.1526C>G		.	.	.	.	.	.	.	.	.	.	G	12.04	1.819295	0.32145	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	T;T;T	0.38077	1.16;1.16;1.16	3.39	-0.541	0.11858	.	.	.	.	.	T	0.45256	0.1333	M	0.64404	1.975	0.09310	N	1	D;D	0.76494	0.999;0.991	D;P	0.66196	0.942;0.901	T	0.42344	-0.9457	9	0.09843	T	0.71	-0.9452	7.3958	0.26936	0.4706:0.0:0.5294:0.0	.	322;509	Q86VE3;E9PB72	SATL1_HUMAN;.	R	322;322;509	ENSP00000378804:P322R;ENSP00000329115:P322R;ENSP00000425421:P509R	ENSP00000329115:P322R	P	-	2	0	SATL1	84249105	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.194000	0.09559	-0.248000	0.09583	-0.208000	0.12717	CCA		PASS	0.542	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		22	12	22	12	---	---	---	---
TEX13A	56157	broad.mit.edu	37	X	104464730	104464730	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chrX:104464730G>T	ENST00000413579.1	-	2	463	c.352C>A	c.(352-354)Cag>Aag	p.Q118K	TEX13A_ENST00000372575.1_Missense_Mutation_p.Q118K|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.Q118K|IL1RAPL2_ENST00000344799.4_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	118							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TCCGTCTCCTGCTGCTCCCTG	0.607																																						uc004ema.2																			0				ovary(2)	2						c.(352-354)CAG>AAG		testis expressed sequence 13A							34.0	35.0	35.0					X																	104464730		2162	4240	6402	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104464730G>T	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.352C>A	X.37:g.104464730G>T	ENSP00000399753:p.Gln118Lys					IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.Q118K	p.Q118K	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN			2	464	-			118					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.352C>A		.	.	.	.	.	.	.	.	.	.	G	6.355	0.433533	0.12045	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	2.84	0.969	0.19686	.	0.257134	0.20583	N	0.089491	T	0.26810	0.0656	.	.	.	0.09310	N	1	B;B	0.19445	0.036;0.036	B;B	0.17979	0.02;0.02	T	0.15896	-1.0421	8	0.52906	T	0.07	.	4.8713	0.13635	0.0:0.2342:0.5216:0.2442	.	118;118	C9JWK0;Q9BXU3	.;TX13A_HUMAN	K	118	.	ENSP00000361656:Q118K	Q	-	1	0	TEX13A	104351386	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	0.380000	0.20602	0.132000	0.18615	-0.329000	0.08387	CAG		PASS	0.607	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		10	5	10	5	---	---	---	---
CT83	203413	broad.mit.edu	37	X	115593951	115593951	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chrX:115593951G>A	ENST00000371894.4	-	1	213	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN		23						integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R23C(1)		breast(1)|large_intestine(3)|lung(8)	12						ACCTGAAAGCGGCGATATTTC	0.418																																						uc004eqj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(67-69)CGC>TGC		chromosome X open reading frame 61							179.0	147.0	157.0					X																	115593951		2203	4300	6503	SO:0001583	missense	203413					integral to membrane|plasma membrane		g.chrX:115593951G>A																												ENST00000371894.4:c.67C>T	X.37:g.115593951G>A	ENSP00000360961:p.Arg23Cys						p.R23C	NM_001017978	NP_001017978	Q5H943	KKLC1_HUMAN			1	187	-			23			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000371894.4	37	c.67C>T	CCDS35372.1	.	.	.	.	.	.	.	.	.	.	G	8.963	0.971062	0.18659	.	.	ENSG00000204019	ENST00000371894	.	.	.	0.109	0.109	0.14578	.	1.121610	0.07120	N	0.843750	T	0.40791	0.1131	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.66196	0.942	T	0.36601	-0.9741	8	0.62326	D	0.03	1.7425	.	.	.	.	23	Q5H943	KKLC1_HUMAN	C	23	.	ENSP00000360961:R23C	R	-	1	0	CXorf61	115507979	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.370000	0.20433	0.168000	0.19655	0.171000	0.16805	CGC		PASS	0.418	CXorf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057985.1			48	25	48	25	---	---	---	---
OCRL	4952	broad.mit.edu	37	X	128723821	128723821	+	Splice_Site	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chrX:128723821G>T	ENST00000371113.4	+	23	2634		c.e23-1		OCRL_ENST00000357121.5_Splice_Site	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe						cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.?(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TTTAAAAACAGGTGATCTCCC	0.403																																						uc004euq.2																			1	Unknown(1)		lung(1)	lung(2)|ovary(1)|kidney(1)	4						c.e23-1		phosphatidylinositol polyphosphate 5-phosphatase							69.0	63.0	65.0					X																	128723821		2203	4300	6503	SO:0001630	splice_region_variant	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128723821G>T	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2470-1G>T	X.37:g.128723821G>T						OCRL_uc004eur.2_Splice_Site_p.V816_splice|OCRL_uc010nrb.2_Intron	p.V824_splice	NM_000276	NP_000267	Q01968	OCRL_HUMAN			23	2635	+								A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Splice_Site	SNP	ENST00000371113.4	37	c.2470_splice	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080187	0.76528	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3293	0.87258	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OCRL	128551502	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.577000	0.90773	2.304000	0.77564	0.529000	0.55759	.		PASS	0.403	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276	Intron	33	13	33	13	---	---	---	---
ZNF449	203523	broad.mit.edu	37	X	134494173	134494173	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chrX:134494173G>T	ENST00000339249.4	+	5	869	c.729G>T	c.(727-729)gaG>gaT	p.E243D		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	243					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.E243D(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAAATGGAGACTATGTATC	0.373																																						uc004eys.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(727-729)GAG>GAT		zinc finger protein 449							45.0	48.0	47.0					X																	134494173		2192	4250	6442	SO:0001583	missense	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134494173G>T	AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.729G>T	X.37:g.134494173G>T	ENSP00000339585:p.Glu243Asp					ZNF449_uc004eyt.2_Missense_Mutation_p.E123D|ZNF449_uc004eyu.2_Missense_Mutation_p.E49D	p.E243D	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN			5	894	+	Acute lymphoblastic leukemia(192;6.56e-05)		243					Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	ENST00000339249.4	37	c.729G>T	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	G	8.480	0.859650	0.17178	.	.	ENSG00000173275	ENST00000339249	T	0.06449	3.3	4.85	0.0371	0.14195	.	0.000000	0.41396	D	0.000897	T	0.06462	0.0166	N	0.24115	0.695	0.18873	N	0.999983	D	0.61697	0.99	P	0.54544	0.755	T	0.33343	-0.9872	10	0.31617	T	0.26	.	5.015	0.14331	0.3767:0.1502:0.4731:0.0	.	243	Q6P9G9	ZN449_HUMAN	D	243	ENSP00000339585:E243D	ENSP00000339585:E243D	E	+	3	2	ZNF449	134321839	0.000000	0.05858	0.044000	0.18714	0.909000	0.53808	0.098000	0.15189	0.008000	0.14787	-0.312000	0.09012	GAG		PASS	0.373	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		51	15	51	15	---	---	---	---
MCF2	4168	broad.mit.edu	37	X	138699860	138699860	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chrX:138699860G>T	ENST00000370576.4	-	8	1020	c.811C>A	c.(811-813)Cta>Ata	p.L271I	MCF2_ENST00000414978.1_Missense_Mutation_p.L331I|MCF2_ENST00000519895.1_Missense_Mutation_p.L331I|MCF2_ENST00000483690.1_5'Flank|MCF2_ENST00000338585.6_Missense_Mutation_p.L271I|MCF2_ENST00000536274.1_Missense_Mutation_p.L232I|MCF2_ENST00000370578.4_Missense_Mutation_p.L416I|MCF2_ENST00000520602.1_Missense_Mutation_p.L331I|MCF2_ENST00000370573.4_Missense_Mutation_p.L271I	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	271					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L271I(2)|p.L331I(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTTGATAATAGCTCCTGATTA	0.343																																						uc004fau.2																			3	Substitution - Missense(3)		lung(3)	lung(1)|pleura(1)	2						c.(811-813)CTA>ATA		MCF.2 cell line derived transforming sequence							140.0	131.0	134.0					X																	138699860		2202	4300	6502	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138699860G>T		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.811C>A	X.37:g.138699860G>T	ENSP00000359608:p.Leu271Ile					MCF2_uc004fav.2_Missense_Mutation_p.L271I|MCF2_uc011mwl.1_Missense_Mutation_p.L232I|MCF2_uc010nsh.1_Missense_Mutation_p.L271I|MCF2_uc011mwm.1_Missense_Mutation_p.L232I|MCF2_uc011mwn.1_Missense_Mutation_p.L416I|MCF2_uc004faw.2_Missense_Mutation_p.L331I|MCF2_uc011mwo.1_Missense_Mutation_p.L331I	p.L271I	NM_005369	NP_005360	P10911	MCF2_HUMAN			8	1105	-	Acute lymphoblastic leukemia(192;0.000127)		271			Spectrin.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.811C>A	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	G	9.240	1.038048	0.19669	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.76	1.89	0.25635	.	0.384669	0.26658	N	0.023172	T	0.44286	0.1286	M	0.67953	2.075	0.09310	N	0.999998	B;P;B;B;P;B;P;P	0.51351	0.157;0.908;0.243;0.157;0.65;0.157;0.944;0.518	B;P;B;B;B;B;P;B	0.56343	0.186;0.471;0.343;0.186;0.343;0.186;0.796;0.186	T	0.18461	-1.0336	10	0.36615	T	0.2	.	5.3296	0.15924	0.3:0.1429:0.5571:0.0	.	331;416;232;271;271;416;271;271	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	I	331;271;232;416;331;331;271;271	ENSP00000427745:L331I;ENSP00000359608:L271I;ENSP00000438155:L232I;ENSP00000359610:L416I;ENSP00000397055:L331I;ENSP00000430276:L331I;ENSP00000359605:L271I;ENSP00000342204:L271I	ENSP00000342204:L271I	L	-	1	2	MCF2	138527526	0.638000	0.27225	0.049000	0.19019	0.363000	0.29612	1.060000	0.30530	0.541000	0.28827	0.544000	0.68410	CTA		PASS	0.343	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		61	31	61	31	---	---	---	---
SLITRK4	139065	broad.mit.edu	37	X	142718645	142718645	+	Nonsense_Mutation	SNP	T	T	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chrX:142718645T>A	ENST00000381779.4	-	2	505	c.280A>T	c.(280-282)Aaa>Taa	p.K94*	SLITRK4_ENST00000338017.4_Nonsense_Mutation_p.K94*|SLITRK4_ENST00000356928.1_Nonsense_Mutation_p.K94*	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	94						integral component of membrane (GO:0016021)		p.K94*(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGCAGTTTATTATTCCCC	0.358																																						uc004fbx.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(280-282)AAA>TAA		slit and trk like 4 protein precursor							57.0	57.0	57.0					X																	142718645		2203	4299	6502	SO:0001587	stop_gained	139065					integral to membrane		g.chrX:142718645T>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.280A>T	X.37:g.142718645T>A	ENSP00000371198:p.Lys94*					SLITRK4_uc004fby.2_Nonsense_Mutation_p.K94*	p.K94*	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	656	-	Acute lymphoblastic leukemia(192;6.56e-05)		94			Extracellular (Potential).|LRR 2.		Q5JXG3|Q8TCM8|Q96DL3	Nonsense_Mutation	SNP	ENST00000381779.4	37	c.280A>T	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	T	36	5.721140	0.96839	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	.	.	.	5.61	5.61	0.85477	.	0.051344	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.2463	13.5168	0.61545	0.0:0.0:0.0:1.0	.	.	.	.	X	94	.	ENSP00000336627:K94X	K	-	1	0	SLITRK4	142546311	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.167000	0.64972	1.876000	0.54355	0.486000	0.48141	AAA		PASS	0.358	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		32	18	32	18	---	---	---	---
CNGA2	1260	broad.mit.edu	37	X	150911817	150911817	+	Missense_Mutation	SNP	A	A	G	rs375317479		TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chrX:150911817A>G	ENST00000329903.4	+	6	875	c.842A>G	c.(841-843)tAc>tGc	p.Y281C		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	281					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 cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.Y281C(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGTCCTCTACATCTTGGTC	0.502																																						uc004fey.1																			1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(841-843)TAC>TGC		cyclic nucleotide gated channel alpha 2							186.0	152.0	163.0					X																	150911817		2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150911817A>G	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.842A>G	X.37:g.150911817A>G	ENSP00000328478:p.Tyr281Cys						p.Y281C	NM_005140	NP_005131	Q16280	CNGA2_HUMAN			7	1066	+	Acute lymphoblastic leukemia(192;6.56e-05)		281			Helical; Name=H4; (Potential).		A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.842A>G	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.955066	0.53293	.	.	ENSG00000183862	ENST00000329903	D	0.97089	-4.24	5.09	5.09	0.68999	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98848	0.9611	H	0.96365	3.81	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	D	0.99441	1.0938	10	0.87932	D	0	.	11.9323	0.52853	1.0:0.0:0.0:0.0	.	281	Q16280	CNGA2_HUMAN	C	281	ENSP00000328478:Y281C	ENSP00000328478:Y281C	Y	+	2	0	CNGA2	150662473	1.000000	0.71417	0.997000	0.53966	0.881000	0.50899	8.910000	0.92685	1.790000	0.52503	0.486000	0.48141	TAC		PASS	0.502	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		44	24	44	24	---	---	---	---
IL9R	3581	broad.mit.edu	37	X	155235767	155235767	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chrX:155235767G>C	ENST00000244174.5	+	7	980	c.801G>C	c.(799-801)tgG>tgC	p.W267C	IL9R_ENST00000424344.3_Missense_Mutation_p.W246C|IL9R_ENST00000540897.1_Missense_Mutation_p.W292C|IL9R_ENST00000369423.2_Missense_Mutation_p.W302C	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	267					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)	p.W267C(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCCCACCCTGGGGGTGGCCAG	0.642																																						uc004fnv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(799-801)TGG>TGC		interleukin 9 receptor precursor							43.0	39.0	41.0					X																	155235767		2203	4295	6498	SO:0001583	missense	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155235767G>C	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.801G>C	X.37:g.155235767G>C	ENSP00000244174:p.Trp267Cys					IL9R_uc010nvn.2_Missense_Mutation_p.W246C|IL9R_uc004fnu.1_Missense_Mutation_p.W302C	p.W267C	NM_002186	NP_002177	Q01113	IL9R_HUMAN			7	980	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		267			Extracellular (Potential).		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	c.801G>C	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	.	6.378	0.437785	0.12104	.	.	ENSG00000124334	ENST00000244174;ENST00000424344;ENST00000455739;ENST00000369423;ENST00000540897	T;T;T;T	0.25085	2.83;2.83;1.82;1.82	1.57	-0.605	0.11623	.	1.517260	0.04181	N	0.326519	T	0.22282	0.0537	.	.	.	0.09310	N	0.999999	P;D;P	0.58970	0.921;0.984;0.953	B;P;P	0.46452	0.306;0.517;0.481	T	0.11494	-1.0585	9	0.38643	T	0.18	-31.1507	2.6028	0.04870	0.2274:0.3114:0.4612:0.0	.	246;267;302	F5H3Z0;Q01113;B9ZVT0	.;IL9R_HUMAN;.	C	267;246;246;302;292	ENSP00000244174:W267C;ENSP00000388918:W246C;ENSP00000358431:W302C;ENSP00000438112:W292C	ENSP00000244174:W267C	W	+	3	0	IL9R	154888961	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.188000	0.17018	-0.252000	0.09528	0.287000	0.19450	TGG		PASS	0.642	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		9	19	9	19	---	---	---	---
LINC00869	57234	broad.mit.edu	37	1	149281933	149281934	+	lincRNA	INS	-	-	AGT	rs68002228|rs150270984	byFrequency	TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr1:149281933_149281934insAGT	ENST00000424684.1	+	0	0					NR_046136.1|NR_046138.1|NR_046139.1																						AAGATCTGTTGAGTAGGAACAT	0.342														2391	0.477436	0.4773	0.487	5008	,	,		58388	0.4613		0.4712	False		,,,				2504	0.4939					uc010pbf.1																			0					0								Homo sapiens cDNA FLJ13580 fis, clone PLACE1008851.																																						388692							g.chr1:149281933_149281934insAGT																													1.37:g.149281934_149281936dupAGT								NR_027002						1		+									RNA	INS	ENST00000424684.1	37	c.2458_2459insAGT																																																																																						0.342	RP11-403I13.7-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000099630.1			5	3	5	3	---	---	---	---
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677	byFrequency	TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_ENST00000347849.3_In_Frame_Del_p.TG271del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	378				Missing (in Ref. 1; CAA56105). {ECO:0000305}.	peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777														1724	0.344249	0.6324	0.2349	5008	,	,		12983	0.3214		0.2008	False		,,,				2504	0.2035					uc002trc.2																			1	Deletion - In frame(1)		prostate(1)	ovary(3)|kidney(1)	4						c.(1111-1119)CAGACGGGG>CAG		protein tyrosine phosphatase, non-receptor type			,	1068,966		446,176,395					,	-3.8	0.0		dbSNP_132	3	951,4205		280,391,1907	no	coding,coding	PTPN18	NM_014369.3,NM_001142370.1	,	726,567,2302	A1A1,A1R,RR		18.4445,47.4926,28.0807	,	,		2019,5171				SO:0001651	inframe_deletion	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131129929_131129934delGACGGG	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.1113_1118delGACGGG	2.37:g.131129935_131129940delGACGGG	ENSP00000175756:p.Thr378_Gly379del					PTPN18_uc002trd.2_In_Frame_Del_p.TG357del|PTPN18_uc002trb.2_In_Frame_Del_p.TG271del|PTPN18_uc002tre.2_In_Frame_Del_p.TG29del	p.TG378del	NM_014369	NP_055184	Q99952	PTN18_HUMAN			13	1214_1219	+	Colorectal(110;0.1)		378_379	Missing (in Ref. 1; CAA56105).				B4E1E6|Q53P42	In_Frame_Del	DEL	ENST00000175756.5	37	c.1113_1118delGACGGG	CCDS2161.1																																																																																					0.777	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			4	2	4	2	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	137990482	137990483	+	Frame_Shift_Ins	INS	-	-	C			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr2:137990482_137990483insC	ENST00000409968.1	+	9	2107_2108	c.1929_1930insC	c.(1930-1932)cccfs	p.P644fs	THSD7B_ENST00000413152.2_Frame_Shift_Ins_p.P613fs|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Frame_Shift_Ins_p.P644fs			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	644	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.C643C(1)|p.C612C(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAAAGCCATGTCCCCCTAGTCA	0.46																																						uc002tva.1																			2	Substitution - coding silent(2)		endometrium(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(1834-1839)TGTCCCfs		thrombospondin, type I, domain containing 7B																																				SO:0001589	frameshift_variant	80731							g.chr2:137990482_137990483insC			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1934dupC	2.37:g.137990487_137990487dupC	ENSP00000387145:p.Pro644fs					THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Frame_Shift_Ins_p.C502fs	p.C612fs	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	8	1836_1837	+									Frame_Shift_Ins	INS	ENST00000409968.1	37	c.1836_1837insC																																																																																						0.460	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		34	21	34	21	---	---	---	---
CCR3	1232	broad.mit.edu	37	3	46307342	46307343	+	Frame_Shift_Ins	INS	-	-	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr3:46307342_46307343insA	ENST00000357422.2	+	4	1236_1237	c.693_694insA	c.(694-696)aaafs	p.K232fs	CCR3_ENST00000545097.1_Frame_Shift_Ins_p.K253fs|CCR3_ENST00000395942.2_Frame_Shift_Ins_p.K232fs|CCR3_ENST00000541018.1_Frame_Shift_Ins_p.K232fs|CCR3_ENST00000395940.2_Frame_Shift_Ins_p.K232fs			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	232					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GGTGCCCCAGTAAAAAAAAGTA	0.465																																						uc003cpg.1																			0				ovary(3)|lung(3)|breast(1)|kidney(1)	8						c.(691-696)AGTAAAfs		CC chemokine receptor 3 isoform 1																																				SO:0001589	frameshift_variant	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46307342_46307343insA	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.701dupA	3.37:g.46307350_46307350dupA	ENSP00000350003:p.Lys232fs					CCR3_uc003cpi.1_Frame_Shift_Ins_p.S231fs|CCR3_uc003cpj.1_Frame_Shift_Ins_p.S231fs|CCR3_uc003cpk.1_Frame_Shift_Ins_p.S252fs|CCR3_uc010hjb.1_Frame_Shift_Ins_p.S249fs|CCR3_uc003cpl.1_Frame_Shift_Ins_p.S264fs	p.S231fs	NM_178329	NP_847899	P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	1236_1237	+			231_232			Cytoplasmic (Potential).		B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Frame_Shift_Ins	INS	ENST00000357422.2	37	c.693_694insA	CCDS2738.1																																																																																					0.465	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			21	20	21	20	---	---	---	---
FRS3	10817	broad.mit.edu	37	6	41738856	41738856	+	Frame_Shift_Del	DEL	G	G	-			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr6:41738856delG	ENST00000373018.3	-	7	1231	c.980delC	c.(979-981)ccafs	p.P327fs	FRS3_ENST00000259748.2_Frame_Shift_Del_p.P327fs	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	327					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGGGGGCAGTGGGGGCAGGTT	0.677																																						uc003orc.1																			0				ovary(2)	2						c.(979-981)CCAfs		fibroblast growth factor receptor substrate 3							27.0	30.0	29.0					6																	41738856		2203	4298	6501	SO:0001589	frameshift_variant	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41738856delG	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.980delC	6.37:g.41738856delG	ENSP00000362109:p.Pro327fs						p.P327fs	NM_006653	NP_006644	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1224	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		327					Q5T3D5	Frame_Shift_Del	DEL	ENST00000373018.3	37	c.980delC	CCDS4860.1																																																																																					0.677	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		18	10	18	10	---	---	---	---
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs200886831|rs551189349|rs199544375		TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777																																						uc003otp.1																			2	Deletion - In frame(2)		prostate(1)|central_nervous_system(1)		0						c.(22-27)GCCGGGdel		hypothetical protein LOC88745																																				SO:0001651	inframe_deletion	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42989414_42989419delGCCGGG	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.22_27delGCCGGG	6.37:g.42989420_42989425delGCCGGG	ENSP00000244496:p.Ala14_Gly15del						p.AG14del	NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		1	30_35	+			14_15					Q9BRF6|Q9P0C8	In_Frame_Del	DEL	ENST00000244496.5	37	c.22_27delGCCGGG	CCDS34453.1																																																																																					0.777	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		3	3	3	3	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1586653	1586654	+	In_Frame_Ins	INS	-	-	GCC	rs112463195|rs374586451|rs200315697		TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr7:1586653_1586654insGCC	ENST00000297477.5	-	9	1492_1493	c.1176_1177insGGC	c.(1174-1179)ggctcc>ggcGGCtcc	p.392_393insG	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	392					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CTCCCGCCGGAGCCGCCGCTGG	0.708																																						uc003skv.3																			0					0						c.(1174-1179)insGGC		transmembrane protein 184A																																				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586653_1586654insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1174_1176dupGGC	7.37:g.1586657_1586659dupGCC	ENSP00000297477:p.Gly394_Gly395dup					TMEM184A_uc003skt.3_In_Frame_Ins_p.371_372insG|TMEM184A_uc003skw.3_In_Frame_Ins_p.197_198insG	p.392_393insG	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1493_1494	-		Ovarian(82;0.0253)	392_393					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1176_1177insGGC	CCDS43537.1																																																																																					0.708	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		9	4	9	4	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149512845	149512846	+	RNA	INS	-	-	AGGTGGTC	rs377097685|rs146626309	byFrequency	TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr7:149512845_149512846insAGGTGGTC	ENST00000378016.2	+	0	10852_10853							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAACCCGGAGAGGTGGTCACT	0.653														123	0.0245607	0.087	0.0101	5008	,	,		13791	0.0		0.0	False		,,,				2504	0.001					uc010lpk.2																			0					0						c.(10852-10854)GAGfs		SCO-spondin precursor				258,3344		25,208,1568						4.3	0.6		dbSNP_134	26	5,7831		0,5,3913	no	frameshift	SSPO	NM_198455.2		25,213,5481	A1A1,A1R,RR		0.0638,7.1627,2.2994				263,11175						23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149512845_149512846insAGGTGGTC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149512846_149512853dupAGGTGGTC							p.E3618fs	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		77	10852_10853	+	Melanoma(164;0.165)|Ovarian(565;0.177)		3618					Q76B61	Frame_Shift_Ins	INS	ENST00000378016.2	37	c.10852_10853insAGGTGGTC																																																																																						0.653	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				5	3	5	3	---	---	---	---
RGS22	26166	broad.mit.edu	37	8	101076179	101076181	+	In_Frame_Del	DEL	CTT	CTT	-	rs538962849	byFrequency	TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr8:101076179_101076181delCTT	ENST00000360863.6	-	8	1009_1011	c.815_817delAAG	c.(814-819)gaagga>gga	p.E272del	RGS22_ENST00000523287.1_In_Frame_Del_p.E91del|RGS22_ENST00000523437.1_In_Frame_Del_p.E260del	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	272	Poly-Glu.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			tcttcttctccttcttcttcttc	0.374																																						uc003yjb.1																			0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(814-819)GAAGGA>GGA		regulator of G-protein signaling 22																																				SO:0001651	inframe_deletion	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101076179_101076181delCTT	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.815_817delAAG	8.37:g.101076188_101076190delCTT	ENSP00000354109:p.Glu272del					RGS22_uc003yja.1_In_Frame_Del_p.E91del|RGS22_uc003yjc.1_In_Frame_Del_p.E260del|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	p.E272del	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		8	1010_1012	-			272			Poly-Glu.		A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	In_Frame_Del	DEL	ENST00000360863.6	37	c.815_817delAAG	CCDS43758.1																																																																																					0.374	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		44	82	44	82	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21974819	21974819	+	Frame_Shift_Del	DEL	G	G	-			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr9:21974819delG	ENST00000304494.5	-	1	278	c.8delC	c.(7-9)ccgfs	p.P3fs	CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.P3fs|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.P3fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.P3fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	3					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.?(24)|p.0(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)		CCCCGCCGCCGGCTCCATGCT	0.781		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1340	Whole gene deletion(1316)|Unknown(24)	p.0?(1112)|p.?(24)|p.P3_P11del(2)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(47)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|prostate(3)|vulva(2)|endometrium(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						c.(7-9)CCGfs		cyclin-dependent kinase inhibitor 2A isoform 1							6.0	8.0	7.0					9																	21974819		1809	3643	5452	SO:0001589	frameshift_variant	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.chr9:21974819delG	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.8delC	9.37:g.21974819delG	ENSP00000307101:p.Pro3fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Frame_Shift_Del_p.P3fs|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	p.P3fs	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)	1	220	-		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)	3					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.8delC	CCDS6510.1																																																																																					0.781	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		5	3	5	3	---	---	---	---
LRRC16B	90668	broad.mit.edu	37	14	24534457	24534457	+	Frame_Shift_Del	DEL	G	G	-	rs190212219	byFrequency	TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr14:24534457delG	ENST00000342740.5	+	33	3525	c.3371delG	c.(3370-3372)cggfs	p.R1124fs	LRRC16B_ENST00000334420.7_Frame_Shift_Del_p.R220fs	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1124						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGTGGGGGCCGGGGACCTTCC	0.637																																						uc001wlj.2																			0				ovary(2)|breast(2)|pancreas(1)	5						c.(3370-3372)CGGfs		leucine rich repeat containing 16B							11.0	12.0	12.0					14																	24534457		1734	3408	5142	SO:0001589	frameshift_variant	90668							g.chr14:24534457delG	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.3371delG	14.37:g.24534457delG	ENSP00000340467:p.Arg1124fs					LRRC16B_uc001wlk.2_Frame_Shift_Del_p.R220fs	p.R1124fs	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	33	3528	+			1124					Q8TEF7|Q96HS9	Frame_Shift_Del	DEL	ENST00000342740.5	37	c.3371delG	CCDS32054.1																																																																																					0.637	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		4	2	4	2	---	---	---	---
NBEAP1	606	broad.mit.edu	37	15	20871163	20871164	+	RNA	INS	-	-	AA	rs567624867|rs112203395	byFrequency	TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr15:20871163_20871164insAA	ENST00000556948.1	-	0	1925_1926							P0C6P0	BCL8_HUMAN	neurobeachin pseudogene 1																		CTTATAGAGCCAGAGGCAAGTG	0.55														1327	0.264976	0.4183	0.183	5008	,	,		39459	0.2748		0.165	False		,,,				2504	0.2086					uc010tzd.1																			0					0								Homo sapiens mRNA; cDNA DKFZp686P1536 (from clone DKFZp686P1536).																																						606							g.chr15:20871163_20871164insAA			15q11.2	2014-03-20	2011-05-03	2011-05-03	ENSG00000258590	ENSG00000258590			1007	pseudogene	pseudogene		601889	"""B-cell CLL/lymphoma 8"""	BCL8		9159141	Standard	NR_027992		Approved	BCL8A	uc010tze.1	P0C6P0	OTTHUMG00000171717		15.37:g.20871163_20871164insAA														4		-									RNA	INS	ENST00000556948.1	37	c.1923_1924insTT																																																																																						0.550	NBEAP1-002	KNOWN	not_best_in_genome_evidence|basic	retained_intron	pseudogene	OTTHUMT00000414853.1	NR_027992		4	2	4	2	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7576904	7576904	+	Frame_Shift_Del	DEL	G	G	-			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr17:7576904delG	ENST00000269305.4	-	9	1131	c.942delC	c.(940-942)tccfs	p.S315fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.S315fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.S315fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S315fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.S315fs	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	315	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in a sporadic cancer; somatic mutation).|S -> P (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.S315fs*22(2)|p.S315fs*30(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(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)	GCTGGGGAGAGGAGCTGGTGT	0.478		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		14	Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - Frameshift(2)|Unknown(1)	p.0?(7)|p.S315fs*22(2)|p.S315fs*30(1)|p.?(1)|p.S314F(1)|p.S314fs*25(1)|p.L308fs*15(1)	bone(5)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|ovary(2)|stomach(1)|oesophagus(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						c.(940-942)TCCfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							134.0	122.0	126.0					17																	7576904		2203	4300	6503	SO:0001589	frameshift_variant	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.chr17:7576904delG	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.942delC	17.37:g.7576904delG	ENSP00000269305:p.Ser315fs	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_Frame_Shift_Del_p.S314fs|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Frame_Shift_Del_p.S182fs|TP53_uc010cng.1_Frame_Shift_Del_p.S182fs|TP53_uc002gii.1_Frame_Shift_Del_p.S182fs|TP53_uc010cnh.1_Frame_Shift_Del_p.S314fs|TP53_uc010cni.1_Frame_Shift_Del_p.S314fs|TP53_uc002gij.2_Frame_Shift_Del_p.S314fs	p.S314fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1136	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	314		S -> F (in a sporadic cancer; somatic mutation).	Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.942delC	CCDS11118.1																																																																																					0.478	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	27	18	27	---	---	---	---
GIPC3	126326	broad.mit.edu	37	19	3590186	3590187	+	Stop_Codon_Ins	INS	-	-	A			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr19:3590186_3590187insA	ENST00000322315.5	+	0	982_983					NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3											breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCTGTGGCTAGTTTGCCCTG	0.673																																						uc002lyd.3																			0				breast(1)	1						c.(937-939)TAGfs		GIPC PDZ domain containing family, member 3																																				SO:0001567	stop_retained_variant	126326							g.chr19:3590186_3590187insA	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.937dupA	19.37:g.3590187_3590187dupA							p.*313fs	NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	6	964_965	+			313					O75227	Frame_Shift_Ins	INS	ENST00000322315.5	37	c.937_938insA	CCDS32871.1																																																																																					0.673	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		4	2	4	2	---	---	---	---
IL12RB1	3594	broad.mit.edu	37	19	18186558	18186558	+	Splice_Site	DEL	C	C	-			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr19:18186558delC	ENST00000600835.2	-	8	999		c.e8+1		IL12RB1_ENST00000322153.7_Splice_Site|IL12RB1_ENST00000593993.2_Splice_Site			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1						cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						AGTGATCTTACCAGGGGGAAC	0.577																																						uc002nhw.1																			0				pancreas(1)	1						c.e7+1		interleukin 12 receptor, beta 1 isoform 1							59.0	58.0	58.0					19																	18186558		2203	4300	6503	SO:0001630	splice_region_variant	3594				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18186558delC	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.700+1G>-	19.37:g.18186558delC						IL12RB1_uc010xqb.1_Splice_Site_p.E234_splice|IL12RB1_uc002nhx.1_Splice_Site_p.E274_splice|IL12RB1_uc002nhy.2_Splice_Site_p.E234_splice	p.E234_splice	NM_005535	NP_005526	P42701	I12R1_HUMAN			7	764	-								A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Splice_Site	DEL	ENST00000600835.2	37	c.700_splice	CCDS54232.1																																																																																					0.577	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3		Intron	21	18	21	18	---	---	---	---
ZNF585B	92285	broad.mit.edu	37	19	37673417	37673417	+	3'UTR	DEL	A	A	-			TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr19:37673417delA	ENST00000532828.2	-	0	5273				CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAGGGAGGTAATGGGTGAGC	0.433																																					Melanoma(93;882 1454 18863 28917 48427)	uc002ofp.1																			0													Homo sapiens cDNA FLJ33255 fis, clone ASTRO2005553.																																				SO:0001624	3_prime_UTR_variant	0							g.chr19:37673417delA	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.*2712T>-	19.37:g.37673417delA														1		-								Q8IZD3|Q96JW6	RNA	DEL	ENST00000532828.2	37	c.1504delT	CCDS12500.1																																																																																					0.433	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		4	2	4	2	---	---	---	---
AP001623.1	0	broad.mit.edu	37	21	43720386	43720387	+	RNA	DEL	GT	GT	-	rs142198765		TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr21:43720386_43720387delGT	ENST00000401378.1	-	0	68_69																											ACAGGGGCTGgtgtgtgtgtgt	0.55																																						uc002zau.2																			0													Homo sapiens EST from clone 208499, full insert.				117,2837		8,101,1368						-0.2	0.0		dbSNP_134	70	210,4996		37,136,2430	no	intergenic				45,237,3798	A1A1,A1R,RR		4.0338,3.9607,4.0074				327,7833						0							g.chr21:43720386_43720387delGT																													21.37:g.43720396_43720397delGT														1		+									RNA	DEL	ENST00000401378.1	37	c.1283_1284delGT																																																																																						0.550	AP001623.1-201	NOVEL	basic	miRNA	miRNA				4	2	4	2	---	---	---	---
LOC101929350	101929350	broad.mit.edu	37	22	17229222	17229223	+	lincRNA	DEL	CC	CC	-	rs148433359		TCGA-43-3394-01A-01D-0983-08	TCGA-43-3394-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb72e789-f8ad-4ab5-805b-a9ac21cef0e3	37a26c5a-bbbc-4403-81b3-5c5510ee3432	g.chr22:17229222_17229223delCC	ENST00000422917.1	-	0	312_313																											tccccggactccgtctgctgtt	0.639																																						uc002zlu.2																			0													Homo sapiens cDNA clone IMAGE:3920443, partial cds.																																						0							g.chr22:17229222_17229223delCC																													22.37:g.17229222_17229223delCC														1		-									RNA	DEL	ENST00000422917.1	37	c.106_107delGG																																																																																						0.639	AC005301.8-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331389.1			5	3	5	3	---	---	---	---
