#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
MTOR	2475	broad.mit.edu	37	1	11181422	11181422	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:11181422C>A	ENST00000361445.4	-	49	6890	c.6814G>T	c.(6814-6816)Gct>Tct	p.A2272S	MTOR_ENST00000376838.1_Missense_Mutation_p.A477S	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2272	Interaction with MLST8.|PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.A2272S(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TAGTCCGGAGCCATCTGCATC	0.527																																						uc001asd.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(6814-6816)GCT>TCT		FK506 binding protein 12-rapamycin associated							121.0	99.0	107.0					1																	11181422		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11181422C>A	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6814G>T	1.37:g.11181422C>A	ENSP00000354558:p.Ala2272Ser					MTOR_uc001asc.2_Missense_Mutation_p.A477S	p.A2272S	NM_004958	NP_004949	P42345	MTOR_HUMAN			49	6935	-			2272			PI3K/PI4K.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.6814G>T	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	32	5.128550	0.94473	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.11712	2.98;2.75	5.73	5.73	0.89815	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.28665	0.0710	L	0.59436	1.845	0.80722	D	1	D	0.55605	0.972	P	0.58577	0.841	T	0.00146	-1.1992	10	0.66056	D	0.02	-16.1909	19.8991	0.96978	0.0:1.0:0.0:0.0	.	2272	P42345	MTOR_HUMAN	S	2272;477	ENSP00000354558:A2272S;ENSP00000366034:A477S	ENSP00000354558:A2272S	A	-	1	0	MTOR	11104009	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.456000	0.80751	2.708000	0.92522	0.655000	0.94253	GCT		PASS	0.527	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		14	57	14	57	---	---	---	---
SESN2	83667	broad.mit.edu	37	1	28599167	28599167	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:28599167C>T	ENST00000253063.3	+	5	934	c.613C>T	c.(613-615)Cac>Tac	p.H205Y		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	205					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.H205Y(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCACTGCCACTCGCTCTC	0.637																																						uc001bps.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)|lung(1)	7						c.(613-615)CAC>TAC		sestrin 2							126.0	108.0	114.0					1																	28599167		2203	4300	6503	SO:0001583	missense	83667				cell cycle arrest	cytoplasm|nucleus		g.chr1:28599167C>T	AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.613C>T	1.37:g.28599167C>T	ENSP00000253063:p.His205Tyr						p.H205Y	NM_031459	NP_113647	P58004	SESN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)	5	966	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	205					Q5T7D0|Q96SI5	Missense_Mutation	SNP	ENST00000253063.3	37	c.613C>T	CCDS321.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785517	0.90282	.	.	ENSG00000130766	ENST00000253063	T	0.29397	1.57	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.63189	0.2490	M	0.86343	2.81	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.69367	-0.5164	10	0.72032	D	0.01	-35.9724	18.9052	0.92458	0.0:1.0:0.0:0.0	.	205	P58004	SESN2_HUMAN	Y	205	ENSP00000253063:H205Y	ENSP00000253063:H205Y	H	+	1	0	SESN2	28471754	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.412000	0.80091	2.568000	0.86640	0.591000	0.81541	CAC		PASS	0.637	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1			18	61	18	61	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39905023	39905023	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:39905023T>C	ENST00000372915.3	+	71	18082	c.17995T>C	c.(17995-17997)Ttt>Ctt	p.F5999L	MACF1_ENST00000317713.7_Missense_Mutation_p.F4041L|MACF1_ENST00000361689.2_Missense_Mutation_p.F4041L|MACF1_ENST00000567887.1_Missense_Mutation_p.F6137L|MACF1_ENST00000289893.4_Missense_Mutation_p.F4543L|MACF1_ENST00000545844.1_Missense_Mutation_p.F4041L|MACF1_ENST00000539005.1_Missense_Mutation_p.F3911L|MACF1_ENST00000564288.1_Missense_Mutation_p.F6100L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5999					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.F4543L(1)|p.F4041L(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAATCAAATTTCTTGATGT	0.418																																						uc010oiu.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(13627-13629)TTT>CTT		microfilament and actin filament cross-linker							72.0	70.0	70.0					1																	39905023		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39905023T>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.17995T>C	1.37:g.39905023T>C	ENSP00000362006:p.Phe5999Leu					MACF1_uc010ois.1_Missense_Mutation_p.F4041L	p.F4543L	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	13758	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.13627T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.709|9.709	1.156680|1.156680	0.21454|0.21454	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.36878|.	2.65;2.65;2.65;2.65;2.65;1.23|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.16342|0.16342	0.0393|0.0393	N|N	0.00275|0.00275	-1.725|-1.725	0.80722|0.80722	D|D	1|1	B;B|.	0.32573|.	0.376;0.024|.	B;B|.	0.29353|.	0.101;0.012|.	T|T	0.36939|0.36939	-0.9727|-0.9727	10|5	0.02654|.	T|.	1|.	.|.	16.086|16.086	0.81049|0.81049	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	5999;4041|.	Q9UPN3;F8W8Q1|.	MACF1_HUMAN;.|.	L|T	4041;5999;4041;4041;3911;4543|3044	ENSP00000439537:F4041L;ENSP00000362006:F5999L;ENSP00000354573:F4041L;ENSP00000313438:F4041L;ENSP00000444364:F3911L;ENSP00000289893:F4543L|.	ENSP00000289893:F4543L|.	F|I	+|+	1|2	0|0	MACF1|MACF1	39677610|39677610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	4.638000|4.638000	0.61353|0.61353	2.207000|2.207000	0.71202|0.71202	0.528000|0.528000	0.53228|0.53228	TTT|ATT		PASS	0.418	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		15	54	15	54	---	---	---	---
DNAJC6	9829	broad.mit.edu	37	1	65854059	65854059	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:65854059G>T	ENST00000395325.3	+	9	1140	c.983G>T	c.(982-984)gGa>gTa	p.G328V	DNAJC6_ENST00000498720.1_3'UTR|DNAJC6_ENST00000371069.4_Missense_Mutation_p.G385V|DNAJC6_ENST00000263441.7_Missense_Mutation_p.G315V	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	328	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)	p.G328V(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TTTCACACTGGATTCATACCA	0.393																																						uc001dcd.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(982-984)GGA>GTA		DnaJ (Hsp40) homolog, subfamily C, member 6							181.0	165.0	170.0					1																	65854059		2203	4300	6503	SO:0001583	missense	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65854059G>T	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.983G>T	1.37:g.65854059G>T	ENSP00000378735:p.Gly328Val					DNAJC6_uc001dcc.1_Missense_Mutation_p.G359V|DNAJC6_uc010opc.1_Missense_Mutation_p.G315V|DNAJC6_uc001dce.1_Missense_Mutation_p.G385V	p.G328V	NM_014787	NP_055602	O75061	AUXI_HUMAN			9	1147	+			328			C2 tensin-type.		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	ENST00000395325.3	37	c.983G>T	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427347	0.83667	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.84873	-1.91;-1.91;-1.91	4.9	4.9	0.64082	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.92519	0.7624	M	0.85777	2.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92755	0.6219	10	0.62326	D	0.03	.	18.6383	0.91386	0.0:0.0:1.0:0.0	.	385;328;315	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	V	315;328;385	ENSP00000263441:G315V;ENSP00000378735:G328V;ENSP00000360108:G385V	ENSP00000263441:G315V	G	+	2	0	DNAJC6	65626647	1.000000	0.71417	0.998000	0.56505	0.706000	0.40770	8.961000	0.93122	2.712000	0.92718	0.650000	0.86243	GGA		PASS	0.393	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			35	70	35	70	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70446061	70446061	+	Splice_Site	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:70446061G>A	ENST00000035383.5	+	7	627		c.e7-1		LRRC7_ENST00000310961.5_Splice_Site|LRRC7_ENST00000415775.2_Splice_Site	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.?(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTCTCTCCCAGCCTGAAGTTC	0.343																																						uc001dep.2																			1	Unknown(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.e7-1		leucine rich repeat containing 7							148.0	152.0	151.0					1																	70446061		2203	4300	6503	SO:0001630	splice_region_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70446061G>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.598-1G>A	1.37:g.70446061G>A						LRRC7_uc009wbg.2_Splice_Site	p.P200_splice	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			7	628	+								Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Splice_Site	SNP	ENST00000035383.5	37	c.598_splice	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125117	0.77436	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3726	0.83370	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRC7	70218649	1.000000	0.71417	0.998000	0.56505	0.876000	0.50452	9.147000	0.94646	2.608000	0.88229	0.650000	0.86243	.		PASS	0.343	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	Intron	37	141	37	141	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70451935	70451935	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:70451935A>T	ENST00000035383.5	+	8	713	c.683A>T	c.(682-684)aAg>aTg	p.K228M	LRRC7_ENST00000310961.5_Missense_Mutation_p.K233M|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	228						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.K228M(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCTATAGGGAAGTTAAAGATG	0.358																																						uc001dep.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(682-684)AAG>ATG		leucine rich repeat containing 7							112.0	104.0	107.0					1																	70451935		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70451935A>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.683A>T	1.37:g.70451935A>T	ENSP00000035383:p.Lys228Met					LRRC7_uc009wbg.2_Translation_Start_Site	p.K228M	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			8	713	+			228			LRR 9.		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.683A>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.305450	0.40795	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.59083	0.29;0.29	5.99	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.58666	0.2138	L	0.54965	1.715	0.80722	D	1	D	0.64830	0.994	D	0.63957	0.92	T	0.63839	-0.6546	10	0.59425	D	0.04	.	11.3431	0.49543	0.9297:0.0:0.0703:0.0	.	228	Q96NW7	LRRC7_HUMAN	M	233;228;51	ENSP00000309245:K233M;ENSP00000035383:K228M	ENSP00000035383:K228M	K	+	2	0	LRRC7	70224523	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	7.037000	0.76531	1.091000	0.41335	-0.256000	0.11100	AAG		PASS	0.358	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		6	33	6	33	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75038652	75038652	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:75038652C>A	ENST00000326665.5	-	14	2960	c.2742G>T	c.(2740-2742)gaG>gaT	p.E914D	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		914	Glu-rich.							p.E914D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CATGAAGATGCTCCAAGTTCA	0.542																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(2740-2742)GAG>GAT		hypothetical protein LOC127254							205.0	200.0	202.0					1																	75038652		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038652C>A																												ENST00000326665.5:c.2742G>T	1.37:g.75038652C>A	ENSP00000322609:p.Glu914Asp						p.E914D	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	2961	-			914			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2742G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792170	0.31685	.	.	ENSG00000178965	ENST00000326665	T	0.12879	2.64	4.44	3.49	0.39957	.	.	.	.	.	T	0.04137	0.0115	L	0.36672	1.1	0.28634	N	0.907524	B	0.21225	0.053	B	0.21917	0.037	T	0.38156	-0.9674	9	0.21540	T	0.41	0.0227	12.5391	0.56158	0.1685:0.8314:0.0:0.0	.	914	Q5RHP9	CA173_HUMAN	D	914	ENSP00000322609:E914D	ENSP00000322609:E914D	E	-	3	2	C1orf173	74811240	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.624000	0.24462	0.917000	0.36895	0.563000	0.77884	GAG		PASS	0.542	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			40	212	40	212	---	---	---	---
IFI44	10561	broad.mit.edu	37	1	79125075	79125075	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:79125075G>T	ENST00000370747.4	+	6	1004	c.919G>T	c.(919-921)Gtg>Ttg	p.V307L	IFI44_ENST00000495254.1_3'UTR|IFI44_ENST00000545124.1_Missense_Mutation_p.V24L	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	307					response to virus (GO:0009615)	cytoplasm (GO:0005737)		p.V307L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AATTCATTGTGTGGCATTTGT	0.378																																						uc001dip.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(919-921)GTG>TTG		interferon-induced, hepatitis C-associated							133.0	121.0	125.0					1																	79125075		2203	4300	6503	SO:0001583	missense	10561				response to virus	cytoplasm		g.chr1:79125075G>T	D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.919G>T	1.37:g.79125075G>T	ENSP00000359783:p.Val307Leu					IFI44_uc010orr.1_Missense_Mutation_p.V307L|IFI44_uc010ors.1_Missense_Mutation_p.V24L	p.V307L	NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN			6	1043	+			307					B7ZAG3|D3DQ80|Q14496	Missense_Mutation	SNP	ENST00000370747.4	37	c.919G>T	CCDS688.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274032	0.23221	.	.	ENSG00000137965	ENST00000370747;ENST00000438486;ENST00000545124	T;T	0.35421	1.31;1.31	3.81	3.81	0.43845	.	0.493199	0.19372	N	0.115900	T	0.35128	0.0921	L	0.43646	1.37	0.37628	D	0.921576	D;P;P	0.69078	0.997;0.663;0.663	P;B;B	0.61397	0.888;0.217;0.217	T	0.17198	-1.0377	10	0.66056	D	0.02	.	9.6728	0.40023	0.0:0.2125:0.7875:0.0	.	307;307;307	B4DYN8;B7ZB11;Q8TCB0	.;.;IFI44_HUMAN	L	307;183;24	ENSP00000359783:V307L;ENSP00000399477:V183L	ENSP00000359783:V307L	V	+	1	0	IFI44	78897663	1.000000	0.71417	0.986000	0.45419	0.197000	0.23852	4.453000	0.60061	2.408000	0.81797	0.404000	0.27445	GTG		PASS	0.378	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417		21	88	21	88	---	---	---	---
ELTD1	64123	broad.mit.edu	37	1	79383532	79383532	+	Nonsense_Mutation	SNP	A	A	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:79383532A>T	ENST00000370742.3	-	11	1728	c.1665T>A	c.(1663-1665)taT>taA	p.Y555*		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	555					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.Y555*(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTGTGCCATAATATCTGTATC	0.343																																						uc001diq.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1663-1665)TAT>TAA		EGF, latrophilin and seven transmembrane domain							129.0	129.0	129.0					1																	79383532		1853	4094	5947	SO:0001587	stop_gained	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79383532A>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1665T>A	1.37:g.79383532A>T	ENSP00000359778:p.Tyr555*						p.Y555*	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	11	1821	-			555			Extracellular (Potential).		B1AR71|Q5KU34	Nonsense_Mutation	SNP	ENST00000370742.3	37	c.1665T>A	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	A	38	6.736248	0.97801	.	.	ENSG00000162618	ENST00000370742;ENST00000401034	.	.	.	5.79	-1.02	0.10135	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3358	0.55067	0.557:0.0:0.443:0.0	.	.	.	.	X	555;13	.	.	Y	-	3	2	ELTD1	79156120	0.970000	0.33590	0.989000	0.46669	0.592000	0.36648	0.284000	0.18864	-0.345000	0.08325	-1.751000	0.00678	TAT		PASS	0.343	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		29	141	29	141	---	---	---	---
TTLL7	79739	broad.mit.edu	37	1	84399338	84399338	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:84399338C>A	ENST00000260505.8	-	9	1377	c.1000G>T	c.(1000-1002)Gga>Tga	p.G334*	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	334	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)	p.G334*(1)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		ATATCAAATCCCAGGACTTCA	0.413																																						uc001djc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1000-1002)GGA>TGA		tubulin tyrosine ligase-like family, member 7							121.0	121.0	121.0					1																	84399338		2203	4300	6503	SO:0001587	stop_gained	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84399338C>A	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.1000G>T	1.37:g.84399338C>A	ENSP00000260505:p.Gly334*					TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	p.G334*	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	9	1396	-			334			TTL.		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Nonsense_Mutation	SNP	ENST00000260505.8	37	c.1000G>T	CCDS690.2	.	.	.	.	.	.	.	.	.	.	C	42	9.334650	0.99140	.	.	ENSG00000137941	ENST00000260505;ENST00000370704;ENST00000370703	.	.	.	5.65	5.65	0.86999	.	0.099071	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7818	0.96418	0.0:1.0:0.0:0.0	.	.	.	.	X	334;111;334	.	ENSP00000260505:G334X	G	-	1	0	TTLL7	84171926	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.461000	0.80834	2.674000	0.91012	0.644000	0.83932	GGA		PASS	0.413	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		22	125	22	125	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103352377	103352377	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:103352377G>T	ENST00000370096.3	-	63	5156	c.4844C>A	c.(4843-4845)cCt>cAt	p.P1615H	COL11A1_ENST00000358392.2_Missense_Mutation_p.P1627H|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1499H|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1576H	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1615	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.P1627H(1)|p.P1615H(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGGGAAGTCAGGATGGCTGAG	0.433																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(4843-4845)CCT>CAT		alpha 1 type XI collagen isoform A							172.0	170.0	170.0					1																	103352377		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103352377G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4844C>A	1.37:g.103352377G>T	ENSP00000359114:p.Pro1615His					COL11A1_uc001duk.2_Missense_Mutation_p.P811H|COL11A1_uc001dum.2_Missense_Mutation_p.P1627H|COL11A1_uc001dun.2_Missense_Mutation_p.P1576H|COL11A1_uc009weh.2_Missense_Mutation_p.P1499H	p.P1615H	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	63	5162	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1615			Fibrillar collagen NC1.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.4844C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033250	0.75504	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	5.53	5.53	0.82687	Fibrillar collagen, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.36276	0.0961	M	0.91090	3.175	0.80722	D	1	B;P;P;P;B	0.47034	0.206;0.713;0.865;0.889;0.172	B;B;B;P;B	0.46758	0.251;0.303;0.391;0.526;0.163	T	0.52434	-0.8576	10	0.87932	D	0	.	19.4555	0.94886	0.0:0.0:1.0:0.0	.	1499;1576;1627;1615;835	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	H	1615;1627;1576;835;1499	ENSP00000359114:P1615H;ENSP00000351163:P1627H;ENSP00000302551:P1576H;ENSP00000426533:P1499H	ENSP00000302551:P1576H	P	-	2	0	COL11A1	103124965	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.863000	0.87023	2.608000	0.88229	0.313000	0.20887	CCT		PASS	0.433	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		32	138	32	138	---	---	---	---
ANKRD34A	284615	broad.mit.edu	37	1	145474235	145474235	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:145474235G>A	ENST00000323397.4	+	4	2200	c.907G>A	c.(907-909)Gag>Aag	p.E303K	RP11-315I20.1_ENST00000600340.1_RNA|LIX1L_ENST00000369308.3_5'Flank	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	303	Pro-rich.					cytoplasm (GO:0005737)		p.E303K(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCCATGGGCGGAGAAAGTGAC	0.632																																						uc001enq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(907-909)GAG>AAG		ankyrin repeat domain 34							27.0	33.0	31.0					1																	145474235		2201	4300	6501	SO:0001583	missense	284615							g.chr1:145474235G>A	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.907G>A	1.37:g.145474235G>A	ENSP00000314103:p.Glu303Lys					NBPF10_uc001emp.3_Intron|LIX1L_uc001enr.2_5'Flank	p.E303K	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN			4	2200	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		303			Pro-rich.		B3KSU3	Missense_Mutation	SNP	ENST00000323397.4	37	c.907G>A	CCDS30829.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498614	0.26861	.	.	ENSG00000181039	ENST00000323397	T	0.71698	-0.59	4.94	4.94	0.65067	.	0.523567	0.18819	N	0.130288	T	0.34542	0.0901	N	0.14661	0.345	0.37493	D	0.916476	B	0.33494	0.414	B	0.27887	0.084	T	0.31752	-0.9932	10	0.12103	T	0.63	-16.4595	15.7651	0.78120	0.0:0.0:1.0:0.0	.	303	Q69YU3	AN34A_HUMAN	K	303	ENSP00000314103:E303K	ENSP00000314103:E303K	E	+	1	0	ANKRD34A	144185592	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	2.297000	0.43593	2.574000	0.86865	0.454000	0.30748	GAG		PASS	0.632	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1			11	42	11	42	---	---	---	---
LYSMD1	388695	broad.mit.edu	37	1	151134303	151134303	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:151134303G>A	ENST00000368908.5	-	2	1114	c.454C>T	c.(454-456)Ctc>Ttc	p.L152F	LYSMD1_ENST00000440902.2_Missense_Mutation_p.L104F	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	152								p.L152F(1)		endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGGCAGAGAGGTCATGGATG	0.517																																						uc001ewy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(454-456)CTC>TTC		LysM, putative peptidoglycan-binding, domain							173.0	165.0	168.0					1																	151134303		2203	4300	6503	SO:0001583	missense	388695				cell wall macromolecule catabolic process			g.chr1:151134303G>A	BX647911	CCDS986.1, CCDS44218.1	1q21.2	2008-02-05			ENSG00000163155	ENSG00000163155			32070	protein-coding gene	gene with protein product						12477932	Standard	NM_212551		Approved	SB145, MGC35223, RP11-68I18.5	uc001ewy.3	Q96S90	OTTHUMG00000012260	ENST00000368908.5:c.454C>T	1.37:g.151134303G>A	ENSP00000357904:p.Leu152Phe					LYSMD1_uc010pcr.1_Missense_Mutation_p.L104F	p.L152F	NM_212551	NP_997716	Q96S90	LYSM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	1090	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		152					B4DQA1|Q69YX9	Missense_Mutation	SNP	ENST00000368908.5	37	c.454C>T	CCDS986.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876649	0.91664	.	.	ENSG00000163155	ENST00000368908;ENST00000440902	T;T	0.51574	0.94;0.7	5.76	5.76	0.90799	.	0.068440	0.64402	D	0.000011	T	0.64416	0.2596	M	0.76328	2.33	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.66960	-0.5791	10	0.72032	D	0.01	-2.5107	16.8723	0.86043	0.0:0.0:1.0:0.0	.	104;152	Q96S90-2;Q96S90	.;LYSM1_HUMAN	F	152;104	ENSP00000357904:L152F;ENSP00000404059:L104F	ENSP00000357904:L152F	L	-	1	0	LYSMD1	149400927	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.794000	0.69067	2.713000	0.92767	0.591000	0.81541	CTC		PASS	0.517	LYSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034070.3	NM_212551		63	148	63	148	---	---	---	---
PSMB4	5692	broad.mit.edu	37	1	151372951	151372951	+	Silent	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:151372951C>T	ENST00000290541.6	+	3	435	c.381C>T	c.(379-381)agC>agT	p.S127S		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	127					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)	p.S127S(1)		endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATGGACACAGCTATAGTCCTA	0.498																																						uc001eyc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(379-381)AGC>AGT		proteasome beta 4 subunit							118.0	119.0	119.0					1																	151372951		2203	4300	6503	SO:0001819	synonymous_variant	5692				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr1:151372951C>T	D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"""Proteasome (prosome, macropain) subunits"""	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.381C>T	1.37:g.151372951C>T						PSMB4_uc010pda.1_Silent_p.S127S|PSMB4_uc001eyb.1_3'UTR	p.S127S	NM_002796	NP_002787	P28070	PSB4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		3	404	+	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		127					B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Silent	SNP	ENST00000290541.6	37	c.381C>T	CCDS996.1																																																																																				PASS	0.498	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	NM_002796		19	207	19	207	---	---	---	---
TCHHL1	126637	broad.mit.edu	37	1	152057612	152057612	+	Missense_Mutation	SNP	A	A	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:152057612A>C	ENST00000368806.1	-	3	2610	c.2546T>G	c.(2545-2547)tTt>tGt	p.F849C		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	849							calcium ion binding (GO:0005509)	p.F849C(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTAGTTGAAAAAGACAGAACA	0.507																																						uc001ezo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2545-2547)TTT>TGT		trichohyalin-like 1							216.0	189.0	198.0					1																	152057612		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152057612A>C		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2546T>G	1.37:g.152057612A>C	ENSP00000357796:p.Phe849Cys						p.F849C	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	2611	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		849					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.2546T>G	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	13.96	2.394118	0.42410	.	.	ENSG00000182898	ENST00000368806	T	0.36878	1.23	3.74	-0.224	0.13115	.	.	.	.	.	T	0.15349	0.0370	L	0.29908	0.895	0.09310	N	1	D	0.64830	0.994	P	0.51415	0.669	T	0.08166	-1.0735	9	0.37606	T	0.19	2.7025	6.5505	0.22431	0.6524:0.0:0.3476:0.0	.	849	Q5QJ38	TCHL1_HUMAN	C	849	ENSP00000357796:F849C	ENSP00000357796:F849C	F	-	2	0	TCHHL1	150324236	0.000000	0.05858	0.000000	0.03702	0.160000	0.22226	0.127000	0.15790	-0.038000	0.13624	0.482000	0.46254	TTT		PASS	0.507	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		48	90	48	90	---	---	---	---
TCHHL1	126637	broad.mit.edu	37	1	152057616	152057616	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:152057616C>G	ENST00000368806.1	-	3	2606	c.2542G>C	c.(2542-2544)Gtc>Ctc	p.V848L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	848							calcium ion binding (GO:0005509)	p.V848L(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTGAAAAAGACAGAACAATCT	0.502																																						uc001ezo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2542-2544)GTC>CTC		trichohyalin-like 1							221.0	193.0	203.0					1																	152057616		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152057616C>G		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2542G>C	1.37:g.152057616C>G	ENSP00000357796:p.Val848Leu						p.V848L	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	2607	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		848					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.2542G>C	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	7.352	0.623162	0.14193	.	.	ENSG00000182898	ENST00000368806	T	0.23552	1.9	3.83	-0.468	0.12146	.	.	.	.	.	T	0.03695	0.0105	N	0.24115	0.695	0.09310	N	1	B	0.30914	0.3	B	0.19946	0.027	T	0.39502	-0.9611	9	0.27785	T	0.31	2.0341	3.4014	0.07324	0.0:0.4598:0.2017:0.3385	.	848	Q5QJ38	TCHL1_HUMAN	L	848	ENSP00000357796:V848L	ENSP00000357796:V848L	V	-	1	0	TCHHL1	150324240	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-1.375000	0.02563	-0.089000	0.12484	0.655000	0.94253	GTC		PASS	0.502	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		50	89	50	89	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152283855	152283855	+	Silent	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:152283855C>T	ENST00000368799.1	-	3	3542	c.3507G>A	c.(3505-3507)ccG>ccA	p.P1169P	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1169	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.P1169P(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTTGACCCCGGGTGTGCAC	0.597									Ichthyosis																													uc001ezu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(3505-3507)CCG>CCA		filaggrin							300.0	353.0	335.0					1																	152283855		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283855C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3507G>A	1.37:g.152283855C>T						uc001ezv.2_5'Flank	p.P1169P	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3543	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1169			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.3507G>A	CCDS30860.1																																																																																				PASS	0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		17	796	17	796	---	---	---	---
ATP8B2	57198	broad.mit.edu	37	1	154304496	154304496	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:154304496G>A	ENST00000368489.3	+	8	604	c.604G>A	c.(604-606)Gat>Aat	p.D202N	ATP8B2_ENST00000341822.2_Missense_Mutation_p.D188N|ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.D169N	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	188					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.D169N(1)|p.D202N(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCAGAACTTGATGGGTAAGT	0.483																																						uc001fey.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(562-564)GAT>AAT		ATPase, class I, type 8B, member 2 isoform b							131.0	129.0	130.0					1																	154304496		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154304496G>A	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.604G>A	1.37:g.154304496G>A	ENSP00000357475:p.Asp202Asn					ATP8B2_uc001few.2_Missense_Mutation_p.D169N|ATP8B2_uc001fex.2_Missense_Mutation_p.D202N	p.D188N	NM_001005855	NP_001005855	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		7	751	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		188			Cytoplasmic (Potential).		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.562G>A	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	30	5.049974	0.93740	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	D;D;D	0.88664	-2.41;-2.41;-2.41	5.28	5.28	0.74379	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.057389	0.64402	D	0.000003	D	0.96595	0.8889	H	0.97365	3.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97582	1.0111	10	0.87932	D	0	.	17.6529	0.88170	0.0:0.0:1.0:0.0	.	188;202;169	P98198;P98198-3;P98198-4	AT8B2_HUMAN;.;.	N	169;202;188	ENSP00000357472:D169N;ENSP00000357475:D202N;ENSP00000340448:D188N	ENSP00000340448:D188N	D	+	1	0	ATP8B2	152571120	1.000000	0.71417	0.994000	0.49952	0.605000	0.37080	9.657000	0.98554	2.745000	0.94114	0.655000	0.94253	GAT		PASS	0.483	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		50	100	50	100	---	---	---	---
PKLR	5313	broad.mit.edu	37	1	155264485	155264485	+	Silent	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:155264485G>A	ENST00000342741.4	-	6	791	c.753C>T	c.(751-753)ggC>ggT	p.G251G	PKLR_ENST00000392414.3_Silent_p.G220G	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	251					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)	p.G251G(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GCAAGTTCACGCCCTTCCGGC	0.672																																						uc001fkb.3																			1	Substitution - coding silent(1)	p.G251S(2)	lung(1)	skin(4)|ovary(1)	5						c.(751-753)GGC>GGT		pyruvate kinase, liver and RBC isoform 1	Pyruvic acid(DB00119)						27.0	28.0	28.0					1																	155264485		2203	4299	6502	SO:0001819	synonymous_variant	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155264485G>A	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.753C>T	1.37:g.155264485G>A						RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Silent_p.G220G	p.G251G	NM_000298	NP_000289	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		6	792	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		251					O75758|P11973	Silent	SNP	ENST00000342741.4	37	c.753C>T	CCDS1109.1																																																																																				PASS	0.672	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		4	50	4	50	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157514826	157514826	+	Silent	SNP	A	A	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:157514826A>G	ENST00000361835.3	-	4	511	c.354T>C	c.(352-354)tcT>tcC	p.S118S	FCRL5_ENST00000368191.3_Silent_p.S33S|FCRL5_ENST00000356953.4_Silent_p.S118S|FCRL5_ENST00000368190.3_Silent_p.S118S|FCRL5_ENST00000368189.3_Silent_p.S118S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	118					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.S118S(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TCAGAACCACAGAGTCTCCTT	0.413																																						uc001fqu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)	6						c.(352-354)TCT>TCC		Fc receptor-like 5							62.0	64.0	63.0					1																	157514826		2203	4300	6503	SO:0001819	synonymous_variant	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157514826A>G	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.354T>C	1.37:g.157514826A>G						FCRL5_uc009wsm.2_Silent_p.S118S|FCRL5_uc010phv.1_Silent_p.S118S|FCRL5_uc010phw.1_Silent_p.S33S|FCRL5_uc001fqv.1_Silent_p.S118S|FCRL5_uc010phx.1_5'UTR	p.S118S	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			4	512	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	118			Extracellular (Potential).		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	c.354T>C	CCDS1165.1																																																																																				PASS	0.413	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		50	77	50	77	---	---	---	---
SLAMF9	89886	broad.mit.edu	37	1	159922310	159922310	+	Missense_Mutation	SNP	G	G	C	rs572800730	byFrequency	TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:159922310G>C	ENST00000368093.3	-	3	522	c.406C>G	c.(406-408)Ccc>Gcc	p.P136A	SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	136	Ig-like C2-type.					integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P136A(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGATCTGGGGCTCTGACAGC	0.517																																						uc001fus.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(406-408)CCC>GCC		SLAM family member 9 isoform 1							96.0	95.0	96.0					1																	159922310		2203	4300	6503	SO:0001583	missense	89886					integral to membrane		g.chr1:159922310G>C	AY034613	CCDS1191.1, CCDS53392.1	1q23.1	2013-01-11			ENSG00000162723	ENSG00000162723		"""Immunoglobulin superfamily / V-set domain containing"""	18430	protein-coding gene	gene with protein product		608589				11685473	Standard	NM_033438		Approved	CD2F-10, CD84-H1, SF2001	uc001fus.3	Q96A28	OTTHUMG00000024074	ENST00000368093.3:c.406C>G	1.37:g.159922310G>C	ENSP00000357072:p.Pro136Ala					SLAMF9_uc009wtd.2_Intron|SLAMF9_uc001fut.2_Intron	p.P136A	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	523	-	all_hematologic(112;0.093)		136			Ig-like C2-type.|Extracellular (Potential).		Q5JRQ9|Q5JRR0|Q6UWG1	Missense_Mutation	SNP	ENST00000368093.3	37	c.406C>G	CCDS1191.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837421	0.50951	.	.	ENSG00000162723	ENST00000368093	T	0.27557	1.66	4.89	4.89	0.63831	Immunoglobulin-like (1);	0.316154	0.34802	N	0.003679	T	0.54303	0.1850	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.64356	-0.6427	9	.	.	.	-4.8394	13.5602	0.61784	0.0:0.0:1.0:0.0	.	136	Q96A28	SLAF9_HUMAN	A	136	ENSP00000357072:P136A	.	P	-	1	0	SLAMF9	158188934	1.000000	0.71417	0.023000	0.16930	0.001000	0.01503	3.134000	0.50538	2.259000	0.74868	0.650000	0.86243	CCC		PASS	0.517	SLAMF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060630.1	NM_033438		38	117	38	117	---	---	---	---
FCGR2B	2213	broad.mit.edu	37	1	161647118	161647118	+	Splice_Site	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:161647118C>A	ENST00000358671.5	+	7	899	c.818C>A	c.(817-819)gCc>gAc	p.A273D	FCGR2B_ENST00000367960.5_Splice_Site_p.A266D|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000236937.9_Splice_Site_p.A254D|FCGR2B_ENST00000403078.3_Splice_Site_p.A254D|FCGR2B_ENST00000367962.4_Splice_Site_p.A273D|FCGR2B_ENST00000367961.4_Splice_Site_p.A266D	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	273					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A273D(1)				all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTTCCCACAGCCAATCCCACT	0.532			T	?	ALL																																	uc001gaz.1				Dom	yes		1	1q23	2213	T	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""			L	?		ALL		1	Substitution - Missense(1)		lung(1)		0						c.(817-819)GCC>GAC		Fc fragment of IgG, low affinity IIb, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						112.0	108.0	109.0					1																	161647118		2203	4300	6503	SO:0001630	splice_region_variant	2213				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161647118C>A	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3618	protein-coding gene	gene with protein product		604590	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.818-1C>A	1.37:g.161647118C>A						FCGR2B_uc001gay.1_Missense_Mutation_p.A272D|FCGR2B_uc001gba.1_Missense_Mutation_p.A253D|FCGR2B_uc001gbb.1_Missense_Mutation_p.A254D|FCGR2B_uc009wun.1_Missense_Mutation_p.A266D	p.A273D	NM_004001	NP_003992	P31994	FCG2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		7	910	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		273			Cytoplasmic (Potential).		A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Missense_Mutation	SNP	ENST00000358671.5	37	c.818C>A	CCDS30924.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.412070	0.42817	.	.	ENSG00000072694	ENST00000367962;ENST00000367960;ENST00000403078;ENST00000236937;ENST00000367961;ENST00000358671	T;T;T;T;T;T	0.28895	4.71;1.59;4.51;4.51;1.59;4.71	4.52	0.192	0.15134	.	3.546540	0.01202	N	0.007618	T	0.18130	0.0435	L	0.36672	1.1	0.80722	D	1	D;B;B;D	0.56521	0.97;0.153;0.339;0.976	P;B;B;P	0.52957	0.714;0.068;0.118;0.601	T	0.41431	-0.9509	9	.	.	.	.	3.6467	0.08187	0.3507:0.4516:0.0:0.1978	.	266;254;254;273	P31994-3;P31994-2;P31995-2;P31994	.;.;.;FCG2B_HUMAN	D	273;266;254;254;266;273	ENSP00000356939:A273D;ENSP00000356937:A266D;ENSP00000386038:A254D;ENSP00000236937:A254D;ENSP00000356938:A266D;ENSP00000351497:A273D	.	A	+	2	0	FCGR2B	159913742	0.870000	0.30015	0.846000	0.33378	0.961000	0.63080	0.333000	0.19768	0.121000	0.18284	0.561000	0.74099	GCC		PASS	0.532	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4	NM_004001	Missense_Mutation	26	70	26	70	---	---	---	---
ALDH9A1	223	broad.mit.edu	37	1	165649797	165649797	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:165649797G>A	ENST00000354775.4	-	5	1020	c.716C>T	c.(715-717)aCa>aTa	p.T239I	ALDH9A1_ENST00000538148.1_Missense_Mutation_p.T145I|ALDH9A1_ENST00000461664.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	215					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)	p.T215I(1)|p.T239I(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					AAACTGGCCTGTGGCAGCCCC	0.532																																					Ovarian(179;1583 2014 18106 33801 42447)	uc001gdh.1																			2	Substitution - Missense(2)		lung(2)		0						c.(715-717)ACA>ATA		aldehyde dehydrogenase 9A1	NADH(DB00157)						111.0	109.0	110.0					1																	165649797		2203	4300	6503	SO:0001583	missense	223				carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity	g.chr1:165649797G>A	U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"""Aldehyde dehydrogenases"""	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.716C>T	1.37:g.165649797G>A	ENSP00000346827:p.Thr239Ile					ALDH9A1_uc010pky.1_Missense_Mutation_p.T145I|ALDH9A1_uc010pkz.1_Missense_Mutation_p.T229I|ALDH9A1_uc010pla.1_Missense_Mutation_p.T145I	p.T239I	NM_000696	NP_000687	P49189	AL9A1_HUMAN			5	821	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		215					B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Missense_Mutation	SNP	ENST00000354775.4	37	c.716C>T	CCDS1250.2	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684022	0.47991	.	.	ENSG00000143149	ENST00000354775;ENST00000538148	T;T	0.75477	-0.94;-0.94	5.72	4.8	0.61643	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.046450	0.85682	D	0.000000	T	0.71626	0.3362	L	0.28504	0.86	0.52099	D	0.999949	D;D;D;D	0.89917	0.958;0.993;1.0;0.999	D;D;D;D	0.87578	0.946;0.979;0.997;0.998	T	0.75599	-0.3262	9	0.44086	T	0.13	.	13.8838	0.63696	0.0:0.0:0.8464:0.1536	.	145;229;215;239	B4DYY1;B4DX14;P49189;B9EKV4	.;.;AL9A1_HUMAN;.	I	239;145	ENSP00000346827:T239I;ENSP00000440026:T145I	ENSP00000346827:T239I	T	-	2	0	ALDH9A1	163916421	1.000000	0.71417	0.758000	0.31321	0.070000	0.16714	9.569000	0.98170	1.393000	0.46605	-0.182000	0.12963	ACA		PASS	0.532	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083899.1			83	127	83	127	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175054540	175054540	+	Splice_Site	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:175054540G>T	ENST00000239462.4	+	6	1347		c.e6-1			NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N						axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.?(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTTGTTTCCAGGTCTGCACCC	0.597																																						uc001gkl.1																			1	Unknown(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.e6-1		tenascin N precursor							51.0	45.0	47.0					1																	175054540		2203	4300	6503	SO:0001630	splice_region_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175054540G>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1235-1G>T	1.37:g.175054540G>T						TNN_uc010pmx.1_Splice_Site_p.G412_splice	p.G412_splice	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	6	1348	+		Breast(1374;0.000962)						B9EGP3|Q5R360	Splice_Site	SNP	ENST00000239462.4	37	c.1235_splice	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773566	0.69992	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5808	0.95467	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TNN	173321163	1.000000	0.71417	0.998000	0.56505	0.618000	0.37518	8.016000	0.88706	2.706000	0.92434	0.655000	0.94253	.		PASS	0.597	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527	Intron	9	18	9	18	---	---	---	---
RFWD2	64326	broad.mit.edu	37	1	176132955	176132955	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:176132955C>T	ENST00000367669.3	-	4	1152	c.638G>A	c.(637-639)aGc>aAc	p.S213N	RFWD2_ENST00000308769.8_Intron	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	213					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)	p.S213N(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACATACGGTGCTACTCACTGA	0.274																																					Ovarian(134;1413 1765 5706 35534 51541)	uc001gku.1																			1	Substitution - Missense(1)		lung(1)		0						c.(637-639)AGC>AAC		ring finger and WD repeat domain 2 isoform a							50.0	49.0	50.0					1																	176132955		2203	4295	6498	SO:0001583	missense	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176132955C>T	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.638G>A	1.37:g.176132955C>T	ENSP00000356641:p.Ser213Asn					RFWD2_uc001gkv.1_Intron|RFWD2_uc001gkw.1_Intron|RFWD2_uc009wwv.2_5'Flank|RFWD2_uc001gkt.1_Missense_Mutation_p.S72N	p.S213N	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN			4	894	-			213					E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	c.638G>A	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150919	0.37923	.	.	ENSG00000143207	ENST00000367669;ENST00000367666;ENST00000498306;ENST00000436424	T;T;T	0.17691	2.26;2.26;2.26	4.94	4.94	0.65067	.	0.059102	0.64402	D	0.000002	T	0.10594	0.0259	N	0.19112	0.55	0.80722	D	1	P;B	0.39282	0.666;0.17	B;B	0.28991	0.097;0.068	T	0.15838	-1.0423	10	0.34782	T	0.22	-11.6689	16.308	0.82856	0.0:1.0:0.0:0.0	.	213;213	Q8NHY2;Q504W6	RFWD2_HUMAN;.	N	213;68;72;213	ENSP00000356641:S213N;ENSP00000356638:S68N;ENSP00000433810:S72N	ENSP00000356638:S68N	S	-	2	0	RFWD2	174399578	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.684000	0.37649	2.438000	0.82558	0.591000	0.81541	AGC		PASS	0.274	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		35	43	35	43	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176564618	176564618	+	Silent	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:176564618G>A	ENST00000367662.3	+	3	3042	c.1878G>A	c.(1876-1878)ggG>ggA	p.G626G	PAPPA2_ENST00000367661.3_Silent_p.G626G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	626	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G626G(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCAGGGATGGGCTCTGTCACG	0.602																																						uc001gkz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1876-1878)GGG>GGA		pappalysin 2 isoform 1							72.0	77.0	75.0					1																	176564618		2149	4250	6399	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564618G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1878G>A	1.37:g.176564618G>A						PAPPA2_uc001gky.1_Silent_p.G626G|PAPPA2_uc009www.2_RNA	p.G626G	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	3042	+			626			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.1878G>A	CCDS41438.1																																																																																				PASS	0.602	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			12	83	12	83	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190423895	190423895	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:190423895G>T	ENST00000367462.3	-	2	357	c.126C>A	c.(124-126)agC>agA	p.S42R	BRINP3_ENST00000534846.1_Missense_Mutation_p.A4D	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	42					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.S42R(1)									AGTCGAAGGGGCTTGTGGCAT	0.502																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(124-126)AGC>AGA		family with sequence similarity 5, member C							85.0	82.0	83.0					1																	190423895		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190423895G>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.126C>A	1.37:g.190423895G>T	ENSP00000356432:p.Ser42Arg					FAM5C_uc010pot.1_Missense_Mutation_p.A4D	p.S42R	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			2	358	-	Prostate(682;0.198)		42					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.126C>A	CCDS1373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.90|18.90	3.722240|3.722240	0.68959|0.68959	.|.	.|.	ENSG00000162670|ENSG00000162670	ENST00000534846|ENST00000367462;ENST00000445957	T|T;T	0.18174|0.46063	2.23|2.52;0.88	5.42|5.42	1.26|1.26	0.21427|0.21427	.|.	.|0.051914	.|0.85682	.|D	.|0.000000	T|T	0.15349|0.15349	0.0370|0.0370	N|N	0.08118|0.08118	0|0	0.22280|0.22280	N|N	0.999238|0.999238	B|B	0.31859|0.33694	0.343|0.421	B|B	0.38194|0.26969	0.267|0.075	T|T	0.15292|0.15292	-1.0442|-1.0442	9|10	0.87932|0.20046	D|T	0|0.44	.|.	4.7816|4.7816	0.13204|0.13204	0.35:0.1493:0.5007:0.0|0.35:0.1493:0.5007:0.0	.|.	4|42	B7Z260|Q76B58	.|FAM5C_HUMAN	D|R	4|42	ENSP00000438022:A4D|ENSP00000356432:S42R;ENSP00000393441:S42R	ENSP00000438022:A4D|ENSP00000356432:S42R	A|S	-|-	2|3	0|2	FAM5C|FAM5C	188690518|188690518	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	1.013000|1.013000	0.29937|0.29937	0.232000|0.232000	0.21100|0.21100	-0.175000|-0.175000	0.13238|0.13238	GCC|AGC		PASS	0.502	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		25	49	25	49	---	---	---	---
RGS18	64407	broad.mit.edu	37	1	192150519	192150519	+	Silent	SNP	A	A	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:192150519A>T	ENST00000367460.3	+	4	562	c.381A>T	c.(379-381)ggA>ggT	p.G127G		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	127	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.G127G(1)		kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAAGCAAGGGACCTCAACAAA	0.328																																						uc001gsg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(379-381)GGA>GGT		regulator of G-protein signalling 18							48.0	51.0	50.0					1																	192150519		2200	4288	6488	SO:0001819	synonymous_variant	64407				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192150519A>T	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"""Regulators of G-protein signaling"""	14261	protein-coding gene	gene with protein product		607192	"""regulator of G-protein signalling 18"""			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.381A>T	1.37:g.192150519A>T							p.G127G	NM_130782	NP_570138	Q9NS28	RGS18_HUMAN			4	557	+			127			RGS.		B2RD23	Silent	SNP	ENST00000367460.3	37	c.381A>T	CCDS1374.1																																																																																				PASS	0.328	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		4	98	4	98	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216260067	216260067	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:216260067C>A	ENST00000307340.3	-	24	5367	c.4981G>T	c.(4981-4983)Gat>Tat	p.D1661Y	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.D1661Y|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1661	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.D1661Y(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCACCAGGATCCTTCCTGAGG	0.383										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(4981-4983)GAT>TAT		usherin isoform B							52.0	50.0	51.0					1																	216260067		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216260067C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4981G>T	1.37:g.216260067C>A	ENSP00000305941:p.Asp1661Tyr	HNSCC(13;0.011)					p.D1661Y	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	24	5368	-			1661			Laminin G-like 1.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.4981G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657824	0.47467	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.77750	-1.12;-1.12	5.21	3.32	0.38043	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.395398	0.19669	N	0.108808	D	0.83547	0.5278	M	0.67953	2.075	0.40324	D	0.978855	D	0.65815	0.995	D	0.65323	0.934	T	0.81837	-0.0749	10	0.51188	T	0.08	.	8.9538	0.35805	0.0:0.827:0.0:0.173	.	1661	O75445	USH2A_HUMAN	Y	1661	ENSP00000305941:D1661Y;ENSP00000355910:D1661Y	ENSP00000305941:D1661Y	D	-	1	0	USH2A	214326690	1.000000	0.71417	0.417000	0.26559	0.374000	0.29953	3.261000	0.51530	0.558000	0.29135	0.561000	0.74099	GAT		PASS	0.383	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		33	58	33	58	---	---	---	---
ACTN2	88	broad.mit.edu	37	1	236883405	236883405	+	Splice_Site	SNP	A	A	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:236883405A>C	ENST00000366578.4	+	4	528	c.362A>C	c.(361-363)gAa>gCa	p.E121A	ACTN2_ENST00000542672.1_Splice_Site_p.E121A|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	121	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.E121A(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TTACCTGCAGAAATTGTTGAT	0.353																																						uc001hyf.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(361-363)GAA>GCA		actinin, alpha 2							116.0	109.0	112.0					1																	236883405		2203	4300	6503	SO:0001630	splice_region_variant	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236883405A>C	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.362-1A>C	1.37:g.236883405A>C						ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Missense_Mutation_p.E121A	p.E121A	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		4	566	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	121			CH 1.|Actin-binding.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.362A>C	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.603971	0.87157	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	T;T	0.60424	0.19;0.19	5.82	5.82	0.92795	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.044508	0.85682	D	0.000000	T	0.69602	0.3129	L	0.49126	1.545	0.80722	D	1	D;B	0.56968	0.978;0.068	D;B	0.65684	0.937;0.212	T	0.67979	-0.5530	9	.	.	.	.	15.8454	0.78883	1.0:0.0:0.0:0.0	.	121;121	B2RCS5;P35609	.;ACTN2_HUMAN	A	121	ENSP00000443495:E121A;ENSP00000355537:E121A	.	E	+	2	0	ACTN2	234950028	1.000000	0.71417	0.997000	0.53966	0.845000	0.48019	8.878000	0.92393	2.222000	0.72286	0.533000	0.62120	GAA		PASS	0.353	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103	Missense_Mutation	34	74	34	74	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237893559	237893560	+	Splice_Site	DNP	GG	GG	TT			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:237893559_237893560GG>TT	ENST00000366574.2	+	77	11155_11156	c.10838_10839GG>TT	c.(10837-10839)aGG>aTT	p.R3613I	RYR2_ENST00000542537.1_Splice_Site_p.R3597I|RYR2_ENST00000360064.6_Splice_Site_p.R3611I|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3613					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.?(2)|p.R3611S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTACCTTTCAGGCATCGGGCTG	0.337																																						uc001hyl.1																			3	Unknown(2)|Substitution - Missense(1)		lung(3)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.e77-1|c.(10837-10839)AGG>AGT		cardiac muscle ryanodine receptor																																				SO:0001630	splice_region_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237893559G>T|g.chr1:237893560G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	Exception_encountered	1.37:g.237893559_237893560delinsTT						RYR2_uc010pya.1_Splice_Site_p.R9_splice|RYR2_uc010pya.1_Missense_Mutation_p.R9S	p.R3613_splice|p.R3613S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		77	10959	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	|3613					Q15411|Q546N8|Q5T3P2	Splice_Site|Missense_Mutation	SNP	ENST00000366574.2	37	c.10839_splice|c.10839G>T	CCDS55691.1																																																																																				PASS	0.337	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Missense_Mutation	30|29	33|34	29	33	---	---	---	---
ZP4	57829	broad.mit.edu	37	1	238048518	238048518	+	Missense_Mutation	SNP	A	A	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr1:238048518A>C	ENST00000366570.4	-	9	1416	c.1258T>G	c.(1258-1260)Ttc>Gtc	p.F420V	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	420	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.F420V(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CTGAAGGTGAAGATGCTGAAG	0.547																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1258-1260)TTC>GTC		zona pellucida glycoprotein 4 preproprotein							94.0	94.0	94.0					1																	238048518		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238048518A>C	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1258T>G	1.37:g.238048518A>C	ENSP00000355529:p.Phe420Val					LOC100130331_uc010pyc.1_Intron	p.F420V	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		9	1258	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	420			ZP.|Extracellular (Potential).		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.1258T>G	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	A	5.126	0.208867	0.09757	.	.	ENSG00000116996	ENST00000366570	D	0.81739	-1.53	5.1	-1.58	0.08479	Zona pellucida sperm-binding protein (3);	0.389540	0.24764	N	0.035800	T	0.70351	0.3214	L	0.57536	1.79	0.09310	N	1	B	0.33345	0.409	B	0.41135	0.348	T	0.54344	-0.8308	10	0.17369	T	0.5	-8.2645	0.2678	0.00227	0.3669:0.136:0.1866:0.3105	.	420	Q12836	ZP4_HUMAN	V	420	ENSP00000355529:F420V	ENSP00000355529:F420V	F	-	1	0	ZP4	236115141	0.006000	0.16342	0.083000	0.20561	0.220000	0.24768	0.610000	0.24253	0.259000	0.21709	0.533000	0.62120	TTC		PASS	0.547	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			27	86	27	86	---	---	---	---
CAD	790	broad.mit.edu	37	2	27448094	27448094	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:27448094G>T	ENST00000403525.1	+	11	1747	c.1603G>T	c.(1603-1605)Gca>Tca	p.A535S	CAD_ENST00000264705.4_Missense_Mutation_p.A535S			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.A535S(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCGAGGCAGCAAATTCTCT	0.478																																						uc002rji.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(1603-1605)GCA>TCA		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						23.0	24.0	23.0					2																	27448094		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27448094G>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1603G>T	2.37:g.27448094G>T	ENSP00000384510:p.Ala535Ser					CAD_uc010eyw.2_Missense_Mutation_p.A535S	p.A535S	NM_004341	NP_004332	P27708	PYR1_HUMAN			11	1765	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		535	A -> G (in Ref. 1; BAA11423).		CPSase (Carbamoyl-phosphate synthase).|CPSase A.|ATP-grasp 1.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.1603G>T		.	.	.	.	.	.	.	.	.	.	G	28.8	4.955796	0.92726	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97688	-4.49;-4.49	5.48	5.48	0.80851	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.100125	0.64402	D	0.000002	D	0.99336	0.9767	H	0.98951	4.38	0.58432	D	0.999999	D;D	0.76494	0.999;0.98	D;P	0.73708	0.981;0.782	D	0.98498	1.0613	10	0.72032	D	0.01	-1.1273	17.9026	0.88909	0.0:0.0:1.0:0.0	.	535;535	F8VPD4;P27708	.;PYR1_HUMAN	S	535	ENSP00000264705:A535S;ENSP00000384510:A535S	ENSP00000264705:A535S	A	+	1	0	CAD	27301598	1.000000	0.71417	0.344000	0.25628	0.977000	0.68977	8.820000	0.92003	2.564000	0.86499	0.462000	0.41574	GCA		PASS	0.478	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			17	24	17	24	---	---	---	---
BRE	9577	broad.mit.edu	37	2	28521252	28521252	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:28521252C>T	ENST00000342045.2	+	12	1123	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	BRE_ENST00000379624.1_Nonsense_Mutation_p.Q328*|BRE_ENST00000361704.2_Nonsense_Mutation_p.Q328*|BRE_ENST00000379632.2_Nonsense_Mutation_p.Q328*|BRE_ENST00000344773.2_Nonsense_Mutation_p.Q328*	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)									p.Q328*(9)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TCTCACATTTCAGTCCGTTTA	0.428																																						uc002rlr.2																			9	Substitution - Nonsense(9)		lung(9)	lung(1)|kidney(1)|skin(1)	3						c.(982-984)CAG>TAG		brain and reproductive organ-expressed (TNFRSF1A							195.0	199.0	197.0					2																	28521252		2203	4300	6503	SO:0001587	stop_gained	9577				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	g.chr2:28521252C>T	AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.982C>T	2.37:g.28521252C>T	ENSP00000339371:p.Gln328*					BRE_uc002rlp.1_Nonsense_Mutation_p.Q328*|BRE_uc002rlq.2_Nonsense_Mutation_p.Q328*|BRE_uc002rls.2_Nonsense_Mutation_p.Q328*|BRE_uc002rlt.2_Nonsense_Mutation_p.Q328*|BRE_uc002rlu.2_Nonsense_Mutation_p.Q328*|BRE_uc002rlv.2_Nonsense_Mutation_p.Q190*|BRE_uc002rlx.2_RNA	p.Q328*	NM_199194	NP_954664	Q9NXR7	BRE_HUMAN			12	1300	+	Acute lymphoblastic leukemia(172;0.155)		328			UEV-like 2.			Nonsense_Mutation	SNP	ENST00000342045.2	37	c.982C>T	CCDS1763.1	.	.	.	.	.	.	.	.	.	.	C	37	6.183419	0.97357	.	.	ENSG00000158019	ENST00000344773;ENST00000379624;ENST00000342045;ENST00000379632;ENST00000361704;ENST00000379623	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-14.5228	19.6276	0.95684	0.0:1.0:0.0:0.0	.	.	.	.	X	328;328;328;328;328;230	.	ENSP00000339371:Q328X	Q	+	1	0	BRE	28374756	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.794000	0.85869	2.652000	0.90054	0.655000	0.94253	CAG		PASS	0.428	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215114.1			9	288	9	288	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32664696	32664696	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:32664696A>T	ENST00000421745.2	+	16	3886	c.3752A>T	c.(3751-3753)cAc>cTc	p.H1251L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1251					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.H1223L(1)|p.H1251L(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCCCTAAAACACCAGAGTAAC	0.388																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(3751-3753)CAC>CTC		baculoviral IAP repeat-containing 6							115.0	94.0	101.0					2																	32664696		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32664696A>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.3752A>T	2.37:g.32664696A>T	ENSP00000393596:p.His1251Leu						p.H1251L	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			16	3886	+	Acute lymphoblastic leukemia(172;0.155)		1251					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.3752A>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	14.97	2.694336	0.48202	.	.	ENSG00000115760	ENST00000421745;ENST00000444173	T	0.73363	-0.74	4.77	2.08	0.27032	.	0.349967	0.29040	N	0.013331	T	0.52289	0.1725	N	0.14661	0.345	0.33937	D	0.642736	B	0.14012	0.009	B	0.09377	0.004	T	0.51576	-0.8688	10	0.09590	T	0.72	.	11.7769	0.51991	0.3763:0.6237:0.0:0.0	.	1251	Q9NR09	BIRC6_HUMAN	L	1251;137	ENSP00000393596:H1251L	ENSP00000393596:H1251L	H	+	2	0	BIRC6	32518200	0.996000	0.38824	0.998000	0.56505	0.990000	0.78478	3.501000	0.53325	0.738000	0.32606	0.528000	0.53228	CAC		PASS	0.388	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		11	52	11	52	---	---	---	---
FSHR	2492	broad.mit.edu	37	2	49190433	49190433	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:49190433G>T	ENST00000406846.2	-	10	1646	c.1527C>A	c.(1525-1527)agC>agA	p.S509R	FSHR_ENST00000304421.4_Missense_Mutation_p.S483R|FSHR_ENST00000541117.1_Missense_Mutation_p.S245R|FSHR_ENST00000346173.3_Missense_Mutation_p.S447R	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	509					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.S509R(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TCATGTAGCTGCTGATGCCAA	0.532									Gonadal Dysgenesis, 46 XX																													uc002rww.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(1525-1527)AGC>AGA		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						92.0	72.0	78.0					2																	49190433		2203	4300	6503	SO:0001583	missense	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190433G>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1527C>A	2.37:g.49190433G>T	ENSP00000384708:p.Ser509Arg					FSHR_uc002rwx.2_Missense_Mutation_p.S447R|FSHR_uc010fbn.2_Missense_Mutation_p.S483R	p.S509R	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1601	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	509			Extracellular (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.1527C>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939083	0.52972	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.35	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83018	0.5163	M	0.87758	2.905	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.82906	-0.0225	9	.	.	.	.	8.408	0.32627	0.3198:0.0:0.6802:0.0	.	483;447;509	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	R	509;447;483;245	ENSP00000384708:S509R;ENSP00000333908:S447R;ENSP00000306780:S483R;ENSP00000444172:S245R	.	S	-	3	2	FSHR	49043937	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.295000	0.43576	0.899000	0.36444	0.655000	0.94253	AGC		PASS	0.532	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			6	24	6	24	---	---	---	---
CHAC2	494143	broad.mit.edu	37	2	54001636	54001636	+	Missense_Mutation	SNP	G	G	C	rs74780760	byFrequency	TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:54001636G>C	ENST00000295304.4	+	3	624	c.529G>C	c.(529-531)Ggg>Cgg	p.G177R	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000263634.3_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000394717.2_Intron	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)	177								p.G177R(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACGTTTAGAAGGGAAACAGAA	0.323																																						uc002rxk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(529-531)GGG>CGG		ChaC, cation transport regulator-like 2							46.0	48.0	47.0					2																	54001636		2203	4300	6503	SO:0001583	missense	494143							g.chr2:54001636G>C	BC025376	CCDS33196.1	2p16	2013-09-12	2006-09-12		ENSG00000143942	ENSG00000143942			32363	protein-coding gene	gene with protein product	"""gamma-GCT acting on glutathione homolog 2"""		"""ChaC, cation transport regulator-like 2 (E. coli)"""			23070364	Standard	NM_001008708		Approved		uc002rxk.1	Q8WUX2	OTTHUMG00000151824	ENST00000295304.4:c.529G>C	2.37:g.54001636G>C	ENSP00000295304:p.Gly177Arg					ASB3_uc002rxg.1_Intron|ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_Intron	p.G177R	NM_001008708	NP_001008708	Q8WUX2	CHAC2_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		3	624	+			177					Q8WVI8	Missense_Mutation	SNP	ENST00000295304.4	37	c.529G>C	CCDS33196.1	.	.	.	.	.	.	.	.	.	.	G	7.736	0.700343	0.15106	.	.	ENSG00000143942	ENST00000295304	T	0.40756	1.02	6.03	1.93	0.25924	.	1.053540	0.07234	N	0.863142	T	0.15696	0.0378	N	0.01352	-0.895	0.26891	N	0.967315	B	0.02656	0.0	B	0.01281	0.0	T	0.24835	-1.0149	10	0.17369	T	0.5	-0.0791	7.0765	0.25207	0.3034:0.1352:0.5614:0.0	.	177	Q8WUX2	CHAC2_HUMAN	R	177	ENSP00000295304:G177R	ENSP00000295304:G177R	G	+	1	0	CHAC2	53855140	0.962000	0.33011	1.000000	0.80357	0.945000	0.59286	0.802000	0.27069	0.822000	0.34565	0.655000	0.94253	GGG		PASS	0.323	CHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324072.1	NM_001008708		24	45	24	45	---	---	---	---
CLEC4F	165530	broad.mit.edu	37	2	71046962	71046962	+	Silent	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:71046962G>A	ENST00000272367.2	-	2	199	c.123C>T	c.(121-123)acC>acT	p.T41T	CLEC4F_ENST00000426626.1_Silent_p.T41T	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	41					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.T41T(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TAAATGCCGGGGTAGCCTGAA	0.552																																					Colon(107;10 2157 6841 26035)	uc002shf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(121-123)ACC>ACT		C-type lectin, superfamily member 13							59.0	59.0	59.0					2																	71046962		2203	4300	6503	SO:0001819	synonymous_variant	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71046962G>A	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.123C>T	2.37:g.71046962G>A						CLEC4F_uc010yqv.1_Silent_p.T41T	p.T41T	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN			2	200	-			41			Helical; Signal-anchor for type II membrane protein; (Potential).		A4QPA5	Silent	SNP	ENST00000272367.2	37	c.123C>T	CCDS1910.1																																																																																				PASS	0.552	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		8	49	8	49	---	---	---	---
LRRTM4	80059	broad.mit.edu	37	2	77745534	77745534	+	Silent	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:77745534G>A	ENST00000409093.1	-	3	1797	c.1461C>T	c.(1459-1461)gaC>gaT	p.D487D	LRRTM4_ENST00000409088.3_Silent_p.D487D|LRRTM4_ENST00000409282.1_Silent_p.D488D|LRRTM4_ENST00000409911.1_Silent_p.D488D|LRRTM4_ENST00000409884.1_Silent_p.D487D			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	487					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.D487D(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TAGGCTTGTAGTCCACATAAT	0.458																																						uc002snr.2																			2	Substitution - coding silent(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(1459-1461)GAC>GAT		leucine rich repeat transmembrane neuronal 4							92.0	91.0	91.0					2																	77745534		1874	4110	5984	SO:0001819	synonymous_variant	80059					integral to membrane		g.chr2:77745534G>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1461C>T	2.37:g.77745534G>A						LRRTM4_uc002snq.2_Silent_p.D487D|LRRTM4_uc002sns.2_Silent_p.D487D|LRRTM4_uc002snt.2_Silent_p.D488D	p.D487D	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1876	-			487			Cytoplasmic (Potential).		Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	c.1461C>T	CCDS46346.1																																																																																				PASS	0.458	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		11	39	11	39	---	---	---	---
REG3A	5068	broad.mit.edu	37	2	79385824	79385824	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:79385824G>T	ENST00000409839.3	-	3	184	c.148C>A	c.(148-150)Cac>Aac	p.H50N	AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.H50N|REG3A_ENST00000393878.1_Missense_Mutation_p.H50N	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	50	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)	p.H50N(2)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GCATAGCAGTGGGAGCCATAG	0.567																																						uc002sod.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	skin(1)	1						c.(148-150)CAC>AAC		pancreatitis-associated protein precursor							110.0	98.0	102.0					2																	79385824		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79385824G>T	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.148C>A	2.37:g.79385824G>T	ENSP00000386630:p.His50Asn					REG3A_uc002soe.1_Missense_Mutation_p.H50N|REG3A_uc002sof.1_Missense_Mutation_p.H50N	p.H50N	NM_138938	NP_620355	Q06141	REG3A_HUMAN			2	403	-			50			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.148C>A	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.552625	0.27739	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.14266	2.52;2.52;2.52	3.87	-3.59	0.04583	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.576639	0.15737	N	0.247095	T	0.09730	0.0239	L	0.46885	1.475	0.09310	N	1	B	0.11235	0.004	B	0.15870	0.014	T	0.19386	-1.0307	10	0.49607	T	0.09	.	5.3159	0.15854	0.6087:0.0:0.2351:0.1562	.	50	Q06141	REG3A_HUMAN	N	50	ENSP00000386630:H50N;ENSP00000377456:H50N;ENSP00000304311:H50N	ENSP00000304311:H50N	H	-	1	0	REG3A	79239332	0.707000	0.27866	0.042000	0.18584	0.027000	0.11550	-0.289000	0.08365	-0.814000	0.04352	-0.199000	0.12753	CAC		PASS	0.567	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		23	43	23	43	---	---	---	---
IGKV3-15	28913	broad.mit.edu	37	2	89384752	89384752	+	RNA	SNP	G	G	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:89384752G>C	ENST00000390252.2	-	0	362									immunoglobulin kappa variable 3-15																		AGTGAACTCTGTCCCAGACCC	0.522																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							39.0	37.0	37.0					2																	89384752		1859	4084	5943			0							g.chr2:89384752G>C	M23090		2p11.2	2012-02-08			ENSG00000244437	ENSG00000244437		"""Immunoglobulins / IGK locus"""	5816	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151653		2.37:g.89384752G>C						uc002stl.2_Intron								50		-									RNA	SNP	ENST00000390252.2	37	c.5388C>G																																																																																					PASS	0.522	IGKV3-15-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323402.1	NG_000834		11	79	11	79	---	---	---	---
FAHD2B	151313	broad.mit.edu	37	2	97749943	97749943	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:97749943C>T	ENST00000414820.1	-	7	1027	c.757G>A	c.(757-759)Gta>Ata	p.V253I	FAHD2B_ENST00000272610.3_Missense_Mutation_p.V253I|FAHD2B_ENST00000440566.2_Missense_Mutation_p.V253I|FAHD2B_ENST00000468548.1_5'Flank			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	253							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.V253I(1)		kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						GTCTTGAATACCATCTGGTTG	0.542																																						uc002sxm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(757-759)GTA>ATA		fumarylacetoacetate hydrolase domain containing							115.0	111.0	112.0					2																	97749943		2203	4300	6503	SO:0001583	missense	151313						hydrolase activity|metal ion binding	g.chr2:97749943C>T		CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.757G>A	2.37:g.97749943C>T	ENSP00000410470:p.Val253Ile						p.V253I	NM_199336	NP_955368	Q6P2I3	FAH2B_HUMAN			6	908	-			253					D3DXH7|Q8NDK1	Missense_Mutation	SNP	ENST00000414820.1	37	c.757G>A	CCDS2030.1	.	.	.	.	.	.	.	.	.	.	c	0.011	-1.736459	0.00681	.	.	ENSG00000144199	ENST00000414820;ENST00000272610;ENST00000440566	D;D;D	0.93859	-3.3;-3.3;-3.3	1.26	1.26	0.21427	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.134843	0.49916	D	0.000129	T	0.73845	0.3639	N	0.00778	-1.195	0.30449	N	0.775457	P	0.39443	0.674	B	0.39531	0.302	T	0.78112	-0.2331	10	0.02654	T	1	.	8.0482	0.30562	0.0:1.0:0.0:0.0	.	253	Q6P2I3	FAH2B_HUMAN	I	253	ENSP00000410470:V253I;ENSP00000272610:V253I;ENSP00000444599:V253I	ENSP00000272610:V253I	V	-	1	0	FAHD2B	97113670	1.000000	0.71417	0.985000	0.45067	0.302000	0.27658	1.773000	0.38563	0.663000	0.31027	0.184000	0.17185	GTA		PASS	0.542	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339482.1	NM_199336		25	104	25	104	---	---	---	---
ST6GAL2	84620	broad.mit.edu	37	2	107423321	107423321	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:107423321T>C	ENST00000409382.3	-	6	2013	c.1403A>G	c.(1402-1404)tAc>tGc	p.Y468C	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.Y468C	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	468					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.Y468C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CAGCTCGTGGTAGTGGCACAG	0.562																																						uc002tdq.2																			1	Substitution - Missense(1)		lung(1)	pancreas(6)|ovary(4)|skin(1)	11						c.(1402-1404)TAC>TGC		ST6 beta-galactosamide							77.0	69.0	72.0					2																	107423321		2203	4300	6503	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107423321T>C	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1403A>G	2.37:g.107423321T>C	ENSP00000386942:p.Tyr468Cys					ST6GAL2_uc002tdr.2_Missense_Mutation_p.Y468C	p.Y468C	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			6	1522	-			468			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.1403A>G	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.673758	0.88445	.	.	ENSG00000144057	ENST00000361686;ENST00000409382	T;T	0.71698	-0.59;-0.59	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.89476	0.6726	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92835	0.6283	10	0.87932	D	0	-37.264	15.3361	0.74255	0.0:0.0:0.0:1.0	.	468	Q96JF0	SIAT2_HUMAN	C	468	ENSP00000355273:Y468C;ENSP00000386942:Y468C	ENSP00000355273:Y468C	Y	-	2	0	ST6GAL2	106789753	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.958000	0.87877	2.209000	0.71365	0.533000	0.62120	TAC		PASS	0.562	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		12	48	12	48	---	---	---	---
SLC35F5	80255	broad.mit.edu	37	2	114503904	114503904	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:114503904C>G	ENST00000245680.2	-	5	843	c.430G>C	c.(430-432)Gaa>Caa	p.E144Q	SLC35F5_ENST00000409342.1_Missense_Mutation_p.E138Q	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	144					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.E144Q(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AAGTAACCTTCAGCATCTGCA	0.368																																						uc002tku.1																			1	Substitution - Missense(1)		lung(1)		0						c.(430-432)GAA>CAA		solute carrier family 35, member F5							101.0	91.0	94.0					2																	114503904		2203	4300	6503	SO:0001583	missense	80255				transport	integral to membrane		g.chr2:114503904C>G	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.430G>C	2.37:g.114503904C>G	ENSP00000245680:p.Glu144Gln					SLC35F5_uc002tkt.2_RNA|SLC35F5_uc002tkv.2_Missense_Mutation_p.E138Q|SLC35F5_uc002tkw.2_Missense_Mutation_p.E144Q	p.E144Q	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN			5	854	-			144					Q9H6P8|Q9H7D8	Missense_Mutation	SNP	ENST00000245680.2	37	c.430G>C	CCDS2119.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461216	0.84317	.	.	ENSG00000115084	ENST00000245680;ENST00000409106;ENST00000409342	T;T	0.48522	0.81;0.82	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	L	0.49126	1.545	0.58432	D	0.999995	D;D;D	0.76494	0.998;0.999;0.993	D;D;D	0.78314	0.991;0.929;0.968	T	0.62595	-0.6821	10	0.46703	T	0.11	-17.9243	17.4337	0.87545	0.0:1.0:0.0:0.0	.	144;138;144	B2RDY0;B8ZZV6;Q8WV83	.;.;S35F5_HUMAN	Q	144;138;138	ENSP00000245680:E144Q;ENSP00000386754:E138Q	ENSP00000245680:E144Q	E	-	1	0	SLC35F5	114220374	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.627000	0.74258	2.532000	0.85374	0.563000	0.77884	GAA		PASS	0.368	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		39	51	39	51	---	---	---	---
AMER3	205147	broad.mit.edu	37	2	131520539	131520539	+	Silent	SNP	C	C	A	rs140458255		TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:131520539C>A	ENST00000423981.1	+	2	1004	c.894C>A	c.(892-894)ccC>ccA	p.P298P	AMER3_ENST00000321420.4_Silent_p.P298P	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	298					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.P298P(1)									TGGCCTCGCCCGCCCAGAATG	0.657																																						uc002trw.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(892-894)CCC>CCA		hypothetical protein LOC205147							27.0	32.0	30.0					2																	131520539		2200	4297	6497	SO:0001819	synonymous_variant	205147							g.chr2:131520539C>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.894C>A	2.37:g.131520539C>A						FAM123C_uc010fmv.2_Silent_p.P298P|FAM123C_uc010fms.1_Silent_p.P298P|FAM123C_uc010fmt.1_Silent_p.P298P|FAM123C_uc010fmu.1_Silent_p.P298P	p.P298P	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1084	+	Colorectal(110;0.1)		298					B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.894C>A	CCDS2164.1																																																																																				PASS	0.657	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		21	31	21	31	---	---	---	---
POTEE	445582	broad.mit.edu	37	2	132021476	132021476	+	Silent	SNP	C	C	T	rs377636713		TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:132021476C>T	ENST00000356920.5	+	15	2542	c.2448C>T	c.(2446-2448)cgC>cgT	p.R816R	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	816	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.R816R(1)									AGGCCAACCGCGAGAAGATGA	0.607																																						uc002tsn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2446-2448)CGC>CGT		protein expressed in prostate, ovary, testis,		T		0,4244		0,0,2122	79.0	82.0	81.0		2448		0.2	2		81	2,8358		0,2,4178	no	coding-synonymous	POTEE	NM_001083538.1		0,2,6300	TT,TC,CC		0.0239,0.0,0.0159		816/1076	132021476	2,12602	2122	4180	6302	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:132021476C>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2448C>T	2.37:g.132021476C>T						PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.R416R|POTEE_uc002tsl.2_Silent_p.R398R|POTEE_uc010fmy.1_Silent_p.R280R	p.R816R	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			15	2500	+			816			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.2448C>T	CCDS46414.1																																																																																				PASS	0.607	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		25	191	25	191	---	---	---	---
LYPD1	116372	broad.mit.edu	37	2	133427492	133427492	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:133427492C>A	ENST00000397463.2	-	1	286	c.14G>T	c.(13-15)gGc>gTc	p.G5V	AC010974.3_ENST00000450509.1_RNA|LYPD1_ENST00000345008.6_Intron	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1	5						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.G5V(1)		lung(2)	2						TGCCGCGATGCCTAGGACCCA	0.657																																						uc002ttn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(13-15)GGC>GTC		LY6/PLAUR domain containing 1 isoform a							48.0	55.0	53.0					2																	133427492		1983	4155	6138	SO:0001583	missense	116372					anchored to membrane|plasma membrane		g.chr2:133427492C>A	AK075487	CCDS42759.1, CCDS46416.1	2q21.2	2008-02-05		2005-08-30	ENSG00000150551	ENSG00000150551			28431	protein-coding gene	gene with protein product		610450		LYPDC1		12477932	Standard	NM_144586		Approved	MGC29643	uc002ttn.3	Q8N2G4	OTTHUMG00000153609	ENST00000397463.2:c.14G>T	2.37:g.133427492C>A	ENSP00000380605:p.Gly5Val					LYPD1_uc002ttm.3_Missense_Mutation_p.S21I|LYPD1_uc002tto.2_Intron	p.G5V	NM_144586	NP_653187	Q8N2G4	LYPD1_HUMAN			1	990	-			5					H7BXW6|Q6ZP52|Q6ZWI4|Q96AC2	Missense_Mutation	SNP	ENST00000397463.2	37	c.14G>T	CCDS42759.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925217	0.52759	.	.	ENSG00000150551	ENST00000409034;ENST00000397463	D	0.81579	-1.51	5.52	5.52	0.82312	.	0.393144	0.23805	N	0.044397	T	0.67608	0.2911	N	0.14661	0.345	0.80722	D	1	D	0.53312	0.959	B	0.41813	0.367	T	0.73789	-0.3872	10	0.72032	D	0.01	-5.8651	12.6673	0.56849	0.0:0.834:0.166:0.0	.	5	Q8N2G4	LYPD1_HUMAN	V	28;5	ENSP00000380605:G5V	ENSP00000380605:G5V	G	-	2	0	LYPD1	133143962	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	1.315000	0.33608	2.601000	0.87937	0.313000	0.20887	GGC		PASS	0.657	LYPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331821.1	NM_144586		3	33	3	33	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141707967	141707967	+	Silent	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:141707967G>A	ENST00000389484.3	-	20	3944	c.2973C>T	c.(2971-2973)gaC>gaT	p.D991D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	991	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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.D991D(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)		CCCCACAGTCGTCATCTGGAA	0.438										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.(2971-2973)GAC>GAT		low density lipoprotein-related protein 1B							91.0	66.0	75.0					2																	141707967		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141707967G>A	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.2973C>T	2.37:g.141707967G>A		TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Silent_p.D173D	p.D991D	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)	20	3945	-		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)	991			Extracellular (Potential).|LDL-receptor class A 6.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.2973C>T	CCDS2182.1																																																																																				PASS	0.438	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		15	36	15	36	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152520262	152520262	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:152520262C>A	ENST00000172853.10	-	45	5710	c.5563G>T	c.(5563-5565)Gac>Tac	p.D1855Y	NEB_ENST00000397345.3_Missense_Mutation_p.D1855Y|NEB_ENST00000409198.1_Missense_Mutation_p.D1855Y|NEB_ENST00000603639.1_Missense_Mutation_p.D1855Y|NEB_ENST00000604864.1_Missense_Mutation_p.D1855Y|NEB_ENST00000427231.2_Missense_Mutation_p.D1855Y			P20929	NEBU_HUMAN	nebulin	1855					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.D1855Y(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TATTCCCGGTCTGACTGCATC	0.532																																						uc010fnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(5563-5565)GAC>TAC		nebulin isoform 3							103.0	101.0	102.0					2																	152520262		1991	4171	6162	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152520262C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.5563G>T	2.37:g.152520262C>A	ENSP00000172853:p.Asp1855Tyr						p.D1855Y	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	45	5754	-			1855			Nebulin 48.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.5563G>T		.	.	.	.	.	.	.	.	.	.	C	22.7	4.320213	0.81469	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.55	5.55	0.83447	.	0.233419	0.44688	D	0.000437	T	0.80644	0.4662	M	0.87097	2.86	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.83223	-0.0067	10	0.87932	D	0	.	19.864	0.96798	0.0:1.0:0.0:0.0	.	1855	P20929	NEBU_HUMAN	Y	1855	ENSP00000386259:D1855Y;ENSP00000380505:D1855Y;ENSP00000416578:D1855Y;ENSP00000172853:D1855Y	ENSP00000172853:D1855Y	D	-	1	0	NEB	152228508	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.776000	0.85560	2.772000	0.95346	0.650000	0.86243	GAC		PASS	0.532	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		27	51	27	51	---	---	---	---
ACVR1C	130399	broad.mit.edu	37	2	158401074	158401074	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:158401074C>A	ENST00000243349.8	-	5	1186	c.826G>T	c.(826-828)Ggc>Tgc	p.G276C	ACVR1C_ENST00000335450.7_Missense_Mutation_p.G196C|ACVR1C_ENST00000348328.5_Missense_Mutation_p.G119C|ACVR1C_ENST00000409680.3_Missense_Mutation_p.G226C	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC									p.G276C(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TATAAGGAGCCCTGTTCATGA	0.378																																						uc002tzk.3																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|skin(2)	7						c.(826-828)GGC>TGC		activin A receptor, type IC isoform 1							83.0	84.0	83.0					2																	158401074		2203	4300	6503	SO:0001583	missense	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158401074C>A	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.826G>T	2.37:g.158401074C>A	ENSP00000243349:p.Gly276Cys					ACVR1C_uc002tzl.3_Missense_Mutation_p.G196C|ACVR1C_uc010fof.2_Missense_Mutation_p.G119C|ACVR1C_uc010foe.2_Missense_Mutation_p.G226C	p.G276C	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN			5	1069	-			276			Protein kinase.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000243349.8	37	c.826G>T	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665860	0.88251	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02	5.08	5.08	0.68730	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000037	D	0.99165	0.9711	H	0.99675	4.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98660	1.0683	10	0.87932	D	0	.	18.4231	0.90598	0.0:1.0:0.0:0.0	.	119;196;276	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	C	276;226;119;196	ENSP00000243349:G276C;ENSP00000387168:G226C;ENSP00000335139:G119C;ENSP00000335178:G196C	ENSP00000243349:G276C	G	-	1	0	ACVR1C	158109320	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.776000	0.85560	2.535000	0.85469	0.585000	0.79938	GGC		PASS	0.378	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		30	48	30	48	---	---	---	---
SCN3A	6328	broad.mit.edu	37	2	165970326	165970326	+	Splice_Site	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:165970326C>T	ENST00000360093.3	-	20	4160	c.3669G>A	c.(3667-3669)ttG>ttA	p.L1223L	SCN3A_ENST00000409101.3_Splice_Site_p.L1174L|SCN3A_ENST00000283254.7_Splice_Site_p.L1223L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1223					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L1223L(1)|p.L1174L(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTCACTTACCAATGCACCAC	0.378																																						uc002ucx.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(3667-3669)TTG>TTA		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						150.0	133.0	139.0					2																	165970326		2203	4300	6503	SO:0001630	splice_region_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165970326C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.3669+1G>A	2.37:g.165970326C>T						SCN3A_uc002ucy.2_Silent_p.L1174L|SCN3A_uc002ucz.2_Silent_p.L1174L|SCN3A_uc002uda.1_Silent_p.L1043L|SCN3A_uc002udb.1_Silent_p.L1043L	p.L1223L	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			20	4161	-			1223			Helical; Name=S1 of repeat III; (Potential).		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.3669G>A																																																																																					PASS	0.378	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	Silent	13	77	13	77	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166847771	166847771	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:166847771T>G	ENST00000303395.4	-	26	6013	c.6014A>C	c.(6013-6015)aAa>aCa	p.K2005T	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.K1994T|SCN1A_ENST00000423058.2_Missense_Mutation_p.K2005T|SCN1A_ENST00000409050.1_Missense_Mutation_p.K1977T			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	2005					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.K1994T(1)|p.K2005T(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCCTTTGGCTTTTTCATCTTT	0.383																																						uc010zcz.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(5980-5982)AAA>ACA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						76.0	71.0	73.0					2																	166847771		2201	4300	6501	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166847771T>G	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.6014A>C	2.37:g.166847771T>G	ENSP00000303540:p.Lys2005Thr						p.K1994T	NM_006920	NP_008851	P35498	SCN1A_HUMAN			26	5999	-			2005					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.5981A>C	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.375100	0.24857	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96168	-3.93;-3.93;-3.88;-3.86	5.67	5.67	0.87782	.	0.462954	0.22275	N	0.062216	D	0.89846	0.6833	N	0.08118	0	0.31817	N	0.626511	B	0.02656	0.0	B	0.06405	0.002	D	0.87890	0.2683	10	0.72032	D	0.01	.	15.9152	0.79508	0.0:0.0:0.0:1.0	.	1994	P35498-2	.	T	2005;2005;1994;1977	ENSP00000407030:K2005T;ENSP00000303540:K2005T;ENSP00000364554:K1994T;ENSP00000386312:K1977T	ENSP00000303540:K2005T	K	-	2	0	SCN1A	166556017	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.195000	0.51013	2.159000	0.67721	0.397000	0.26171	AAA		PASS	0.383	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		6	35	6	35	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166847856	166847856	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:166847856T>C	ENST00000303395.4	-	26	5928	c.5929A>G	c.(5929-5931)Atg>Gtg	p.M1977V	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.M1966V|SCN1A_ENST00000423058.2_Missense_Mutation_p.M1977V|SCN1A_ENST00000409050.1_Missense_Mutation_p.M1949V			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1977					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.M1966V(1)|p.M1977V(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCAGTGGACATGGTCAGATCA	0.368																																						uc010zcz.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(5896-5898)ATG>GTG		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						97.0	92.0	94.0					2																	166847856		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166847856T>C	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5929A>G	2.37:g.166847856T>C	ENSP00000303540:p.Met1977Val						p.M1966V	NM_006920	NP_008851	P35498	SCN1A_HUMAN			26	5914	-			1977					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.5896A>G	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	T	5.280	0.237041	0.10023	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.95690	-3.78;-3.78;-3.73;-3.71	5.67	5.67	0.87782	.	0.229883	0.39834	N	0.001251	D	0.89466	0.6723	L	0.34521	1.04	0.26406	N	0.976335	B	0.02656	0.0	B	0.04013	0.001	T	0.74780	-0.3549	10	0.09843	T	0.71	.	6.7327	0.23393	0.0:0.082:0.1547:0.7634	.	1966	P35498-2	.	V	1977;1977;1966;1949	ENSP00000407030:M1977V;ENSP00000303540:M1977V;ENSP00000364554:M1966V;ENSP00000386312:M1949V	ENSP00000303540:M1977V	M	-	1	0	SCN1A	166556102	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	1.526000	0.35964	2.159000	0.67721	0.397000	0.26171	ATG		PASS	0.368	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		15	67	15	67	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179393123	179393123	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:179393123C>T	ENST00000591111.1	-	311	102556	c.102332G>A	c.(102331-102333)cGc>cAc	p.R34111H	TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R33184H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R35752H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R26812H|TTN_ENST00000460472.2_Missense_Mutation_p.R26687H|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R26879H|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585625.1_RNA			Q8WZ42	TITIN_HUMAN	titin	34111	Ig-like 151.|Ser-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R33184H(1)|p.R26687H(1)|p.R26812H(1)|p.R26879H(1)|p.R33182H(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)			ATTTCTGGAGCGGCTTATGCT	0.378																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(99550-99552)CGC>CAC		titin isoform N2-A							97.0	87.0	90.0					2																	179393123		1849	4104	5953	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179393123C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.102332G>A	2.37:g.179393123C>T	ENSP00000465570:p.Arg34111His					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R26879H|TTN_uc010zfi.1_Missense_Mutation_p.R26812H|TTN_uc010zfj.1_Missense_Mutation_p.R26687H|TTN_uc002umq.2_Missense_Mutation_p.R201H	p.R33184H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		310	99775	-			34111					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.99551G>A		.	.	.	.	.	.	.	.	.	.	C	12.62	1.993925	0.35131	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.25	5.25	0.73442	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74298	0.3698	L	0.28400	0.85	0.35257	D	0.779215	D;D;D;D;D	0.89917	0.998;0.998;0.998;0.999;1.0	D;D;D;D;D	0.68765	0.928;0.928;0.928;0.96;0.925	T	0.81134	-0.1071	9	0.87932	D	0	.	19.2035	0.93720	0.0:1.0:0.0:0.0	.	26687;26812;26879;34111;33184	D3DPF9;E7EQE6;E7ET18;Q8WZ42;A6NKB1	.;.;.;TITIN_HUMAN;.	H	33184;26687;26879;26812;26684	ENSP00000343764:R33184H;ENSP00000434586:R26687H;ENSP00000340554:R26879H;ENSP00000352154:R26812H	ENSP00000340554:R26879H	R	-	2	0	TTN	179101369	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	3.861000	0.56002	2.603000	0.88011	0.555000	0.69702	CGC		PASS	0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		35	50	35	50	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179473493	179473493	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:179473493G>T	ENST00000591111.1	-	224	47546	c.47322C>A	c.(47320-47322)gaC>gaA	p.D15774E	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D14847E|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D17415E|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D8475E|TTN_ENST00000460472.2_Missense_Mutation_p.D8350E|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D8542E|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15774	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D14847E(2)|p.D8542E(1)|p.D8475E(1)|p.D8350E(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)			TCCATTCTGAGTCGGGTTTTG	0.393																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(44539-44541)GAC>GAA		titin isoform N2-A							114.0	107.0	109.0					2																	179473493		1880	4106	5986	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179473493G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.47322C>A	2.37:g.179473493G>T	ENSP00000465570:p.Asp15774Glu					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D8542E|TTN_uc010zfi.1_Missense_Mutation_p.D8475E|TTN_uc010zfj.1_Missense_Mutation_p.D8350E	p.D14847E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		223	44765	-			15774					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.44541C>A		.	.	.	.	.	.	.	.	.	.	G	8.651	0.898369	0.17686	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.72	2.53	0.30540	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.27134	0.0665	N	0.03238	-0.38	0.31623	N	0.650075	B;B;B;B	0.12630	0.006;0.006;0.006;0.006	B;B;B;B	0.12156	0.007;0.007;0.007;0.007	T	0.22521	-1.0214	9	0.87932	D	0	.	6.0679	0.19873	0.2326:0.0:0.555:0.2124	.	8350;8475;8542;15774	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	14847;8350;8542;8475;8350	ENSP00000343764:D14847E;ENSP00000434586:D8350E;ENSP00000340554:D8542E;ENSP00000352154:D8475E	ENSP00000340554:D8542E	D	-	3	2	TTN	179181738	0.999000	0.42202	1.000000	0.80357	0.916000	0.54674	0.578000	0.23773	0.780000	0.33566	0.563000	0.77884	GAC		PASS	0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	79	14	79	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179613239	179613239	+	Intron	SNP	G	G	T	rs139103966		TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:179613239G>T	ENST00000591111.1	-	45	10585				TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.L4630M|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGAACTCCAGAGCTGGATCT	0.373																																						uc002unb.2																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(13888-13890)CTG>ATG		titin isoform novex-3							96.0	105.0	102.0					2																	179613239		2203	4298	6501	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179613239G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4611C>A	2.37:g.179613239G>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.L4630M	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14112	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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.13888C>A		.	.	.	.	.	.	.	.	.	.	G	9.858	1.195515	0.22037	.	.	ENSG00000155657	ENST00000360870	T	0.57107	0.42	5.9	2.26	0.28386	.	.	.	.	.	T	0.27489	0.0675	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18053	-1.0349	9	0.26408	T	0.33	.	4.836	0.13466	0.0:0.3537:0.1624:0.484	.	4630	Q8WZ42-6	.	M	4630	ENSP00000354117:L4630M	ENSP00000354117:L4630M	L	-	1	2	TTN	179321484	0.000000	0.05858	0.006000	0.13384	0.164000	0.22412	0.556000	0.23438	0.157000	0.19338	-1.072000	0.02254	CTG		PASS	0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		61	110	61	110	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179637971	179637971	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:179637971G>T	ENST00000591111.1	-	33	7944	c.7720C>A	c.(7720-7722)Ccc>Acc	p.P2574T	TTN_ENST00000342992.6_Missense_Mutation_p.P2574T|TTN_ENST00000589042.1_Missense_Mutation_p.P2574T|TTN_ENST00000360870.5_Missense_Mutation_p.P2574T|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P2528T|TTN_ENST00000460472.2_Missense_Mutation_p.P2528T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P2528T			Q8WZ42	TITIN_HUMAN	titin	12897					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.P2574T(3)|p.P2528T(3)		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)			TTAGAACTGGGCTTGATTTCC	0.358																																						uc010zfg.1																			6	Substitution - Missense(6)		lung(6)	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.(7720-7722)CCC>ACC		titin isoform N2-A							42.0	44.0	43.0					2																	179637971		2203	4299	6502	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179637971G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7720C>A	2.37:g.179637971G>T	ENSP00000465570:p.Pro2574Thr					TTN_uc010zfh.1_Missense_Mutation_p.P2528T|TTN_uc010zfi.1_Missense_Mutation_p.P2528T|TTN_uc010zfj.1_Missense_Mutation_p.P2528T|TTN_uc002unb.2_Missense_Mutation_p.P2574T	p.P2574T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		33	7944	-			2574					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.7720C>A		.	.	.	.	.	.	.	.	.	.	G	3.799	-0.042105	0.07452	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.68	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64249	0.2581	L	0.59912	1.85	0.25355	N	0.988834	B;B;B;B;P	0.35575	0.193;0.193;0.193;0.193;0.51	B;B;B;B;B	0.37091	0.089;0.089;0.089;0.089;0.241	T	0.61093	-0.7132	9	0.87932	D	0	.	10.6334	0.45549	0.0755:0.1692:0.7553:0.0	.	2528;2528;2528;2574;2574	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	2574;2528;2528;2528;2528;2574	ENSP00000343764:P2574T;ENSP00000434586:P2528T;ENSP00000340554:P2528T;ENSP00000352154:P2528T;ENSP00000354117:P2574T	ENSP00000340554:P2528T	P	-	1	0	TTN	179346216	0.998000	0.40836	0.949000	0.38748	0.290000	0.27261	1.228000	0.32588	1.417000	0.47077	-0.142000	0.14014	CCC		PASS	0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	34	7	34	---	---	---	---
NEUROD1	4760	broad.mit.edu	37	2	182543312	182543312	+	Silent	SNP	A	A	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:182543312A>T	ENST00000295108.3	-	2	733	c.276T>A	c.(274-276)acT>acA	p.T92T	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	92					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|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 regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.T92T(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GGCGAGCCTTAGTCATCTTCT	0.557																																						uc002uof.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(274-276)ACT>ACA		neurogenic differentiation 1							136.0	116.0	123.0					2																	182543312		2203	4300	6503	SO:0001819	synonymous_variant	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182543312A>T	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.276T>A	2.37:g.182543312A>T						CERKL_uc002uod.1_Intron	p.T92T	NM_002500	NP_002491	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	512	-			92			Nuclear localization signal (Potential).		B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Silent	SNP	ENST00000295108.3	37	c.276T>A	CCDS2283.1																																																																																				PASS	0.557	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		13	63	13	63	---	---	---	---
CCDC150	284992	broad.mit.edu	37	2	197577399	197577399	+	Splice_Site	SNP	A	A	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:197577399A>T	ENST00000389175.4	+	17	1938		c.e17-1		CCDC150_ENST00000409270.1_5'Flank|CCDC150_ENST00000272831.7_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150									p.?(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TTTGAATTAAAGGCAAACTCA	0.388																																						uc002utp.1																			1	Unknown(1)		lung(1)		0						c.e17-2		coiled-coil domain containing 150							81.0	79.0	80.0					2																	197577399		1899	4120	6019	SO:0001630	splice_region_variant	284992							g.chr2:197577399A>T		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1804-1A>T	2.37:g.197577399A>T						CCDC150_uc010zgs.1_Intron|CCDC150_uc010zgt.1_Intron	p.A602_splice	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN			17	1939	+								Q6P5U6|Q6P663|Q8N8V5	Splice_Site	SNP	ENST00000389175.4	37	c.1804_splice	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	.	12.42	1.933206	0.34096	.	.	ENSG00000144395	ENST00000389175	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2023	0.43092	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC150	197285644	0.706000	0.27856	0.790000	0.31976	0.167000	0.22549	1.738000	0.38207	1.986000	0.57962	0.459000	0.35465	.		PASS	0.388	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539	Intron	8	13	8	13	---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207171597	207171597	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:207171597G>T	ENST00000374423.3	+	5	2731	c.2345G>T	c.(2344-2346)aGc>aTc	p.S782I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	782							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S782I(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GAAGATGAGAGCTGTGAGTCA	0.408																																						uc002vbp.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2344-2346)AGC>ATC		zinc finger, DBF-type containing 2							156.0	157.0	156.0					2																	207171597		1918	4122	6040	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207171597G>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.2345G>T	2.37:g.207171597G>T	ENSP00000363545:p.Ser782Ile						p.S782I	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	2595	+			782					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.2345G>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127566	0.37533	.	.	ENSG00000204186	ENST00000374423	T	0.56611	0.45	4.4	-0.506	0.11989	.	0.517494	0.16421	N	0.215171	T	0.55289	0.1911	L	0.57536	1.79	0.09310	N	1	D	0.56968	0.978	P	0.54664	0.758	T	0.49273	-0.8957	10	0.59425	D	0.04	.	7.4444	0.27203	0.4997:0.0:0.5003:0.0	.	782	Q9HCK1	ZDBF2_HUMAN	I	782	ENSP00000363545:S782I	ENSP00000363545:S782I	S	+	2	0	ZDBF2	206879842	0.456000	0.25744	0.000000	0.03702	0.629000	0.37895	-0.118000	0.10692	-0.087000	0.12528	0.563000	0.77884	AGC		PASS	0.408	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		55	106	55	106	---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220332025	220332025	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:220332025G>T	ENST00000312358.7	+	10	3143	c.3011G>T	c.(3010-3012)cGt>cTt	p.R1004L	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1004	Ig-like 4.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R1004L(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGGCTGTGCCGTGGCCGCCTG	0.627																																						uc010fwg.2																			1	Substitution - Missense(1)		lung(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(3010-3012)CGT>CTT		SPEG complex locus							48.0	59.0	55.0					2																	220332025		2142	4246	6388	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220332025G>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3011G>T	2.37:g.220332025G>T	ENSP00000311684:p.Arg1004Leu						p.R1004L	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	10	3011	+		Renal(207;0.0183)	1004			Ig-like 4.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.3011G>T	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262528	0.23051	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.70045	-0.45	4.75	2.97	0.34412	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36066	N	0.002812	T	0.61800	0.2376	L	0.28400	0.85	0.35910	D	0.831018	P	0.48503	0.911	P	0.50590	0.645	T	0.69331	-0.5173	10	0.62326	D	0.03	.	10.6577	0.45684	0.1562:0.0:0.8438:0.0	.	1004	Q15772	SPEG_HUMAN	L	1004	ENSP00000311684:R1004L	ENSP00000265327:R1004L	R	+	2	0	SPEG	220040269	0.828000	0.29307	0.617000	0.29091	0.396000	0.30629	4.069000	0.57541	0.620000	0.30215	-0.137000	0.14449	CGT		PASS	0.627	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		18	90	18	90	---	---	---	---
SH3BP4	23677	broad.mit.edu	37	2	235950095	235950095	+	Missense_Mutation	SNP	G	G	T	rs138703238		TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:235950095G>T	ENST00000409212.1	+	4	1189	c.682G>T	c.(682-684)Gca>Tca	p.A228S	SH3BP4_ENST00000344528.4_Missense_Mutation_p.A228S|SH3BP4_ENST00000392011.2_Missense_Mutation_p.A228S			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	228					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)	p.A228S(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CGGACTCCACGCAGAGCCGCC	0.572																																						uc002vvp.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(682-684)GCA>TCA		SH3-domain binding protein 4							87.0	101.0	96.0					2																	235950095		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235950095G>T	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.682G>T	2.37:g.235950095G>T	ENSP00000386862:p.Ala228Ser					SH3BP4_uc010fym.2_Missense_Mutation_p.A228S|SH3BP4_uc002vvq.2_Missense_Mutation_p.A228S	p.A228S	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	1075	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	228					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.682G>T	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.754512	0.00663	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528	T;T;T	0.09350	2.99;2.99;2.99	5.34	-1.31	0.09230	.	0.768277	0.12544	N	0.459604	T	0.04952	0.0133	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.41124	-0.9526	10	0.22706	T	0.39	-14.7492	2.0843	0.03642	0.303:0.1744:0.4133:0.1092	.	228;228	A8K594;Q9P0V3	.;SH3B4_HUMAN	S	228	ENSP00000375867:A228S;ENSP00000386862:A228S;ENSP00000340237:A228S	ENSP00000340237:A228S	A	+	1	0	SH3BP4	235614834	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-1.087000	0.03383	-0.253000	0.09514	-0.808000	0.03180	GCA		PASS	0.572	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			31	131	31	131	---	---	---	---
ESPNL	339768	broad.mit.edu	37	2	239013419	239013419	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr2:239013419T>C	ENST00000343063.3	+	3	871	c.608T>C	c.(607-609)cTc>cCc	p.L203P	ESPNL_ENST00000409169.1_Missense_Mutation_p.L203P	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	203								p.L203P(1)		endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CTTCGTGCTCTCGATGGCATG	0.672																																						uc002vxq.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(607-609)CTC>CCC		espin-like							37.0	28.0	31.0					2																	239013419		2200	4297	6497	SO:0001583	missense	339768							g.chr2:239013419T>C	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.608T>C	2.37:g.239013419T>C	ENSP00000339115:p.Leu203Pro						p.L203P	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	3	718	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	203					Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	c.608T>C	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	T	9.025	0.985819	0.18889	.	.	ENSG00000144488	ENST00000343063;ENST00000409169	T;T	0.53640	0.61;0.61	4.8	3.58	0.41010	Ankyrin repeat-containing domain (3);	0.706935	0.11298	N	0.578553	T	0.37625	0.1010	N	0.17872	0.535	0.80722	D	1	P	0.49696	0.927	P	0.48952	0.596	T	0.05178	-1.0901	10	0.27785	T	0.31	-11.469	7.1348	0.25523	0.4224:0.0:0.0:0.5776	.	203	Q6ZVH7	ESPNL_HUMAN	P	203	ENSP00000339115:L203P;ENSP00000386577:L203P	ENSP00000339115:L203P	L	+	2	0	ESPNL	238678158	0.199000	0.23386	0.998000	0.56505	0.024000	0.10985	2.665000	0.46791	1.804000	0.52760	0.379000	0.24179	CTC		PASS	0.672	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		7	7	7	7	---	---	---	---
COLQ	8292	broad.mit.edu	37	3	15499735	15499735	+	Silent	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr3:15499735G>A	ENST00000383788.5	-	13	1037	c.912C>T	c.(910-912)taC>taT	p.Y304Y	COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000435459.2_Silent_p.Y294Y|COLQ_ENST00000383781.4_Silent_p.Y294Y|COLQ_ENST00000383787.2_Silent_p.Y295Y|COLQ_ENST00000383786.5_Silent_p.Y270Y|COLQ_ENST00000603808.1_Silent_p.Y304Y	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	304					acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.Y294Y(1)|p.Y304Y(1)		endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CAGATTCCCCGTAGGAAGGGT	0.527																																						uc003bzx.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(910-912)TAC>TAT		acetylcholinesterase collagen-like tail subunit							114.0	115.0	115.0					3																	15499735		2203	4300	6503	SO:0001819	synonymous_variant	8292				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft		g.chr3:15499735G>A	AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"""single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase"", ""collagenic tail of endplate acetylcholinesterase"", ""AChE Q subunit"", ""acetylcholinesterase-associated collagen"""	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.912C>T	3.37:g.15499735G>A						COLQ_uc003bzv.2_Silent_p.Y294Y|COLQ_uc003bzz.2_Silent_p.Y295Y|COLQ_uc010heo.2_Silent_p.Y270Y|COLQ_uc003cac.1_RNA|COLQ_uc003cae.1_Silent_p.Y163Y|COLQ_uc003cad.1_RNA	p.Y304Y	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN			13	1038	-			304					B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Silent	SNP	ENST00000383788.5	37	c.912C>T	CCDS33709.1																																																																																				PASS	0.527	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343575.1	NM_005677		38	85	38	85	---	---	---	---
KLHL40	131377	broad.mit.edu	37	3	42728190	42728190	+	Silent	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr3:42728190G>A	ENST00000287777.4	+	1	1180	c.1080G>A	c.(1078-1080)caG>caA	p.Q360Q		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	360					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)		p.Q360Q(1)									AGGAGAACCAGGTCTTCGTGG	0.592																																						uc003clv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1078-1080)CAG>CAA		kelch repeat and BTB (POZ) domain containing 5							60.0	52.0	55.0					3																	42728190		2203	4300	6503	SO:0001819	synonymous_variant	131377							g.chr3:42728190G>A	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.1080G>A	3.37:g.42728190G>A							p.Q360Q	NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	1	1180	+			360			Kelch 1.		Q86SI1|Q96MR2	Silent	SNP	ENST00000287777.4	37	c.1080G>A	CCDS2703.1																																																																																				PASS	0.592	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		19	27	19	27	---	---	---	---
VPRBP	9730	broad.mit.edu	37	3	51475085	51475085	+	Intron	SNP	T	T	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr3:51475085T>C	ENST00000335891.5	-	6	682							Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein						B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)	p.L343L(1)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		ATATGGGAAGTAGCTGAAATG	0.378																																						uc003dbe.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1027-1029)CTA>CTG		HIV-1 Vpr binding protein							55.0	52.0	53.0					3																	51475085		1901	4111	6012	SO:0001627	intron_variant	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51475085T>C	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.672+669A>G	3.37:g.51475085T>C							p.L343L	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	9	1197	-			343					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Silent	SNP	ENST00000335891.5	37	c.1029A>G																																																																																					PASS	0.378	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		9	6	9	6	---	---	---	---
CADPS	8618	broad.mit.edu	37	3	62636531	62636531	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr3:62636531G>T	ENST00000383710.4	-	5	1543	c.1194C>A	c.(1192-1194)ttC>ttA	p.F398L	CADPS_ENST00000490353.2_Missense_Mutation_p.F398L|CADPS_ENST00000283269.9_Missense_Mutation_p.F398L|CADPS_ENST00000357948.3_Missense_Mutation_p.F398L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	398					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.F398L(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CCTCCAATGAGAAAGACAGCA	0.483																																						uc003dll.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(1192-1194)TTC>TTA		Ca2+-dependent secretion activator isoform 1							87.0	78.0	81.0					3																	62636531		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62636531G>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1194C>A	3.37:g.62636531G>T	ENSP00000373215:p.Phe398Leu					CADPS_uc003dlm.2_Missense_Mutation_p.F398L|CADPS_uc003dln.2_Missense_Mutation_p.F398L	p.F398L	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	5	1554	-		Lung SC(41;0.0452)	398					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.1194C>A	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340537	0.81911	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	T;T;T;T	0.56444	0.51;0.5;0.5;0.46	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.69205	0.3085	M	0.72479	2.2	0.53005	D	0.999962	D;D;D	0.76494	0.999;0.982;0.982	D;D;D	0.87578	0.998;0.961;0.952	T	0.69510	-0.5126	10	0.51188	T	0.08	.	10.8157	0.46573	0.1393:0.0:0.8607:0.0	.	398;398;398	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	L	398	ENSP00000373215:F398L;ENSP00000350632:F398L;ENSP00000283269:F398L;ENSP00000418736:F398L	ENSP00000283269:F398L	F	-	3	2	CADPS	62611571	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.976000	0.63785	2.861000	0.98227	0.655000	0.94253	TTC		PASS	0.483	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		15	52	15	52	---	---	---	---
RYBP	23429	broad.mit.edu	37	3	72427648	72427648	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr3:72427648C>A	ENST00000477973.2	-	4	839	c.840G>T	c.(838-840)agG>agT	p.R280S		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		CTGTTCTGACCCTGCACTGGA	0.542																																						uc003dpe.2																			0					0						c.(544-546)GGG>GTG		RING1 and YY1 binding protein							102.0	104.0	103.0					3																	72427648		2160	4255	6415	SO:0001583	missense	23429				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr3:72427648C>A	AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"""YY1 and E4TF1 associated factor 1"", ""ring1 interactor RYBP"", ""apoptin-associating protein 1"", ""death effector domain-associated factor"""	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.840G>T	3.37:g.72427648C>A	ENSP00000419494:p.Arg280Ser						p.G182V	NM_012234	NP_036366	Q8N488	RYBP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)	4	662	-		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)	192			Interaction with E4TF1B.|Ser-rich.		Q9P2W5|Q9UMW4	Missense_Mutation	SNP	ENST00000477973.2	37	c.545G>T		.	.	.	.	.	.	.	.	.	.	C	17.79	3.475028	0.63737	.	.	ENSG00000163602	ENST00000477973	.	.	.	5.86	4.99	0.66335	.	.	.	.	.	T	0.60637	0.2284	L	0.44542	1.39	.	.	.	.	.	.	.	.	.	T	0.65467	-0.6161	4	.	.	.	-14.0658	15.3902	0.74739	0.0:0.9333:0.0:0.0667	.	.	.	.	S	280	.	.	R	-	3	2	RYBP	72510338	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.843000	0.69424	1.632000	0.50472	0.650000	0.86243	AGG		PASS	0.542	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	NM_012234		19	9	19	9	---	---	---	---
ROBO1	6091	broad.mit.edu	37	3	78987941	78987941	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr3:78987941T>G	ENST00000464233.1	-	4	422	c.309A>C	c.(307-309)aaA>aaC	p.K103N	RN7SL751P_ENST00000473281.2_RNA|ROBO1_ENST00000467549.1_Missense_Mutation_p.K64N|ROBO1_ENST00000495273.1_Missense_Mutation_p.K64N|ROBO1_ENST00000436010.2_Missense_Mutation_p.K64N	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	103	Ig-like C2-type 1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.K103N(2)|p.K64N(1)|p.K80N(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCTCTCCCCCTTTGTACCATT	0.478																																						uc003dqe.2																			4	Substitution - Missense(4)		lung(4)	large_intestine(2)	2						c.(307-309)AAA>AAC		roundabout 1 isoform a							137.0	127.0	130.0					3																	78987941		1915	4128	6043	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78987941T>G	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.309A>C	3.37:g.78987941T>G	ENSP00000420321:p.Lys103Asn					ROBO1_uc003dqb.2_Missense_Mutation_p.K64N|ROBO1_uc003dqc.2_Missense_Mutation_p.K64N|ROBO1_uc003dqd.2_Missense_Mutation_p.K64N	p.K103N	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	4	517	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	103			Extracellular (Potential).|Ig-like C2-type 1.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.309A>C	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.713845	0.68730	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.53	3.09	0.35607	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68155	0.2970	M	0.85299	2.745	0.45979	D	0.998793	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.997;0.996	T	0.67929	-0.5543	9	.	.	.	.	9.698	0.40169	0.0:0.204:0.0:0.796	.	103;64;64;64	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	N	64;64;103;64;64;103	ENSP00000406043:K64N;ENSP00000420321:K103N;ENSP00000420637:K64N;ENSP00000417992:K64N	.	K	-	3	2	ROBO1	79070631	1.000000	0.71417	0.998000	0.56505	0.911000	0.54048	1.210000	0.32370	0.373000	0.24621	0.379000	0.24179	AAA		PASS	0.478	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		12	55	12	55	---	---	---	---
CASR	846	broad.mit.edu	37	3	122002609	122002609	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr3:122002609T>C	ENST00000490131.1	+	7	2180	c.1808T>C	c.(1807-1809)aTc>aCc	p.I603T	CASR_ENST00000296154.5_Missense_Mutation_p.I603T|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Missense_Mutation_p.I613T	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	603					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.I603T(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCCAAGGAGATCGAGTTTCTG	0.522																																						uc003eev.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(1807-1809)ATC>ACC		calcium-sensing receptor precursor	Cinacalcet(DB01012)						148.0	122.0	130.0					3																	122002609		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122002609T>C	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1808T>C	3.37:g.122002609T>C	ENSP00000418685:p.Ile603Thr					CASR_uc003eew.3_Missense_Mutation_p.I613T	p.I603T	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2180	+			603			Extracellular (Potential).		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.1808T>C	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	T	15.34	2.805661	0.50315	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.90069	-2.6;-2.61;-2.6	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.89294	0.6674	L	0.60067	1.865	0.58432	D	0.999996	P;P	0.50443	0.935;0.842	P;B	0.46940	0.532;0.321	D	0.89732	0.3927	10	0.52906	T	0.07	.	15.5237	0.75885	0.0:0.0:0.0:1.0	.	613;603	E7ENE0;P41180	.;CASR_HUMAN	T	603;613;603	ENSP00000418685:I603T;ENSP00000420194:I613T;ENSP00000296154:I603T	ENSP00000296154:I603T	I	+	2	0	CASR	123485299	1.000000	0.71417	0.965000	0.40720	0.980000	0.70556	6.139000	0.71728	2.263000	0.75096	0.379000	0.24179	ATC		PASS	0.522	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		25	53	25	53	---	---	---	---
RUVBL1	8607	broad.mit.edu	37	3	127842517	127842517	+	Silent	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr3:127842517G>A	ENST00000322623.5	-	1	150	c.51C>T	c.(49-51)tcC>tcT	p.S17S	RUVBL1_ENST00000464873.1_Intron|RUVBL1_ENST00000417360.1_Silent_p.S17S	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	17					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)	p.S17S(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CGTGGCTGTGGGAGGCGATGC	0.622																																						uc003ekh.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(49-51)TCC>TCT		RuvB-like 1							52.0	51.0	51.0					3																	127842517		2203	4300	6503	SO:0001819	synonymous_variant	8607				cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	g.chr3:127842517G>A	AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"""INO80 complex subunits"", ""ATPases / AAA-type"""	10474	protein-coding gene	gene with protein product	"""pontin"", ""INO80 complex subunit H"""	603449	"""RuvB (E coli homolog)-like 1"", ""RuvB-like 1 (E. coli)"", ""RuvB-like AAA ATPase"""			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.51C>T	3.37:g.127842517G>A						RUVBL1_uc003ekf.2_Intron|RUVBL1_uc010hss.2_Silent_p.S17S	p.S17S	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN		GBM - Glioblastoma multiforme(114;0.181)	1	155	-			17					B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Silent	SNP	ENST00000322623.5	37	c.51C>T	CCDS3047.1																																																																																				PASS	0.622	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356728.2			4	85	4	85	---	---	---	---
CPNE4	131034	broad.mit.edu	37	3	131283166	131283166	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr3:131283166C>A	ENST00000512055.1	-	15	3081	c.955G>T	c.(955-957)Ggg>Tgg	p.G319W	CPNE4_ENST00000502818.1_Missense_Mutation_p.G337W|CPNE4_ENST00000512332.1_Missense_Mutation_p.G337W|CPNE4_ENST00000511604.1_Missense_Mutation_p.G319W|CPNE4_ENST00000429747.1_Missense_Mutation_p.G319W			Q96A23	CPNE4_HUMAN	copine IV	319	VWFA.					extracellular vesicular exosome (GO:0070062)		p.G319W(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CTGGGGTCCCCGTTTGAGGCA	0.428																																						uc003eok.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(955-957)GGG>TGG		copine IV							94.0	92.0	92.0					3																	131283166		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131283166C>A	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.955G>T	3.37:g.131283166C>A	ENSP00000421705:p.Gly319Trp					CPNE4_uc011blq.1_Missense_Mutation_p.G337W|CPNE4_uc003eol.2_Missense_Mutation_p.G337W|CPNE4_uc003eom.2_Missense_Mutation_p.G319W	p.G319W	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN			11	1390	-			319			VWFA.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.955G>T	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562980	0.86335	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.60797	0.17;0.17;0.16;0.17;0.16	5.67	5.67	0.87782	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.86944	0.6055	H	0.98721	4.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91916	0.5543	10	0.87932	D	0	-18.0651	19.7704	0.96361	0.0:1.0:0.0:0.0	.	337;319	Q96A23-2;Q96A23	.;CPNE4_HUMAN	W	319;319;337;319;337	ENSP00000421705:G319W;ENSP00000411904:G319W;ENSP00000424853:G337W;ENSP00000423811:G319W;ENSP00000421646:G337W	ENSP00000411904:G319W	G	-	1	0	CPNE4	132765856	1.000000	0.71417	0.954000	0.39281	0.981000	0.71138	7.487000	0.81328	2.676000	0.91093	0.561000	0.74099	GGG		PASS	0.428	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		27	62	27	62	---	---	---	---
LRRIQ4	344657	broad.mit.edu	37	3	169539929	169539929	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr3:169539929A>G	ENST00000340806.6	+	1	220	c.220A>G	c.(220-222)Agg>Ggg	p.R74G		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	74								p.R74G(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AAAGAACATCAGGGTCCTCTA	0.498																																						uc003fgb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(220-222)AGG>GGG		leucine-rich repeats and IQ motif containing 4							86.0	89.0	88.0					3																	169539929		1900	4122	6022	SO:0001583	missense	344657							g.chr3:169539929A>G		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.220A>G	3.37:g.169539929A>G	ENSP00000342188:p.Arg74Gly						p.R74G	NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN			1	220	+			74			LRR 3.			Missense_Mutation	SNP	ENST00000340806.6	37	c.220A>G	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.687015	0.48097	.	.	ENSG00000188306	ENST00000340806	T	0.58652	0.32	5.69	0.332	0.15938	.	0.454838	0.21042	N	0.081157	T	0.57651	0.2068	M	0.65498	2.005	0.09310	N	1	P	0.44521	0.837	P	0.49192	0.602	T	0.51044	-0.8755	10	0.25106	T	0.35	.	8.7922	0.34857	0.547:0.3871:0.0659:0.0	.	74	A6NIV6	LRIQ4_HUMAN	G	74	ENSP00000342188:R74G	ENSP00000342188:R74G	R	+	1	2	LRRIQ4	171022623	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.271000	0.33098	-0.160000	0.11002	-0.379000	0.06801	AGG		PASS	0.498	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		54	103	54	103	---	---	---	---
SPATA16	83893	broad.mit.edu	37	3	172674469	172674469	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr3:172674469G>A	ENST00000351008.3	-	6	1262	c.1079C>T	c.(1078-1080)aCa>aTa	p.T360I		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	360					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)		p.T360I(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AATCTTACCTGTGTACATATA	0.294																																						uc003fin.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1078-1080)ACA>ATA		spermatogenesis associated 16							120.0	108.0	112.0					3																	172674469		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172674469G>A	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1079C>T	3.37:g.172674469G>A	ENSP00000341765:p.Thr360Ile						p.T360I	NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		6	1237	-	Ovarian(172;0.00319)|Breast(254;0.197)		360					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.1079C>T	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.543922	0.45280	.	.	ENSG00000144962	ENST00000351008	T	0.22134	1.97	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000001	T	0.30665	0.0772	L	0.32530	0.975	0.42896	D	0.99421	D	0.63046	0.992	P	0.54270	0.747	T	0.01819	-1.1267	10	0.72032	D	0.01	-12.9047	17.8531	0.88754	0.0:0.0:1.0:0.0	.	360	Q9BXB7	SPT16_HUMAN	I	360	ENSP00000341765:T360I	ENSP00000341765:T360I	T	-	2	0	SPATA16	174157163	1.000000	0.71417	1.000000	0.80357	0.074000	0.17049	6.285000	0.72658	2.653000	0.90120	0.563000	0.77884	ACA		PASS	0.294	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		13	48	13	48	---	---	---	---
ATP11B	23200	broad.mit.edu	37	3	182615170	182615170	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr3:182615170C>T	ENST00000323116.5	+	27	3388	c.3128C>T	c.(3127-3129)tCc>tTc	p.S1043F		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1043					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S1043F(2)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TTTGTATTTTCCTTGTTTTAT	0.294																																						uc003flb.2																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(2)|pancreas(1)	3						c.(3127-3129)TCC>TTC		ATPase, class VI, type 11B							91.0	103.0	99.0					3																	182615170		2199	4292	6491	SO:0001583	missense	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182615170C>T	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.3128C>T	3.37:g.182615170C>T	ENSP00000321195:p.Ser1043Phe					ATP11B_uc003flc.2_Missense_Mutation_p.S627F|ATP11B_uc010hxf.1_Missense_Mutation_p.S205F|ATP11B_uc010hxg.2_RNA|ATP11B_uc010hxh.1_5'Flank	p.S1043F	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		27	3385	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		1043			Helical; (Potential).		Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.3128C>T	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.385145|4.385145	0.82792|0.82792	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000498086|ENST00000323116	.|T	.|0.40756	.|1.02	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62600|0.62600	0.2441|0.2441	L|L	0.58669|0.58669	1.825|1.825	0.80722|0.80722	D|D	1|1	.|D;B	.|0.76494	.|0.999;0.37	.|D;B	.|0.85130	.|0.997;0.334	T|T	0.59327|0.59327	-0.7475|-0.7475	5|10	.|0.39692	.|T	.|0.17	.|.	19.1375|19.1375	0.93433|0.93433	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|617;1043	.|B3KSJ2;Q9Y2G3	.|.;AT11B_HUMAN	S|F	844|1043	.|ENSP00000321195:S1043F	.|ENSP00000321195:S1043F	P|S	+|+	1|2	0|0	ATP11B|ATP11B	184097864|184097864	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.783000|0.783000	0.44284|0.44284	7.390000|7.390000	0.79816|0.79816	2.532000|2.532000	0.85374|0.85374	0.655000|0.655000	0.94253|0.94253	CCT|TCC		PASS	0.294	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		31	167	31	167	---	---	---	---
CLCN2	1181	broad.mit.edu	37	3	184074816	184074816	+	Silent	SNP	C	C	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr3:184074816C>G	ENST00000265593.4	-	10	1221	c.1050G>C	c.(1048-1050)cgG>cgC	p.R350R	CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000434054.2_Silent_p.R306R|CLCN2_ENST00000475279.1_5'UTR|CLCN2_ENST00000344937.7_Silent_p.R350R|CLCN2_ENST00000457512.1_Silent_p.R350R|EIF2B5_ENST00000444495.1_Intron	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	350					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)	p.R350R(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TTTTCTGCTTCCGCATCACCT	0.532																																						uc003foi.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1048-1050)CGG>CGC		chloride channel 2	Lubiprostone(DB01046)						52.0	56.0	55.0					3																	184074816		2203	4300	6503	SO:0001819	synonymous_variant	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184074816C>G	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1050G>C	3.37:g.184074816C>G						CLCN2_uc003foh.2_5'UTR|CLCN2_uc010hya.1_Silent_p.R350R|CLCN2_uc011brl.1_Silent_p.R350R|CLCN2_uc011brm.1_Silent_p.R306R|CLCN2_uc011brn.1_Silent_p.R350R	p.R350R	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		10	1174	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		350					B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Silent	SNP	ENST00000265593.4	37	c.1050G>C	CCDS3263.1																																																																																				PASS	0.532	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			6	29	6	29	---	---	---	---
PROM1	8842	broad.mit.edu	37	4	16035000	16035000	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr4:16035000G>A	ENST00000510224.1	-	5	684	c.436C>T	c.(436-438)Cga>Tga	p.R146*	PROM1_ENST00000505450.1_Nonsense_Mutation_p.R137*|PROM1_ENST00000539194.1_Nonsense_Mutation_p.R146*|PROM1_ENST00000540805.1_Nonsense_Mutation_p.R146*|PROM1_ENST00000543373.1_Nonsense_Mutation_p.R137*|PROM1_ENST00000447510.2_Nonsense_Mutation_p.R146*|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000508167.1_Nonsense_Mutation_p.R137*			O43490	PROM1_HUMAN	prominin 1	146					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)	p.R146*(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TCCTTCTGTCGCTGGTGCATT	0.433																																						uc003goo.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	7						c.(436-438)CGA>TGA		prominin 1 isoform 1							94.0	86.0	88.0					4																	16035000		1891	4126	6017	SO:0001587	stop_gained	8842				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	g.chr4:16035000G>A	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.436C>T	4.37:g.16035000G>A	ENSP00000426809:p.Arg146*					PROM1_uc003gor.2_Nonsense_Mutation_p.R146*|PROM1_uc003gos.2_Nonsense_Mutation_p.R137*|PROM1_uc003got.2_Nonsense_Mutation_p.R146*|PROM1_uc003gou.2_Nonsense_Mutation_p.R137*|PROM1_uc003gop.2_Nonsense_Mutation_p.R137*|PROM1_uc003goq.3_Nonsense_Mutation_p.R137*|PROM1_uc010iec.1_Nonsense_Mutation_p.R24*	p.R146*	NM_006017	NP_006008	O43490	PROM1_HUMAN			4	648	-			146			Cytoplasmic (Potential).		Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Nonsense_Mutation	SNP	ENST00000510224.1	37	c.436C>T	CCDS47029.1	.	.	.	.	.	.	.	.	.	.	G	43	10.436649	0.99405	.	.	ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373	.	.	.	5.38	3.36	0.38483	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.3841	12.6773	0.56901	0.0:0.0:0.4195:0.5805	.	.	.	.	X	146;146;146;137;137;146;137	.	ENSP00000415481:R146X	R	-	1	2	PROM1	15644098	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.284000	0.43478	0.629000	0.30376	0.563000	0.77884	CGA		PASS	0.433	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		9	56	9	56	---	---	---	---
YIPF7	285525	broad.mit.edu	37	4	44638039	44638039	+	Silent	SNP	C	C	A	rs375403982		TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr4:44638039C>A	ENST00000332990.5	-	3	268	c.252G>T	c.(250-252)tcG>tcT	p.S84S	YIPF7_ENST00000415895.4_Silent_p.S60S	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	84						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.S84S(2)		breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						CTGCGTAACCCGATGACATGA	0.413																																						uc010ifx.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(250-252)TCG>TCT		Yip1 domain family, member 7							90.0	89.0	89.0					4																	44638039		1916	4144	6060	SO:0001819	synonymous_variant	285525					endoplasmic reticulum membrane|integral to membrane		g.chr4:44638039C>A	AK096895	CCDS54766.1	4p13	2008-08-07			ENSG00000177752	ENSG00000177752		"""Yip1 domain family"""	26825	protein-coding gene	gene with protein product							Standard	NM_182592		Approved	FLJ39576, FinGER9	uc021xnx.1	Q8N8F6	OTTHUMG00000160467	ENST00000332990.5:c.252G>T	4.37:g.44638039C>A						YIPF7_uc010ify.1_Silent_p.S84S	p.S84S	NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN			3	269	-			84					Q3SY21|Q3SY22	Silent	SNP	ENST00000332990.5	37	c.252G>T	CCDS54766.1	.	.	.	.	.	.	.	.	.	.	T	4.695	0.129224	0.08981	.	.	ENSG00000177752	ENST00000415895	.	.	.	5.02	-3.84	0.04256	.	.	.	.	.	T	0.28599	0.0708	.	.	.	0.18873	N	0.999981	.	.	.	.	.	.	T	0.33624	-0.9861	4	.	.	.	-9.5458	7.8378	0.29380	0.0:0.4105:0.3563:0.2333	.	.	.	.	W	61	.	.	G	-	1	0	YIPF7	44332796	0.000000	0.05858	0.001000	0.08648	0.045000	0.14185	-0.573000	0.05874	-0.843000	0.04189	-0.260000	0.10688	GGG		PASS	0.413	YIPF7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_182592		24	25	24	25	---	---	---	---
ATP10D	57205	broad.mit.edu	37	4	47514670	47514670	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr4:47514670G>A	ENST00000273859.3	+	2	382	c.113G>A	c.(112-114)cGc>cAc	p.R38H	ATP10D_ENST00000504445.1_Missense_Mutation_p.R38H	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	38					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|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.R38H(2)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GCCTGTGGGCGCAAGTCCTCT	0.542																																						uc003gxk.1																			2	Substitution - Missense(2)		lung(1)|prostate(1)	ovary(2)|pancreas(1)	3						c.(112-114)CGC>CAC		ATPase, class V, type 10D							94.0	90.0	91.0					4																	47514670		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47514670G>A	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.113G>A	4.37:g.47514670G>A	ENSP00000273859:p.Arg38His					ATP10D_uc003gxj.3_Missense_Mutation_p.R38H	p.R38H	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			2	277	+			38			Cytoplasmic (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.113G>A	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	5.803	0.332524	0.10956	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.39406	1.08;3.98	5.1	3.31	0.37934	.	0.722046	0.13509	N	0.382644	T	0.32971	0.0847	L	0.43923	1.385	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.06405	0.002;0.002	T	0.22521	-1.0214	10	0.52906	T	0.07	-2.6277	6.7444	0.23453	0.1984:0.1511:0.6505:0.0	.	38;38	Q9P241;Q6PEW3	AT10D_HUMAN;.	H	38	ENSP00000273859:R38H;ENSP00000420909:R38H	ENSP00000273859:R38H	R	+	2	0	ATP10D	47209427	0.345000	0.24835	0.145000	0.22337	0.020000	0.10135	0.530000	0.23036	1.244000	0.43870	0.557000	0.71058	CGC		PASS	0.542	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		4	71	4	71	---	---	---	---
CWH43	80157	broad.mit.edu	37	4	49005812	49005812	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr4:49005812G>A	ENST00000226432.4	+	7	1046	c.863G>A	c.(862-864)tGt>tAt	p.C288Y	CWH43_ENST00000513409.1_Missense_Mutation_p.C261Y	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	288					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.C288Y(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GTGTCTGGCTGTGTCTTCGCC	0.502																																						uc003gyv.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(862-864)TGT>TAT		cell wall biogenesis 43 C-terminal homolog							100.0	87.0	91.0					4																	49005812		2203	4300	6503	SO:0001583	missense	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49005812G>A		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.863G>A	4.37:g.49005812G>A	ENSP00000226432:p.Cys288Tyr					CWH43_uc011bzl.1_Missense_Mutation_p.C261Y	p.C288Y	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN			7	1045	+			288			Helical; (Potential).		B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	c.863G>A	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	G	6.576	0.474540	0.12521	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.41758	1.57;0.99	3.91	2.07	0.26955	.	0.883778	0.09820	N	0.751636	T	0.40297	0.1111	L	0.57536	1.79	0.09310	N	1	D	0.54964	0.969	P	0.47827	0.558	T	0.33059	-0.9883	9	.	.	.	.	1.4026	0.02274	0.139:0.2223:0.4111:0.2276	.	288	Q9H720	PG2IP_HUMAN	Y	288;261	ENSP00000226432:C288Y;ENSP00000422802:C261Y	.	C	+	2	0	CWH43	48700569	0.819000	0.29175	0.034000	0.17996	0.002000	0.02628	1.213000	0.32407	0.553000	0.29044	-0.293000	0.09583	TGT		PASS	0.502	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		52	49	52	49	---	---	---	---
TECRL	253017	broad.mit.edu	37	4	65180419	65180419	+	Silent	SNP	T	T	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr4:65180419T>C	ENST00000381210.3	-	5	608	c.498A>G	c.(496-498)ccA>ccG	p.P166P	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Silent_p.P166P	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	166					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.P166P(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CATATATACATGGGATCCTCA	0.383																																						uc003hcv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(496-498)CCA>CCG		steroid 5 alpha-reductase 2-like 2							115.0	111.0	112.0					4																	65180419		2203	4300	6503	SO:0001819	synonymous_variant	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65180419T>C	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.498A>G	4.37:g.65180419T>C						TECRL_uc003hcw.2_Silent_p.P166P	p.P166P	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			5	607	-			166						Silent	SNP	ENST00000381210.3	37	c.498A>G	CCDS33990.1																																																																																				PASS	0.383	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		3	77	3	77	---	---	---	---
MIR1269A	100302177	broad.mit.edu	37	4	67142549	67142549	+	RNA	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr4:67142549C>A	ENST00000408636.1	+	0	8					NR_031673.1				microRNA 1269a																		cactggattgcctagaccagg	0.557																																						hsa-mir-1269|MI0006406																			0					0															122.0	111.0	115.0					4																	67142549		1568	3582	5150			100302177							g.chr4:67142549C>A			4	2011-11-14	2011-11-14	2011-11-14	ENSG00000221563	ENSG00000221563		"""ncRNAs / Micro RNAs"""	35337	non-coding RNA	RNA, micro			"""microRNA 1269"""	MIRN1269, MIR1269			Standard	NR_031673		Approved	hsa-mir-1269					4.37:g.67142549C>A																+									RNA	SNP	ENST00000408636.1	37	c.8C>A																																																																																					PASS	0.557	MIR1269A-201	KNOWN	basic	miRNA	miRNA		NR_031673		80	83	80	83	---	---	---	---
SLC4A4	8671	broad.mit.edu	37	4	72316958	72316958	+	Missense_Mutation	SNP	A	A	G	rs370710771		TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr4:72316958A>G	ENST00000264485.5	+	11	1379	c.1262A>G	c.(1261-1263)cAt>cGt	p.H421R	SLC4A4_ENST00000512686.1_Missense_Mutation_p.H377R|SLC4A4_ENST00000351898.6_Missense_Mutation_p.H421R|SLC4A4_ENST00000425175.1_Missense_Mutation_p.H421R|SLC4A4_ENST00000340595.3_Missense_Mutation_p.H377R|SLC4A4_ENST00000514331.1_3'UTR	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	421					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.H377R(1)|p.H421R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GATACGCCCCATGATGGAGGT	0.443																																						uc003hfy.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|kidney(1)|skin(1)	5						c.(1261-1263)CAT>CGT		solute carrier family 4, sodium bicarbonate		A	ARG/HIS,ARG/HIS,ARG/HIS	2,4404	4.2+/-10.8	0,2,2201	205.0	170.0	182.0		1262,1262,1130	6.1	1.0	4		182	0,8600		0,0,4300	no	missense,missense,missense	SLC4A4	NM_001098484.2,NM_001134742.1,NM_003759.3	29,29,29	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	benign,benign,benign	421/1080,421/1095,377/1036	72316958	2,13004	2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72316958A>G	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1262A>G	4.37:g.72316958A>G	ENSP00000264485:p.His421Arg					SLC4A4_uc010iic.2_Missense_Mutation_p.H421R|SLC4A4_uc010iib.2_Missense_Mutation_p.H421R|SLC4A4_uc003hfz.2_Missense_Mutation_p.H421R|SLC4A4_uc003hgc.3_Missense_Mutation_p.H377R|SLC4A4_uc010iid.2_5'UTR|SLC4A4_uc003hga.2_Missense_Mutation_p.H299R|SLC4A4_uc003hgb.3_Missense_Mutation_p.H377R	p.H421R	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		11	1379	+			421			Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.1262A>G	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.471532	0.43942	4.54E-4	0.0	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	T;T;T;T;T	0.77098	-1.07;-1.07;-0.69;0.12;-1.07	6.08	6.08	0.98989	.	0.041859	0.85682	D	0.000000	T	0.78898	0.4356	M	0.76002	2.32	0.80722	D	1	B;B;B;B;B;B	0.33807	0.004;0.004;0.001;0.426;0.017;0.002	B;B;B;B;B;B	0.36845	0.003;0.004;0.005;0.234;0.005;0.002	T	0.75847	-0.3173	10	0.22706	T	0.39	.	16.6438	0.85155	1.0:0.0:0.0:0.0	.	421;421;377;377;401;421	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	R	421;421;421;377;377	ENSP00000264485:H421R;ENSP00000393557:H421R;ENSP00000307349:H421R;ENSP00000422400:H377R;ENSP00000344272:H377R	ENSP00000264485:H421R	H	+	2	0	SLC4A4	72535822	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	5.957000	0.70323	2.333000	0.79357	0.533000	0.62120	CAT		PASS	0.443	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		45	41	45	41	---	---	---	---
MTTP	4547	broad.mit.edu	37	4	100522794	100522794	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr4:100522794G>A	ENST00000265517.5	+	10	1470	c.1267G>A	c.(1267-1269)Gac>Aac	p.D423N	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Missense_Mutation_p.D423N|MTTP_ENST00000511045.1_Missense_Mutation_p.D450N			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	423	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.D423N(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TGGTAGCAGTGACATCAGAGA	0.358																																						uc003hvc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1267-1269)GAC>AAC		microsomal triglyceride transfer protein large	Hesperetin(DB01094)						156.0	150.0	152.0					4																	100522794		2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100522794G>A		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1267G>A	4.37:g.100522794G>A	ENSP00000265517:p.Asp423Asn					MTTP_uc011cej.1_Missense_Mutation_p.D450N	p.D423N	NM_000253	NP_000244	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	11	1523	+			423			Vitellogenin.		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.1267G>A	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371006	0.82573	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517;ENST00000538053	T;T;T	0.38722	1.12;1.12;1.12	5.8	5.8	0.92144	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.151558	0.64402	D	0.000012	T	0.60104	0.2243	M	0.65975	2.015	0.58432	D	0.999998	P;D	0.64830	0.57;0.994	B;D	0.63793	0.192;0.918	T	0.51309	-0.8722	10	0.17369	T	0.5	-8.5388	18.2315	0.89936	0.0:0.0:1.0:0.0	.	450;423	E9PBP6;P55157	.;MTP_HUMAN	N	450;423;423;423	ENSP00000427679:D450N;ENSP00000400821:D423N;ENSP00000265517:D423N	ENSP00000265517:D423N	D	+	1	0	MTTP	100741817	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	8.733000	0.91539	2.740000	0.93945	0.650000	0.86243	GAC		PASS	0.358	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			60	76	60	76	---	---	---	---
ETNPPL	64850	broad.mit.edu	37	4	109674095	109674095	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr4:109674095C>T	ENST00000296486.3	-	6	728	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	ETNPPL_ENST00000411864.2_Missense_Mutation_p.E186K|ETNPPL_ENST00000510706.1_Missense_Mutation_p.E152K|ETNPPL_ENST00000512646.1_Missense_Mutation_p.E134K	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	192						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.E192K(1)									TTCTTCACTTCATCTGCATAA	0.363																																						uc003hzc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(574-576)GAA>AAA		alanine-glyoxylate aminotransferase 2-like 1							187.0	177.0	181.0					4																	109674095		2203	4300	6503	SO:0001583	missense	64850				cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr4:109674095C>T	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.574G>A	4.37:g.109674095C>T	ENSP00000296486:p.Glu192Lys					AGXT2L1_uc010imc.2_Missense_Mutation_p.E186K|AGXT2L1_uc011cfm.1_Missense_Mutation_p.E152K|AGXT2L1_uc011cfn.1_Missense_Mutation_p.E119K|AGXT2L1_uc011cfo.1_Missense_Mutation_p.E134K	p.E192K	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000281)	6	755	-			192					B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	c.574G>A	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449833	0.84101	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.46	5.46	0.80206	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.248903	0.47093	D	0.000257	T	0.58921	0.2156	L	0.52823	1.66	0.53005	D	0.999961	P;P;D	0.60575	0.915;0.896;0.988	P;P;P	0.62184	0.77;0.66;0.899	T	0.54410	-0.8298	9	.	.	.	-27.9784	19.3072	0.94167	0.0:1.0:0.0:0.0	.	134;186;192	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	K	192;186;134;152	ENSP00000296486:E192K;ENSP00000392269:E186K;ENSP00000427065:E134K;ENSP00000423240:E152K	.	E	-	1	0	AGXT2L1	109893544	1.000000	0.71417	0.956000	0.39512	0.824000	0.46624	4.910000	0.63321	2.555000	0.86185	0.655000	0.94253	GAA		PASS	0.363	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		42	44	42	44	---	---	---	---
MARCH1	55016	broad.mit.edu	37	4	165118178	165118178	+	Intron	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr4:165118178C>A	ENST00000503008.1	-	2	864				MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000508725.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R229M(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				cttctgacccctttcttcttc	0.428																																						uc011cjk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(685-687)AGG>ATG		acidic nuclear phosphoprotein 32C							147.0	129.0	135.0					4																	165118178		2203	4300	6503	SO:0001627	intron_variant	23520							g.chr4:165118178C>A	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85364G>T	4.37:g.165118178C>A						MARCH1_uc003iqs.1_Intron	p.R229M	NM_012403	NP_036535	O43423	AN32C_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.242)	1	686	-	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	229					D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	c.686G>T	CCDS54814.1																																																																																				PASS	0.428	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		20	16	20	16	---	---	---	---
DDX60	55601	broad.mit.edu	37	4	169204618	169204618	+	Silent	SNP	C	C	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr4:169204618C>G	ENST00000393743.3	-	13	1992	c.1701G>C	c.(1699-1701)ggG>ggC	p.G567G		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	567					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.G567G(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TGCTCTTGGGCCCACTAAAAT	0.343																																						uc003irp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1699-1701)GGG>GGC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							67.0	69.0	68.0					4																	169204618		2203	4300	6503	SO:0001819	synonymous_variant	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169204618C>G	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1701G>C	4.37:g.169204618C>G							p.G567G	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	13	1993	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	567					Q6PK35|Q9NVE3	Silent	SNP	ENST00000393743.3	37	c.1701G>C	CCDS34097.1																																																																																				PASS	0.343	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		3	70	3	70	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177017731	177017731	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr4:177017731C>A	ENST00000280190.4	+	2	217	c.61C>A	c.(61-63)Caa>Aaa	p.Q21K	WDR17_ENST00000508596.1_Intron|WDR17_ENST00000507824.2_Missense_Mutation_p.Q21K|SNORA51_ENST00000364646.1_RNA|WDR17_ENST00000393643.2_Intron|WDR17_ENST00000509792.1_Intron			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	21								p.Q21K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGAAGGACTACAAAGAGTAAG	0.338																																						uc003iuj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(61-63)CAA>AAA		WD repeat domain 17 isoform 1							151.0	150.0	150.0					4																	177017731		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177017731C>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.61C>A	4.37:g.177017731C>A	ENSP00000280190:p.Gln21Lys					WDR17_uc003iuk.2_Intron|WDR17_uc003ium.3_Intron|WDR17_uc003iul.1_Intron	p.Q21K	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	2	217	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	21					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.61C>A	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.019032	0.54576	.	.	ENSG00000150627	ENST00000280190;ENST00000507824	T	0.56103	0.48	5.59	4.7	0.59300	.	0.241947	0.28933	N	0.013678	T	0.32971	0.0847	N	0.14661	0.345	0.80722	D	1	B	0.28055	0.199	B	0.27380	0.079	T	0.12116	-1.0560	10	0.07482	T	0.82	-13.2509	15.2303	0.73383	0.0:0.8604:0.1396:0.0	.	21	Q8IZU2	WDR17_HUMAN	K	21	ENSP00000280190:Q21K	ENSP00000280190:Q21K	Q	+	1	0	WDR17	177254725	0.999000	0.42202	0.996000	0.52242	0.978000	0.69477	2.043000	0.41231	2.810000	0.96702	0.650000	0.86243	CAA		PASS	0.338	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			22	34	22	34	---	---	---	---
ICE1	23379	broad.mit.edu	37	5	5465333	5465333	+	Silent	SNP	A	A	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr5:5465333A>C	ENST00000296564.7	+	13	6108	c.5886A>C	c.(5884-5886)acA>acC	p.T1962T		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1962					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.T1962T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTAGCACAACAAAAAAGGTAT	0.383																																						uc003jdm.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(5884-5886)ACA>ACC		hypothetical protein LOC23379							49.0	42.0	44.0					5																	5465333		1870	4097	5967	SO:0001819	synonymous_variant	23379							g.chr5:5465333A>C																												ENST00000296564.7:c.5886A>C	5.37:g.5465333A>C							p.T1962T	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	6108	+			1962					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.5886A>C	CCDS47187.1																																																																																				PASS	0.383	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			7	5	7	5	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	22078744	22078744	+	Silent	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr5:22078744C>A	ENST00000382254.1	-	5	1128	c.42G>T	c.(40-42)ctG>ctT	p.L14L	CDH12_ENST00000504376.2_Silent_p.L14L|CDH12_ENST00000522262.1_Silent_p.L14L	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	14					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L14L(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CTCCATCAAACAGAACCCAGA	0.453										HNSCC(59;0.17)																												uc010iuc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(40-42)CTG>CTT		cadherin 12, type 2 preproprotein							163.0	167.0	166.0					5																	22078744		2203	4300	6503	SO:0001819	synonymous_variant	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:22078744C>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.42G>T	5.37:g.22078744C>A		HNSCC(59;0.17)				CDH12_uc011cno.1_Silent_p.L14L|CDH12_uc003jgk.2_Silent_p.L14L	p.L14L	NM_004061	NP_004052	P55289	CAD12_HUMAN			2	500	-			14					B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	ENST00000382254.1	37	c.42G>T	CCDS3890.1																																																																																				PASS	0.453	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		87	174	87	174	---	---	---	---
GDNF	2668	broad.mit.edu	37	5	37816199	37816199	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr5:37816199C>A	ENST00000326524.2	-	3	389	c.190G>T	c.(190-192)Gtc>Ttc	p.V64F	GDNF_ENST00000344622.4_Missense_Mutation_p.V38F|GDNF_ENST00000515058.1_Missense_Mutation_p.V38F|GDNF_ENST00000427982.1_Missense_Mutation_p.V81F|GDNF_ENST00000381826.4_Missense_Mutation_p.V55F	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	64					adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.V64F(1)|p.V81F(1)		NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					AAATCCATGACATCATCGAAC	0.413																																						uc011cpi.1																			2	Substitution - Missense(2)		lung(2)		0						c.(190-192)GTC>TTC		glial cell derived neurotrophic factor isoform 1							57.0	60.0	59.0					5																	37816199		2203	4300	6503	SO:0001583	missense	2668				adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	g.chr5:37816199C>A		CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"""Endogenous ligands"""	4232	protein-coding gene	gene with protein product	"""astrocyte-derived trophic factor"", ""glial cell line derived neurotrophic factor"", ""glial derived neurotrophic factor"""	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.190G>T	5.37:g.37816199C>A	ENSP00000317145:p.Val64Phe					GDNF_uc011cpc.1_Intron|GDNF_uc011cpd.1_Missense_Mutation_p.V12F|GDNF_uc011cpe.1_Missense_Mutation_p.V38F|GDNF_uc011cpf.1_Missense_Mutation_p.V38F|GDNF_uc011cpg.1_Missense_Mutation_p.V81F|GDNF_uc011cph.1_Missense_Mutation_p.V55F	p.V64F	NM_000514	NP_000505	P39905	GDNF_HUMAN			3	390	-	all_lung(31;0.00118)		64					B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	Missense_Mutation	SNP	ENST00000326524.2	37	c.190G>T	CCDS3922.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133326	0.77662	.	.	ENSG00000168621	ENST00000326524;ENST00000344622;ENST00000515058;ENST00000427982;ENST00000381826;ENST00000502572;ENST00000510177	D;D;D;D;D;D;D	0.96011	-3.84;-3.63;-3.63;-3.88;-3.65;-2.09;-2.09	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.97636	0.9225	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.85130	0.916;0.997;0.976;0.976	D	0.97609	1.0128	10	0.72032	D	0.01	-0.0082	20.5407	0.99260	0.0:1.0:0.0:0.0	.	64;55;81;38	P39905;P39905-4;P39905-3;P39905-2	GDNF_HUMAN;.;.;.	F	64;38;38;81;55;38;38	ENSP00000317145:V64F;ENSP00000339703:V38F;ENSP00000425928:V38F;ENSP00000409007:V81F;ENSP00000371248:V55F;ENSP00000423557:V38F;ENSP00000424592:V38F	ENSP00000317145:V64F	V	-	1	0	GDNF	37851956	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.487000	0.81328	2.865000	0.98341	0.655000	0.94253	GTC		PASS	0.413	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207606.1	NM_000514		35	59	35	59	---	---	---	---
IPO11	51194	broad.mit.edu	37	5	61779058	61779058	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr5:61779058G>T	ENST00000325324.6	+	10	1128	c.959G>T	c.(958-960)tGt>tTt	p.C320F	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.C360F	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	320					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.C320F(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		ATTGTCCAATGTATGAATCTT	0.294																																						uc003jtc.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)	4						c.(958-960)TGT>TTT		Ran binding protein 11 isoform 2							74.0	74.0	74.0					5																	61779058		2202	4298	6500	SO:0001583	missense	51194					cytoplasm|nucleus	protein binding	g.chr5:61779058G>T	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.959G>T	5.37:g.61779058G>T	ENSP00000316651:p.Cys320Phe					IPO11_uc011cqr.1_Missense_Mutation_p.C360F|IPO11_uc003jtb.1_Missense_Mutation_p.C320F	p.C320F	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	10	1149	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	320			HEAT 3.		A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	c.959G>T	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490882	0.84962	.	.	ENSG00000086200	ENST00000325324;ENST00000409296	T;T	0.68025	-0.3;-0.3	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.041945	0.85682	D	0.000000	D	0.83124	0.5186	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.981	T	0.81132	-0.1072	10	0.30854	T	0.27	.	19.4893	0.95044	0.0:0.0:1.0:0.0	.	360;320	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	F	320;360	ENSP00000316651:C320F;ENSP00000386992:C360F	ENSP00000316651:C320F	C	+	2	0	IPO11	61814815	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	9.087000	0.94110	2.665000	0.90641	0.650000	0.86243	TGT		PASS	0.294	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		22	23	22	23	---	---	---	---
ADAMTS6	11174	broad.mit.edu	37	5	64483906	64483906	+	5'UTR	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr5:64483906G>T	ENST00000314351.5	-	0	506							Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6							proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V949V(1)|p.V120V(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GCTCTTTTTCGACAGGCCGGT	0.507																																						uc003jtp.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(2845-2847)GTC>GTA		ADAM metallopeptidase with thrombospondin type 1							143.0	136.0	139.0					5																	64483906		2203	4300	6503	SO:0001623	5_prime_UTR_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64483906G>T	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000314351.5:c.-816C>A	5.37:g.64483906G>T						ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA	p.V949V	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	22	3661	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	949			TSP type-1 3.		Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Silent	SNP	ENST00000314351.5	37	c.2847C>A																																																																																					PASS	0.507	ADAMTS6-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000157334.2	NM_197941		66	74	66	74	---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113740157	113740157	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr5:113740157C>A	ENST00000512097.3	+	4	1623	c.605C>A	c.(604-606)gCa>gAa	p.A202E	KCNN2_ENST00000264773.3_Missense_Mutation_p.A202E|KCNN2_ENST00000507750.1_Intron			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	202					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.A202E(2)		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)	GACAATGGAGCAGATGACTGG	0.383																																						uc003kqo.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(604-606)GCA>GAA		small conductance calcium-activated potassium							157.0	150.0	152.0					5																	113740157		2202	4300	6502	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113740157C>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.605C>A	5.37:g.113740157C>A	ENSP00000427120:p.Ala202Glu						p.A202E	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)	3	1062	+		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)	202					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.605C>A	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276398	0.80580	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	D;D	0.98937	-5.25;-5.25	5.29	4.4	0.53042	Potassium channel, calcium-activated, SK, conserved region (1);	0.049142	0.85682	N	0.000000	D	0.99208	0.9725	M	0.90252	3.1	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	D	0.99160	1.0861	10	0.87932	D	0	.	14.6653	0.68904	0.1468:0.8532:0.0:0.0	.	202	Q9H2S1	KCNN2_HUMAN	E	202	ENSP00000427120:A202E;ENSP00000264773:A202E	ENSP00000264773:A202E	A	+	2	0	KCNN2	113768056	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.662000	0.83803	1.178000	0.42870	0.462000	0.41574	GCA		PASS	0.383	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		58	66	58	66	---	---	---	---
PCDHGA2	56113	broad.mit.edu	37	5	140720231	140720231	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr5:140720231C>T	ENST00000394576.2	+	1	1693	c.1693C>T	c.(1693-1695)Cct>Tct	p.P565S	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	565					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P565S(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCCTGTACCCTGCCTTCCC	0.632																																						uc003ljk.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(1693-1695)CCT>TCT		protocadherin gamma subfamily A, 2 isoform 1							139.0	141.0	141.0					5																	140720231		2203	4300	6503	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720231C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1693C>T	5.37:g.140720231C>T	ENSP00000378077:p.Pro565Ser					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.P565S	p.P565S	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1878	+			565			Extracellular (Potential).		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1693C>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	13.43	2.234193	0.39498	.	.	ENSG00000081853	ENST00000394576	T	0.02974	4.09	5.02	4.15	0.48705	Cadherin-like (1);	0.000000	0.41097	U	0.000942	T	0.12860	0.0312	M	0.65498	2.005	0.36528	D	0.870575	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.996	T	0.03493	-1.1031	10	0.87932	D	0	.	13.3276	0.60469	0.0:0.9222:0.0:0.0778	.	565;565	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	S	565	ENSP00000378077:P565S	ENSP00000378077:P565S	P	+	1	0	PCDHGA2	140700415	1.000000	0.71417	0.144000	0.22314	0.003000	0.03518	4.446000	0.60014	1.266000	0.44231	-0.225000	0.12378	CCT		PASS	0.632	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		73	63	73	63	---	---	---	---
FAM71B	153745	broad.mit.edu	37	5	156590281	156590281	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr5:156590281C>G	ENST00000302938.4	-	2	1090	c.995G>C	c.(994-996)gGt>gCt	p.G332A		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	332						nucleus (GO:0005634)		p.G332A(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTGGCAGCACCTGCCATGGA	0.562																																						uc003lwn.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(994-996)GGT>GCT		family with sequence similarity 71, member B							112.0	109.0	110.0					5																	156590281		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156590281C>G		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.995G>C	5.37:g.156590281C>G	ENSP00000305596:p.Gly332Ala						p.G332A	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1095	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	332					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.995G>C	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	9.385	1.073953	0.20147	.	.	ENSG00000170613	ENST00000302938	T	0.04015	3.73	3.9	-0.226	0.13106	.	0.338950	0.21563	N	0.072535	T	0.04272	0.0118	L	0.57536	1.79	0.09310	N	1	P	0.38535	0.635	B	0.27608	0.081	T	0.34775	-0.9815	10	0.42905	T	0.14	-0.9258	8.1077	0.30896	0.1702:0.319:0.5108:0.0	.	332	Q8TC56	FA71B_HUMAN	A	332	ENSP00000305596:G332A	ENSP00000305596:G332A	G	-	2	0	FAM71B	156522859	0.000000	0.05858	0.019000	0.16419	0.119000	0.20118	0.044000	0.13992	-0.067000	0.12976	0.655000	0.94253	GGT		PASS	0.562	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		9	159	9	159	---	---	---	---
DPCR1	135656	broad.mit.edu	37	6	30919763	30919763	+	Silent	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr6:30919763G>A	ENST00000462446.1	+	2	3550	c.3522G>A	c.(3520-3522)acG>acA	p.T1174T	DPCR1_ENST00000304311.2_Silent_p.T16T|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	314						integral component of membrane (GO:0016021)		p.T1174T(1)|p.T16T(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						AAAAGACCACGTCAACCACAG	0.468																																						uc003nsg.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(3520-3522)ACG>ACA		diffuse panbronchiolitis critical region 1							156.0	157.0	157.0					6																	30919763		2203	4300	6503	SO:0001819	synonymous_variant	135656					integral to membrane		g.chr6:30919763G>A	AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.3522G>A	6.37:g.30919763G>A							p.T1174T	NM_080870	NP_543146	Q3MIW9	DPCR1_HUMAN			2	3522	+			305			Extracellular (Potential).|Thr-rich.		C9IZC0|Q658M7|Q8WYN2	Silent	SNP	ENST00000462446.1	37	c.3522G>A	CCDS4692.2																																																																																				PASS	0.468	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870		5	63	5	63	---	---	---	---
SLC26A8	116369	broad.mit.edu	37	6	35922948	35922948	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr6:35922948C>T	ENST00000490799.1	-	17	2566	c.2213G>A	c.(2212-2214)gGg>gAg	p.G738E	SLC26A8_ENST00000394602.2_Missense_Mutation_p.G633E|SLC26A8_ENST00000355574.2_Missense_Mutation_p.G738E	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.G738E(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TACGACTAACCCCCGTGAATC	0.527																																						uc003olm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2212-2214)GGG>GAG		solute carrier family 26, member 8 isoform a							105.0	97.0	100.0					6																	35922948		2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35922948C>T	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2213G>A	6.37:g.35922948C>T	ENSP00000417638:p.Gly738Glu					SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Missense_Mutation_p.G320E|SLC26A8_uc003oln.2_Missense_Mutation_p.G738E|SLC26A8_uc003oll.2_Missense_Mutation_p.G633E	p.G738E	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN			17	2324	-			738			Interaction with RACGAP1.|STAS.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000490799.1	37	c.2213G>A	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.513200	0.44660	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.94092	-3.35;-3.35;-3.35	4.68	1.77	0.24775	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.462043	0.20256	N	0.095961	D	0.93301	0.7865	M	0.70842	2.15	0.09310	N	1	D;P;D	0.67145	0.982;0.503;0.996	P;B;P	0.62298	0.864;0.214;0.9	D	0.88654	0.3184	10	0.87932	D	0	.	13.0597	0.59000	0.0:0.5673:0.4327:0.0	.	738;633;320	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	E	738;633;738	ENSP00000417638:G738E;ENSP00000378100:G633E;ENSP00000347778:G738E	ENSP00000347778:G738E	G	-	2	0	SLC26A8	36030926	0.687000	0.27671	0.004000	0.12327	0.001000	0.01503	1.837000	0.39201	0.241000	0.21283	-0.211000	0.12701	GGG		PASS	0.527	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			37	43	37	43	---	---	---	---
PRIM2	5558	broad.mit.edu	37	6	57467142	57467142	+	3'UTR	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr6:57467142C>A	ENST00000389488.2	+	0	1170				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.D361E(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AGAGGACAGACTATACACCTT	0.438																																						uc003pdx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1081-1083)GAC>GAA		DNA primase polypeptide 2							140.0	131.0	134.0					6																	57467142		1997	4188	6185	SO:0001624	3_prime_UTR_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57467142C>A		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1167C>A	6.37:g.57467142C>A							p.D361E	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	12	1170	+			361					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000389488.2	37	c.1083C>A																																																																																					PASS	0.438	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947		9	103	9	103	---	---	---	---
B3GAT2	135152	broad.mit.edu	37	6	71666003	71666003	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr6:71666003C>A	ENST00000230053.6	-	1	738	c.130G>T	c.(130-132)Gcg>Tcg	p.A44S		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	44					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)	p.A44S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						CGGCCCACCGCGTAGGGAGAG	0.706																																						uc003pfv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(130-132)GCG>TCG		beta-1,3-glucuronyltransferase 2							9.0	13.0	11.0					6																	71666003		2076	4041	6117	SO:0001583	missense	135152				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr6:71666003C>A	AB075843	CCDS4974.1	6q12	2014-07-08	2014-07-08		ENSG00000112309	ENSG00000112309	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	922	protein-coding gene	gene with protein product	"""glucuronosyltransferase S"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2"""	607497				12383500	Standard	NM_080742		Approved	GlcAT-S	uc003pfv.3	Q9NPZ5	OTTHUMG00000014997	ENST00000230053.6:c.130G>T	6.37:g.71666003C>A	ENSP00000230053:p.Ala44Ser					B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.A44S	p.A44S	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN			1	786	-			44			Lumenal (Potential).		Q5JS09|Q8TF38|Q96NK4	Missense_Mutation	SNP	ENST00000230053.6	37	c.130G>T	CCDS4974.1	.	.	.	.	.	.	.	.	.	.	C	1.560	-0.536870	0.04082	.	.	ENSG00000112309	ENST00000230053	T	0.64438	-0.1	4.03	2.17	0.27698	.	0.537595	0.19059	N	0.123826	T	0.22742	0.0549	L	0.54323	1.7	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.25433	-1.0132	10	0.06891	T	0.86	-14.9778	3.6811	0.08310	0.1945:0.5953:0.0:0.2102	.	44;44	Q29RV3;Q9NPZ5	.;B3GA2_HUMAN	S	44	ENSP00000230053:A44S	ENSP00000230053:A44S	A	-	1	0	B3GAT2	71722724	0.088000	0.21588	0.002000	0.10522	0.008000	0.06430	-0.299000	0.08254	0.428000	0.26173	0.650000	0.86243	GCG		PASS	0.706	B3GAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041150.2	NM_080742		6	6	6	6	---	---	---	---
SNAP91	9892	broad.mit.edu	37	6	84417641	84417641	+	Silent	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr6:84417641C>A	ENST00000439399.2	-	2	322	c.6G>T	c.(4-6)tcG>tcT	p.S2S	SNAP91_ENST00000520213.1_Silent_p.S2S|SNAP91_ENST00000437520.1_Silent_p.S2S|SNAP91_ENST00000520302.1_Silent_p.S2S|SNAP91_ENST00000521485.1_Silent_p.S2S|SNAP91_ENST00000195649.6_Silent_p.S2S|SNAP91_ENST00000369694.2_Silent_p.S2S|SNAP91_ENST00000521743.1_Silent_p.S2S|SNAP91_ENST00000428679.2_Silent_p.S2S	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	2					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)	p.S2S(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCGTTTGGCCCGACATCTTCT	0.587																																						uc011dze.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(4-6)TCG>TCT		synaptosomal-associated protein, 91kDa homolog							54.0	59.0	58.0					6																	84417641		1981	4165	6146	SO:0001819	synonymous_variant	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84417641C>A	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.6G>T	6.37:g.84417641C>A						SNAP91_uc003pkb.2_5'UTR|SNAP91_uc003pkc.2_Silent_p.S2S|SNAP91_uc003pkd.2_Silent_p.S2S|SNAP91_uc003pka.2_Silent_p.S2S|SNAP91_uc011dzf.1_5'UTR	p.S2S	NM_014841	NP_055656	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	2	323	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	2					A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Silent	SNP	ENST00000439399.2	37	c.6G>T	CCDS47455.1																																																																																				PASS	0.587	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			24	13	24	13	---	---	---	---
GPRC6A	222545	broad.mit.edu	37	6	117113452	117113452	+	Silent	SNP	G	G	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr6:117113452G>C	ENST00000310357.3	-	6	2655	c.2634C>G	c.(2632-2634)gtC>gtG	p.V878V	GPRC6A_ENST00000368549.3_Silent_p.V807V|GPRC6A_ENST00000530250.1_Silent_p.V703V	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	878					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V878V(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGGTCATTGTGACATTGCCGC	0.478																																						uc003pxj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)	6						c.(2632-2634)GTC>GTG		G protein-coupled receptor, family C, group 6,							148.0	143.0	145.0					6																	117113452		2203	4300	6503	SO:0001819	synonymous_variant	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117113452G>C	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2634C>G	6.37:g.117113452G>C						GPRC6A_uc003pxk.1_Silent_p.V703V|GPRC6A_uc003pxl.1_Silent_p.V807V	p.V878V	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	6	2656	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	878			Cytoplasmic (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Silent	SNP	ENST00000310357.3	37	c.2634C>G	CCDS5112.1																																																																																				PASS	0.478	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			56	47	56	47	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129612857	129612857	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr6:129612857A>G	ENST00000421865.2	+	20	2897	c.2848A>G	c.(2848-2850)Aaa>Gaa	p.K950E		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	950	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.K950E(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAGATGTGACAAATGCAAGGT	0.443																																						uc003qbn.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(2848-2850)AAA>GAA		laminin alpha 2 subunit isoform a precursor							99.0	83.0	89.0					6																	129612857		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129612857A>G	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2848A>G	6.37:g.129612857A>G	ENSP00000400365:p.Lys950Glu					LAMA2_uc003qbo.2_Missense_Mutation_p.K950E	p.K950E	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	20	2953	+			950			Laminin EGF-like 9.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.2848A>G	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.126341	0.00342	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.60548	0.18	5.56	2.6	0.31112	EGF-like, laminin (4);	0.466541	0.20944	N	0.082863	T	0.06188	0.0160	N	0.01146	-0.985	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.41680	-0.9495	10	0.06494	T	0.89	.	4.7462	0.13038	0.2523:0.3107:0.437:0.0	.	950;950	A6NF00;P24043	.;LAMA2_HUMAN	E	950	ENSP00000400365:K950E	ENSP00000346769:K950E	K	+	1	0	LAMA2	129654550	0.001000	0.12720	0.302000	0.25058	0.012000	0.07955	0.347000	0.20014	0.351000	0.24027	-1.505000	0.00955	AAA		PASS	0.443	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			28	22	28	22	---	---	---	---
AGPAT4	56895	broad.mit.edu	37	6	161587397	161587397	+	Silent	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr6:161587397C>T	ENST00000320285.4	-	3	443	c.231G>A	c.(229-231)acG>acA	p.T77T	AGPAT4_ENST00000366911.5_Intron|AGPAT4_ENST00000366905.3_Silent_p.T77T|AGPAT4_ENST00000366908.5_Silent_p.T77T|AGPAT4_ENST00000366906.5_Silent_p.T15T|AGPAT4_ENST00000457520.2_Intron	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	77					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.T77T(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CGCGCGGGTCCGTGAAGATGG	0.527																																						uc003qtr.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(229-231)ACG>ACA		1-acylglycerol-3-phosphate O-acyltransferase 4							91.0	79.0	83.0					6																	161587397		2203	4300	6503	SO:0001819	synonymous_variant	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161587397C>T	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.231G>A	6.37:g.161587397C>T						AGPAT4_uc003qts.1_Intron|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_RNA|AGPAT4_uc011egc.1_Silent_p.T77T|AGPAT4_uc011egd.1_Silent_p.T15T|AGPAT4_uc011ege.1_Intron	p.T77T	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	3	458	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	77					B4DSF9|Q5TEF0	Silent	SNP	ENST00000320285.4	37	c.231G>A	CCDS5280.1																																																																																				PASS	0.527	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		23	32	23	32	---	---	---	---
INTS1	26173	broad.mit.edu	37	7	1527456	1527456	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr7:1527456T>C	ENST00000404767.3	-	19	2541	c.2456A>G	c.(2455-2457)aAg>aGg	p.K819R	INTS1_ENST00000389470.4_Missense_Mutation_p.K947R	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	819					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.K947R(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GATGGTCTGCTTGGTGGACGC	0.692																																						uc003skn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2455-2457)AAG>AGG		integrator complex subunit 1							75.0	97.0	89.0					7																	1527456		2190	4279	6469	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1527456T>C	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2456A>G	7.37:g.1527456T>C	ENSP00000385722:p.Lys819Arg					INTS1_uc003skp.1_Missense_Mutation_p.K166R	p.K819R	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	19	2557	-		Ovarian(82;0.0253)	819					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.2456A>G	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.363469	0.41902	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.49720	0.79;0.77	5.04	3.88	0.44766	.	0.048428	0.85682	N	0.000000	T	0.33990	0.0882	L	0.31420	0.93	0.48395	D	0.999649	B;B	0.10296	0.003;0.003	B;B	0.12837	0.005;0.008	T	0.07252	-1.0782	10	0.28530	T	0.3	.	10.6269	0.45512	0.0:0.0767:0.0:0.9232	.	947;819	A4D213;Q8N201	.;INT1_HUMAN	R	819;947	ENSP00000385722:K819R;ENSP00000374121:K947R	ENSP00000374121:K947R	K	-	2	0	INTS1	1493982	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	5.808000	0.69165	0.762000	0.33152	0.459000	0.35465	AAG		PASS	0.692	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			18	62	18	62	---	---	---	---
STK31	56164	broad.mit.edu	37	7	23757098	23757098	+	Splice_Site	SNP	A	A	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr7:23757098A>G	ENST00000355870.3	+	4	269		c.e4-1		STK31_ENST00000354639.3_Splice_Site|STK31_ENST00000428484.1_Splice_Site|STK31_ENST00000433467.2_Splice_Site	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31							acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TAATCTTTCTAGAGTATCAAT	0.353																																						uc003sws.3																			1	Unknown(1)		lung(1)	skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.e4-2		serine/threonine kinase 31 isoform a							38.0	39.0	39.0					7																	23757098		2203	4300	6503	SO:0001630	splice_region_variant	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23757098A>G	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.151-1A>G	7.37:g.23757098A>G						STK31_uc003swt.3_Splice_Site_p.S28_splice|STK31_uc011jze.1_Splice_Site_p.S51_splice|STK31_uc010kuq.2_Splice_Site_p.S28_splice	p.S51_splice	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			4	218	+								B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Splice_Site	SNP	ENST00000355870.3	37	c.151_splice	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.074924	0.55646	.	.	ENSG00000196335	ENST00000355870;ENST00000456014;ENST00000433467;ENST00000354639;ENST00000531170;ENST00000444333;ENST00000428484	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9446	0.58365	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STK31	23723623	1.000000	0.71417	0.994000	0.49952	0.759000	0.43091	5.432000	0.66514	2.046000	0.60703	0.482000	0.46254	.		PASS	0.353	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414	Intron	13	28	13	28	---	---	---	---
NFE2L3	9603	broad.mit.edu	37	7	26224208	26224208	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr7:26224208C>A	ENST00000056233.3	+	4	1149	c.890C>A	c.(889-891)tCt>tAt	p.S297Y		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	297					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.S297Y(1)|p.S297C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GGCATGAATTCTTCAGCACAT	0.403																																						uc003sxq.2																			2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	skin(3)|ovary(1)	4						c.(889-891)TCT>TAT		nuclear factor erythroid 2-like 3							138.0	132.0	134.0					7																	26224208		2203	4300	6503	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26224208C>A	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.890C>A	7.37:g.26224208C>A	ENSP00000056233:p.Ser297Tyr						p.S297Y	NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN			4	1162	+			297					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.890C>A	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017611	0.75161	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.33865	1.39	4.6	2.73	0.32206	.	1.475580	0.03697	N	0.247993	T	0.41143	0.1146	M	0.67953	2.075	0.09310	N	1	P	0.36616	0.561	B	0.37304	0.246	T	0.29274	-1.0017	10	0.51188	T	0.08	-1.4911	7.0003	0.24805	0.0:0.6962:0.1443:0.1595	.	297	Q9Y4A8	NF2L3_HUMAN	Y	297;3	ENSP00000056233:S297Y	ENSP00000056233:S297Y	S	+	2	0	NFE2L3	26190733	0.000000	0.05858	0.066000	0.19879	0.792000	0.44763	0.055000	0.14229	0.470000	0.27294	0.467000	0.42956	TCT		PASS	0.403	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			18	166	18	166	---	---	---	---
PLEKHA8	84725	broad.mit.edu	37	7	30101578	30101578	+	Silent	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr7:30101578C>T	ENST00000449726.1	+	11	1514	c.1164C>T	c.(1162-1164)caC>caT	p.H388H	PLEKHA8_ENST00000396257.2_Silent_p.H388H|PLEKHA8_ENST00000396259.1_Silent_p.H388H|PLEKHA8_ENST00000258679.7_Silent_p.H388H	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	388	Glycolipid transfer protein homology domain.				ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)	p.H388H(2)		breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TAGTGCTGCACGAAGTGGAGG	0.473											OREG0017934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003tam.1																			2	Substitution - coding silent(2)		lung(2)	breast(3)|ovary(1)	4						c.(1162-1164)CAC>CAT		pleckstrin homology domain containing, family A							64.0	60.0	61.0					7																	30101578		2203	4297	6500	SO:0001819	synonymous_variant	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30101578C>T	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.1164C>T	7.37:g.30101578C>T			OREG0017934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	814	PLEKHA8_uc003tao.2_Silent_p.H272H|PLEKHA8_uc003tap.1_Silent_p.H388H|PLEKHA8_uc003tan.2_Silent_p.H388H	p.H388H	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN			11	1255	+			388					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Silent	SNP	ENST00000449726.1	37	c.1164C>T	CCDS56473.1																																																																																				PASS	0.473	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		19	30	19	30	---	---	---	---
INMT	11185	broad.mit.edu	37	7	30793447	30793447	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr7:30793447C>A	ENST00000013222.5	+	2	271	c.255C>A	c.(253-255)gaC>gaA	p.D85E	INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Missense_Mutation_p.D84E|INMT_ENST00000409539.1_Missense_Mutation_p.D84E	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	85	S-adenosyl-L-methionine binding.				amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)	p.D85E(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CTCTCTCCGACTTTACCGACC	0.567																																						uc003tbs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(253-255)GAC>GAA		indolethylamine N-methyltransferase							194.0	185.0	188.0					7																	30793447		2203	4300	6503	SO:0001583	missense	11185					cytoplasm	amine N-methyltransferase activity	g.chr7:30793447C>A		CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.255C>A	7.37:g.30793447C>A	ENSP00000013222:p.Asp85Glu					FAM188B_uc010kwe.2_5'UTR|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Missense_Mutation_p.D84E	p.D85E	NM_006774	NP_006765	O95050	INMT_HUMAN			2	271	+			85			S-adenosyl-L-methionine binding.		B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Missense_Mutation	SNP	ENST00000013222.5	37	c.255C>A	CCDS5430.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894323	0.33442	.	.	ENSG00000241644	ENST00000013222;ENST00000409539	T;T	0.27402	1.67;1.67	4.07	2.23	0.28157	.	0.081704	0.44097	D	0.000485	T	0.34600	0.0903	L	0.54908	1.71	0.36434	D	0.865063	D;D	0.63880	0.993;0.993	P;P	0.58577	0.841;0.841	T	0.40942	-0.9536	10	0.18276	T	0.48	-20.184	3.7697	0.08636	0.0:0.5762:0.2258:0.198	.	84;85	B8ZZ69;O95050	.;INMT_HUMAN	E	85;84	ENSP00000013222:D85E;ENSP00000386961:D84E	ENSP00000013222:D85E	D	+	3	2	INMT	30759972	0.748000	0.28294	0.022000	0.16811	0.049000	0.14656	-0.052000	0.11865	1.035000	0.39972	0.655000	0.94253	GAC		PASS	0.567	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	NM_006774		105	172	105	172	---	---	---	---
BBS9	27241	broad.mit.edu	37	7	33407434	33407434	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr7:33407434A>T	ENST00000242067.6	+	17	2270	c.1749A>T	c.(1747-1749)ttA>ttT	p.L583F	BBS9_ENST00000355070.2_Missense_Mutation_p.L578F|BBS9_ENST00000354265.4_Missense_Mutation_p.L548F|BBS9_ENST00000350941.3_Missense_Mutation_p.L543F|BBS9_ENST00000396127.2_Missense_Mutation_p.L548F	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	583					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.L583F(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTCACTTCTTAGGAGGTGCTC	0.363									Bardet-Biedl syndrome																													uc003tdn.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1747-1749)TTA>TTT		parathyroid hormone-responsive B1 isoform 2							221.0	203.0	209.0					7																	33407434		2203	4300	6503	SO:0001583	missense	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33407434A>T		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1749A>T	7.37:g.33407434A>T	ENSP00000242067:p.Leu583Phe					BBS9_uc003tdo.1_Missense_Mutation_p.L548F|BBS9_uc003tdp.1_Missense_Mutation_p.L578F|BBS9_uc003tdq.1_Missense_Mutation_p.L543F|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.L107F|BBS9_uc003tds.1_Missense_Mutation_p.L6F|BBS9_uc011kao.1_Missense_Mutation_p.L461F	p.L583F	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		17	2262	+			583					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.1749A>T	CCDS43566.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.82|12.82	2.051106|2.051106	0.36181|0.36181	.|.	.|.	ENSG00000122507|ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132|ENST00000434373	T;T;T;T;T|.	0.14266|.	2.52;2.52;2.52;2.52;2.52|.	5.48|5.48	1.79|1.79	0.24919|0.24919	.|.	0.165379|.	0.38492|.	N|.	0.001664|.	T|T	0.57095|0.57095	0.2030|0.2030	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.28055|.	0.199;0.199;0.199;0.199;0.199|.	B;B;B;B;B|.	0.35114|.	0.177;0.177;0.177;0.177;0.196|.	T|T	0.49244|0.49244	-0.8960|-0.8960	10|5	0.15952|.	T|.	0.53|.	-10.3722|-10.3722	4.6229|4.6229	0.12463|0.12463	0.6534:0.0:0.2171:0.1295|0.6534:0.0:0.2171:0.1295	.|.	583;543;578;548;583|.	Q3SYG4-3;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4|.	.;.;.;.;PTHB1_HUMAN|.	F|W	583;543;548;578;548;583|150	ENSP00000242067:L583F;ENSP00000313122:L543F;ENSP00000379433:L548F;ENSP00000347182:L578F;ENSP00000346214:L548F|.	ENSP00000242067:L583F|.	L|R	+|+	3|1	2|2	BBS9|BBS9	33373959|33373959	0.993000|0.993000	0.37304|0.37304	0.996000|0.996000	0.52242|0.52242	0.883000|0.883000	0.51084|0.51084	0.508000|0.508000	0.22692|0.22692	0.066000|0.066000	0.16515|0.16515	-0.256000|-0.256000	0.11100|0.11100	TTA|AGG		PASS	0.363	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			22	111	22	111	---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45725649	45725649	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr7:45725649C>A	ENST00000297323.7	+	13	2184	c.2162C>A	c.(2161-2163)aCc>aAc	p.T721N		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	721					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.T721N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCCCTGCCCACCCTGCCCTGC	0.637																																						uc003tne.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(2161-2163)ACC>AAC		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						60.0	46.0	51.0					7																	45725649		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45725649C>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2162C>A	7.37:g.45725649C>A	ENSP00000297323:p.Thr721Asn						p.T721N	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			13	2180	+			721					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.2162C>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	C	7.886	0.731329	0.15507	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.79454	-1.27	3.8	0.575	0.17374	.	0.670425	0.13973	N	0.350043	T	0.45034	0.1322	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.23190	-1.0195	10	0.13108	T	0.6	.	0.5065	0.00588	0.2014:0.3541:0.1963:0.2481	.	721	Q08828	ADCY1_HUMAN	N	721	ENSP00000297323:T721N	ENSP00000297323:T721N	T	+	2	0	ADCY1	45692174	0.929000	0.31497	0.026000	0.17262	0.965000	0.64279	1.771000	0.38542	0.258000	0.21686	0.462000	0.41574	ACC		PASS	0.637	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		17	34	17	34	---	---	---	---
UPP1	7378	broad.mit.edu	37	7	48146663	48146663	+	Silent	SNP	C	C	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr7:48146663C>G	ENST00000331803.4	+	8	1253	c.630C>G	c.(628-630)acC>acG	p.T210T	UPP1_ENST00000395564.4_Silent_p.T210T|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Silent_p.T210T|UPP1_ENST00000429491.2_Silent_p.T73T			Q16831	UPP1_HUMAN	uridine phosphorylase 1	210					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)	p.T210T(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	CCATGTGCACCTTGGACTTCT	0.577																																						uc003toj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(628-630)ACC>ACG		uridine phosphorylase 1							106.0	95.0	99.0					7																	48146663		2203	4300	6503	SO:0001819	synonymous_variant	7378				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	g.chr7:48146663C>G	AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"""uridine phosphorylase"""	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.630C>G	7.37:g.48146663C>G						UPP1_uc003tok.2_Silent_p.T210T|UPP1_uc003tol.2_Silent_p.T210T|UPP1_uc011kch.1_Silent_p.T3T|UPP1_uc003ton.2_Silent_p.T73T|UPP1_uc003too.2_Silent_p.T73T	p.T210T	NM_181597	NP_853628	Q16831	UPP1_HUMAN			8	1159	+			210					D3DVM4|Q15362	Silent	SNP	ENST00000331803.4	37	c.630C>G	CCDS5507.1																																																																																				PASS	0.577	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		26	42	26	42	---	---	---	---
GRB10	2887	broad.mit.edu	37	7	50680468	50680468	+	Silent	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr7:50680468C>A	ENST00000401949.1	-	13	1633	c.1164G>T	c.(1162-1164)acG>acT	p.T388T	GRB10_ENST00000335866.3_Silent_p.T330T|GRB10_ENST00000403097.1_Silent_p.T382T|GRB10_ENST00000398812.2_Silent_p.T388T|GRB10_ENST00000398810.2_Silent_p.T330T|GRB10_ENST00000406641.1_Silent_p.T330T|GRB10_ENST00000402578.1_Silent_p.T330T|GRB10_ENST00000439599.1_Silent_p.T382T|GRB10_ENST00000407526.1_Silent_p.T330T|GRB10_ENST00000402497.1_Silent_p.T330T|GRB10_ENST00000357271.5_Silent_p.T342T			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	388	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)	p.T388T(2)|p.T382T(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TCATCCAGCACGTCCTGGTTT	0.473									Russell-Silver syndrome																													uc003tpi.2																			4	Substitution - coding silent(4)		lung(4)	lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1162-1164)ACG>ACT		growth factor receptor-bound protein 10 isoform							111.0	118.0	116.0					7																	50680468		2170	4260	6430	SO:0001819	synonymous_variant	2887	Russell-Silver_syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50680468C>A		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1164G>T	7.37:g.50680468C>A						GRB10_uc003tph.3_Silent_p.T330T|GRB10_uc003tpj.2_Silent_p.T342T|GRB10_uc003tpk.2_Silent_p.T388T|GRB10_uc010kzb.2_Silent_p.T330T|GRB10_uc003tpl.2_Silent_p.T382T|GRB10_uc003tpm.2_Silent_p.T330T|GRB10_uc003tpn.2_Silent_p.T330T	p.T388T	NM_005311	NP_005302	Q13322	GRB10_HUMAN			10	1195	-	Glioma(55;0.08)|all_neural(89;0.245)		388			PH.		A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Silent	SNP	ENST00000401949.1	37	c.1164G>T	CCDS43582.1																																																																																				PASS	0.473	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			8	35	8	35	---	---	---	---
HIP1	3092	broad.mit.edu	37	7	75228545	75228545	+	Silent	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr7:75228545G>A	ENST00000336926.6	-	2	167	c.141C>T	c.(139-141)gcC>gcT	p.A47A	HIP1_ENST00000434438.2_Silent_p.A47A	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	47	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)	p.A47A(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCGTATTAATGGCCTTATTGA	0.502			T	PDGFRB	CMML																																	uc003uds.1				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		1	Substitution - coding silent(1)		lung(1)	lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						c.(139-141)GCC>GCT		huntingtin interacting protein 1							138.0	142.0	140.0					7																	75228545		2203	4300	6503	SO:0001819	synonymous_variant	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75228545G>A	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.141C>T	7.37:g.75228545G>A							p.A47A	NM_005338	NP_005329	O00291	HIP1_HUMAN			2	182	-			47			ENTH.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Silent	SNP	ENST00000336926.6	37	c.141C>T	CCDS34669.1																																																																																				PASS	0.502	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		29	142	29	142	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100364844	100364844	+	RNA	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr7:100364844C>A	ENST00000348028.3	+	0	4989				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D1608E(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CAGTCTTTGACCTCAGCATCT	0.577																																						uc003uwj.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(4822-4824)GAC>GAA		zonadhesin isoform 3							50.0	51.0	51.0					7																	100364844		2120	4229	6349			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100364844C>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100364844C>A						ZAN_uc003uwk.2_Missense_Mutation_p.D1608E|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Missense_Mutation_p.D185E	p.D1608E	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		25	4989	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1608			Extracellular (Potential).|VWFD 2.		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.4824C>A		.	.	.	.	.	.	.	.	.	.	C	9.038	0.988906	0.18966	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	4.63	0.483	0.16820	von Willebrand factor, type D domain (3);	1.239200	0.05777	N	0.607944	T	0.44350	0.1289	L	0.38733	1.17	0.09310	N	1	P;P	0.39576	0.628;0.679	B;B	0.38755	0.184;0.281	T	0.34054	-0.9844	10	0.49607	T	0.09	.	1.8713	0.03209	0.1628:0.4917:0.1583:0.1872	.	1608;1608	F5H0T8;Q9Y493	.;ZAN_HUMAN	E	1608;1608;1608;185	ENSP00000445943:D1608E;ENSP00000445091:D1608E;ENSP00000444427:D1608E;ENSP00000441117:D185E	ENSP00000423579:D1608E	D	+	3	2	ZAN	100202780	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.145000	0.03194	-0.028000	0.13850	-0.258000	0.10820	GAC		PASS	0.577	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		9	45	9	45	---	---	---	---
ATXN7L1	222255	broad.mit.edu	37	7	105516902	105516902	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr7:105516902T>C	ENST00000419735.3	-	1	148	c.103A>G	c.(103-105)Aaa>Gaa	p.K35E	ATXN7L1_ENST00000318724.4_Missense_Mutation_p.K35E|ATXN7L1_ENST00000478915.1_Missense_Mutation_p.K7E	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	35								p.K35E(2)		endometrium(1)|large_intestine(4)|lung(5)	10						CTGGGCACTTTGCGATCCAGT	0.582																																						uc003vde.2																			2	Substitution - Missense(2)		lung(2)		0						c.(103-105)AAA>GAA		ataxin 7-like 1 isoform 1							116.0	105.0	109.0					7																	105516902		2203	4300	6503	SO:0001583	missense	222255							g.chr7:105516902T>C	AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"""ataxin 7-like 4"""	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.103A>G	7.37:g.105516902T>C	ENSP00000410759:p.Lys35Glu					ATXN7L1_uc003vdi.2_Missense_Mutation_p.K35E|CDHR3_uc003vdk.2_5'Flank|uc003vdj.1_5'Flank	p.K35E	NM_020725	NP_065776	Q9ULK2	AT7L1_HUMAN			1	130	-			35					A4D0Q2|B4DTS1|Q8N2T0	Missense_Mutation	SNP	ENST00000419735.3	37	c.103A>G	CCDS47682.1	.	.	.	.	.	.	.	.	.	.	T	17.09	3.301251	0.60195	.	.	ENSG00000146776	ENST00000419735;ENST00000318724;ENST00000478915	T;T	0.31247	1.5;1.5	5.04	3.86	0.44501	.	0.098256	0.39083	N	0.001473	T	0.28001	0.0690	L	0.44542	1.39	0.80722	D	1	B;B	0.26002	0.103;0.139	B;B	0.28011	0.085;0.04	T	0.06338	-1.0832	10	0.56958	D	0.05	.	11.924	0.52808	0.0:0.0:0.3461:0.6539	.	35;35	A4D0Q2;Q9ULK2	.;AT7L1_HUMAN	E	35;35;7	ENSP00000410759:K35E;ENSP00000326344:K35E	ENSP00000326344:K35E	K	-	1	0	ATXN7L1	105304138	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.595000	0.54016	0.833000	0.34828	0.454000	0.30748	AAA		PASS	0.582	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349037.2			5	29	5	29	---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106508148	106508148	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr7:106508148C>A	ENST00000359195.3	+	2	452	c.142C>A	c.(142-144)Cag>Aag	p.Q48K	PIK3CG_ENST00000440650.2_Missense_Mutation_p.Q48K|PIK3CG_ENST00000496166.1_Missense_Mutation_p.Q48K	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	48	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q48K(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GCCCACCAGCCAGCGCAAATG	0.672																																						uc003vdv.3																			1	Substitution - Missense(1)		lung(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(142-144)CAG>AAG		phosphoinositide-3-kinase, catalytic, gamma							33.0	38.0	36.0					7																	106508148		2202	4299	6501	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508148C>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.142C>A	7.37:g.106508148C>A	ENSP00000352121:p.Gln48Lys					PIK3CG_uc003vdu.2_Missense_Mutation_p.Q48K|PIK3CG_uc003vdw.2_Missense_Mutation_p.Q48K	p.Q48K	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	227	+			48					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.142C>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	7.935	0.741535	0.15642	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.68624	-0.34;-0.34;-0.34	5.64	5.64	0.86602	.	0.768390	0.12975	N	0.423796	T	0.54367	0.1854	L	0.29908	0.895	0.28389	N	0.919155	B	0.17038	0.02	B	0.16722	0.016	T	0.38908	-0.9639	10	0.16896	T	0.51	-26.7719	13.0765	0.59089	0.2632:0.7368:0.0:0.0	.	48	P48736	PK3CG_HUMAN	K	48	ENSP00000392258:Q48K;ENSP00000419260:Q48K;ENSP00000352121:Q48K	ENSP00000352121:Q48K	Q	+	1	0	PIK3CG	106295384	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.021000	0.49651	2.816000	0.96949	0.563000	0.77884	CAG		PASS	0.672	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			8	53	8	53	---	---	---	---
FAM3C	10447	broad.mit.edu	37	7	121004196	121004196	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr7:121004196C>A	ENST00000359943.3	-	6	532	c.319G>T	c.(319-321)Gcc>Tcc	p.A107S		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	107					multicellular organismal development (GO:0007275)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	cytokine activity (GO:0005125)	p.A107S(1)		kidney(1)|lung(8)	9	all_neural(327;0.117)					TTTGCCAAGGCAACATTGATC	0.318																																						uc003vjx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(319-321)GCC>TCC		family with sequence similarity 3, member C							94.0	84.0	87.0					7																	121004196		2203	4300	6503	SO:0001583	missense	10447				multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity	g.chr7:121004196C>A	D87120	CCDS5782.1	7q22.1-q31.1	2014-08-14			ENSG00000196937	ENSG00000196937			18664	protein-coding gene	gene with protein product	"""predicted osteoblast protein"", ""interleukin-like EMT inducer"", ""interleukin-like epithelial-mesenchymal transition inducer"""	608618				12160727	Standard	NM_014888		Approved	GS3876, ILEI	uc010lkm.3	Q92520	OTTHUMG00000156979	ENST00000359943.3:c.319G>T	7.37:g.121004196C>A	ENSP00000353025:p.Ala107Ser					FAM3C_uc010lkm.2_Missense_Mutation_p.A107S	p.A107S	NM_014888	NP_055703	Q92520	FAM3C_HUMAN			6	567	-	all_neural(327;0.117)		107					A6NDN2|A8K3R7	Missense_Mutation	SNP	ENST00000359943.3	37	c.319G>T	CCDS5782.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735736	0.89482	.	.	ENSG00000196937	ENST00000359943;ENST00000412653;ENST00000426156	T;T;T	0.24538	1.85;1.85;1.85	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.60261	0.2255	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68557	-0.5377	10	0.87932	D	0	-14.5815	19.0276	0.92939	0.0:1.0:0.0:0.0	.	107	Q92520	FAM3C_HUMAN	S	107;107;77	ENSP00000353025:A107S;ENSP00000408636:A107S;ENSP00000414940:A77S	ENSP00000353025:A107S	A	-	1	0	FAM3C	120791432	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.184000	0.77705	2.475000	0.83589	0.467000	0.42956	GCC		PASS	0.318	FAM3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346945.1	NM_001040020		6	48	6	48	---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121651116	121651116	+	Silent	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr7:121651116C>T	ENST00000393386.2	+	12	2427	c.2016C>T	c.(2014-2016)agC>agT	p.S672S	PTPRZ1_ENST00000449182.1_Silent_p.S672S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	672					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S672S(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GCAGAGAGAGCTTTCTCCAGA	0.463																																						uc003vjy.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(2014-2016)AGC>AGT		protein tyrosine phosphatase, receptor-type,							77.0	66.0	70.0					7																	121651116		2203	4300	6503	SO:0001819	synonymous_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121651116C>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2016C>T	7.37:g.121651116C>T						PTPRZ1_uc003vjz.2_Silent_p.S672S|PTPRZ1_uc011knt.1_Silent_p.S122S	p.S672S	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			12	2411	+			672			Extracellular (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	c.2016C>T	CCDS34740.1																																																																																				PASS	0.463	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		13	64	13	64	---	---	---	---
IQUB	154865	broad.mit.edu	37	7	123152383	123152383	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr7:123152383T>A	ENST00000466202.1	-	2	588	c.12A>T	c.(10-12)caA>caT	p.Q4H	IQUB_ENST00000324698.6_Missense_Mutation_p.Q4H|IQUB_ENST00000434450.1_Missense_Mutation_p.Q4H|IQUB_ENST00000488987.1_Intron	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	4				Q -> R (in Ref. 1; BAC04074). {ECO:0000305}.	cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.Q4H(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ACTTCTCCTGTTGATTAGACA	0.328																																						uc003vkn.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(10-12)CAA>CAT		IQ motif and ubiquitin domain containing							62.0	62.0	62.0					7																	123152383		2203	4300	6503	SO:0001583	missense	154865							g.chr7:123152383T>A	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.12A>T	7.37:g.123152383T>A	ENSP00000417769:p.Gln4His					IQUB_uc003vko.2_Missense_Mutation_p.Q4H|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Missense_Mutation_p.Q4H|IQUB_uc003vkq.2_Missense_Mutation_p.Q4H	p.Q4H	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN			2	589	-			4	Q -> R (in Ref. 1; BAC04074).				A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	c.12A>T	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.230579	0.39399	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.52057	1.73;1.73;0.68	4.7	-6.1	0.02138	.	1.588500	0.04187	N	0.327597	T	0.44456	0.1294	N	0.24115	0.695	0.09310	N	1	D;P;P	0.69078	0.997;0.899;0.838	P;P;B	0.55667	0.781;0.639;0.436	T	0.54931	-0.8219	10	0.62326	D	0.03	.	9.3973	0.38410	0.0:0.2235:0.1127:0.6638	.	4;4;4	A1A4Z1;Q8NA54-2;Q8NA54	.;.;IQUB_HUMAN	H	4	ENSP00000417769:Q4H;ENSP00000324882:Q4H;ENSP00000388498:Q4H	ENSP00000324882:Q4H	Q	-	3	2	IQUB	122939619	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.116000	0.03286	-1.383000	0.02106	-1.059000	0.02297	CAA		PASS	0.328	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		6	39	6	39	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126173479	126173479	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr7:126173479C>G	ENST00000339582.2	-	9	2765	c.1957G>C	c.(1957-1959)Gtc>Ctc	p.V653L	GRM8_ENST00000444921.2_Missense_Mutation_p.V653L|GRM8_ENST00000358373.3_Missense_Mutation_p.V653L|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	653					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.V653L(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CCTAGGAAGACCCGTCGGAAG	0.448										HNSCC(24;0.065)																												uc003vlr.2																			1	Substitution - Missense(1)		lung(1)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1957-1959)GTC>CTC		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						89.0	87.0	88.0					7																	126173479		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173479C>G		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1957G>C	7.37:g.126173479C>G	ENSP00000344173:p.Val653Leu	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.V653L|GRM8_uc010lkz.1_RNA	p.V653L	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	2268	-		Prostate(267;0.186)	653			Helical; Name=3; (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1957G>C	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	T	1.945	-0.442604	0.04604	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.88124	-2.34;-2.34;-2.34	5.75	4.6	0.57074	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.68174	0.2972	N	0.04320	-0.23	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.15870	0.005;0.014	T	0.59134	-0.7511	10	0.02654	T	1	.	9.695	0.40152	0.0:0.1404:0.0:0.8596	.	653;653	O00222-2;O00222	.;GRM8_HUMAN	L	653	ENSP00000344173:V653L;ENSP00000409790:V653L;ENSP00000351142:V653L	ENSP00000344173:V653L	V	-	1	0	GRM8	125960715	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	3.564000	0.53791	0.458000	0.26988	-0.254000	0.11334	GTC		PASS	0.448	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			37	65	37	65	---	---	---	---
EXOC4	60412	broad.mit.edu	37	7	133059665	133059665	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr7:133059665A>T	ENST00000253861.4	+	7	1120	c.1091A>T	c.(1090-1092)cAg>cTg	p.Q364L	EXOC4_ENST00000539845.1_Missense_Mutation_p.Q263L|EXOC4_ENST00000393161.2_Missense_Mutation_p.Q364L	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	364					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)	p.Q364L(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GGATACCTGCAGGACACTGTA	0.458																																						uc003vrk.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9						c.(1090-1092)CAG>CTG		SEC8 protein isoform a							138.0	125.0	129.0					7																	133059665		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133059665A>T	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1091A>T	7.37:g.133059665A>T	ENSP00000253861:p.Gln364Leu					EXOC4_uc011kpo.1_Missense_Mutation_p.Q263L|EXOC4_uc003vri.2_Missense_Mutation_p.Q364L|EXOC4_uc003vrj.2_Missense_Mutation_p.Q364L	p.Q364L	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN			7	1126	+		Esophageal squamous(399;0.129)	364					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.1091A>T	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	A	18.18	3.567333	0.65651	.	.	ENSG00000131558	ENST00000253861;ENST00000393161;ENST00000539845	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.52901	0.1763	L	0.47716	1.5	0.80722	D	1	P;P	0.43094	0.454;0.799	B;B	0.40228	0.081;0.323	T	0.51513	-0.8696	9	0.30854	T	0.27	.	16.2338	0.82360	1.0:0.0:0.0:0.0	.	364;364	Q96A65;Q8TAR2	EXOC4_HUMAN;.	L	364;364;263	.	ENSP00000253861:Q364L	Q	+	2	0	EXOC4	132710205	1.000000	0.71417	0.995000	0.50966	0.665000	0.39181	8.654000	0.91092	2.313000	0.78055	0.455000	0.32223	CAG		PASS	0.458	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		10	71	10	71	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151884527	151884527	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr7:151884527C>G	ENST00000262189.6	-	33	5046	c.4828G>C	c.(4828-4830)Gat>Cat	p.D1610H	KMT2C_ENST00000355193.2_Missense_Mutation_p.D1610H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1610					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.D1610H(2)									TTGTTAGGATCACTTGCCATT	0.363																																						uc003wla.2										N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(4828-4830)GAT>CAT		myeloid/lymphoid or mixed-lineage leukemia 3							160.0	163.0	162.0					7																	151884527		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151884527C>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4828G>C	7.37:g.151884527C>G	ENSP00000262189:p.Asp1610His					MLL3_uc003wkz.2_Missense_Mutation_p.D671H	p.D1610H	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	33	5047	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1610					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.4828G>C	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004923	0.54254	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84944	-1.91;-1.92	5.47	4.59	0.56863	.	0.000000	0.44688	U	0.000425	D	0.90338	0.6977	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	0.991;1.0	P;D	0.76071	0.818;0.987	D	0.91201	0.4991	10	0.72032	D	0.01	.	14.4399	0.67309	0.0:0.9287:0.0:0.0713	.	1610;671	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	H	1610	ENSP00000262189:D1610H;ENSP00000347325:D1610H	ENSP00000262189:D1610H	D	-	1	0	MLL3	151515460	1.000000	0.71417	0.507000	0.27676	0.878000	0.50629	5.140000	0.64807	1.425000	0.47237	0.579000	0.79373	GAT		PASS	0.363	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			104	200	104	200	---	---	---	---
ST18	9705	broad.mit.edu	37	8	53084559	53084559	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr8:53084559C>G	ENST00000276480.7	-	10	1545	c.862G>C	c.(862-864)Gta>Cta	p.V288L		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	288					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V288L(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCCGTCATTACTGCCAGGCTC	0.537																																						uc003xqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(862-864)GTA>CTA		suppression of tumorigenicity 18							93.0	88.0	90.0					8																	53084559		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53084559C>G	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.862G>C	8.37:g.53084559C>G	ENSP00000276480:p.Val288Leu					ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.V253L|ST18_uc011lds.1_Missense_Mutation_p.V193L|ST18_uc003xra.2_Missense_Mutation_p.V288L|ST18_uc003xrb.2_Missense_Mutation_p.V288L	p.V288L	NM_014682	NP_055497	O60284	ST18_HUMAN			5	1018	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	288					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.862G>C	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	3.171	-0.169951	0.06461	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.44482	0.93;0.92	5.72	-0.332	0.12675	.	0.926307	0.09286	N	0.822984	T	0.27419	0.0673	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24584	-1.0156	10	0.23891	T	0.37	-0.3356	10.809	0.46535	0.0:0.5827:0.0:0.4173	.	288	O60284	ST18_HUMAN	L	288	ENSP00000276480:V288L;ENSP00000428521:V288L	ENSP00000276480:V288L	V	-	1	0	ST18	53247112	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.618000	0.24373	0.013000	0.14918	-0.768000	0.03414	GTA		PASS	0.537	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			54	57	54	57	---	---	---	---
RB1CC1	9821	broad.mit.edu	37	8	53570240	53570240	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr8:53570240C>T	ENST00000025008.5	-	15	2672	c.2149G>A	c.(2149-2151)Gtt>Att	p.V717I	RB1CC1_ENST00000435644.2_Missense_Mutation_p.V717I|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.V717I	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	717					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.V717I(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TCTAAAGAAACTTGGTGAATA	0.348																																					GBM(180;1701 2102 13475 42023 52570)	uc003xre.3																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11						c.(2149-2151)GTT>ATT		Rb1-inducible coiled coil protein 1 isoform 1							81.0	84.0	83.0					8																	53570240		2203	4300	6503	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53570240C>T	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.2149G>A	8.37:g.53570240C>T	ENSP00000025008:p.Val717Ile					RB1CC1_uc003xrf.3_Missense_Mutation_p.V717I	p.V717I	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN			15	2707	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	717					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.2149G>A	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917562	0.52546	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.14022	2.54;2.54;2.54	5.35	5.35	0.76521	.	0.456371	0.23710	N	0.045327	T	0.09730	0.0239	N	0.08118	0	0.28660	N	0.906205	B;B	0.19817	0.039;0.023	B;B	0.18871	0.023;0.01	T	0.16453	-1.0402	10	0.41790	T	0.15	-2.2445	19.4123	0.94679	0.0:1.0:0.0:0.0	.	717;717	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	I	717	ENSP00000025008:V717I;ENSP00000396067:V717I;ENSP00000445960:V717I	ENSP00000025008:V717I	V	-	1	0	RB1CC1	53732793	1.000000	0.71417	0.751000	0.31187	0.998000	0.95712	7.407000	0.80029	2.649000	0.89929	0.655000	0.94253	GTT		PASS	0.348	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		54	36	54	36	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68934375	68934375	+	Splice_Site	SNP	G	G	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr8:68934375G>C	ENST00000288368.4	+	4	718	c.441G>C	c.(439-441)ttG>ttC	p.L147F	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	147	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.L147F(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CATTTCTTTTGGTAAGTGTAT	0.338																																						uc003xxv.1																			2	Substitution - Missense(2)		lung(2)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(439-441)TTG>TTC		DEP domain containing 2 isoform a							99.0	94.0	95.0					8																	68934375		2202	4300	6502	SO:0001630	splice_region_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68934375G>C	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.441+1G>C	8.37:g.68934375G>C						PREX2_uc003xxu.1_Missense_Mutation_p.L147F|PREX2_uc011lez.1_Missense_Mutation_p.L82F	p.L147F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			4	468	+			147			DH.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.441G>C	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252151	0.80135	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.68331	-0.32	6.04	6.04	0.98038	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000003	D	0.83059	0.5172	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.999;0.998	T	0.82709	-0.0323	10	0.62326	D	0.03	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	147;147;147	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	F	147	ENSP00000288368:L147F	ENSP00000288368:L147F	L	+	3	2	PREX2	69096929	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	7.513000	0.81739	2.873000	0.98535	0.563000	0.77884	TTG		PASS	0.338	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	Missense_Mutation	24	30	24	30	---	---	---	---
DCAF4L2	138009	broad.mit.edu	37	8	88885462	88885462	+	Silent	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr8:88885462C>A	ENST00000319675.3	-	1	834	c.738G>T	c.(736-738)ggG>ggT	p.G246G		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	246								p.G246G(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CAAAGATCTCCCCAGAGCGAC	0.522																																						uc003ydz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(736-738)GGG>GGT		WD repeat domain 21C							122.0	117.0	118.0					8																	88885462		2203	4300	6503	SO:0001819	synonymous_variant	138009							g.chr8:88885462C>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.738G>T	8.37:g.88885462C>A							p.G246G	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	835	-			246						Silent	SNP	ENST00000319675.3	37	c.738G>T	CCDS6245.1																																																																																				PASS	0.522	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		65	48	65	48	---	---	---	---
RIPK2	8767	broad.mit.edu	37	8	90798854	90798854	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr8:90798854A>G	ENST00000220751.4	+	9	1377	c.1063A>G	c.(1063-1065)Agt>Ggt	p.S355G	RIPK2_ENST00000540020.1_Missense_Mutation_p.S218G	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	355					activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.S355G(1)		kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			CCATGAAAATAGTGGTTCTCC	0.318																																						uc003yee.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1063-1065)AGT>GGT		receptor-interacting serine-threonine kinase 2							111.0	113.0	112.0					8																	90798854		2203	4300	6503	SO:0001583	missense	8767				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity	g.chr8:90798854A>G	AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.1063A>G	8.37:g.90798854A>G	ENSP00000220751:p.Ser355Gly					RIPK2_uc003yef.2_Missense_Mutation_p.S218G	p.S355G	NM_003821	NP_003812	O43353	RIPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0474)		9	1377	+			355					B7Z748|Q6UWF0	Missense_Mutation	SNP	ENST00000220751.4	37	c.1063A>G	CCDS6247.1	.	.	.	.	.	.	.	.	.	.	A	7.583	0.669104	0.14776	.	.	ENSG00000104312	ENST00000220751;ENST00000540020	T;T	0.81330	-1.25;-1.48	5.51	-3.23	0.05109	.	1.079390	0.07240	N	0.864136	T	0.62974	0.2472	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42882	-0.9425	10	0.37606	T	0.19	-0.2885	1.8514	0.03169	0.3716:0.1431:0.3466:0.1387	.	355	O43353	RIPK2_HUMAN	G	355;218	ENSP00000220751:S355G;ENSP00000441623:S218G	ENSP00000220751:S355G	S	+	1	0	RIPK2	90867995	0.000000	0.05858	0.000000	0.03702	0.347000	0.29111	0.010000	0.13242	-0.716000	0.04962	-0.503000	0.04515	AGT		PASS	0.318	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1			11	140	11	140	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100454784	100454784	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr8:100454784G>C	ENST00000358544.2	+	23	3477	c.3366G>C	c.(3364-3366)aaG>aaC	p.K1122N	VPS13B_ENST00000395996.1_Missense_Mutation_p.K1122N|VPS13B_ENST00000357162.2_Missense_Mutation_p.K1122N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1122					protein transport (GO:0015031)			p.K1122N(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTCAAATAAAGATTATTAGTG	0.418																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(3364-3366)AAG>AAC		vacuolar protein sorting 13B isoform 5							110.0	104.0	106.0					8																	100454784		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100454784G>C	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3366G>C	8.37:g.100454784G>C	ENSP00000351346:p.Lys1122Asn					VPS13B_uc003yiw.2_Missense_Mutation_p.K1122N|VPS13B_uc003yiu.1_Missense_Mutation_p.K1122N|VPS13B_uc003yix.1_Missense_Mutation_p.K592N	p.K1122N	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		23	3477	+	Breast(36;3.73e-07)		1122					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.3366G>C	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.749449	0.49257	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.34275	1.37;1.37;1.37	5.71	2.94	0.34122	.	0.229171	0.43416	D	0.000577	T	0.43964	0.1271	L	0.40543	1.245	0.37870	D	0.930049	D;D;B;P	0.69078	0.997;0.98;0.013;0.897	D;P;B;P	0.64321	0.924;0.795;0.003;0.645	T	0.31447	-0.9943	10	0.33141	T	0.24	.	10.2445	0.43332	0.2627:0.0:0.7373:0.0	.	1121;1122;1122;1122	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	N	1122	ENSP00000349685:K1122N;ENSP00000351346:K1122N;ENSP00000379318:K1122N	ENSP00000349685:K1122N	K	+	3	2	VPS13B	100523960	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	1.040000	0.30278	0.339000	0.23719	-0.218000	0.12543	AAG		PASS	0.418	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		55	49	55	49	---	---	---	---
GRHL2	79977	broad.mit.edu	37	8	102656426	102656426	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr8:102656426C>G	ENST00000251808.3	+	13	1923	c.1585C>G	c.(1585-1587)Cag>Gag	p.Q529E	GRHL2_ENST00000395927.1_Missense_Mutation_p.Q513E|GRHL2_ENST00000517674.1_3'UTR	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	529					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q529E(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GCCTTCAAAGCAGATGAAAGA	0.502																																						uc010mbu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1585-1587)CAG>GAG		transcription factor CP2-like 3							121.0	108.0	113.0					8																	102656426		2203	4300	6503	SO:0001583	missense	79977					cytoplasm|nucleus	DNA binding	g.chr8:102656426C>G	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.1585C>G	8.37:g.102656426C>G	ENSP00000251808:p.Gln529Glu						p.Q529E	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		13	1915	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		529					A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	c.1585C>G	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377677	0.61735	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.11930	2.73;2.73	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.16769	0.0403	M	0.68593	2.085	0.58432	D	0.999994	B	0.19935	0.04	B	0.23275	0.045	T	0.09487	-1.0672	10	0.06365	T	0.9	-26.1989	16.9389	0.86210	0.0:1.0:0.0:0.0	.	529	Q6ISB3	GRHL2_HUMAN	E	529;513;529	ENSP00000251808:Q529E;ENSP00000379260:Q513E	ENSP00000251808:Q529E	Q	+	1	0	GRHL2	102725602	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.856000	0.69518	2.732000	0.93576	0.650000	0.86243	CAG		PASS	0.502	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		3	47	3	47	---	---	---	---
EIF3E	3646	broad.mit.edu	37	8	109241415	109241415	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr8:109241415T>C	ENST00000220849.5	-	6	543	c.481A>G	c.(481-483)Aca>Gca	p.T161A	EIF3E_ENST00000519030.1_Missense_Mutation_p.T68A|RP11-35G22.1_ENST00000520037.1_RNA|EIF3E_ENST00000519517.1_5'UTR	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E									p.T161A(1)	EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			TTTCTATCTGTTGCTGGAACC	0.363																																					GBM(15;360 410 8460 34179 52246)	uc003ymu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(481-483)ACA>GCA		eukaryotic translation initiation factor 3,							60.0	59.0	59.0					8																	109241415		2203	4300	6503	SO:0001583	missense	3646				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding	g.chr8:109241415T>C	U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"""eukaryotic translation initiation factor 3, subunit 6 48kDa"""	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.481A>G	8.37:g.109241415T>C	ENSP00000220849:p.Thr161Ala					EIF3E_uc003ymt.2_Missense_Mutation_p.T112A|EIF3E_uc003ymv.2_Missense_Mutation_p.T68A|EIF3E_uc010mci.1_Missense_Mutation_p.T161A	p.T161A	NM_001568	NP_001559	P60228	EIF3E_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)		6	509	-			161			Sufficient for interaction with TRIM27.			Missense_Mutation	SNP	ENST00000220849.5	37	c.481A>G	CCDS6308.1	.	.	.	.	.	.	.	.	.	.	t	13.54	2.267566	0.40095	.	.	ENSG00000104408	ENST00000220849;ENST00000519030;ENST00000519627	T;T;T	0.42513	0.97;0.97;0.97	5.31	5.31	0.75309	.	0.147807	0.64402	D	0.000012	T	0.32041	0.0816	L	0.29908	0.895	0.58432	D	0.999997	B;B	0.15473	0.013;0.005	B;B	0.06405	0.002;0.002	T	0.08229	-1.0732	9	.	.	.	-17.5833	15.5697	0.76323	0.0:0.0:0.0:1.0	.	161;161	B2R806;P60228	.;EIF3E_HUMAN	A	161;68;34	ENSP00000220849:T161A;ENSP00000428796:T68A;ENSP00000430839:T34A	.	T	-	1	0	EIF3E	109310591	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.831000	0.86748	2.136000	0.66102	0.473000	0.43528	ACA		PASS	0.363	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568		40	45	40	45	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139163936	139163936	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr8:139163936C>A	ENST00000395297.1	-	13	2952	c.2782G>T	c.(2782-2784)Ggt>Tgt	p.G928C		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	928								p.G928C(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGAGAGAGACCCTCAACCTCT	0.502										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(2782-2784)GGT>TGT		hypothetical protein LOC51059							136.0	124.0	128.0					8																	139163936		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139163936C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2782G>T	8.37:g.139163936C>A	ENSP00000378710:p.Gly928Cys	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.G829C|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.G490C|FAM135B_uc003yvb.2_Missense_Mutation_p.G490C	p.G928C	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2953	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		928					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2782G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093859	0.56075	.	.	ENSG00000147724	ENST00000395297	T	0.14266	2.52	5.24	2.29	0.28610	.	2.580280	0.01025	N	0.004048	T	0.15522	0.0374	N	0.14661	0.345	0.09310	N	1	D;D;P	0.63046	0.992;0.984;0.871	P;P;B	0.53146	0.719;0.54;0.24	T	0.10917	-1.0609	10	0.66056	D	0.02	0.4079	4.4257	0.11501	0.0:0.5301:0.1832:0.2867	.	928;928;928	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	C	928	ENSP00000378710:G928C	ENSP00000276737:G928C	G	-	1	0	FAM135B	139233118	0.000000	0.05858	0.001000	0.08648	0.281000	0.26958	0.605000	0.24179	0.150000	0.19136	0.655000	0.94253	GGT		PASS	0.502	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		91	75	91	75	---	---	---	---
ZNF517	340385	broad.mit.edu	37	8	146033405	146033405	+	Silent	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr8:146033405C>T	ENST00000531720.1	+	4	1149	c.1104C>T	c.(1102-1104)caC>caT	p.H368H	ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000359971.3_Silent_p.H368H|ZNF517_ENST00000525105.1_Intron			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	368					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H368H(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			ACCCGCCCCACGAGTGCCCGG	0.746																																						uc003zed.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1102-1104)CAC>CAT		zinc finger protein 517							7.0	9.0	8.0					8																	146033405		2152	4225	6377	SO:0001819	synonymous_variant	340385				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146033405C>T	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"""Zinc fingers, C2H2-type"", ""-"""	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.1104C>T	8.37:g.146033405C>T						ZNF517_uc010mgd.1_Silent_p.H274H|ZNF517_uc003zee.1_RNA|ZNF517_uc011llm.1_Silent_p.H274H|ZNF517_uc003zef.1_Intron	p.H368H	NM_213605	NP_998770	Q6ZMY9	ZN517_HUMAN	Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)		5	1211	+	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		368			C2H2-type 7.			Silent	SNP	ENST00000531720.1	37	c.1104C>T	CCDS6434.1	.	.	.	.	.	.	.	.	.	.	C	2.924	-0.222651	0.06061	.	.	ENSG00000197363	ENST00000529429	.	.	.	2.53	1.62	0.23740	.	.	.	.	.	T	0.31263	0.0791	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.20371	-1.0277	4	.	.	.	.	6.7265	0.23359	0.0:0.84:0.0:0.16	.	.	.	.	M	335	.	.	T	+	2	0	ZNF517	146004209	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.213000	0.09305	1.411000	0.46957	0.561000	0.74099	ACG		PASS	0.746	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261		10	4	10	4	---	---	---	---
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A	rs373338988		TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532			T	MLL	ALL																																	uc003zoe.2				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)		urinary_tract(1)|large_intestine(1)|lung(1)|kidney(1)	lung(2)|ovary(1)	3						c.(463-465)AGC>AGT		myeloid/lymphoid or mixed-lineage leukemia							10.0	15.0	14.0					9																	20414379		1871	3851	5722	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414379G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.465C>T	9.37:g.20414379G>A						MLLT3_uc011lne.1_Silent_p.S123S|MLLT3_uc011lnf.1_Silent_p.S152S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Silent_p.S123S	p.S155S	NM_004529	NP_004520	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	724	-			155			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.465C>T	CCDS6494.1																																																																																				PASS	0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	69	5	69	---	---	---	---
GCNT1	2650	broad.mit.edu	37	9	79117766	79117766	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr9:79117766A>G	ENST00000376730.4	+	4	952	c.469A>G	c.(469-471)Aaa>Gaa	p.K157E	GCNT1_ENST00000536223.1_Missense_Mutation_p.K157E|GCNT1_ENST00000444201.2_Missense_Mutation_p.K157E|GCNT1_ENST00000442371.1_Missense_Mutation_p.K157E	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	157	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)	p.K157E(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TGTGGACACAAAATCCGAGGA	0.438																																						uc010mpf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(469-471)AAA>GAA		beta-1,3-galactosyl-O-glycosyl-glycoprotein							71.0	72.0	72.0					9																	79117766		2203	4300	6503	SO:0001583	missense	2650				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	g.chr9:79117766A>G	L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4203	protein-coding gene	gene with protein product	"""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"""	600391	"""glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.469A>G	9.37:g.79117766A>G	ENSP00000365920:p.Lys157Glu					GCNT1_uc010mpg.2_Missense_Mutation_p.K157E|GCNT1_uc010mph.2_Missense_Mutation_p.K157E|GCNT1_uc004akf.3_Missense_Mutation_p.K157E|GCNT1_uc010mpi.2_Missense_Mutation_p.K157E|GCNT1_uc004akh.3_Missense_Mutation_p.K157E	p.K157E	NM_001490	NP_001481	Q02742	GCNT1_HUMAN			3	810	+			157			Lumenal (Potential).|Catalytic (By similarity).		Q6DJZ4	Missense_Mutation	SNP	ENST00000376730.4	37	c.469A>G	CCDS6653.1	.	.	.	.	.	.	.	.	.	.	a	22.6	4.313740	0.81358	.	.	ENSG00000187210	ENST00000536223;ENST00000442371;ENST00000444201;ENST00000376730	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.43545	0.1252	M	0.91406	3.205	0.53688	D	0.999977	D	0.89917	1.0	D	0.97110	1.0	T	0.53107	-0.8485	9	.	.	.	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	157	Q02742	GCNT1_HUMAN	E	157	ENSP00000440883:K157E;ENSP00000415454:K157E;ENSP00000390703:K157E;ENSP00000365920:K157E	.	K	+	1	0	GCNT1	78307586	1.000000	0.71417	0.874000	0.34290	0.684000	0.39900	9.339000	0.96797	2.326000	0.78906	0.533000	0.62120	AAA		PASS	0.438	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634		105	31	105	31	---	---	---	---
CCDC180	100499483	broad.mit.edu	37	9	100139102	100139102	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr9:100139102C>T	ENST00000357054.1	+	49	5802	c.4867C>T	c.(4867-4869)Cag>Tag	p.Q1623*	CCDC180_ENST00000375202.2_Nonsense_Mutation_p.Q1678*|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Nonsense_Mutation_p.Q1678*			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1623						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Q1623*(1)|p.Q1678*(1)									CTGTACATCTCAGATAAAGGA	0.502																																						uc011lut.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|large_intestine(2)|skin(1)	7						c.(5449-5451)CAG>TAG		hypothetical protein LOC57653							112.0	99.0	103.0					9																	100139102		2203	4300	6503	SO:0001587	stop_gained	57653							g.chr9:100139102C>T	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4867C>T	9.37:g.100139102C>T	ENSP00000349562:p.Gln1623*					KIAA1529_uc004axe.1_Nonsense_Mutation_p.Q1623*|KIAA1529_uc004axg.1_Nonsense_Mutation_p.Q1678*|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Nonsense_Mutation_p.Q771*	p.Q1817*	NM_020893	NP_065944					49	6222	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Nonsense_Mutation	SNP	ENST00000357054.1	37	c.5449C>T		.	.	.	.	.	.	.	.	.	.	C	47	13.086784	0.99718	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	.	.	.	3.99	3.1	0.35709	.	0.424503	0.22583	N	0.058199	.	.	.	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-9.1994	7.7042	0.28640	0.0:0.8875:0.0:0.1125	.	.	.	.	X	1623;1678;1678	.	ENSP00000349562:Q1623X	Q	+	1	0	C9orf174	99178923	0.030000	0.19436	0.004000	0.12327	0.000000	0.00434	3.643000	0.54374	1.285000	0.44548	-0.136000	0.14681	CAG		PASS	0.502	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		47	36	47	36	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107549168	107549168	+	Silent	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr9:107549168C>T	ENST00000374736.3	-	47	6688	c.6294G>A	c.(6292-6294)gtG>gtA	p.V2098V		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2098	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.V2098V(2)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GAGATGTAAGCACTACTGATC	0.433																																						uc004bcl.2																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)	large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(6292-6294)GTG>GTA		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						112.0	102.0	106.0					9																	107549168		2203	4300	6503	SO:0001819	synonymous_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107549168C>T	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6294G>A	9.37:g.107549168C>T						NIPSNAP3B_uc004bcj.1_Intron	p.V2098V	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	47	6607	-			2098			ABC transporter 2.		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	c.6294G>A	CCDS6762.1																																																																																				PASS	0.433	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		74	61	74	61	---	---	---	---
IKBKAP	8518	broad.mit.edu	37	9	111640380	111640380	+	Silent	SNP	T	T	C	rs149038322		TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr9:111640380T>C	ENST00000374647.5	-	35	4057	c.3750A>G	c.(3748-3750)gaA>gaG	p.E1250E	IKBKAP_ENST00000467959.1_5'Flank|IKBKAP_ENST00000537196.1_Silent_p.E901E	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1250					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)	p.E1250E(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCCTTCCTTGTTCATCAAACT	0.378																																						uc004bdm.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						c.(3748-3750)GAA>GAG		inhibitor of kappa light polypeptide gene		T		1,4405	2.1+/-5.4	0,1,2202	91.0	89.0	90.0		3750	1.3	1.0	9	dbSNP_134	90	0,8600		0,0,4300	no	coding-synonymous	IKBKAP	NM_003640.3		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		1250/1333	111640380	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111640380T>C	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.3750A>G	9.37:g.111640380T>C						IKBKAP_uc004bdl.2_Silent_p.E901E|IKBKAP_uc011lwc.1_Silent_p.E1136E|IKBKAP_uc010mtq.2_Silent_p.E901E|IKBKAP_uc004bdk.2_Silent_p.E254E|IKBKAP_uc010mtp.2_RNA	p.E1250E	NM_003640	NP_003631	O95163	ELP1_HUMAN			35	4270	-			1250					Q5JSV2|Q9H327|Q9UG87	Silent	SNP	ENST00000374647.5	37	c.3750A>G	CCDS6773.1																																																																																				PASS	0.378	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			66	30	66	30	---	---	---	---
ZFP37	7539	broad.mit.edu	37	9	115805750	115805751	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr9:115805750_115805751CC>AA	ENST00000374227.3	-	4	1174_1175	c.1147_1148GG>TT	c.(1147-1149)GGg>TTg	p.G383L	ZFP37_ENST00000555206.1_Missense_Mutation_p.G384L|ZFP37_ENST00000553380.1_Missense_Mutation_p.G398L	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G383V(1)|p.G383W(1)|p.G383L(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GAAGGTTTTCCCACATTCAGCA	0.411																																						uc004bgm.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)|skin(1)	2						c.(1147-1149)GGG>GTG|c.(1147-1149)GGG>TGG		zinc finger protein 37 homolog																																				SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115805750C>A|g.chr9:115805751C>A	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1147_1148delinsAA	9.37:g.115805750_115805751delinsAA	ENSP00000363344:p.Gly383Leu					ZFP37_uc011lwz.1_Missense_Mutation_p.G398V|ZFP37_uc011lxa.1_Missense_Mutation_p.G384V|ZFP37_uc011lwz.1_Missense_Mutation_p.G398W|ZFP37_uc011lxa.1_Missense_Mutation_p.G384W	p.G383V|p.G383W	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN			4	1176|1175	-			383			C2H2-type 4.		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.1148G>T|c.1147G>T	CCDS6787.1																																																																																				PASS	0.411	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		116|117	64	116	64	---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137674557	137674557	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr9:137674557G>T	ENST00000371817.3	+	29	2889	c.2475G>T	c.(2473-2475)aaG>aaT	p.K825N		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	825	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.K825N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGGGCATCAAGGGTGATCGGG	0.597																																						uc004cfe.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(2473-2475)AAG>AAT		alpha 1 type V collagen preproprotein							227.0	221.0	223.0					9																	137674557		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137674557G>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2475G>T	9.37:g.137674557G>T	ENSP00000360882:p.Lys825Asn						p.K825N	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	29	2857	+		Myeloproliferative disorder(178;0.0341)	825			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.2475G>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144363	0.57044	.	.	ENSG00000130635	ENST00000371817	D	0.93604	-3.25	4.18	2.31	0.28768	.	0.000000	0.85682	U	0.000000	D	0.95551	0.8554	M	0.79926	2.475	0.49051	D	0.99974	D	0.76494	0.999	D	0.85130	0.997	D	0.93616	0.6943	10	0.72032	D	0.01	.	6.4689	0.21997	0.4036:0.0:0.5964:0.0	.	825	P20908	CO5A1_HUMAN	N	825	ENSP00000360882:K825N	ENSP00000360882:K825N	K	+	3	2	COL5A1	136814378	1.000000	0.71417	0.993000	0.49108	0.937000	0.57800	0.653000	0.24902	0.353000	0.24079	0.563000	0.77884	AAG		PASS	0.597	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		157	78	157	78	---	---	---	---
SNAPC4	6621	broad.mit.edu	37	9	139289762	139289762	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr9:139289762C>G	ENST00000298532.2	-	4	827	c.459G>C	c.(457-459)aaG>aaC	p.K153N		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa									p.K153N(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGCCCGTGACCTTGTCCTTGA	0.592																																						uc004chh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(457-459)AAG>AAC		small nuclear RNA activating complex,							108.0	89.0	95.0					9																	139289762		2203	4300	6503	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139289762C>G	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.459G>C	9.37:g.139289762C>G	ENSP00000298532:p.Lys153Asn						p.K153N	NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	4	468	-		Myeloproliferative disorder(178;0.0511)	153						Missense_Mutation	SNP	ENST00000298532.2	37	c.459G>C	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613163	0.46631	.	.	ENSG00000165684	ENST00000298532	T	0.30182	1.54	5.01	1.04	0.20106	.	0.406783	0.26677	N	0.023076	T	0.39911	0.1096	L	0.59436	1.845	0.22888	N	0.99861	D	0.64830	0.994	P	0.56434	0.798	T	0.17561	-1.0365	10	0.72032	D	0.01	-11.7822	8.9397	0.35722	0.0:0.5548:0.0:0.4452	.	153	Q5SXM2	SNPC4_HUMAN	N	153	ENSP00000298532:K153N	ENSP00000298532:K153N	K	-	3	2	SNAPC4	138409583	0.972000	0.33761	0.775000	0.31657	0.327000	0.28475	0.279000	0.18771	0.521000	0.28445	0.655000	0.94253	AAG		PASS	0.592	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		8	63	8	63	---	---	---	---
TAF3	83860	broad.mit.edu	37	10	7860771	7860771	+	Silent	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr10:7860771C>T	ENST00000344293.5	+	1	305	c.99C>T	c.(97-99)ctC>ctT	p.L33L		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	33					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)	p.L33L(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CCTGCCACCTCCTCACGGACG	0.672																																						uc010qbd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(97-99)CTC>CTT		RNA polymerase II transcription factor TAFII140							13.0	19.0	17.0					10																	7860771		1950	4122	6072	SO:0001819	synonymous_variant	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:7860771C>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.99C>T	10.37:g.7860771C>T							p.L33L	NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN			1	99	+			33					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	ENST00000344293.5	37	c.99C>T	CCDS41487.1																																																																																				PASS	0.672	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		5	7	5	7	---	---	---	---
USP6NL	9712	broad.mit.edu	37	10	11504657	11504657	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr10:11504657C>T	ENST00000609104.1	-	15	2664	c.2270G>A	c.(2269-2271)aGc>aAc	p.S757N	USP6NL_ENST00000277575.5_Missense_Mutation_p.S774N|USP6NL_ENST00000379237.2_Missense_Mutation_p.S780N	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	757					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.S774N(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						ATTGCCACGGCTAGCATCTCG	0.468																																						uc001ikt.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2269-2271)AGC>AAC		USP6 N-terminal like isoform 1							164.0	170.0	168.0					10																	11504657		1960	4157	6117	SO:0001583	missense	9712					intracellular	Rab GTPase activator activity	g.chr10:11504657C>T	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.2270G>A	10.37:g.11504657C>T	ENSP00000476462:p.Ser757Asn					USP6NL_uc001iks.1_Missense_Mutation_p.S774N	p.S757N	NM_014688	NP_055503	Q92738	US6NL_HUMAN			15	2591	-			757					A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	c.2270G>A	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.919349	0.00498	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.03553	3.89;3.9	6.03	-4.51	0.03483	.	1.224140	0.05508	N	0.559685	T	0.01092	0.0036	N	0.00879	-1.12	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.46884	-0.9159	10	0.02654	T	1	.	8.3513	0.32303	0.0:0.3308:0.4239:0.2453	.	757;774	Q92738;Q92738-2	US6NL_HUMAN;.	N	757;774;757	ENSP00000277575:S774N;ENSP00000368539:S757N	ENSP00000277575:S774N	S	-	2	0	USP6NL	11544663	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.047000	0.11963	-1.142000	0.02869	0.655000	0.94253	AGC		PASS	0.468	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		85	127	85	127	---	---	---	---
ZWINT	11130	broad.mit.edu	37	10	58119839	58119839	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr10:58119839T>C	ENST00000373944.3	-	3	234	c.196A>G	c.(196-198)Atc>Gtc	p.I66V	ZWINT_ENST00000460654.1_5'Flank|ZWINT_ENST00000361148.6_Missense_Mutation_p.I66V|ZWINT_ENST00000395405.1_Missense_Mutation_p.I66V|ZWINT_ENST00000318387.2_5'Flank			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	66					establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)	p.I66V(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						TGAGCCAGGATGTTCTGCAGG	0.557																																						uc001jjx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(196-198)ATC>GTC		ZW10 interactor isoform a							59.0	55.0	56.0					10																	58119839		2203	4300	6503	SO:0001583	missense	11130				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding	g.chr10:58119839T>C	AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"""ZW10 interactor"""				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.196A>G	10.37:g.58119839T>C	ENSP00000363055:p.Ile66Val					ZWINT_uc001jjy.1_Missense_Mutation_p.I66V|ZWINT_uc001jka.1_Missense_Mutation_p.I66V|ZWINT_uc009xoy.1_Intron	p.I66V	NM_007057	NP_008988	O95229	ZWINT_HUMAN			3	233	-			66					A6NNV6|Q0D2I3|Q9BWD0	Missense_Mutation	SNP	ENST00000373944.3	37	c.196A>G	CCDS7249.1	.	.	.	.	.	.	.	.	.	.	T	10.26	1.300713	0.23650	.	.	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000373940;ENST00000361148	T;T;T	0.42900	0.96;0.96;0.96	4.64	3.47	0.39725	.	0.137078	0.34088	N	0.004271	T	0.21227	0.0511	N	0.08118	0	0.22629	N	0.998918	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14254	-1.0479	10	0.44086	T	0.13	-7.2914	7.8057	0.29200	0.8112:0.0:0.0:0.1888	.	66;66	A6NNV6;O95229	.;ZWINT_HUMAN	V	66	ENSP00000363055:I66V;ENSP00000378801:I66V;ENSP00000354921:I66V	ENSP00000354921:I66V	I	-	1	0	ZWINT	57789845	1.000000	0.71417	0.963000	0.40424	0.805000	0.45488	2.908000	0.48750	0.733000	0.32492	-0.319000	0.08680	ATC		PASS	0.557	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1			26	41	26	41	---	---	---	---
CYP2C18	1562	broad.mit.edu	37	10	96495057	96495057	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr10:96495057G>C	ENST00000285979.6	+	9	1528	c.1329G>C	c.(1327-1329)atG>atC	p.M443I	CYP2C19_ENST00000464755.1_Intron|CYP2C18_ENST00000339022.5_Missense_Mutation_p.M384I	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	443					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.M443I(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TGGCCCGCATGGAGCTGTTTT	0.443																																						uc001kjv.3																			2	Substitution - Missense(2)		NS(1)|lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(1327-1329)ATG>ATC		cytochrome P450 family 2 subfamily C polypeptide							133.0	125.0	128.0					10																	96495057		2203	4300	6503	SO:0001583	missense	1562				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96495057G>C	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.1329G>C	10.37:g.96495057G>C	ENSP00000285979:p.Met443Ile					CYP2C18_uc001kjw.3_Missense_Mutation_p.M384I|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Intron	p.M443I	NM_000772	NP_000763	P33260	CP2CI_HUMAN		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	9	1655	+		Colorectal(252;0.09)	443					B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	c.1329G>C	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	g	16.15	3.042442	0.55003	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.71222	-0.55;-0.55	4.09	3.18	0.36537	.	0.000000	0.85682	U	0.000000	D	0.84714	0.5533	M	0.88906	2.99	0.80722	D	1	D;D	0.62365	0.991;0.972	D;P	0.77004	0.989;0.838	D	0.86477	0.1789	10	0.87932	D	0	.	11.6629	0.51358	0.0:0.1804:0.8196:0.0	.	384;443	Q4VAT5;P33260	.;CP2CI_HUMAN	I	384;443	ENSP00000341293:M384I;ENSP00000285979:M443I	ENSP00000285979:M443I	M	+	3	0	CYP2C18	96485047	1.000000	0.71417	0.962000	0.40283	0.361000	0.29550	5.169000	0.64984	0.895000	0.36342	0.455000	0.32223	ATG		PASS	0.443	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		52	66	52	66	---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108469059	108469059	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr10:108469059C>A	ENST00000263054.6	-	7	1072	c.1065G>T	c.(1063-1065)gaG>gaT	p.E355D	SORCS1_ENST00000344440.6_Missense_Mutation_p.E355D	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	355					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.E355D(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCTGTTGGCCTCTGTACAGT	0.393																																						uc001kym.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(1063-1065)GAG>GAT		SORCS receptor 1 isoform a							124.0	114.0	118.0					10																	108469059		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108469059C>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1065G>T	10.37:g.108469059C>A	ENSP00000263054:p.Glu355Asp					SORCS1_uc001kyl.2_Missense_Mutation_p.E355D|SORCS1_uc009xxs.2_Missense_Mutation_p.E355D|SORCS1_uc001kyn.1_Missense_Mutation_p.E355D|SORCS1_uc001kyo.2_Missense_Mutation_p.E355D	p.E355D	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	7	1073	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	355			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.1065G>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.946799	0.34377	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.37058	1.22;1.22	5.71	-2.84	0.05751	VPS10 (1);	0.161988	0.53938	N	0.000042	T	0.19525	0.0469	N	0.24115	0.695	0.34563	D	0.712597	B;B;B;B;B	0.24132	0.059;0.038;0.098;0.059;0.098	B;B;B;B;B	0.33454	0.079;0.109;0.164;0.079;0.164	T	0.13019	-1.0525	9	.	.	.	-12.4639	5.8756	0.18826	0.0:0.2599:0.3714:0.3687	.	355;355;355;355;355	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	D	355	ENSP00000263054:E355D;ENSP00000345964:E355D	.	E	-	3	2	SORCS1	108459049	0.000000	0.05858	0.214000	0.23707	0.990000	0.78478	-0.802000	0.04545	-0.323000	0.08602	0.655000	0.94253	GAG		PASS	0.393	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		9	51	9	51	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1264226	1264226	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr11:1264226C>G	ENST00000529681.1	+	31	6174	c.6116C>G	c.(6115-6117)cCc>cGc	p.P2039R	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.P2042R	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2039	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.P2042R(1)|p.P2039R(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGGCCACCCCCTCCTCCACC	0.652																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(8194-8196)CCC>CGC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							114.0	144.0	134.0					11																	1264226		2078	4192	6270	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264226C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6116C>G	11.37:g.1264226C>G	ENSP00000436812:p.Pro2039Arg					MUC5B_uc001ltb.2_Missense_Mutation_p.P2042R	p.P2732R	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	47	8321	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2039			7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.8195C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	6.515	0.463170	0.12402	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.17213	2.29;2.46	2.46	0.207	0.15214	.	.	.	.	.	T	0.21468	0.0517	M	0.67397	2.05	0.09310	N	1	P;P	0.48407	0.91;0.91	P;P	0.44518	0.452;0.452	T	0.12708	-1.0537	9	0.87932	D	0	.	9.3475	0.38118	0.0:0.5751:0.4249:0.0	.	2732;2042	A7Y9J9;E9PBJ0	.;.	R	2039;2042;2040;2109	ENSP00000436812:P2039R;ENSP00000415793:P2042R	ENSP00000343037:P2040R	P	+	2	0	MUC5B	1220802	0.009000	0.17119	0.000000	0.03702	0.155000	0.21991	2.910000	0.48766	-0.087000	0.12528	0.305000	0.20034	CCC		PASS	0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		46	84	46	84	---	---	---	---
TRIM34	53840	broad.mit.edu	37	11	5664869	5664869	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr11:5664869A>T	ENST00000514226.1	+	8	1734	c.1397A>T	c.(1396-1398)cAg>cTg	p.Q466L	TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.Q466L|TRIM34_ENST00000429814.2_Missense_Mutation_p.Q466L|TRIM34_ENST00000495668.1_3'UTR|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.Q820L|HBG2_ENST00000380259.2_Intron	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	466	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.Q820L(1)|p.Q466L(1)		NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTTTTCTCAGCCTGTTTAT	0.423																																						uc001mbf.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2458-2460)CAG>CTG		tripartite motif-containing 6 and tripartite							178.0	179.0	179.0					11																	5664869		2201	4297	6498	SO:0001583	missense	445372					intracellular	zinc ion binding	g.chr11:5664869A>T	AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.1397A>T	11.37:g.5664869A>T	ENSP00000422947:p.Gln466Leu					HBG2_uc001mak.1_Intron|TRIM34_uc001mbh.2_Missense_Mutation_p.Q466L|TRIM34_uc009yeq.2_Missense_Mutation_p.Q221L|TRIM34_uc001mbi.2_Missense_Mutation_p.Q466L|TRIM78P_uc009yer.2_Intron	p.Q820L	NM_001003819	NP_001003819	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	14	2703	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	820					D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	c.2459A>T	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.975071	0.34848	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	2.99	-0.659	0.11424	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.561534	0.13458	N	0.386389	T	0.65091	0.2658	M	0.81802	2.56	0.09310	N	1	P;P	0.46064	0.578;0.872	P;P	0.50270	0.491;0.636	T	0.55354	-0.8154	10	0.25106	T	0.35	.	5.6911	0.17831	0.5833:0.0:0.4167:0.0	.	466;820	Q9BYJ4;B2RNG4	TRI34_HUMAN;.	L	820;466;466;466;820	ENSP00000422947:Q466L;ENSP00000402595:Q466L;ENSP00000395982:Q466L;ENSP00000346916:Q820L	ENSP00000402595:Q466L	Q	+	2	0	TRIM34;TRIM6-TRIM34	5621445	0.000000	0.05858	0.021000	0.16686	0.869000	0.49853	0.087000	0.14958	-0.145000	0.11294	0.383000	0.25322	CAG		PASS	0.423	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827		92	258	92	258	---	---	---	---
CCKBR	887	broad.mit.edu	37	11	6291981	6291981	+	Silent	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr11:6291981C>T	ENST00000334619.2	+	4	952	c.759C>T	c.(757-759)ggC>ggT	p.G253G	CCKBR_ENST00000532715.1_Silent_p.G169G|CCKBR_ENST00000525462.1_Silent_p.G253G	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	253					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)	p.G253G(2)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCTTTGACGGCGACAGTGACA	0.597																																						uc001mcp.2																			2	Substitution - coding silent(2)		lung(2)	lung(5)|ovary(2)|breast(1)	8						c.(757-759)GGC>GGT		cholecystokinin B receptor	Pentagastrin(DB00183)						104.0	81.0	89.0					11																	6291981		2201	4296	6497	SO:0001819	synonymous_variant	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6291981C>T	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.759C>T	11.37:g.6291981C>T						CCKBR_uc001mcq.2_Silent_p.G181G|CCKBR_uc001mcr.2_Silent_p.G253G|CCKBR_uc001mcs.2_Silent_p.G253G|CCKBR_uc001mct.1_5'Flank	p.G253G	NM_176875	NP_795344	P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	952	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	253			Cytoplasmic (Potential).		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Silent	SNP	ENST00000334619.2	37	c.759C>T	CCDS7761.1																																																																																				PASS	0.597	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		28	87	28	87	---	---	---	---
MUC15	143662	broad.mit.edu	37	11	26584686	26584686	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr11:26584686A>T	ENST00000455601.2	-	3	939	c.821T>A	c.(820-822)cTt>cAt	p.L274H	MUC15_ENST00000529533.1_Missense_Mutation_p.L301H|ANO3_ENST00000529242.1_3'UTR|MUC15_ENST00000281268.8_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000527569.1_Intron|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000436318.2_Missense_Mutation_p.L301H	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	274					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L274H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GTCGTCATAAAGTCGCCGATG	0.423																																						uc001mqx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(820-822)CTT>CAT		mucin 15 isoform b							97.0	98.0	98.0					11																	26584686		2203	4300	6503	SO:0001583	missense	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26584686A>T	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.821T>A	11.37:g.26584686A>T	ENSP00000397339:p.Leu274His					ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.L301H|MUC15_uc001mqy.2_Intron	p.L274H	NM_145650	NP_663625	Q8N387	MUC15_HUMAN			3	1087	-			274			Cytoplasmic (Potential).		B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	ENST00000455601.2	37	c.821T>A	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	A	19.71	3.878614	0.72294	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000529533	T;T;T	0.48522	0.85;0.81;0.81	4.52	4.52	0.55395	.	0.000000	0.45126	D	0.000386	T	0.56077	0.1961	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.60782	-0.7195	10	0.87932	D	0	-20.8913	13.1013	0.59222	1.0:0.0:0.0:0.0	.	274;301	Q8N387;E9PII6	MUC15_HUMAN;.	H	274;301;301	ENSP00000397339:L274H;ENSP00000416753:L301H;ENSP00000431983:L301H	ENSP00000416753:L301H	L	-	2	0	MUC15	26541262	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.294000	0.65687	1.787000	0.52448	0.528000	0.53228	CTT		PASS	0.423	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		46	101	46	101	---	---	---	---
FIBIN	387758	broad.mit.edu	37	11	27016499	27016499	+	Silent	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr11:27016499C>T	ENST00000318627.2	+	1	872	c.426C>T	c.(424-426)agC>agT	p.S142S		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	142						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)		p.S142S(1)		breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						AGCTGGAGAGCAAGTTCAAGC	0.592																																						uc001mrd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(424-426)AGC>AGT		fin bud initiation factor homolog precursor							73.0	68.0	70.0					11																	27016499		2203	4299	6502	SO:0001819	synonymous_variant	387758					extracellular region|Golgi apparatus		g.chr11:27016499C>T	BC026873	CCDS7861.1	11p14.2	2008-12-03				ENSG00000176971			33747	protein-coding gene	gene with protein product						17196583	Standard	NM_203371		Approved	MGC24932	uc001mrd.3	Q8TAL6		ENST00000318627.2:c.426C>T	11.37:g.27016499C>T							p.S142S	NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN			1	872	+			142						Silent	SNP	ENST00000318627.2	37	c.426C>T	CCDS7861.1																																																																																				PASS	0.592	FIBIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387945.1	NM_203371		39	63	39	63	---	---	---	---
OR10AG1	282770	broad.mit.edu	37	11	55735108	55735108	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr11:55735108G>T	ENST00000312345.2	-	1	882	c.832C>A	c.(832-834)Cct>Act	p.P278T		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P278T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TATATAATAGGATTCAAAGTT	0.343																																						uc010rit.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(832-834)CCT>ACT		olfactory receptor, family 10, subfamily AG,							58.0	63.0	61.0					11																	55735108		2201	4296	6497	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735108G>T	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.832C>A	11.37:g.55735108G>T	ENSP00000311477:p.Pro278Thr						p.P278T	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			1	832	-	Esophageal squamous(21;0.0137)		278			Helical; Name=7; (Potential).		B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.832C>A	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949247	0.34377	.	.	ENSG00000174970	ENST00000312345	T	0.63913	-0.07	5.37	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000049	D	0.86657	0.5985	H	0.99525	4.61	0.33114	D	0.540947	D	0.89917	1.0	D	0.79784	0.993	D	0.90697	0.4617	10	0.87932	D	0	.	10.2968	0.43629	0.1635:0.0:0.8365:0.0	.	278	Q8NH19	O10AG_HUMAN	T	278	ENSP00000311477:P278T	ENSP00000311477:P278T	P	-	1	0	OR10AG1	55491684	1.000000	0.71417	0.260000	0.24451	0.149000	0.21700	5.450000	0.66626	0.679000	0.31345	0.477000	0.44152	CCT		PASS	0.343	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		33	56	33	56	---	---	---	---
OR5F1	338674	broad.mit.edu	37	11	55761176	55761176	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr11:55761176C>A	ENST00000278409.1	-	1	925	c.926G>T	c.(925-927)aGg>aTg	p.R309M		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	309					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R309M(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GGAAGAGGTCCTTTTCCTGCT	0.353																																						uc010riv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(925-927)AGG>ATG		olfactory receptor, family 5, subfamily F,							49.0	51.0	50.0					11																	55761176		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761176C>A	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.926G>T	11.37:g.55761176C>A	ENSP00000278409:p.Arg309Met						p.R309M	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	926	-	Esophageal squamous(21;0.00448)		309			Cytoplasmic (Potential).		Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.926G>T	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	C	5.517	0.280260	0.10458	.	.	ENSG00000149133	ENST00000278409	T	0.38887	1.11	2.99	2.06	0.26882	.	.	.	.	.	T	0.21427	0.0516	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.18272	-1.0342	9	0.59425	D	0.04	.	5.6702	0.17717	0.0:0.7249:0.0:0.2751	.	309	O95221	OR5F1_HUMAN	M	309	ENSP00000278409:R309M	ENSP00000278409:R309M	R	-	2	0	OR5F1	55517752	0.024000	0.19004	0.002000	0.10522	0.001000	0.01503	0.675000	0.25232	0.389000	0.25086	-0.738000	0.03535	AGG		PASS	0.353	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		15	45	15	45	---	---	---	---
OR5M3	219482	broad.mit.edu	37	11	56237489	56237489	+	Missense_Mutation	SNP	T	T	C	rs371141512		TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr11:56237489T>C	ENST00000312240.2	-	1	525	c.485A>G	c.(484-486)tAc>tGc	p.Y162C		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y162C(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GTACAAGCCGTAAGTCCATAA	0.403																																						uc010rjk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(484-486)TAC>TGC		olfactory receptor, family 5, subfamily M,							121.0	111.0	114.0					11																	56237489		2201	4295	6496	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237489T>C	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.485A>G	11.37:g.56237489T>C	ENSP00000312208:p.Tyr162Cys						p.Y162C	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN			1	485	-	Esophageal squamous(21;0.00448)		162			Extracellular (Potential).		B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.485A>G	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.345292	0.24426	.	.	ENSG00000174937	ENST00000312240	T	0.00099	8.73	5.22	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.339287	0.21560	N	0.072597	T	0.00210	0.0006	N	0.26130	0.795	0.09310	N	1	D	0.71674	0.998	D	0.75484	0.986	T	0.54529	-0.8280	10	0.87932	D	0	-8.8848	3.0504	0.06167	0.1814:0.1747:0.0:0.6439	.	162	Q8NGP4	OR5M3_HUMAN	C	162	ENSP00000312208:Y162C	ENSP00000312208:Y162C	Y	-	2	0	OR5M3	55994065	0.000000	0.05858	0.048000	0.18961	0.198000	0.23893	-0.386000	0.07370	1.967000	0.57214	0.448000	0.29417	TAC		PASS	0.403	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		5	185	5	185	---	---	---	---
OR9G4	283189	broad.mit.edu	37	11	56511019	56511019	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr11:56511019G>T	ENST00000302957.3	-	1	268	c.269C>A	c.(268-270)tCt>tAt	p.S90Y		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S90Y(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGTATACACAGAGGTATACCA	0.433																																						uc010rjo.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(268-270)TCT>TAT		olfactory receptor, family 9, subfamily G,							93.0	97.0	96.0					11																	56511019		2201	4296	6497	SO:0001583	missense	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56511019G>T	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.269C>A	11.37:g.56511019G>T	ENSP00000307515:p.Ser90Tyr						p.S90Y	NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN			1	269	-			90			Helical; Name=2; (Potential).		Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	c.269C>A	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.209192	0.39003	.	.	ENSG00000172457	ENST00000302957	T	0.00408	7.54	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38217	N	0.001761	T	0.00815	0.0027	H	0.97491	4.015	0.09310	N	1	P	0.46277	0.875	B	0.36719	0.231	T	0.37314	-0.9711	10	0.87932	D	0	-12.8952	12.7331	0.57208	0.0:0.0:0.8357:0.1643	.	90	Q8NGQ1	OR9G4_HUMAN	Y	90	ENSP00000307515:S90Y	ENSP00000307515:S90Y	S	-	2	0	OR9G4	56267595	0.614000	0.27017	0.685000	0.30070	0.940000	0.58332	3.374000	0.52402	2.749000	0.94314	0.643000	0.83706	TCT		PASS	0.433	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		38	116	38	116	---	---	---	---
SERPING1	710	broad.mit.edu	37	11	57373646	57373646	+	Silent	SNP	C	C	T	rs143760635	byFrequency	TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr11:57373646C>T	ENST00000278407.4	+	5	1076	c.849C>T	c.(847-849)tcC>tcT	p.S283S	SERPING1_ENST00000403558.1_Silent_p.S317S|SERPING1_ENST00000378324.2_Silent_p.S231S|SERPING1_ENST00000378323.4_Silent_p.S288S|SERPING1_ENST00000340687.6_Silent_p.S283S	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	283					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S283S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GTCTGCCCTCCGATACCCGCC	0.542													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20271	0.0		0.001	False		,,,				2504	0.0					uc001nkp.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(847-849)TCC>TCT		serpin peptidase inhibitor, clade G, member 1		C	,	1,4401	2.1+/-5.4	0,1,2200	190.0	178.0	183.0		849,849	-10.3	0.0	11	dbSNP_134	183	22,8570	16.0+/-53.3	0,22,4274	no	coding-synonymous,coding-synonymous	SERPING1	NM_000062.2,NM_001032295.1	,	0,23,6474	TT,TC,CC		0.2561,0.0227,0.177	,	283/501,283/501	57373646	23,12971	2201	4296	6497	SO:0001819	synonymous_variant	710	Hereditary_Angioedema			blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57373646C>T	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.849C>T	11.37:g.57373646C>T						SERPING1_uc001nkq.1_Silent_p.S283S|SERPING1_uc010rju.1_Silent_p.S231S|SERPING1_uc010rjv.1_Silent_p.S288S|SERPING1_uc001nkr.1_Silent_p.S283S|SERPING1_uc009ymi.1_Silent_p.S283S|SERPING1_uc009ymj.1_Silent_p.S283S|SERPING1_uc001nks.1_5'UTR	p.S283S	NM_000062	NP_000053	P05155	IC1_HUMAN			5	1040	+			283					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Silent	SNP	ENST00000278407.4	37	c.849C>T	CCDS7962.1																																																																																				PASS	0.542	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		13	166	13	166	---	---	---	---
MPEG1	219972	broad.mit.edu	37	11	58978608	58978608	+	Silent	SNP	G	G	A	rs200428005	byFrequency	TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr11:58978608G>A	ENST00000361050.3	-	1	1816	c.1731C>T	c.(1729-1731)tgC>tgT	p.C577C		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	577						integral component of membrane (GO:0016021)		p.C577C(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CGGATTTGACGCAATAGGACA	0.597													G|||	4	0.000798722	0.0015	0.0	5008	,	,		16762	0.0		0.002	False		,,,				2504	0.0					uc001nnu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1729-1731)TGC>TGT		macrophage expressed gene 1 precursor		G		16,3870		0,16,1927	73.0	81.0	79.0		1731	-11.4	0.2	11		79	11,8257		0,11,4123	no	coding-synonymous	MPEG1	NM_001039396.1		0,27,6050	AA,AG,GG		0.133,0.4117,0.2221		577/717	58978608	27,12127	1943	4134	6077	SO:0001819	synonymous_variant	219972					integral to membrane		g.chr11:58978608G>A	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1731C>T	11.37:g.58978608G>A							p.C577C	NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN			1	1887	-		all_epithelial(135;0.125)	577			Extracellular (Potential).		Q2M1T6|Q8TEF8	Silent	SNP	ENST00000361050.3	37	c.1731C>T	CCDS41650.1																																																																																				PASS	0.597	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		14	200	14	200	---	---	---	---
CD248	57124	broad.mit.edu	37	11	66082542	66082542	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr11:66082542G>T	ENST00000311330.3	-	1	1973	c.1957C>A	c.(1957-1959)Ccc>Acc	p.P653T	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	653	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)	p.P653T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						GCCAACTTGGGACTGGGGCCA	0.642																																						uc001ohm.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)	3						c.(1957-1959)CCC>ACC		tumor endothelial marker 1 precursor	Cefalotin(DB00456)						33.0	36.0	35.0					11																	66082542		2197	4283	6480	SO:0001583	missense	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66082542G>T	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1957C>A	11.37:g.66082542G>T	ENSP00000308117:p.Pro653Thr						p.P653T	NM_020404	NP_065137	Q9HCU0	CD248_HUMAN			1	1974	-			653			Pro-rich.|Extracellular (Potential).		Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	ENST00000311330.3	37	c.1957C>A	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	G	4.271	0.049363	0.08243	.	.	ENSG00000174807	ENST00000311330	D	0.87179	-2.22	3.46	0.388	0.16264	.	3.010390	0.02891	U	0.134228	T	0.79149	0.4397	L	0.38175	1.15	0.09310	N	1	B	0.23128	0.08	B	0.15052	0.012	T	0.60037	-0.7341	10	0.11485	T	0.65	0.0586	5.7369	0.18071	0.3916:0.0:0.6084:0.0	.	653	Q9HCU0	CD248_HUMAN	T	653	ENSP00000308117:P653T	ENSP00000308117:P653T	P	-	1	0	CD248	65839118	0.001000	0.12720	0.000000	0.03702	0.123000	0.20343	-0.183000	0.09712	0.177000	0.19895	0.467000	0.42956	CCC		PASS	0.642	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		35	66	35	66	---	---	---	---
IGHMBP2	3508	broad.mit.edu	37	11	68707096	68707096	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr11:68707096C>T	ENST00000255078.3	+	15	2990	c.2879C>T	c.(2878-2880)tCc>tTc	p.S960F	RP11-757G1.5_ENST00000542410.1_RNA	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	960					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)	p.S960F(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AAGAACGGATCCCTGGACCCA	0.657																																						uc001ook.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2878-2880)TCC>TTC		immunoglobulin mu binding protein 2							36.0	35.0	36.0					11																	68707096		2200	4294	6494	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68707096C>T	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2879C>T	11.37:g.68707096C>T	ENSP00000255078:p.Ser960Phe					IGHMBP2_uc001ool.1_Missense_Mutation_p.S584F	p.S960F	NM_002180	NP_002171	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		15	2981	+			960					A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.2879C>T	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236105	0.58886	.	.	ENSG00000132740	ENST00000255078	D	0.90732	-2.72	4.63	2.54	0.30619	.	0.427280	0.24242	N	0.040248	D	0.88392	0.6424	L	0.50333	1.59	0.42198	D	0.991759	P	0.50710	0.938	P	0.47470	0.548	D	0.86721	0.1942	10	0.52906	T	0.07	-0.2858	9.457	0.38760	0.1613:0.6824:0.1562:0.0	.	960	P38935	SMBP2_HUMAN	F	960	ENSP00000255078:S960F	ENSP00000255078:S960F	S	+	2	0	IGHMBP2	68463672	0.430000	0.25538	0.358000	0.25811	0.699000	0.40488	3.455000	0.52993	0.879000	0.35944	0.561000	0.74099	TCC		PASS	0.657	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		115	65	115	65	---	---	---	---
MYEOV	26579	broad.mit.edu	37	11	69063258	69063258	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr11:69063258G>C	ENST00000308946.3	+	3	791	c.341G>C	c.(340-342)gGt>gCt	p.G114A	MYEOV_ENST00000441339.2_Missense_Mutation_p.G114A|MYEOV_ENST00000535407.1_Missense_Mutation_p.G56A	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	114								p.G114A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GGAGACAAGGGTGCCCAGACA	0.617																																						uc001oov.2																			1	Substitution - Missense(1)		lung(1)		0						c.(340-342)GGT>GCT		myeloma overexpressed							97.0	95.0	96.0					11																	69063258		2200	4294	6494	SO:0001583	missense	26579							g.chr11:69063258G>C	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"""myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"""			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.341G>C	11.37:g.69063258G>C	ENSP00000308330:p.Gly114Ala					MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.G114A|MYEOV_uc001oow.2_Missense_Mutation_p.G56A	p.G114A	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)	3	791	+	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		114					Q9UGN6|Q9UGN7	Missense_Mutation	SNP	ENST00000308946.3	37	c.341G>C	CCDS8190.1	.	.	.	.	.	.	.	.	.	.	G	8.726	0.915552	0.17907	.	.	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.27402	1.68;1.68;1.67	1.51	-3.02	0.05446	.	.	.	.	.	T	0.11153	0.0272	N	0.08118	0	0.09310	N	1	B	0.26445	0.149	B	0.15052	0.012	T	0.16276	-1.0408	9	0.87932	D	0	.	0.2422	0.00194	0.3165:0.2026:0.2766:0.2043	.	114	Q96EZ4	MYEOV_HUMAN	A	114;114;56	ENSP00000412482:G114A;ENSP00000308330:G114A;ENSP00000438100:G56A	ENSP00000308330:G114A	G	+	2	0	MYEOV	68819834	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.293000	0.08320	-1.374000	0.02131	-0.440000	0.05779	GGT		PASS	0.617	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			13	898	13	898	---	---	---	---
PPFIA1	8500	broad.mit.edu	37	11	70130106	70130106	+	Intron	SNP	A	A	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr11:70130106A>G	ENST00000253925.7	+	2	479				MIR548K_ENST00000408406.1_RNA|PPFIA1_ENST00000389547.3_Intron|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1						cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			gtacttgcggattttgcttta	0.363																																						hsa-mir-548k|MI0006354																			0					0															99.0	90.0	93.0					11																	70130106		1565	3576	5141	SO:0001627	intron_variant	100302272							g.chr11:70130106A>G	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.264+11564A>G	11.37:g.70130106A>G						PPFIA1_uc001opn.1_Intron|PPFIA1_uc001opo.2_Intron|PPFIA1_uc001opp.2_Intron										+								A6NLE3|Q13135|Q14567|Q8N4I2	RNA	SNP	ENST00000253925.7	37	c.46A>G	CCDS31627.1																																																																																				PASS	0.363	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		13	355	13	355	---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88300727	88300727	+	Silent	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr11:88300727G>T	ENST00000305447.4	-	7	2273	c.2124C>A	c.(2122-2124)atC>atA	p.I708I	GRM5_ENST00000455756.2_Silent_p.I708I|GRM5_ENST00000393297.1_Silent_p.I708I|GRM5_ENST00000418177.2_Silent_p.I708I|GRM5_ENST00000305432.5_Silent_p.I708I	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	708					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.I708I(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	AGAGGGCAACGATGATGCCCA	0.463																																						uc001pcq.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(2122-2124)ATC>ATA		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						171.0	155.0	161.0					11																	88300727		2201	4299	6500	SO:0001819	synonymous_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88300727G>T	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2124C>A	11.37:g.88300727G>T						GRM5_uc009yvm.2_Silent_p.I708I	p.I708I	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			7	2324	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	708			Helical; Name=4; (Potential).		Q6J164	Silent	SNP	ENST00000305447.4	37	c.2124C>A	CCDS44694.1																																																																																				PASS	0.463	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		37	52	37	52	---	---	---	---
UBASH3B	84959	broad.mit.edu	37	11	122669743	122669743	+	Splice_Site	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr11:122669743G>A	ENST00000284273.5	+	10	1825		c.e10+1			NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B						negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		ATCTTGAAAGGTAAGACTTGC	0.443																																						uc001pyi.3																			1	Unknown(1)		lung(1)	central_nervous_system(1)	1						c.e10+1		ubiquitin associated and SH3 domain containing,							105.0	94.0	98.0					11																	122669743		2202	4299	6501	SO:0001630	splice_region_variant	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122669743G>A	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1450+1G>A	11.37:g.122669743G>A							p.G484_splice	NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	10	1810	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)						Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Splice_Site	SNP	ENST00000284273.5	37	c.1450_splice	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477538	0.84640	.	.	ENSG00000154127	ENST00000284273	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2544	0.98414	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBASH3B	122174953	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	9.200000	0.95010	2.885000	0.99019	0.655000	0.94253	.		PASS	0.443	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873	Intron	14	32	14	32	---	---	---	---
OR6X1	390260	broad.mit.edu	37	11	123624792	123624792	+	Missense_Mutation	SNP	G	G	T	rs183324237	byFrequency	TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr11:123624792G>T	ENST00000327930.2	-	1	461	c.435C>A	c.(433-435)agC>agA	p.S145R		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S145R(1)		breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CCACCCAGGAGCTCAGGGCCA	0.507																																						uc010rzy.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(433-435)AGC>AGA		olfactory receptor, family 6, subfamily X,							100.0	102.0	101.0					11																	123624792		2202	4299	6501	SO:0001583	missense	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123624792G>T	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.435C>A	11.37:g.123624792G>T	ENSP00000333724:p.Ser145Arg						p.S145R	NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	435	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	145			Helical; Name=4; (Potential).		B9EGW9|Q6IFA0	Missense_Mutation	SNP	ENST00000327930.2	37	c.435C>A	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	G	9.277	1.047175	0.19827	.	.	ENSG00000221931	ENST00000327930	T	0.37915	1.17	4.69	0.189	0.15119	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.31796	0.0808	M	0.64630	1.985	0.09310	N	1	P	0.35821	0.523	B	0.38264	0.269	T	0.30707	-0.9969	9	0.52906	T	0.07	-3.0778	2.5307	0.04702	0.1878:0.1477:0.5138:0.1508	.	145	Q8NH79	OR6X1_HUMAN	R	145	ENSP00000333724:S145R	ENSP00000333724:S145R	S	-	3	2	OR6X1	123130002	0.000000	0.05858	0.062000	0.19696	0.973000	0.67179	-1.822000	0.01711	0.182000	0.20032	0.650000	0.86243	AGC		PASS	0.507	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		19	43	19	43	---	---	---	---
OR8B8	26493	broad.mit.edu	37	11	124310747	124310747	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr11:124310747G>C	ENST00000328064.2	-	1	307	c.235C>G	c.(235-237)Ccc>Gcc	p.P79A		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	79					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P79A(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AGCATTTTGGGAGTGATAACA	0.418																																						uc010sal.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(235-237)CCC>GCC		olfactory receptor, family 8, subfamily B,							109.0	109.0	109.0					11																	124310747		2201	4299	6500	SO:0001583	missense	26493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124310747G>C	AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.235C>G	11.37:g.124310747G>C	ENSP00000330280:p.Pro79Ala						p.P79A	NM_012378	NP_036510	Q15620	OR8B8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	235	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	79			Extracellular (Potential).		A1L446|Q96RC8	Missense_Mutation	SNP	ENST00000328064.2	37	c.235C>G	CCDS8446.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746812	0.69418	.	.	ENSG00000197125	ENST00000328064	T	0.01838	4.61	3.52	3.52	0.40303	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000161	T	0.12135	0.0295	H	0.96691	3.865	0.52501	D	0.999957	P	0.40515	0.719	B	0.44085	0.44	T	0.15009	-1.0452	10	0.87932	D	0	.	15.9879	0.80176	0.0:0.0:1.0:0.0	.	79	Q15620	OR8B8_HUMAN	A	79	ENSP00000330280:P79A	ENSP00000330280:P79A	P	-	1	0	OR8B8	123815957	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	5.175000	0.65021	2.257000	0.74773	0.557000	0.71058	CCC		PASS	0.418	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378		26	36	26	36	---	---	---	---
CRACR2A	84766	broad.mit.edu	37	12	3806114	3806114	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr12:3806114C>A	ENST00000252322.1	-	4	520	c.52G>T	c.(52-54)Ggg>Tgg	p.G18W	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.G18W|EFCAB4B_ENST00000440314.2_Missense_Mutation_p.G18W	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		18					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G18W(2)		breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TGGCCAGACCCCTGACCAAGT	0.572																																						uc001qmj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(52-54)GGG>TGG		EF-hand calcium binding domain 4B isoform c							35.0	31.0	32.0					12																	3806114		2203	4300	6503	SO:0001583	missense	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3806114C>A																												ENST00000252322.1:c.52G>T	12.37:g.3806114C>A	ENSP00000252322:p.Gly18Trp					EFCAB4B_uc010sen.1_Missense_Mutation_p.G18W|EFCAB4B_uc010seo.1_Missense_Mutation_p.G18W	p.G18W	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		4	624	-			18					B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	c.52G>T	CCDS8522.1	.	.	.	.	.	.	.	.	.	.	C	9.070	0.996769	0.19043	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.61274	0.12;2.52;2.52	0.746	-0.234	0.13074	.	1.364740	0.04358	N	0.356985	T	0.71937	0.3399	M	0.66939	2.045	0.09310	N	1	D;D;D	0.89917	0.964;1.0;0.977	P;D;B	0.97110	0.529;1.0;0.407	T	0.53927	-0.8369	9	0.66056	D	0.02	.	.	.	.	.	18;18;18	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	W	18	ENSP00000409382:G18W;ENSP00000412496:G18W;ENSP00000252322:G18W	ENSP00000252322:G18W	G	-	1	0	EFCAB4B	3676375	0.050000	0.20438	0.003000	0.11579	0.003000	0.03518	0.458000	0.21892	-0.114000	0.11936	-0.271000	0.10264	GGG		PASS	0.572	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			12	23	12	23	---	---	---	---
SLCO1B1	10599	broad.mit.edu	37	12	21355459	21355459	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr12:21355459G>T	ENST00000256958.2	+	10	1266	c.1170G>T	c.(1168-1170)atG>atT	p.M390I		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	390					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.M390I(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)	CAAGTGGAATGTTTTTAGGAG	0.299																																						uc001req.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(1168-1170)ATG>ATT		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						54.0	54.0	54.0					12																	21355459		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.chr12:21355459G>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.1170G>T	12.37:g.21355459G>T	ENSP00000256958:p.Met390Ile						p.M390I	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			10	1274	+			390			Helical; Name=8; (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.1170G>T	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	0.050	-1.253337	0.01457	.	.	ENSG00000134538	ENST00000256958	T	0.36699	1.24	3.23	-4.74	0.03249	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.395356	0.29995	N	0.010679	T	0.10508	0.0257	N	0.13352	0.335	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.32534	-0.9903	10	0.02654	T	1	.	0.2082	0.00153	0.3134:0.2627:0.1798:0.2442	.	390	Q9Y6L6	SO1B1_HUMAN	I	390	ENSP00000256958:M390I	ENSP00000256958:M390I	M	+	3	0	SLCO1B1	21246726	0.007000	0.16637	0.038000	0.18304	0.413000	0.31143	-1.430000	0.02434	-0.873000	0.04032	0.484000	0.47621	ATG		PASS	0.299	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		12	37	12	37	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40749984	40749984	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr12:40749984G>A	ENST00000298910.7	+	46	6896	c.6838G>A	c.(6838-6840)Gtt>Att	p.V2280I		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2280					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.V2280I(1)|p.V2287I(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGATAAGACTGTTAAGGTAAA	0.294																																						uc001rmg.3																			2	Substitution - Missense(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(6838-6840)GTT>ATT		leucine-rich repeat kinase 2							50.0	49.0	50.0					12																	40749984		2201	4294	6495	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40749984G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.6838G>A	12.37:g.40749984G>A	ENSP00000298910:p.Val2280Ile					LRRK2_uc009zjw.2_Missense_Mutation_p.V1118I|LRRK2_uc001rmi.2_Missense_Mutation_p.V1113I	p.V2280I	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			46	6959	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2280					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.6838G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041499	0.35989	.	.	ENSG00000188906	ENST00000298910	T	0.71817	-0.6	5.87	3.02	0.34903	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.230162	0.45126	N	0.000385	T	0.50360	0.1611	N	0.17474	0.49	0.31938	N	0.611351	B;B	0.14438	0.01;0.01	B;B	0.10450	0.005;0.005	T	0.48364	-0.9042	10	0.12430	T	0.62	.	11.7814	0.52018	0.1948:0.0:0.8052:0.0	.	2280;2280	Q17RV3;Q5S007	.;LRRK2_HUMAN	I	2280	ENSP00000298910:V2280I	ENSP00000298910:V2280I	V	+	1	0	LRRK2	39036251	0.932000	0.31603	0.709000	0.30452	0.887000	0.51463	1.371000	0.34250	0.813000	0.34350	-0.136000	0.14681	GTT		PASS	0.294	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		9	27	9	27	---	---	---	---
PUS7L	83448	broad.mit.edu	37	12	44124214	44124214	+	Missense_Mutation	SNP	C	C	T	rs566187349	byFrequency	TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr12:44124214C>T	ENST00000416848.2	-	9	2559	c.2071G>A	c.(2071-2073)Gtt>Att	p.V691I	PUS7L_ENST00000551923.1_Missense_Mutation_p.V691I|PUS7L_ENST00000344862.5_Missense_Mutation_p.V691I|PUS7L_ENST00000431332.3_Missense_Mutation_p.V378I	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	691					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.V691I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTCAGACAAACGGTAGCATAG	0.368													C|||	6	0.00119808	0.0	0.0	5008	,	,		20710	0.0		0.0	False		,,,				2504	0.0061					uc001rnq.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2071-2073)GTT>ATT		pseudouridylate synthase 7 homolog (S.							83.0	78.0	80.0					12																	44124214		2203	4300	6503	SO:0001583	missense	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44124214C>T	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.2071G>A	12.37:g.44124214C>T	ENSP00000415899:p.Val691Ile					PUS7L_uc001rnr.3_Missense_Mutation_p.V691I|PUS7L_uc001rns.3_Missense_Mutation_p.V691I|PUS7L_uc009zkb.2_Missense_Mutation_p.V378I	p.V691I	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	9	2560	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	691					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	c.2071G>A	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873760	0.33069	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000431332	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.03	1.16	0.20824	Pseudouridine synthase, catalytic domain (1);	0.320421	0.29355	N	0.012386	T	0.20780	0.0500	L	0.46947	1.48	0.47949	D	0.999553	B	0.22800	0.075	B	0.20577	0.03	T	0.05370	-1.0889	10	0.37606	T	0.19	-8.0275	10.2018	0.43089	0.0:0.7341:0.0:0.2659	.	691	Q9H0K6	PUS7L_HUMAN	I	691;691;691;378	ENSP00000415899:V691I;ENSP00000343081:V691I;ENSP00000447706:V691I;ENSP00000398497:V378I	ENSP00000343081:V691I	V	-	1	0	PUS7L	42410481	0.995000	0.38212	0.265000	0.24526	0.951000	0.60555	3.574000	0.53863	0.090000	0.17273	0.655000	0.94253	GTT		PASS	0.368	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		21	36	21	36	---	---	---	---
NCKAP1L	3071	broad.mit.edu	37	12	54901665	54901665	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr12:54901665T>G	ENST00000293373.6	+	4	414	c.335T>G	c.(334-336)aTt>aGt	p.I112S	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.I62S	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	112					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.I112S(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTCAACACCATTGATGCCTGC	0.423																																						uc001sgc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(334-336)ATT>AGT		NCK-associated protein 1-like							242.0	229.0	234.0					12																	54901665		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54901665T>G	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.335T>G	12.37:g.54901665T>G	ENSP00000293373:p.Ile112Ser					NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.I62S	p.I112S	NM_005337	NP_005328	P55160	NCKPL_HUMAN			4	414	+			112					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.335T>G	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.221824	0.79464	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.36878	1.23;1.23	5.53	5.53	0.82687	.	0.052002	0.64402	D	0.000001	T	0.52517	0.1739	M	0.68952	2.095	0.58432	D	0.999996	D	0.56746	0.977	P	0.57057	0.812	T	0.57033	-0.7880	10	0.87932	D	0	-8.6097	13.603	0.62031	0.0:0.0:0.0:1.0	.	112	P55160	NCKPL_HUMAN	S	112;62	ENSP00000293373:I112S;ENSP00000445596:I62S	ENSP00000293373:I112S	I	+	2	0	NCKAP1L	53187932	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	5.935000	0.70145	2.100000	0.63781	0.374000	0.22700	ATT		PASS	0.423	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		58	126	58	126	---	---	---	---
NEUROD4	58158	broad.mit.edu	37	12	55420899	55420899	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr12:55420899C>A	ENST00000242994.3	+	2	1054	c.676C>A	c.(676-678)Ccc>Acc	p.P226T		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	226					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P226T(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCATCTCAAGCCCCAAGTATT	0.517																																						uc001sgp.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(676-678)CCC>ACC		neurogenic differentiation 4							97.0	99.0	99.0					12																	55420899		2203	4300	6503	SO:0001583	missense	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55420899C>A	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.676C>A	12.37:g.55420899C>A	ENSP00000242994:p.Pro226Thr						p.P226T	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN			2	1054	+			226					B2RAC9	Missense_Mutation	SNP	ENST00000242994.3	37	c.676C>A	CCDS8886.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.820526	0.32145	.	.	ENSG00000123307	ENST00000242994	T	0.63913	-0.07	5.71	2.28	0.28536	Neurogenic differentiation factor, domain of unknown function (1);	0.377356	0.29515	N	0.011940	T	0.53981	0.1830	L	0.36672	1.1	0.49130	D	0.999758	B	0.18013	0.025	B	0.35353	0.201	T	0.51100	-0.8748	10	0.42905	T	0.14	-4.2269	9.5406	0.39248	0.0:0.7652:0.1386:0.0961	.	226	Q9HD90	NDF4_HUMAN	T	226	ENSP00000242994:P226T	ENSP00000242994:P226T	P	+	1	0	NEUROD4	53707166	0.988000	0.35896	1.000000	0.80357	0.997000	0.91878	0.480000	0.22244	0.801000	0.34066	0.655000	0.94253	CCC		PASS	0.517	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			42	99	42	99	---	---	---	---
OR6C75	390323	broad.mit.edu	37	12	55759054	55759054	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr12:55759054C>G	ENST00000343399.3	+	1	160	c.160C>G	c.(160-162)Cag>Gag	p.Q54E		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q54E(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TCCCCATCTGCAGACTCCCAT	0.433																																						uc010spk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(160-162)CAG>GAG		olfactory receptor, family 6, subfamily C,							153.0	152.0	152.0					12																	55759054		2203	4300	6503	SO:0001583	missense	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759054C>G		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.160C>G	12.37:g.55759054C>G	ENSP00000368987:p.Gln54Glu						p.Q54E	NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN			1	160	+			54			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000343399.3	37	c.160C>G	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	C	9.902	1.207228	0.22205	.	.	ENSG00000187857	ENST00000343399	T	0.02944	4.1	5.28	3.18	0.36537	GPCR, rhodopsin-like superfamily (1);	0.634291	0.13151	U	0.409844	T	0.06917	0.0176	M	0.79926	2.475	0.25715	N	0.985434	B	0.19331	0.035	B	0.20184	0.028	T	0.08806	-1.0704	10	0.87932	D	0	.	12.8931	0.58082	0.3633:0.6367:0.0:0.0	.	54	A6NL08	O6C75_HUMAN	E	54	ENSP00000368987:Q54E	ENSP00000368987:Q54E	Q	+	1	0	OR6C75	54045321	0.180000	0.23148	0.162000	0.22713	0.182000	0.23217	0.774000	0.26675	1.235000	0.43724	0.655000	0.94253	CAG		PASS	0.433	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			59	166	59	166	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104054499	104054499	+	Silent	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr12:104054499G>A	ENST00000388887.2	+	17	2031	c.1827G>A	c.(1825-1827)agG>agA	p.R609R	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2									p.R609R(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTCACATCAGGAGCATGGCCA	0.483																																						uc001tjw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|skin(5)	14						c.(1825-1827)AGG>AGA		stabilin 2 precursor							213.0	177.0	189.0					12																	104054499		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104054499G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1827G>A	12.37:g.104054499G>A							p.R609R	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			17	2013	+			609			Extracellular (Potential).|FAS1 2.			Silent	SNP	ENST00000388887.2	37	c.1827G>A	CCDS31888.1																																																																																				PASS	0.483	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			31	112	31	112	---	---	---	---
DDX54	79039	broad.mit.edu	37	12	113603449	113603449	+	Splice_Site	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr12:113603449C>A	ENST00000306014.5	-	14	1746	c.1719G>T	c.(1717-1719)gcG>gcT	p.A573A	DDX54_ENST00000314045.7_Splice_Site_p.A573A	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	573					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)	p.A573A(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCCCACTCACCGCCCGGGAGC	0.632																																						uc001tup.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(1717-1719)GCG>GCT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							40.0	40.0	40.0					12																	113603449		2201	4300	6501	SO:0001630	splice_region_variant	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113603449C>A	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.1719+1G>T	12.37:g.113603449C>A						DDX54_uc001tuq.3_Silent_p.A573A	p.A573A	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN			14	1747	-			573					Q86YT8|Q9BRZ1	Silent	SNP	ENST00000306014.5	37	c.1719G>T	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	C	9.978	1.227348	0.22542	.	.	ENSG00000123064	ENST00000546898	.	.	.	4.83	-1.42	0.08913	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0837	0.19954	0.1631:0.5117:0.0:0.3252	.	.	.	.	X	49	.	.	G	-	1	0	DDX54	112087832	0.340000	0.24792	0.983000	0.44433	0.612000	0.37316	-0.415000	0.07106	-0.130000	0.11599	-0.263000	0.10527	GGA		PASS	0.632	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072	Silent	9	17	9	17	---	---	---	---
COQ5	84274	broad.mit.edu	37	12	120960138	120960138	+	Silent	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr12:120960138C>T	ENST00000288532.6	-	2	271	c.231G>A	c.(229-231)aaG>aaA	p.K77K	COQ5_ENST00000445328.2_Silent_p.K77K	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	77					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)	p.K77K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATCATACTTCTTAGCCACAC	0.423																																						uc001tyn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(229-231)AAG>AAA		coenzyme Q5 homolog, methyltransferase							220.0	187.0	198.0					12																	120960138		2203	4300	6503	SO:0001819	synonymous_variant	84274				ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	g.chr12:120960138C>T	AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.231G>A	12.37:g.120960138C>T						COQ5_uc001tyo.2_5'UTR|COQ5_uc010szj.1_Silent_p.K77K	p.K77K	NM_032314	NP_115690	Q5HYK3	COQ5_HUMAN			2	251	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		77					B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Silent	SNP	ENST00000288532.6	37	c.231G>A	CCDS31912.1																																																																																				PASS	0.423	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2	NM_032314		16	106	16	106	---	---	---	---
MTUS2	23281	broad.mit.edu	37	13	29855875	29855875	+	Silent	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr13:29855875G>A	ENST00000431530.3	+	4	2767	c.2709G>A	c.(2707-2709)ctG>ctA	p.L903L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	893	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.L903L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCCAGTTCTGAAGGCATCTC	0.542																																						uc001usl.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(2707-2709)CTG>CTA		hypothetical protein LOC23281 isoform a							20.0	22.0	21.0					13																	29855875		1873	4103	5976	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29855875G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2709G>A	13.37:g.29855875G>A							p.L903L	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			4	2767	+			893			Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.2709G>A	CCDS45022.1																																																																																				PASS	0.542	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		22	12	22	12	---	---	---	---
STARD13	90627	broad.mit.edu	37	13	33704302	33704302	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr13:33704302G>A	ENST00000336934.5	-	5	628	c.512C>T	c.(511-513)tCa>tTa	p.S171L	STARD13_ENST00000255486.4_Missense_Mutation_p.S163L|STARD13_ENST00000399365.3_Missense_Mutation_p.S53L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	171					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.S171L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCCTCCCGGTGACCCATTTCT	0.567																																						uc001uuw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(511-513)TCA>TTA		StAR-related lipid transfer (START) domain							68.0	52.0	58.0					13																	33704302		2203	4300	6503	SO:0001583	missense	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33704302G>A	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.512C>T	13.37:g.33704302G>A	ENSP00000338785:p.Ser171Leu					STARD13_uc001uuu.2_Missense_Mutation_p.S163L|STARD13_uc001uuv.2_Missense_Mutation_p.S53L|STARD13_uc001uux.2_Missense_Mutation_p.S136L|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.S156L	p.S171L	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	5	638	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	171					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	c.512C>T	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168695	0.38315	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.07021	3.23;3.24;3.25	5.33	5.33	0.75918	.	0.503154	0.22492	N	0.059359	T	0.15176	0.0366	M	0.66939	2.045	0.80722	D	1	B;B;B;B	0.20459	0.045;0.016;0.021;0.022	B;B;B;B	0.26693	0.072;0.029;0.029;0.049	T	0.03025	-1.1081	10	0.38643	T	0.18	.	19.0158	0.92894	0.0:0.0:1.0:0.0	.	163;136;171;163	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	L	53;163;171;163	ENSP00000382300:S53L;ENSP00000255486:S163L;ENSP00000338785:S171L	ENSP00000255486:S163L	S	-	2	0	STARD13	32602302	1.000000	0.71417	0.751000	0.31187	0.232000	0.25224	3.901000	0.56303	2.477000	0.83638	0.655000	0.94253	TCA		PASS	0.567	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		5	37	5	37	---	---	---	---
NBEA	26960	broad.mit.edu	37	13	35923291	35923291	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr13:35923291G>T	ENST00000400445.3	+	37	6484	c.5950G>T	c.(5950-5952)Gaa>Taa	p.E1984*	NBEA_ENST00000379939.2_Nonsense_Mutation_p.E1981*|NBEA_ENST00000540320.1_Nonsense_Mutation_p.E1984*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.E1984*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1984					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.E1984*(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)		TGTTGCAAATGAAGCTGAGTT	0.358																																						uc001uvb.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(9)|large_intestine(2)	11						c.(5950-5952)GAA>TAA		neurobeachin							111.0	104.0	106.0					13																	35923291		1845	4099	5944	SO:0001587	stop_gained	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35923291G>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.5950G>T	13.37:g.35923291G>T	ENSP00000383295:p.Glu1984*					NBEA_uc010abi.2_Nonsense_Mutation_p.E640*	p.E1984*	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)	37	6156	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1984					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Nonsense_Mutation	SNP	ENST00000400445.3	37	c.5950G>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	51	17.491593	0.99887	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.4733	0.94973	0.0:0.0:1.0:0.0	.	.	.	.	X	1984;1984;1981;1984;611	.	ENSP00000308534:E1984X	E	+	1	0	NBEA	34821291	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.229000	0.95273	2.609000	0.88269	0.655000	0.94253	GAA		PASS	0.358	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		42	33	42	33	---	---	---	---
OR4Q3	441669	broad.mit.edu	37	14	20216282	20216282	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr14:20216282G>T	ENST00000331723.1	+	1	696	c.696G>T	c.(694-696)caG>caT	p.Q232H		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q232Q(1)|p.Q232H(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACTTCTGCCAGGGCCAGAACA	0.488																																						uc010tkt.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	breast(3)	3						c.(694-696)CAG>CAT		olfactory receptor, family 4, subfamily Q,							158.0	141.0	147.0					14																	20216282		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216282G>T	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.696G>T	14.37:g.20216282G>T	ENSP00000330049:p.Gln232His						p.Q232H	NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	696	+	all_cancers(95;0.00108)		232			Cytoplasmic (Potential).		Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.696G>T	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	3.083	-0.188513	0.06299	.	.	ENSG00000182652	ENST00000331723	T	0.00224	8.51	4.1	-0.294	0.12831	GPCR, rhodopsin-like superfamily (1);	0.669254	0.12156	N	0.494394	T	0.00144	0.0004	L	0.47078	1.49	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.34750	-0.9816	10	0.72032	D	0.01	.	3.9188	0.09234	0.1701:0.0:0.2874:0.5425	.	232	Q8NH05	OR4Q3_HUMAN	H	232	ENSP00000330049:Q232H	ENSP00000330049:Q232H	Q	+	3	2	OR4Q3	19286122	0.001000	0.12720	0.780000	0.31762	0.051000	0.14879	0.016000	0.13377	0.337000	0.23665	0.509000	0.49947	CAG		PASS	0.488	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			45	125	45	125	---	---	---	---
OR4N2	390429	broad.mit.edu	37	14	20296286	20296286	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr14:20296286G>T	ENST00000315947.1	+	1	679	c.679G>T	c.(679-681)Ggg>Tgg	p.G227W	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G227W(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCGCATACGAGGGTCTTCTTC	0.488																																						uc010tkv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(679-681)GGG>TGG		olfactory receptor, family 4, subfamily N,							109.0	110.0	110.0					14																	20296286		2203	4300	6503	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296286G>T		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.679G>T	14.37:g.20296286G>T	ENSP00000319601:p.Gly227Trp						p.G227W	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	679	+	all_cancers(95;0.00108)		227			Cytoplasmic (Potential).		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.679G>T	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	8.920	0.960884	0.18583	.	.	ENSG00000176294	ENST00000315947	T	0.00130	8.69	4.52	0.975	0.19721	GPCR, rhodopsin-like superfamily (1);	0.258733	0.27673	N	0.018334	T	0.00144	0.0004	N	0.22421	0.69	0.09310	N	1	D	0.59767	0.986	P	0.54856	0.762	T	0.51180	-0.8738	10	0.72032	D	0.01	-2.4266	4.0131	0.09631	0.3233:0.1824:0.4943:0.0	.	227	Q8NGD1	OR4N2_HUMAN	W	227	ENSP00000319601:G227W	ENSP00000319601:G227W	G	+	1	0	OR4N2	19366126	0.000000	0.05858	0.004000	0.12327	0.014000	0.08584	-0.398000	0.07259	0.451000	0.26802	0.585000	0.79938	GGG		PASS	0.488	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			38	109	38	109	---	---	---	---
ACTN1	87	broad.mit.edu	37	14	69346758	69346758	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr14:69346758T>C	ENST00000193403.6	-	18	2584	c.2201A>G	c.(2200-2202)cAg>cGg	p.Q734R	ACTN1_ENST00000438964.2_Missense_Mutation_p.Q734R|ACTN1_ENST00000394419.4_Missense_Mutation_p.Q734R|ACTN1_ENST00000538545.2_Missense_Mutation_p.Q734R|ACTN1_ENST00000376839.3_Missense_Mutation_p.Q669R	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	734					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)	p.Q734R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGTCAGGATCTGGTTCTCTAC	0.607																																						uc001xkl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2200-2202)CAG>CGG		actinin, alpha 1 isoform b							114.0	102.0	106.0					14																	69346758		2203	4300	6503	SO:0001583	missense	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69346758T>C	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.2201A>G	14.37:g.69346758T>C	ENSP00000193403:p.Gln734Arg					ACTN1_uc001xkk.2_Missense_Mutation_p.Q330R|ACTN1_uc010ttb.1_Missense_Mutation_p.Q669R|ACTN1_uc001xkm.2_Missense_Mutation_p.Q734R|ACTN1_uc001xkn.2_Missense_Mutation_p.Q734R|ACTN1_uc010ttc.1_Missense_Mutation_p.Q319R	p.Q734R	NM_001102	NP_001093	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	18	2511	-			734					B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	c.2201A>G	CCDS9792.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.4|27.4	4.831849|4.831849	0.91036|0.91036	.|.	.|.	ENSG00000072110|ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545;ENST00000544964|ENST00000555075	T;T;T;T;T;T|.	0.46451|.	0.87;0.87;0.87;0.87;0.87;0.87|.	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78735|0.78735	0.4330|0.4330	M|M	0.85945|0.85945	2.785|2.785	0.80722|0.80722	D|D	1|1	P;B;P;B;P|.	0.41524|.	0.753;0.037;0.543;0.082;0.516|.	P;B;B;B;B|.	0.55455|.	0.776;0.224;0.195;0.235;0.404|.	T|T	0.81632|0.81632	-0.0845|-0.0845	10|5	0.59425|.	D|.	0.04|.	.|.	15.1922|15.1922	0.73053|0.73053	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	365;734;734;734;381|.	B7Z2W3;P12814-2;Q1HE25;P12814;B4DFY0|.	.;.;.;ACTN1_HUMAN;.|.	R|G	734;734;734;669;734;263|120	ENSP00000193403:Q734R;ENSP00000377941:Q734R;ENSP00000414272:Q734R;ENSP00000366035:Q669R;ENSP00000439828:Q734R;ENSP00000444422:Q263R|.	ENSP00000193403:Q734R|.	Q|R	-|-	2|1	0|2	ACTN1|ACTN1	68416511|68416511	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.868000|7.868000	0.87116|0.87116	2.168000|2.168000	0.68352|0.68352	0.533000|0.533000	0.62120|0.62120	CAG|AGA		PASS	0.607	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		16	69	16	69	---	---	---	---
ADAM20	8748	broad.mit.edu	37	14	70990703	70990703	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr14:70990703C>G	ENST00000256389.3	-	2	1166	c.922G>C	c.(922-924)Gat>Cat	p.D308H	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	258	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D308H(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GTCCATATATCAATTCCAGTC	0.348																																						uc001xme.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(922-924)GAT>CAT		ADAM metallopeptidase domain 20 preproprotein							117.0	96.0	103.0					14																	70990703		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70990703C>G	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.922G>C	14.37:g.70990703C>G	ENSP00000256389:p.Asp308His						p.D308H	NM_003814	NP_003805	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	1167	-			258			Peptidase M12B.|Extracellular (Potential).		Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.922G>C	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061588	0.36373	.	.	ENSG00000134007	ENST00000256389	T	0.64803	-0.12	3.87	2.96	0.34315	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.198390	0.23528	U	0.047216	T	0.62073	0.2398	L	0.29908	0.895	0.09310	N	1	P	0.40681	0.727	P	0.53266	0.722	T	0.56836	-0.7913	10	0.87932	D	0	.	11.335	0.49498	0.1822:0.8178:0.0:0.0	.	258	O43506	ADA20_HUMAN	H	308	ENSP00000256389:D308H	ENSP00000256389:D308H	D	-	1	0	ADAM20	70060456	0.999000	0.42202	0.010000	0.14722	0.000000	0.00434	4.386000	0.59620	0.935000	0.37341	-0.321000	0.08615	GAT		PASS	0.348	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			31	61	31	61	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75269278	75269278	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr14:75269278C>G	ENST00000552421.1	+	5	2426	c.2302C>G	c.(2302-2304)Caa>Gaa	p.Q768E	YLPM1_ENST00000238571.3_Missense_Mutation_p.Q1279E|YLPM1_ENST00000325680.7_Missense_Mutation_p.Q1474E			P49750	YLPM1_HUMAN	YLP motif containing 1	1279					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.Q1474E(1)|p.Q1279E(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGAACAGCTTCAAAAGATGAA	0.368																																						uc001xqj.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(4420-4422)CAA>GAA		YLP motif containing 1							76.0	72.0	73.0					14																	75269278		1837	4096	5933	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75269278C>G	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.2302C>G	14.37:g.75269278C>G	ENSP00000447921:p.Gln768Glu					YLPM1_uc001xql.3_RNA	p.Q1474E	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	6	4544	+			1279					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.4420C>G		.	.	.	.	.	.	.	.	.	.	C	15.11	2.734863	0.48939	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000011	T	0.52125	0.1715	L	0.51422	1.61	0.36088	D	0.843227	P	0.36712	0.566	B	0.35688	0.208	T	0.59161	-0.7506	9	0.27785	T	0.31	-11.3796	15.4391	0.75168	0.0:0.8616:0.1384:0.0	.	1474	P49750-4	.	E	768;1474;1279;1187	.	ENSP00000238571:Q1279E	Q	+	1	0	YLPM1	74339031	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.413000	0.52686	2.724000	0.93272	0.551000	0.68910	CAA		PASS	0.368	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		6	91	6	91	---	---	---	---
VRK1	7443	broad.mit.edu	37	14	97312478	97312478	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr14:97312478A>T	ENST00000216639.3	+	4	412	c.263A>T	c.(262-264)cAa>cTa	p.Q88L		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	88	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Golgi disassembly (GO:0090166)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-T3 phosphorylation (GO:0072355)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi stack (GO:0005795)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H3-S10 specific) (GO:0035175)|histone kinase activity (H3-T3 specific) (GO:0072354)|nucleosomal histone binding (GO:0031493)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q88L(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		AAGTTCTACCAACGAGCTGCA	0.328																																						uc001yft.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|stomach(1)	2						c.(262-264)CAA>CTA		vaccinia related kinase 1							88.0	87.0	87.0					14																	97312478		2203	4296	6499	SO:0001583	missense	7443					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:97312478A>T	AB000449	CCDS9947.1	14q32.2	2012-07-05			ENSG00000100749	ENSG00000100749			12718	protein-coding gene	gene with protein product		602168				9344656	Standard	XM_006720247		Approved		uc001yft.3	Q99986	OTTHUMG00000171459	ENST00000216639.3:c.263A>T	14.37:g.97312478A>T	ENSP00000216639:p.Gln88Leu						p.Q88L	NM_003384	NP_003375	Q99986	VRK1_HUMAN		COAD - Colon adenocarcinoma(157;0.234)	4	369	+		Melanoma(154;0.155)	88			Protein kinase.		Q3SYL2	Missense_Mutation	SNP	ENST00000216639.3	37	c.263A>T	CCDS9947.1	.	.	.	.	.	.	.	.	.	.	A	12.17	1.858652	0.32791	.	.	ENSG00000100749	ENST00000216639	T	0.49720	0.77	6.16	6.16	0.99307	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.081322	0.85682	D	0.000000	T	0.42426	0.1202	L	0.55990	1.75	0.46061	D	0.99884	B	0.27192	0.171	B	0.23275	0.045	T	0.38243	-0.9670	10	0.52906	T	0.07	-21.106	10.1723	0.42917	0.7563:0.0:0.0:0.2437	.	88	Q99986	VRK1_HUMAN	L	88	ENSP00000216639:Q88L	ENSP00000216639:Q88L	Q	+	2	0	VRK1	96382231	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.215000	0.58534	2.367000	0.80283	0.528000	0.53228	CAA		PASS	0.328	VRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413520.1	NM_003384		57	96	57	96	---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25959388	25959388	+	Splice_Site	SNP	C	C	A	rs114091283	byFrequency	TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr15:25959388C>A	ENST00000356865.6	-	10	1888	c.1777G>T	c.(1777-1779)Gtg>Ttg	p.V593L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	593					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.V593L(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTCACCCTCACCTGCAAGAGA	0.587																																						uc010ayu.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(1777-1779)GTG>TTG		ATPase, class V, type 10A							27.0	31.0	29.0					15																	25959388		2190	4272	6462	SO:0001630	splice_region_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25959388C>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1777-1G>T	15.37:g.25959388C>A							p.V593L	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	10	1883	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	593			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.1777G>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873098	0.72180	.	.	ENSG00000206190	ENST00000356865	T	0.12465	2.68	4.41	4.41	0.53225	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.190098	0.45361	D	0.000378	T	0.16214	0.0390	L	0.49455	1.56	0.51767	D	0.999936	P	0.39737	0.685	P	0.45406	0.479	T	0.03354	-1.1045	10	0.11182	T	0.66	-27.8418	11.742	0.51799	0.0:0.9147:0.0:0.0853	.	593	O60312	AT10A_HUMAN	L	593	ENSP00000349325:V593L	ENSP00000349325:V593L	V	-	1	0	ATP10A	23510481	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	4.044000	0.57361	2.301000	0.77427	0.655000	0.94253	GTG		PASS	0.587	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	Missense_Mutation	19	35	19	35	---	---	---	---
TGM5	9333	broad.mit.edu	37	15	43525446	43525446	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr15:43525446G>C	ENST00000220420.5	-	13	2113	c.2106C>G	c.(2104-2106)agC>agG	p.S702R	TGM5_ENST00000349114.4_Missense_Mutation_p.S620R	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	702					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.S702R(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TAAACTTGTTGCTTCTCATAT	0.448																																						uc001zrd.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2104-2106)AGC>AGG		transglutaminase 5 isoform 1	L-Glutamine(DB00130)						214.0	180.0	191.0					15																	43525446		2203	4299	6502	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43525446G>C	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.2106C>G	15.37:g.43525446G>C	ENSP00000220420:p.Ser702Arg					TGM5_uc001zrc.1_Missense_Mutation_p.S359R|TGM5_uc001zre.1_Missense_Mutation_p.S620R	p.S702R	NM_201631	NP_963925	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	13	2114	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	702					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.2106C>G	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203846	0.58234	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.38401	1.14;1.14	6.03	2.67	0.31697	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.318031	0.34088	N	0.004280	T	0.59649	0.2209	M	0.86651	2.83	0.33794	D	0.625868	D;D	0.89917	0.999;1.0	D;D	0.83275	0.983;0.996	T	0.69752	-0.5060	10	0.66056	D	0.02	-33.2316	7.6795	0.28505	0.4054:0.0:0.5946:0.0	.	620;702	O43548-2;O43548	.;TGM5_HUMAN	R	702;620;701	ENSP00000220420:S702R;ENSP00000220419:S620R	ENSP00000220420:S702R	S	-	3	2	TGM5	41312738	0.989000	0.36119	0.998000	0.56505	0.768000	0.43524	0.936000	0.28938	0.613000	0.30089	-0.345000	0.07892	AGC		PASS	0.448	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		16	34	16	34	---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48056400	48056400	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr15:48056400G>C	ENST00000316364.5	+	11	1434	c.995G>C	c.(994-996)aGc>aCc	p.S332T	SEMA6D_ENST00000537942.1_Missense_Mutation_p.S332T|SEMA6D_ENST00000355997.3_Missense_Mutation_p.S332T|SEMA6D_ENST00000354744.4_Missense_Mutation_p.S332T|SEMA6D_ENST00000536845.2_Missense_Mutation_p.S332T|SEMA6D_ENST00000389432.2_Missense_Mutation_p.S332T|SEMA6D_ENST00000389433.2_Missense_Mutation_p.S332T|SEMA6D_ENST00000358066.4_Missense_Mutation_p.S332T|SEMA6D_ENST00000389425.3_Missense_Mutation_p.S332T|SEMA6D_ENST00000389428.3_Missense_Mutation_p.S332T|SEMA6D_ENST00000558816.1_Missense_Mutation_p.S332T|SEMA6D_ENST00000558014.1_Missense_Mutation_p.S332T	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	332	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.S332T(2)|p.S332N(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGTGCATTTAGCATGGATGAC	0.458																																						uc010bek.2																			3	Substitution - Missense(3)		lung(2)|large_intestine(1)	skin(3)|breast(1)	4						c.(994-996)AGC>ACC		semaphorin 6D isoform 4 precursor							124.0	113.0	117.0					15																	48056400		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48056400G>C	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.995G>C	15.37:g.48056400G>C	ENSP00000324857:p.Ser332Thr					SEMA6D_uc001zvw.2_Missense_Mutation_p.S332T|SEMA6D_uc001zvx.1_Missense_Mutation_p.S332T|SEMA6D_uc001zvy.2_Missense_Mutation_p.S332T|SEMA6D_uc001zvz.2_Missense_Mutation_p.S332T|SEMA6D_uc001zwa.2_Missense_Mutation_p.S332T|SEMA6D_uc001zwb.2_Missense_Mutation_p.S332T|SEMA6D_uc001zwc.2_Missense_Mutation_p.S332T	p.S332T	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	11	1355	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	332			Sema.|Extracellular (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.995G>C	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.614616	0.28712	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76	6.08	6.08	0.98989	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.081660	0.85682	D	0.000000	T	0.21307	0.0513	L	0.31207	0.915	0.53688	D	0.999978	B;B;B;B;B	0.31790	0.34;0.002;0.002;0.002;0.178	B;B;B;B;B	0.32928	0.155;0.013;0.008;0.02;0.108	T	0.03608	-1.1020	10	0.22706	T	0.39	.	16.0688	0.80909	0.0:0.1332:0.8668:0.0	.	332;332;332;332;332	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	T	332	ENSP00000442040:S332T;ENSP00000446152:S332T;ENSP00000324857:S332T;ENSP00000374084:S332T;ENSP00000374083:S332T;ENSP00000346786:S332T;ENSP00000350770:S332T;ENSP00000374079:S332T;ENSP00000348276:S332T;ENSP00000374076:S332T	ENSP00000324857:S332T	S	+	2	0	SEMA6D	45843692	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	2.715000	0.47210	2.894000	0.99253	0.655000	0.94253	AGC		PASS	0.458	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		13	130	13	130	---	---	---	---
GNB5	10681	broad.mit.edu	37	15	52420404	52420404	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr15:52420404C>T	ENST00000261837.7	-	10	966	c.901G>A	c.(901-903)Gat>Aat	p.D301N	GNB5_ENST00000396335.4_Missense_Mutation_p.D189N|GNB5_ENST00000358784.7_Missense_Mutation_p.D259N|CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000559348.1_5'UTR	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	301					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)	p.D301N(1)		large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GTAGCGTCATCTGACCCTGAA	0.423																																						uc002abt.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(901-903)GAT>AAT		guanine nucleotide-binding protein, beta-5							116.0	106.0	109.0					15																	52420404		2195	4293	6488	SO:0001583	missense	10681					heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr15:52420404C>T	AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"""WD repeat domain containing"""	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.901G>A	15.37:g.52420404C>T	ENSP00000261837:p.Asp301Asn					GNB5_uc002abr.1_Missense_Mutation_p.D259N|GNB5_uc002abs.1_Missense_Mutation_p.D189N	p.D301N	NM_016194	NP_057278	O14775	GBB5_HUMAN		all cancers(107;0.0163)	10	966	-			301			WD 5.		B2RBR5|Q9HAU9|Q9UFT3	Missense_Mutation	SNP	ENST00000261837.7	37	c.901G>A	CCDS10149.1	.	.	.	.	.	.	.	.	.	.	C	35	5.595295	0.96602	.	.	ENSG00000069966	ENST00000261837;ENST00000396335;ENST00000544480;ENST00000358784	T	0.60920	0.15	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.089614	0.85682	N	0.000000	T	0.77025	0.4070	M	0.65975	2.015	0.80722	D	1	P;D	0.89917	0.562;1.0	P;D	0.97110	0.468;1.0	T	0.76127	-0.3073	10	0.72032	D	0.01	-19.8555	20.8794	0.99867	0.0:1.0:0.0:0.0	.	301;189	O14775;O14775-3	GBB5_HUMAN;.	N	301;259;99;189	ENSP00000261837:D301N	ENSP00000261837:D301N	D	-	1	0	GNB5	50207696	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.158000	0.77470	2.941000	0.99782	0.655000	0.94253	GAT		PASS	0.423	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1			5	60	5	60	---	---	---	---
PRTG	283659	broad.mit.edu	37	15	55932011	55932011	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr15:55932011A>T	ENST00000389286.4	-	13	2200	c.2153T>A	c.(2152-2154)aTg>aAg	p.M718K		NM_173814.4	NP_776175.2			protogenin									p.M718K(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AGGAGGGACCATGCGATCACG	0.433																																						uc002adg.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(2152-2154)ATG>AAG		protogenin precursor							142.0	155.0	151.0					15																	55932011		2051	4172	6223	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55932011A>T	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2153T>A	15.37:g.55932011A>T	ENSP00000373937:p.Met718Lys						p.M718K	NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	13	2201	-			718						Missense_Mutation	SNP	ENST00000389286.4	37	c.2153T>A	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	A	10.20	1.285822	0.23478	.	.	ENSG00000166450	ENST00000389286	T	0.50277	0.75	5.81	3.54	0.40534	Fibronectin, type III (1);	0.302664	0.37530	N	0.002059	T	0.29389	0.0732	L	0.29908	0.895	0.80722	D	1	B	0.23442	0.085	B	0.19666	0.026	T	0.06552	-1.0820	10	0.07030	T	0.85	-12.5337	9.157	0.36998	0.8544:0.0:0.1456:0.0	.	718	Q2VWP7	PRTG_HUMAN	K	718	ENSP00000373937:M718K	ENSP00000373937:M718K	M	-	2	0	PRTG	53719303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.366000	0.66122	0.487000	0.27698	0.533000	0.62120	ATG		PASS	0.433	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		35	45	35	45	---	---	---	---
TEX9	374618	broad.mit.edu	37	15	56680680	56680680	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr15:56680680C>G	ENST00000352903.2	+	5	298	c.274C>G	c.(274-276)Cca>Gca	p.P92A	TEX9_ENST00000561221.2_Missense_Mutation_p.P92A|TEX9_ENST00000537232.1_Missense_Mutation_p.P17A|TEX9_ENST00000558083.2_Missense_Mutation_p.P17A	NM_198524.1	NP_940926.1	Q8N6V9	TEX9_HUMAN	testis expressed 9	92								p.P92A(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		AGGTCTGTTACCATCTGAAGG	0.308																																						uc002adp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(274-276)CCA>GCA		testis expressed 9							101.0	102.0	102.0					15																	56680680		2193	4291	6484	SO:0001583	missense	374618							g.chr15:56680680C>G	BC028119	CCDS10157.1, CCDS66776.1	15q21.3	2007-03-13	2007-03-13		ENSG00000151575	ENSG00000151575			29585	protein-coding gene	gene with protein product			"""testis expressed sequence 9"""				Standard	XM_005254361		Approved		uc002adp.3	Q8N6V9	OTTHUMG00000132035	ENST00000352903.2:c.274C>G	15.37:g.56680680C>G	ENSP00000342169:p.Pro92Ala					TEX9_uc002ado.1_Missense_Mutation_p.P92A|TEX9_uc010ugl.1_Missense_Mutation_p.P17A|TEX9_uc002adq.1_Missense_Mutation_p.P17A	p.P92A	NM_198524	NP_940926	Q8N6V9	TEX9_HUMAN		all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)	5	279	+			92					B4DH73	Missense_Mutation	SNP	ENST00000352903.2	37	c.274C>G	CCDS10157.1	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.375200	0.01214	.	.	ENSG00000151575	ENST00000352903;ENST00000537232	.	.	.	4.39	2.04	0.26737	.	1.167830	0.06389	N	0.716786	T	0.17109	0.0411	N	0.08118	0	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.26883	-1.0090	9	0.08179	T	0.78	-0.0105	6.136	0.20233	0.0:0.2262:0.0:0.7738	.	17;92	B4DH73;Q8N6V9	.;TEX9_HUMAN	A	92;17	.	ENSP00000342169:P92A	P	+	1	0	TEX9	54467972	0.014000	0.17966	0.021000	0.16686	0.233000	0.25261	0.817000	0.27281	0.281000	0.22233	-0.302000	0.09304	CCA		PASS	0.308	TEX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255048.2	NM_198524		10	94	10	94	---	---	---	---
SPESP1	246777	broad.mit.edu	37	15	69238793	69238793	+	Missense_Mutation	SNP	G	G	T	rs554895221	byFrequency	TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr15:69238793G>T	ENST00000310673.3	+	2	1074	c.920G>T	c.(919-921)aGa>aTa	p.R307I	NOX5_ENST00000448182.3_Intron|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	307					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)		p.R307I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						TGTAATTCTAGATCTAAACTC	0.294																																						uc002arn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(919-921)AGA>ATA		sperm equatorial segment protein 1 precursor							53.0	59.0	57.0					15																	69238793		2196	4295	6491	SO:0001583	missense	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238793G>T	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.920G>T	15.37:g.69238793G>T	ENSP00000312284:p.Arg307Ile					NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron	p.R307I	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN			2	1048	+			307					Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	37	c.920G>T	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.091022	0.55968	.	.	ENSG00000258484	ENST00000310673	T	0.25414	1.8	5.33	4.18	0.49190	.	0.249612	0.27826	N	0.017684	T	0.33933	0.0880	L	0.34521	1.04	0.23716	N	0.997031	D	0.76494	0.999	D	0.74023	0.982	T	0.06698	-1.0812	10	0.87932	D	0	-18.1246	6.8056	0.23777	0.1531:0.0:0.8469:0.0	.	307	Q6UW49	SPESP_HUMAN	I	307	ENSP00000312284:R307I	ENSP00000312284:R307I	R	+	2	0	SPESP1	67025847	0.554000	0.26522	0.018000	0.16275	0.735000	0.41995	2.317000	0.43770	2.651000	0.90000	0.655000	0.94253	AGA		PASS	0.294	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		23	70	23	70	---	---	---	---
ADAMTS7	11173	broad.mit.edu	37	15	79051886	79051886	+	Silent	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr15:79051886G>A	ENST00000388820.4	-	24	5148	c.4938C>T	c.(4936-4938)tgC>tgT	p.C1646C		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1646	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C1646C(4)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCAGCGTCTCGCAGAACCCGA	0.701																																						uc002bej.3																			4	Substitution - coding silent(4)		prostate(2)|lung(1)|kidney(1)		0						c.(4936-4938)TGC>TGT		ADAM metallopeptidase with thrombospondin type 1							10.0	11.0	11.0					15																	79051886		2150	4223	6373	SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79051886G>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4938C>T	15.37:g.79051886G>A							p.C1646C	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			24	5149	-			1646			PLAC.		Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.4938C>T	CCDS32303.1																																																																																				PASS	0.701	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	20	3	20	---	---	---	---
SLC28A1	9154	broad.mit.edu	37	15	85438313	85438313	+	Silent	SNP	C	C	T	rs371921369|rs2277576		TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr15:85438313C>T	ENST00000286749.3	+	5	510	c.420C>T	c.(418-420)ctC>ctT	p.L140L	SLC28A1_ENST00000538177.1_Silent_p.L140L|SLC28A1_ENST00000537703.1_Silent_p.L62L|SLC28A1_ENST00000537216.1_Silent_p.L140L|SLC28A1_ENST00000537624.1_Silent_p.L140L|SLC28A1_ENST00000338602.2_Silent_p.L140L|SLC28A1_ENST00000394573.1_Silent_p.L140L			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	140			L -> LV (in A). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9124315}.		nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)	p.L140L(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	GGAGGTTTCTCAAGCCTCAGG	0.637																																						uc002blg.2																			2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)	3						c.(418-420)CTC>CTT		solute carrier family 28, member 1 isoform 1							45.0	47.0	47.0					15																	85438313		2203	4298	6501	SO:0001819	synonymous_variant	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85438313C>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.420C>T	15.37:g.85438313C>T						SLC28A1_uc010upd.1_Silent_p.L62L|SLC28A1_uc010bnb.2_Silent_p.L140L|SLC28A1_uc010upe.1_Silent_p.L140L|SLC28A1_uc010upf.1_Silent_p.L140L|SLC28A1_uc010upg.1_Silent_p.L140L|SLC28A1_uc002blf.2_Silent_p.L140L	p.L140L	NM_004213	NP_004204	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	622	+			140		L -> LV (in A).			A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Silent	SNP	ENST00000286749.3	37	c.420C>T	CCDS10334.1																																																																																				PASS	0.637	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			13	60	13	60	---	---	---	---
SLC28A1	9154	broad.mit.edu	37	15	85438320	85438320	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr15:85438320C>T	ENST00000286749.3	+	5	517	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	SLC28A1_ENST00000538177.1_Nonsense_Mutation_p.Q143*|SLC28A1_ENST00000537703.1_Nonsense_Mutation_p.Q65*|SLC28A1_ENST00000537216.1_Nonsense_Mutation_p.Q143*|SLC28A1_ENST00000537624.1_Nonsense_Mutation_p.Q143*|SLC28A1_ENST00000338602.2_Nonsense_Mutation_p.Q143*|SLC28A1_ENST00000394573.1_Nonsense_Mutation_p.Q143*			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	143					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)	p.Q143*(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	TCTCAAGCCTCAGGGCCATCC	0.637																																						uc002blg.2																			2	Substitution - Nonsense(2)		lung(2)	skin(2)|ovary(1)	3						c.(427-429)CAG>TAG		solute carrier family 28, member 1 isoform 1							44.0	47.0	46.0					15																	85438320		2203	4299	6502	SO:0001587	stop_gained	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85438320C>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.427C>T	15.37:g.85438320C>T	ENSP00000286749:p.Gln143*					SLC28A1_uc010upd.1_Nonsense_Mutation_p.Q65*|SLC28A1_uc010bnb.2_Nonsense_Mutation_p.Q143*|SLC28A1_uc010upe.1_Nonsense_Mutation_p.Q143*|SLC28A1_uc010upf.1_Nonsense_Mutation_p.Q143*|SLC28A1_uc010upg.1_Nonsense_Mutation_p.Q143*|SLC28A1_uc002blf.2_Nonsense_Mutation_p.Q143*	p.Q143*	NM_004213	NP_004204	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	629	+			143					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Nonsense_Mutation	SNP	ENST00000286749.3	37	c.427C>T	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891166	0.72524	.	.	ENSG00000156222	ENST00000338602;ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573;ENST00000537703	.	.	.	4.58	2.64	0.31445	.	0.545756	0.18304	N	0.145308	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-0.4684	5.5512	0.17091	0.1956:0.7028:0.0:0.1016	.	.	.	.	X	143;143;143;143;143;143;65	.	ENSP00000286749:Q143X	Q	+	1	0	SLC28A1	83239324	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	0.409000	0.21082	0.619000	0.30197	0.655000	0.94253	CAG		PASS	0.637	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			13	59	13	59	---	---	---	---
HN1L	90861	broad.mit.edu	37	16	1748833	1748833	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr16:1748833G>T	ENST00000248098.3	+	5	464	c.407G>T	c.(406-408)gGa>gTa	p.G136V	HN1L_ENST00000569765.1_3'UTR|HN1L_ENST00000382710.4_Missense_Mutation_p.G124V|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000562684.1_Missense_Mutation_p.G164V|HN1L_ENST00000561516.1_3'UTR|HN1L_ENST00000382711.5_Missense_Mutation_p.G120V	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	136						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G136V(1)		endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						ATCCCGGCTGGAGCAGAGCCA	0.597																																						uc002cmg.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(406-408)GGA>GTA		hematological and neurological expressed 1-like							40.0	45.0	43.0					16																	1748833		2198	4300	6498	SO:0001583	missense	90861					cytoplasm|nucleus		g.chr16:1748833G>T	AK023154	CCDS10441.1	16p13.3	2006-12-13	2006-12-13	2006-12-13	ENSG00000206053	ENSG00000206053			14137	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 34"""	C16orf34		15094197	Standard	NM_144570		Approved	FLJ13092, L11, KIAA1426	uc002cmg.3	Q9H910	OTTHUMG00000047859	ENST00000248098.3:c.407G>T	16.37:g.1748833G>T	ENSP00000248098:p.Gly136Val					HN1L_uc010uvi.1_Missense_Mutation_p.G164V|HN1L_uc010brt.2_RNA|HN1L_uc010bru.2_3'UTR|HN1L_uc010uvj.1_3'UTR|HN1L_uc010uvk.1_Missense_Mutation_p.G123V	p.G136V	NM_144570	NP_653171	Q9H910	HN1L_HUMAN			5	443	+			136					B1AJY2|Q6EIC7	Missense_Mutation	SNP	ENST00000248098.3	37	c.407G>T	CCDS10441.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.485960	0.26686	.	.	ENSG00000206053	ENST00000248098;ENST00000382711;ENST00000382710	T;T	0.46063	0.88;0.88	6.17	4.13	0.48395	.	0.991162	0.08211	N	0.980738	T	0.34193	0.0889	L	0.36672	1.1	0.09310	N	0.999998	B;B;B	0.26400	0.05;0.148;0.095	B;B;B	0.26416	0.037;0.053;0.069	T	0.20505	-1.0273	10	0.28530	T	0.3	-44.2795	9.0573	0.36414	0.0777:0.1478:0.7745:0.0	.	124;164;136	A6NGP5;B4DLH4;Q9H910	.;.;HN1L_HUMAN	V	136;164;124	ENSP00000248098:G136V;ENSP00000372157:G124V	ENSP00000248098:G136V	G	+	2	0	HN1L	1688834	0.825000	0.29262	0.009000	0.14445	0.002000	0.02628	2.442000	0.44873	1.631000	0.50456	0.655000	0.94253	GGA		PASS	0.597	HN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109086.2	NM_144570		12	38	12	38	---	---	---	---
RPL3L	6123	broad.mit.edu	37	16	1997365	1997365	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr16:1997365A>G	ENST00000268661.7	-	5	612	c.518T>C	c.(517-519)tTc>tCc	p.F173S		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	173					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.F173S(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CTTCTGCCGGAAGGGCAGCAG	0.657																																						uc002cnh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(517-519)TTC>TCC		ribosomal protein L3-like							46.0	39.0	41.0					16																	1997365		2196	4299	6495	SO:0001583	missense	6123				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr16:1997365A>G	U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.518T>C	16.37:g.1997365A>G	ENSP00000268661:p.Phe173Ser						p.F173S	NM_005061	NP_005052	Q92901	RL3L_HUMAN			5	565	-			173						Missense_Mutation	SNP	ENST00000268661.7	37	c.518T>C	CCDS10450.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.789432	0.49997	.	.	ENSG00000140986	ENST00000268661	T	0.21932	1.98	5.32	5.32	0.75619	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.131690	0.56097	D	0.000025	T	0.16514	0.0397	N	0.17082	0.46	0.37198	D	0.904264	B	0.27286	0.174	B	0.30943	0.122	T	0.13818	-1.0495	10	0.72032	D	0.01	-8.8322	14.4683	0.67499	1.0:0.0:0.0:0.0	.	173	Q92901	RL3L_HUMAN	S	173	ENSP00000268661:F173S	ENSP00000268661:F173S	F	-	2	0	RPL3L	1937366	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.298000	0.78815	2.007000	0.58848	0.533000	0.62120	TTC		PASS	0.657	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		6	17	6	17	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	9862767	9862767	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr16:9862767G>T	ENST00000396573.2	-	13	2845	c.2536C>A	c.(2536-2538)Cgc>Agc	p.R846S	GRIN2A_ENST00000396575.2_Missense_Mutation_p.R846S|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R846S|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R689S|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R846S|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R846S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	846					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R846S(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AAACAGAAGCGCAGCTTCCAG	0.582																																						uc002czo.3																			1	Substitution - Missense(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(2536-2538)CGC>AGC		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						88.0	81.0	83.0					16																	9862767		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9862767G>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2536C>A	16.37:g.9862767G>T	ENSP00000379818:p.Arg846Ser					GRIN2A_uc010uym.1_Missense_Mutation_p.R846S|GRIN2A_uc010uyn.1_Missense_Mutation_p.R689S|GRIN2A_uc002czr.3_Missense_Mutation_p.R846S	p.R846S	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			12	3084	-			846			Cytoplasmic (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.2536C>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090156	0.76756	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.26660	1.78;1.72;1.8;1.78;1.78	4.3	3.18	0.36537	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49338	0.1551	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.87578	0.997;0.998;0.993	T	0.52358	-0.8586	9	.	.	.	.	11.0876	0.48097	0.0:0.0:0.7394:0.2606	.	689;846;846	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	S	846;846;689;846;846	ENSP00000379818:R846S;ENSP00000385872:R846S;ENSP00000441572:R689S;ENSP00000332549:R846S;ENSP00000379820:R846S	.	R	-	1	0	GRIN2A	9770268	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	2.067000	0.41461	2.080000	0.62538	0.563000	0.77884	CGC		PASS	0.582	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			21	78	21	78	---	---	---	---
GP2	2813	broad.mit.edu	37	16	20334224	20334224	+	Missense_Mutation	SNP	C	C	A	rs369963819		TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr16:20334224C>A	ENST00000381362.4	-	5	698	c.622G>T	c.(622-624)Ggc>Tgc	p.G208C	GP2_ENST00000341642.5_Missense_Mutation_p.G58C|GP2_ENST00000302555.5_Missense_Mutation_p.G205C|GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381360.5_Missense_Mutation_p.G61C	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	208	EGF-like.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.G205C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGAAACAGCCCCAGGTGCTG	0.592																																						uc002dgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(622-624)GGC>TGC		zymogen granule membrane glycoprotein 2 isoform							96.0	75.0	82.0					16																	20334224		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20334224C>A	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.622G>T	16.37:g.20334224C>A	ENSP00000370767:p.Gly208Cys					GP2_uc002dgw.2_Missense_Mutation_p.G205C|GP2_uc002dgx.2_Missense_Mutation_p.G61C|GP2_uc002dgy.2_Missense_Mutation_p.G58C	p.G208C	NM_001007240	NP_001007241	P55259	GP2_HUMAN			5	705	-			208			EGF-like.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.622G>T	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784320	0.49997	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.99338	-5.76;-5.76;-5.76;-5.76	4.88	-0.451	0.12214	.	.	.	.	.	D	0.97888	0.9306	L	0.34521	1.04	0.09310	N	1	D;D;D;P	0.69078	0.986;0.997;0.963;0.852	P;P;P;P	0.57776	0.754;0.827;0.518;0.572	D	0.94751	0.7927	9	0.38643	T	0.18	-0.5738	3.7097	0.08414	0.1642:0.4724:0.0:0.3634	.	58;186;205;208	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	C	205;208;61;58;186	ENSP00000304044:G205C;ENSP00000370767:G208C;ENSP00000370765:G61C;ENSP00000343861:G58C	ENSP00000304044:G205C	G	-	1	0	GP2	20241725	0.024000	0.19004	0.010000	0.14722	0.330000	0.28571	-0.022000	0.12480	-0.211000	0.10124	-0.137000	0.14449	GGC		PASS	0.592	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		18	50	18	50	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20480940	20480940	+	Silent	SNP	A	A	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr16:20480940A>G	ENST00000573854.1	+	4	609	c.495A>G	c.(493-495)caA>caG	p.Q165Q	ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Silent_p.Q165Q|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000417235.2_Silent_p.Q86Q|ACSM2A_ENST00000575690.1_Silent_p.Q165Q|ACSM2A_ENST00000219054.6_Silent_p.Q165Q|ACSM2A_ENST00000424070.1_Silent_p.Q165Q	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	165					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.Q165Q(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AAGTCATCCAAGAAGTGGACA	0.443																																						uc010bwe.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|breast(1)	3						c.(493-495)CAA>CAG		acyl-CoA synthetase medium-chain family member							79.0	79.0	79.0					16																	20480940		2203	4297	6500	SO:0001819	synonymous_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20480940A>G	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.495A>G	16.37:g.20480940A>G						ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Silent_p.Q86Q|ACSM2A_uc002dhf.3_Silent_p.Q165Q|ACSM2A_uc002dhg.3_Silent_p.Q165Q|ACSM2A_uc010vay.1_Silent_p.Q86Q	p.Q165Q	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			5	734	+			165					B3KTT9|O75202	Silent	SNP	ENST00000573854.1	37	c.495A>G	CCDS32401.1																																																																																				PASS	0.443	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		48	100	48	100	---	---	---	---
ERN2	10595	broad.mit.edu	37	16	23713476	23713476	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr16:23713476C>A	ENST00000457008.2	-	11	1238	c.1200G>T	c.(1198-1200)ttG>ttT	p.L400F	ERN2_ENST00000256797.4_Missense_Mutation_p.L448F					endoplasmic reticulum to nucleus signaling 2									p.L448F(1)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CACTGACCTCCAAGAAGAAGG	0.592																																						uc002dma.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(2)|ovary(2)	6						c.(1342-1344)TTG>TTT		endoplasmic reticulum to nucleus signalling 2							53.0	58.0	56.0					16																	23713476		2197	4300	6497	SO:0001583	missense	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23713476C>A	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1200G>T	16.37:g.23713476C>A	ENSP00000413812:p.Leu400Phe					ERN2_uc010bxp.2_Missense_Mutation_p.L448F|ERN2_uc010bxq.1_Missense_Mutation_p.L256F	p.L448F	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	11	1513	-			400			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000457008.2	37	c.1344G>T		.	.	.	.	.	.	.	.	.	.	C	7.427	0.637876	0.14386	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.60299	0.24;0.2	5.9	-0.0703	0.13748	.	1.012970	0.07915	N	0.974911	T	0.25531	0.0621	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.14012	0.009;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.001	T	0.15694	-1.0428	10	0.39692	T	0.17	.	2.2284	0.03990	0.1405:0.4809:0.1293:0.2493	.	400;400;400	Q76MJ5;E7ETG2;A5YM65	ERN2_HUMAN;.;.	F	448;400	ENSP00000256797:L448F;ENSP00000413812:L400F	ENSP00000256797:L448F	L	-	3	2	ERN2	23620977	0.008000	0.16893	0.395000	0.26283	0.887000	0.51463	-0.154000	0.10130	0.374000	0.24650	0.455000	0.32223	TTG		PASS	0.592	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			20	58	20	58	---	---	---	---
SLC5A11	115584	broad.mit.edu	37	16	24921722	24921722	+	Silent	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr16:24921722C>T	ENST00000347898.3	+	15	2368	c.1746C>T	c.(1744-1746)aaC>aaT	p.N582N	SLC5A11_ENST00000569071.1_Silent_p.N426N|SLC5A11_ENST00000565769.1_Silent_p.N518N|SLC5A11_ENST00000568579.1_Silent_p.N512N|SLC5A11_ENST00000567758.1_Silent_p.N547N|SLC5A11_ENST00000449109.2_Silent_p.N426N|SLC5A11_ENST00000424767.2_Silent_p.N547N|SLC5A11_ENST00000539472.1_Silent_p.N518N|SLC5A11_ENST00000545376.1_Silent_p.N512N	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.N582N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TCTCTCAGAACGGGATGCCAG	0.547																																						uc002dmu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1744-1746)AAC>AAT		solute carrier family 5 (sodium/glucose							115.0	96.0	103.0					16																	24921722		2197	4300	6497	SO:0001819	synonymous_variant	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24921722C>T	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1746C>T	16.37:g.24921722C>T						SLC5A11_uc002dms.2_Silent_p.N518N|SLC5A11_uc010vcd.1_Silent_p.N547N|SLC5A11_uc002dmt.2_Silent_p.N426N|SLC5A11_uc010vce.1_Silent_p.N512N|SLC5A11_uc010bxt.2_Silent_p.N518N|SLC5A11_uc002dmv.2_Silent_p.N205N	p.N582N	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	15	1978	+			582			Cytoplasmic (Potential).			Silent	SNP	ENST00000347898.3	37	c.1746C>T	CCDS10625.1																																																																																				PASS	0.547	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		15	58	15	58	---	---	---	---
MYLK3	91807	broad.mit.edu	37	16	46771994	46771994	+	Silent	SNP	T	T	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr16:46771994T>A	ENST00000394809.4	-	3	745	c.630A>T	c.(628-630)tcA>tcT	p.S210S	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	210					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.S261S(1)|p.S210S(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CTCCCAGCCCTGACGCTCTGA	0.657																																						uc002eei.3																			2	Substitution - coding silent(2)		lung(2)	stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7						c.(628-630)TCA>TCT		myosin light chain kinase 3							12.0	12.0	12.0					16																	46771994		2193	4283	6476	SO:0001819	synonymous_variant	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46771994T>A	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.630A>T	16.37:g.46771994T>A						MYLK3_uc010vge.1_Intron|MYLK3_uc002eej.1_5'UTR	p.S210S	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN			3	746	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	210					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Silent	SNP	ENST00000394809.4	37	c.630A>T	CCDS10723.2																																																																																				PASS	0.657	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		6	12	6	12	---	---	---	---
ABCC11	85320	broad.mit.edu	37	16	48201277	48201277	+	Splice_Site	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr16:48201277C>A	ENST00000394747.1	-	29	4406	c.4057G>T	c.(4057-4059)Gtg>Ttg	p.V1353L	ABCC11_ENST00000394748.1_Splice_Site_p.V1353L|ABCC11_ENST00000353782.5_Splice_Site_p.V1315L|RP11-3M1.1_ENST00000563906.1_RNA|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Splice_Site_p.V1353L	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1353	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.V1353L(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AATTCTACCACCTGGAGGGTA	0.567																																						uc002eff.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(4057-4059)GTG>TTG		ATP-binding cassette, sub-family C, member 11							61.0	62.0	62.0					16																	48201277		2201	4300	6501	SO:0001630	splice_region_variant	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48201277C>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.4057-1G>T	16.37:g.48201277C>A						ABCC11_uc002efg.1_Missense_Mutation_p.V1353L|ABCC11_uc002efh.1_Missense_Mutation_p.V1315L|ABCC11_uc010cbg.1_RNA	p.V1353L	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			29	4407	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1353			ABC transporter 2.|Cytoplasmic (Potential).		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.4057G>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806576	0.70682	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	4.19	3.24	0.37175	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.145631	0.44902	D	0.000403	T	0.73837	0.3638	L	0.41027	1.25	0.80722	D	1	D;B	0.55385	0.971;0.371	P;B	0.48270	0.572;0.101	T	0.70146	-0.4952	10	0.35671	T	0.21	-14.3418	6.9461	0.24520	0.0:0.7842:0.0:0.2158	.	1315;1353	Q96J66-2;Q96J66	.;ABCCB_HUMAN	L	1315;1353;1353;1353	ENSP00000311326:V1315L;ENSP00000349017:V1353L;ENSP00000378231:V1353L;ENSP00000378230:V1353L	ENSP00000311326:V1315L	V	-	1	0	ABCC11	46758778	0.998000	0.40836	0.028000	0.17463	0.059000	0.15707	2.438000	0.44837	1.076000	0.40961	0.655000	0.94253	GTG		PASS	0.567	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583	Missense_Mutation	7	44	7	44	---	---	---	---
N4BP1	9683	broad.mit.edu	37	16	48576971	48576971	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr16:48576971C>A	ENST00000262384.3	-	7	2771	c.2535G>T	c.(2533-2535)atG>atT	p.M845I	N4BP1_ENST00000565423.1_5'UTR	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	845					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)		p.M845I(1)|p.M892I(1)		breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TCTGAGCTGGCATGGGCAGGT	0.577																																						uc002efp.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2533-2535)ATG>ATT		Nedd4 binding protein 1							56.0	55.0	55.0					16																	48576971		1964	4172	6136	SO:0001583	missense	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48576971C>A	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.2535G>T	16.37:g.48576971C>A	ENSP00000262384:p.Met845Ile						p.M845I	NM_153029	NP_694574	O75113	N4BP1_HUMAN			7	2772	-		all_cancers(37;0.179)|all_lung(18;0.11)	845					A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	37	c.2535G>T	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	C	8.072	0.770380	0.15983	.	.	ENSG00000102921	ENST00000262384	T	0.40225	1.04	5.39	3.22	0.36961	.	1.030440	0.07576	N	0.919379	T	0.22205	0.0535	N	0.04880	-0.145	0.29058	N	0.884071	B	0.02656	0.0	B	0.04013	0.001	T	0.14839	-1.0458	10	0.10902	T	0.67	0.2066	10.4004	0.44227	0.18:0.7362:0.0:0.0838	.	845	O75113	N4BP1_HUMAN	I	845	ENSP00000262384:M845I	ENSP00000262384:M845I	M	-	3	0	N4BP1	47134472	0.228000	0.23718	0.962000	0.40283	0.798000	0.45092	0.425000	0.21346	1.261000	0.44149	0.650000	0.86243	ATG		PASS	0.577	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		10	47	10	47	---	---	---	---
GPR97	222487	broad.mit.edu	37	16	57719655	57719655	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr16:57719655G>A	ENST00000333493.4	+	11	1518	c.1357G>A	c.(1357-1359)Gtg>Atg	p.V453M	GPR97_ENST00000327655.6_Missense_Mutation_p.V243M|GPR97_ENST00000450388.3_Missense_Mutation_p.V333M|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	453					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V453M(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTGGCCCTGGTGGTCTGGAA	0.592																																						uc002emh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1357-1359)GTG>ATG		G protein-coupled receptor 97 precursor							163.0	138.0	146.0					16																	57719655		2198	4300	6498	SO:0001583	missense	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57719655G>A	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.1357G>A	16.37:g.57719655G>A	ENSP00000332900:p.Val453Met					GPR97_uc010vhv.1_Missense_Mutation_p.V333M|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_Missense_Mutation_p.V61M	p.V453M	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN			11	1460	+			453			Helical; Name=5; (Potential).		Q6ZMF4|Q86SL9|Q8IZF1	Missense_Mutation	SNP	ENST00000333493.4	37	c.1357G>A	CCDS10786.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596205	0.66332	.	.	ENSG00000182885	ENST00000333493;ENST00000327655;ENST00000450388	T;T;T	0.53206	0.63;1.18;0.63	5.65	3.68	0.42216	GPCR, family 2-like (1);	0.236800	0.29383	N	0.012306	T	0.64594	0.2612	M	0.72894	2.215	0.46437	D	0.999041	D	0.89917	1.0	D	0.71414	0.973	T	0.64597	-0.6370	10	0.49607	T	0.09	.	12.1735	0.54172	0.0:0.1303:0.7339:0.1358	.	453	Q86Y34	GPR97_HUMAN	M	453;243;333	ENSP00000332900:V453M;ENSP00000331199:V243M;ENSP00000404803:V333M	ENSP00000331199:V243M	V	+	1	0	GPR97	56277156	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.145000	0.58065	0.743000	0.32719	-0.127000	0.14921	GTG		PASS	0.592	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		14	50	14	50	---	---	---	---
CA7	766	broad.mit.edu	37	16	66887337	66887337	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr16:66887337T>A	ENST00000338437.2	+	7	840	c.731T>A	c.(730-732)gTg>gAg	p.V244E	RP11-61A14.1_ENST00000551187.1_RNA|CA7_ENST00000394069.3_Missense_Mutation_p.V188E	NM_005182.2	NP_005173.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	244					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of chloride transport (GO:2001225)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.V244E(1)		kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	Acetazolamide(DB00819)|Diclofenamide(DB01144)|Methazolamide(DB00703)|Zonisamide(DB00909)	ATCCACATGGTGAACAACTTC	0.602																																						uc002eqi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(730-732)GTG>GAG		carbonic anhydrase VII isoform 1							59.0	54.0	55.0					16																	66887337		2200	4300	6500	SO:0001583	missense	766				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr16:66887337T>A		CCDS10821.1, CCDS42173.1	16q22.1	2008-02-05			ENSG00000168748	ENSG00000168748	4.2.1.1	"""Carbonic anhydrases"""	1381	protein-coding gene	gene with protein product		114770				1783392	Standard	XM_005256135		Approved		uc002eqi.3	P43166	OTTHUMG00000137524	ENST00000338437.2:c.731T>A	16.37:g.66887337T>A	ENSP00000345659:p.Val244Glu					uc002eqh.2_RNA|CA7_uc002eqj.2_Missense_Mutation_p.V188E	p.V244E	NM_005182	NP_005173	P43166	CAH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	7	840	+		Ovarian(137;0.0563)	244					Q541F0|Q86YU0	Missense_Mutation	SNP	ENST00000338437.2	37	c.731T>A	CCDS10821.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.811769	0.50527	.	.	ENSG00000168748	ENST00000338437;ENST00000394069	T;T	0.65178	-0.14;-0.14	5.05	5.05	0.67936	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.189263	0.45606	D	0.000342	T	0.55689	0.1936	L	0.53671	1.685	0.47949	D	0.99955	B	0.10296	0.003	B	0.12837	0.008	T	0.56786	-0.7921	10	0.59425	D	0.04	-9.8087	9.3236	0.37980	0.0:0.0861:0.0:0.9139	.	244	P43166	CAH7_HUMAN	E	244;188	ENSP00000345659:V244E;ENSP00000377632:V188E	ENSP00000345659:V244E	V	+	2	0	CA7	65444838	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.750000	0.62162	2.024000	0.59613	0.379000	0.24179	GTG		PASS	0.602	CA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268847.1			16	48	16	48	---	---	---	---
CLEC3A	10143	broad.mit.edu	37	16	78064718	78064718	+	Missense_Mutation	SNP	G	G	A	rs541004698		TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr16:78064718G>A	ENST00000575655.1	+	3	655	c.574G>A	c.(574-576)Gag>Aag	p.E192K	CLEC3A_ENST00000565808.1_3'UTR|CLEC3A_ENST00000299642.4_Missense_Mutation_p.E201K|RP11-281J9.2_ENST00000563114.1_RNA	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	192	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.E192K(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						ATACATATGCGAGTTCACCAT	0.453																																						uc002ffh.3																			1	Substitution - Missense(1)		lung(1)		0						c.(574-576)GAG>AAG		C-type lectin domain family 3 member A							79.0	80.0	80.0					16																	78064718		2198	4300	6498	SO:0001583	missense	10143				skeletal system development	extracellular region	sugar binding	g.chr16:78064718G>A	AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"""C-type lectin domain containing"""	2052	protein-coding gene	gene with protein product		613588	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"""	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.574G>A	16.37:g.78064718G>A	ENSP00000460682:p.Glu192Lys						p.E192K	NM_005752	NP_005743	O75596	CLC3A_HUMAN			3	655	+			192			C-type lectin.		B2R8C4|Q3SX91|Q6UXF5	Missense_Mutation	SNP	ENST00000575655.1	37	c.574G>A		.	.	.	.	.	.	.	.	.	.	G	23.4	4.406171	0.83230	.	.	ENSG00000166509	ENST00000299642	.	.	.	6.07	6.07	0.98685	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.77731	0.4174	M	0.66506	2.035	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.69522	-0.5123	9	0.16896	T	0.51	-38.2765	20.2544	0.98414	0.0:0.0:1.0:0.0	.	192	O75596	CLC3A_HUMAN	K	192	.	ENSP00000299642:E192K	E	+	1	0	CLEC3A	76622219	1.000000	0.71417	0.994000	0.49952	0.205000	0.24178	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	GAG		PASS	0.453	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752		4	76	4	76	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579311	7579311	+	Splice_Site	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr17:7579311C>A	ENST00000269305.4	-	4	565		c.e4+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Splice_Site	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						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.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	GGGCAACTGACCGTGCAAGTC	0.532		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		38	Unknown(26)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(11)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(12)|breast(5)|upper_aerodigestive_tract(4)|bone(4)|ovary(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|urinary_tract(1)|oesophagus(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CS951538	TP53	S		c.e4+1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							66.0	61.0	63.0					17																	7579311		2203	4300	6503	SO:0001630	splice_region_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.chr17:7579311C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.375+1G>T	17.37:g.7579311C>A		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_Splice_Site_p.T125_splice|TP53_uc002gih.2_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Splice_Site_p.T86_splice	p.T125_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	569	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37	c.375_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954926	0.73902	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6586	0.68852	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520036	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.208000	0.72165	2.403000	0.81681	0.655000	0.94253	.		PASS	0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	44	48	44	48	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7696018	7696018	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr17:7696018C>T	ENST00000572933.1	+	47	8649	c.7189C>T	c.(7189-7191)Cgc>Tgc	p.R2397C	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2397C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2397	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R2397C(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGACACTGTTCGCTACAACTA	0.607																																						uc002giu.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(7189-7191)CGC>TGC		dynein heavy chain domain 3							68.0	58.0	61.0					17																	7696018		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7696018C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7189C>T	17.37:g.7696018C>T	ENSP00000458355:p.Arg2397Cys						p.R2397C	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			46	7203	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2397			AAA 3 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.7189C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.860872	0.71834	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.47869	0.83	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.74092	0.3671	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79090	-0.1946	10	0.62326	D	0.03	.	13.4221	0.61005	0.1572:0.8428:0.0:0.0	.	2397	Q9P225	DYH2_HUMAN	C	2397	ENSP00000373825:R2397C	ENSP00000353818:R2397C	R	+	1	0	DNAH2	7636743	1.000000	0.71417	0.952000	0.39060	0.447000	0.32167	5.487000	0.66863	2.650000	0.89964	0.643000	0.83706	CGC		PASS	0.607	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		3	45	3	45	---	---	---	---
TMEM107	84314	broad.mit.edu	37	17	8079345	8079345	+	Splice_Site	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr17:8079345C>A	ENST00000437139.2	-	2	175		c.e2-1		TMEM107_ENST00000449985.2_Intron|TMEM107_ENST00000532998.1_Splice_Site|TMEM107_ENST00000533070.1_Splice_Site|SNORD118_ENST00000363593.1_RNA|TMEM107_ENST00000316425.5_Splice_Site|TMEM107_ENST00000431792.2_Splice_Site|RP11-599B13.7_ENST00000581248.1_lincRNA	NM_183065.2	NP_898888.1	Q6UX40	TM107_HUMAN	transmembrane protein 107						cilium assembly (GO:0042384)|embryonic digit morphogenesis (GO:0042733)|neural tube patterning (GO:0021532)	integral component of membrane (GO:0016021)		p.?(1)		large_intestine(1)|lung(4)|ovary(1)	6						TGTTGCTGTCCTGGGAGCAGG	0.597																																						uc002gkg.3																			1	Unknown(1)		lung(1)		0						c.e2-1		transmembrane protein 107 isoform 2							71.0	70.0	71.0					17																	8079345		2203	4300	6503	SO:0001630	splice_region_variant	84314					integral to membrane		g.chr17:8079345C>A	AF311338	CCDS11132.1, CCDS45607.1	17p13.1	2005-12-19				ENSG00000179029			28128	protein-coding gene	gene with protein product						12477932	Standard	NM_032354		Approved	MGC10744	uc002gkh.4	Q6UX40		ENST00000437139.2:c.88-1G>T	17.37:g.8079345C>A						TMEM107_uc002gkh.3_Splice_Site_p.D30_splice|TMEM107_uc002gki.3_Splice_Site_p.D30_splice|TMEM107_uc002gkj.3_Intron|TMEM107_uc002gkk.2_Splice_Site_p.D30_splice	p.D30_splice	NM_183065	NP_898888	Q6UX40	TM107_HUMAN			2	198	-								A0PJV7|Q6NSE3|Q6ZRX9|Q96T82	Splice_Site	SNP	ENST00000437139.2	37	c.88_splice	CCDS45607.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101585	0.76983	.	.	ENSG00000179029	ENST00000532998;ENST00000437139;ENST00000533070;ENST00000316425;ENST00000431792	.	.	.	5.63	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7547	0.46230	0.0:0.9118:0.0:0.0882	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM107	8020070	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.090000	0.71397	1.514000	0.48869	0.551000	0.68910	.		PASS	0.597	TMEM107-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388844.1	NM_032354	Intron	38	34	38	34	---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10235418	10235418	+	Nonsense_Mutation	SNP	T	T	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr17:10235418T>A	ENST00000418404.3	-	19	2459	c.2296A>T	c.(2296-2298)Aag>Tag	p.K766*	MYH13_ENST00000252172.4_Nonsense_Mutation_p.K766*|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	766	Actin-binding. {ECO:0000250}.|Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.K766*(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTGCTCACCTTGGTGTTGCCG	0.547																																						uc002gmk.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|skin(2)	6						c.(2296-2298)AAG>TAG		myosin, heavy polypeptide 13, skeletal muscle							112.0	116.0	115.0					17																	10235418		2048	4200	6248	SO:0001587	stop_gained	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10235418T>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2296A>T	17.37:g.10235418T>A	ENSP00000404570:p.Lys766*						p.K766*	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			20	2386	-			766			Myosin head-like.|Actin-binding (By similarity).		O95252|Q9P0U8	Nonsense_Mutation	SNP	ENST00000418404.3	37	c.2296A>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	T	42	9.349075	0.99145	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	.	.	.	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9945	0.64388	0.0:0.0:0.0:1.0	.	.	.	.	X	766;441	.	ENSP00000252172:K766X	K	-	1	0	MYH13	10176143	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.741000	0.84997	1.946000	0.56461	0.533000	0.62120	AAG		PASS	0.547	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		32	28	32	28	---	---	---	---
COPRS	55352	broad.mit.edu	37	17	30179203	30179203	+	Silent	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr17:30179203G>A	ENST00000302362.6	-	4	647	c.510C>T	c.(508-510)tcC>tcT	p.S170S	COPRS_ENST00000378634.2_Silent_p.S158S	NM_018405.3	NP_060875.2	Q9NQ92	COPRS_HUMAN	coordinator of PRMT5, differentiation stimulator	170					histone H4-R3 methylation (GO:0043985)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone binding (GO:0042393)	p.S170S(1)									AGACCATCTTGGAATAATAGG	0.502																																						uc002hgp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(508-510)TCC>TCT		chromosome 17 open reading frame 79							132.0	115.0	121.0					17																	30179203		2203	4300	6503	SO:0001819	synonymous_variant	55352				histone H4-R3 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding	g.chr17:30179203G>A	AJ272196	CCDS11268.1	17q11.2	2012-11-16	2012-11-16	2012-11-16	ENSG00000172301	ENSG00000172301			28848	protein-coding gene	gene with protein product	"""cooperator of PRMT5"""		"""chromosome 17 open reading frame 79"""	C17orf79		10843809, 18404153	Standard	NM_018405		Approved	TTP1, HSA272196, COPR5	uc002hgp.3	Q9NQ92	OTTHUMG00000132812	ENST00000302362.6:c.510C>T	17.37:g.30179203G>A						C17orf79_uc010css.2_RNA	p.S170S	NM_018405	NP_060875	Q9NQ92	COPR5_HUMAN			4	618	-		all_cancers(10;4.54e-07)|all_hematologic(16;0.0216)|Acute lymphoblastic leukemia(14;0.0255)|Myeloproliferative disorder(56;0.0393)|Ovarian(249;0.1)	170					A6NP14|E1P656|Q96EF5|Q96P75	Silent	SNP	ENST00000302362.6	37	c.510C>T	CCDS11268.1																																																																																				PASS	0.502	COPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256257.2	NM_018405		41	38	41	38	---	---	---	---
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						uc002hvu.2																			11	Substitution - Missense(11)		lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)		0						c.(262-264)ATC>ACC		keratin associated protein 1.5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957	NP_114163	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	310	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		PASS	0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			7	49	7	49	---	---	---	---
CRHR1	1394	broad.mit.edu	37	17	43908281	43908281	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr17:43908281G>T	ENST00000398285.3	+	9	832	c.832G>T	c.(832-834)Ggg>Tgg	p.G278W	CRHR1_ENST00000352855.5_Missense_Mutation_p.G209W|CRHR1_ENST00000577353.1_Missense_Mutation_p.G249W|CRHR1_ENST00000339069.5_Missense_Mutation_p.G148W|CRHR1_ENST00000314537.5_Missense_Mutation_p.G249W|CRHR1_ENST00000293493.7_Missense_Mutation_p.G74W	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	278					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)	p.G249W(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CTGGGCCATTGGGAAGCTGTA	0.602																																					Ovarian(110;57 1568 10207 38216 49865)	uc010dap.2																			1	Substitution - Missense(1)		lung(1)	lung(3)	3						c.(832-834)GGG>TGG		corticotropin releasing hormone receptor 1							66.0	70.0	69.0					17																	43908281		2006	4160	6166	SO:0001583	missense	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43908281G>T	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.832G>T	17.37:g.43908281G>T	ENSP00000381333:p.Gly278Trp					CRHR1_uc010wjx.1_Missense_Mutation_p.G74W|CRHR1_uc002ijp.2_Missense_Mutation_p.G148W|CRHR1_uc002ijm.2_Missense_Mutation_p.G249W|CRHR1_uc002ijn.2_Missense_Mutation_p.G209W|CRHR1_uc010dar.2_Missense_Mutation_p.G249W|CRHR1_uc010dao.2_Missense_Mutation_p.G148W|CRHR1_uc010daq.2_Missense_Mutation_p.G74W	p.G278W	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	9	1097	+	Colorectal(2;0.0416)		278			Helical; Name=4; (Potential).		B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	ENST00000398285.3	37	c.832G>T	CCDS45712.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570593	0.86542	.	.	ENSG00000120088	ENST00000293493;ENST00000339069;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	T;T;T;T;T	0.44083	1.03;0.93;1.03;1.03;1.03	4.86	4.86	0.63082	GPCR, family 2-like (1);	0.097275	0.64402	D	0.000001	T	0.50684	0.1630	N	0.22421	0.69	0.80722	D	1	D;D;D;D;D;D	0.76494	0.998;0.999;0.994;0.999;0.995;0.998	D;D;D;D;D;D	0.78314	0.974;0.991;0.928;0.986;0.96;0.974	T	0.55309	-0.8161	10	0.72032	D	0.01	.	15.5284	0.75932	0.0:0.0:1.0:0.0	.	249;278;148;148;209;249	P34998-4;P34998;B3TIK8;B4DMR5;P34998-3;P34998-2	.;CRFR1_HUMAN;.;.;.;.	W	74;148;278;249;249;209	ENSP00000293493:G74W;ENSP00000340522:G148W;ENSP00000381333:G278W;ENSP00000326060:G249W;ENSP00000344068:G209W	ENSP00000293493:G74W	G	+	1	0	CRHR1	41264062	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.392000	0.97252	2.517000	0.84864	0.561000	0.74099	GGG		PASS	0.602	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			33	42	33	42	---	---	---	---
NME1	4830	broad.mit.edu	37	17	49239125	49239125	+	Silent	SNP	A	A	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr17:49239125A>G	ENST00000393196.3	+	5	509	c.378A>G	c.(376-378)gcA>gcG	p.A126A	NME2_ENST00000376392.6_Intron|NME2_ENST00000555572.1_Intron|NME1_ENST00000336097.3_Silent_p.A151A|NME1-NME2_ENST00000393198.3_Intron|NME1_ENST00000013034.3_Silent_p.A151A|NME2_ENST00000393193.2_Intron|NME1-NME2_ENST00000608447.1_Intron|NME1_ENST00000511355.1_3'UTR	NM_000269.2	NP_000260.1	P15531	NDKA_HUMAN	NME/NM23 nucleoside diphosphate kinase 1	126					cellular response to drug (GO:0035690)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|CTP biosynthetic process (GO:0006241)|DNA catabolic process (GO:0006308)|endocytosis (GO:0006897)|GTP biosynthetic process (GO:0006183)|hippocampus development (GO:0021766)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amine (GO:0014075)|response to cAMP (GO:0051591)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|deoxyribonuclease activity (GO:0004536)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|nucleoside diphosphate kinase activity (GO:0004550)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|single-stranded DNA binding (GO:0003697)	p.A151A(1)		endometrium(1)|large_intestine(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		Adefovir Dipivoxil(DB00718)|Lamivudine(DB00709)|Tenofovir(DB00300)	TGGAGAGTGCAGAGAAGGAGA	0.483																																					GBM(176;1298 2890 6639 30062)	uc002iti.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(376-378)GCA>GCG		non-metastatic cells 1, protein (NM23A)	Gemcitabine(DB00441)|Progesterone(DB00396)						128.0	116.0	120.0					17																	49239125		2203	4300	6503	SO:0001819	synonymous_variant	4830				cell differentiation|CTP biosynthetic process|endocytosis|GTP biosynthetic process|negative regulation of cell proliferation|nervous system development|nucleobase, nucleoside and nucleotide interconversion|positive regulation of DNA binding|positive regulation of epithelial cell proliferation|regulation of apoptosis|UTP biosynthetic process	cytosol|nucleus	ATP binding|deoxyribonuclease activity|GTP binding|identical protein binding|magnesium ion binding|nucleoside diphosphate kinase activity	g.chr17:49239125A>G	AL360191, X17620	CCDS11578.1, CCDS11579.1	17q21.33	2013-04-29	2012-05-18		ENSG00000239672	ENSG00000239672			7849	protein-coding gene	gene with protein product		156490	"""non-metastatic cells 1, protein (NM23A) expressed in"""			8270257, 19852809	Standard	NM_000269		Approved	NM23, NM23-H1, NDPKA		P15531	OTTHUMG00000137474	ENST00000393196.3:c.378A>G	17.37:g.49239125A>G						NME1_uc002ith.1_Silent_p.A151A|NME1-NME2_uc002itj.2_Intron|NME1-NME2_uc002itk.2_Intron	p.A126A	NM_000269	NP_000260	P15531	NDKA_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		5	486	+			126					Q6FGK3|Q86XQ2|Q9UDJ6	Silent	SNP	ENST00000393196.3	37	c.378A>G	CCDS11579.1																																																																																				PASS	0.483	NME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268662.2	NM_000269		57	39	57	39	---	---	---	---
KIF2B	84643	broad.mit.edu	37	17	51901317	51901317	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr17:51901317G>T	ENST00000268919.4	+	1	1079	c.923G>T	c.(922-924)gGg>gTg	p.G308V		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	308	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G308V(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACGGGAAGTGGGAAGACGTAC	0.552																																						uc002iua.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)	8						c.(922-924)GGG>GTG		kinesin family member 2B							98.0	90.0	93.0					17																	51901317		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901317G>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.923G>T	17.37:g.51901317G>T	ENSP00000268919:p.Gly308Val					uc010wna.1_RNA	p.G308V	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	1079	+			308			ATP (By similarity).|Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.923G>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065854	0.76187	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.76578	-1.03	5.52	5.52	0.82312	Kinesin, motor domain (5);	0.000000	0.52532	D	0.000071	D	0.94503	0.8230	H	0.99919	4.95	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97051	0.9764	10	0.87932	D	0	.	18.3543	0.90352	0.0:0.0:1.0:0.0	.	308	Q8N4N8	KIF2B_HUMAN	V	308;196	ENSP00000268919:G308V	ENSP00000268919:G308V	G	+	2	0	KIF2B	49256316	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	9.813000	0.99286	2.739000	0.93911	0.655000	0.94253	GGG		PASS	0.552	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		39	37	39	37	---	---	---	---
CEP192	55125	broad.mit.edu	37	18	13092463	13092463	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr18:13092463G>A	ENST00000325971.8	+	32	5996	c.4403G>A	c.(4402-4404)aGa>aAa	p.R1468K	CEP192_ENST00000430049.2_Missense_Mutation_p.R1589K|CEP192_ENST00000506447.1_Missense_Mutation_p.R2064K|CEP192_ENST00000540847.2_3'UTR			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1468					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.R1468K(1)|p.R2064K(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGAGAATTCAGAGATTGCATT	0.343																																						uc010xac.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(6190-6192)AGA>AAA		centrosomal protein 192kDa							84.0	87.0	86.0					18																	13092463		2203	4299	6502	SO:0001583	missense	55125							g.chr18:13092463G>A	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.4403G>A	18.37:g.13092463G>A	ENSP00000317156:p.Arg1468Lys					CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.R1589K|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.R486K|CEP192_uc002krw.2_Missense_Mutation_p.R213K|CEP192_uc002krx.2_Missense_Mutation_p.R68K|CEP192_uc002kry.2_RNA	p.R2064K	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			34	6271	+			2064					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.6191G>A		.	.	.	.	.	.	.	.	.	.	G	12.03	1.817083	0.32145	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.33216	1.42;1.42;1.42	5.79	3.96	0.45880	.	0.495349	0.22203	N	0.063214	T	0.20251	0.0487	L	0.45581	1.43	0.21652	N	0.999604	B;B;B;B	0.29988	0.264;0.054;0.023;0.023	B;B;B;B	0.21151	0.033;0.027;0.019;0.019	T	0.14008	-1.0488	10	0.14252	T	0.57	-23.558	6.4576	0.21938	0.1603:0.15:0.6897:0.0	.	1589;2064;68;666	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	K	2064;1468;1468;1589;68	ENSP00000427550:R2064K;ENSP00000317156:R1468K;ENSP00000389190:R1589K	ENSP00000317156:R1468K	R	+	2	0	CEP192	13082463	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	2.428000	0.44749	1.475000	0.48197	0.557000	0.71058	AGA		PASS	0.343	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		22	49	22	49	---	---	---	---
MC5R	4161	broad.mit.edu	37	18	13826480	13826480	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr18:13826480C>T	ENST00000324750.3	+	1	938	c.716C>T	c.(715-717)aCc>aTc	p.T239I	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	239					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)	p.T239I(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GGCGCGGTCACCGTCACCATG	0.617																																						uc010xaf.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(3)|lung(2)|breast(1)	6						c.(715-717)ACC>ATC		melanocortin 5 receptor							216.0	174.0	188.0					18																	13826480		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826480C>T	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.716C>T	18.37:g.13826480C>T	ENSP00000318077:p.Thr239Ile						p.T239I	NM_005913	NP_005904	P33032	MC5R_HUMAN			1	716	+			239			Cytoplasmic (Potential).		B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.716C>T	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133428	0.37630	.	.	ENSG00000176136	ENST00000324750	T	0.39056	1.1	4.88	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55194	0.1905	M	0.87456	2.885	0.80722	D	1	P	0.34639	0.461	B	0.38264	0.269	T	0.65207	-0.6224	10	0.87932	D	0	.	17.0064	0.86394	0.0:1.0:0.0:0.0	.	239	P33032	MC5R_HUMAN	I	239	ENSP00000318077:T239I	ENSP00000318077:T239I	T	+	2	0	MC5R	13816480	1.000000	0.71417	0.999000	0.59377	0.068000	0.16541	7.423000	0.80229	2.246000	0.74042	0.305000	0.20034	ACC		PASS	0.617	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		17	160	17	160	---	---	---	---
DSG4	147409	broad.mit.edu	37	18	28993359	28993359	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr18:28993359C>A	ENST00000308128.4	+	16	3059	c.2924C>A	c.(2923-2925)cCt>cAt	p.P975H	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.P994H|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	975					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P975H(1)|p.P994H(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCTGGTGTGCCTGACATGAGC	0.433																																						uc002kwq.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(3)	8						c.(2923-2925)CCT>CAT		desmoglein 4 isoform 2 preproprotein							171.0	157.0	162.0					18																	28993359		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28993359C>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2924C>A	18.37:g.28993359C>A	ENSP00000311859:p.Pro975His					DSG4_uc002kwr.2_Missense_Mutation_p.P994H	p.P975H	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		16	3059	+			975			Cytoplasmic (Potential).		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.2924C>A	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711577	0.48517	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.59638	0.31;0.25	5.44	4.57	0.56435	.	0.242522	0.21531	N	0.073043	T	0.61949	0.2388	L	0.49126	1.545	0.20563	N	0.999889	P;P	0.44006	0.824;0.604	P;P	0.50860	0.652;0.524	T	0.54603	-0.8269	10	0.36615	T	0.2	.	13.6326	0.62204	0.0:0.7041:0.2959:0.0	.	994;975	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	H	975;994	ENSP00000311859:P975H;ENSP00000352785:P994H	ENSP00000311859:P975H	P	+	2	0	DSG4	27247357	0.042000	0.20092	0.163000	0.22734	0.978000	0.69477	3.096000	0.50243	1.276000	0.44395	0.591000	0.81541	CCT		PASS	0.433	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		77	144	77	144	---	---	---	---
PIK3C3	5289	broad.mit.edu	37	18	39609304	39609304	+	Nonsense_Mutation	SNP	A	A	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr18:39609304A>T	ENST00000262039.4	+	15	1692	c.1606A>T	c.(1606-1608)Aga>Tga	p.R536*	PIK3C3_ENST00000593098.1_Nonsense_Mutation_p.R21*|PIK3C3_ENST00000398870.3_Nonsense_Mutation_p.R473*	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	536					autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.R536*(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TAAGTCTGTCAGAGTTATGCG	0.388										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	uc002lap.2																			1	Substitution - Nonsense(1)		lung(1)	lung(8)|ovary(1)|breast(1)	10						c.(1606-1608)AGA>TGA		catalytic phosphatidylinositol 3-kinase 3							124.0	112.0	116.0					18																	39609304		2203	4300	6503	SO:0001587	stop_gained	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39609304A>T	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.1606A>T	18.37:g.39609304A>T	ENSP00000262039:p.Arg536*	TSP Lung(28;0.18)				PIK3C3_uc010xcl.1_Nonsense_Mutation_p.R473*|PIK3C3_uc002laq.2_Nonsense_Mutation_p.R21*	p.R536*	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN			15	1664	+			536					Q15134	Nonsense_Mutation	SNP	ENST00000262039.4	37	c.1606A>T	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	A	38	7.125600	0.98081	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	.	.	.	6.03	0.62	0.17637	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2636	0.82563	0.4183:0.5817:0.0:0.0	.	.	.	.	X	536;473	.	.	R	+	1	2	PIK3C3	37863302	0.998000	0.40836	0.997000	0.53966	0.978000	0.69477	0.856000	0.27818	-0.108000	0.12066	-0.313000	0.08912	AGA		PASS	0.388	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		32	60	32	60	---	---	---	---
TCEB3CL	728929	broad.mit.edu	37	18	44549187	44549187	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr18:44549187G>A	ENST00000451265.1	-	1	1347	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_001100817.1	NP_001094287.1	Q3SY89	EA3L1_HUMAN	transcription elongation factor B polypeptide 3C-like	371	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T371M(1)		central_nervous_system(1)|lung(1)|prostate(1)	3						CTGATCGGGCGTCCACCCTTC	0.587																																						uc010dnr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1111-1113)ACG>ATG		transcription elongation factor B polypeptide							260.0	221.0	234.0					18																	44549187		1740	3470	5210	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44549187G>A			18q21.1	2007-07-10				ENSG00000275553			31007	protein-coding gene	gene with protein product							Standard	NM_001100817		Approved	HsT828		Q3SY89		ENST00000451265.1:c.1112C>T	18.37:g.44549187G>A	ENSP00000409932:p.Thr371Met					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.T371M	NM_001100817	NP_001094287	Q8NG57	ELOA3_HUMAN			1	1112	-			371			Activation domain (By similarity).		Q3MI93	Missense_Mutation	SNP	ENST00000451265.1	37	c.1112C>T	CCDS42433.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991850	0.35131	.	.	ENSG00000234298	ENST00000451265	T	0.34859	1.34	1.5	0.603	0.17541	.	0.000000	0.52532	D	0.000078	T	0.47021	0.1423	M	0.63843	1.955	0.25300	N	0.989283	D	0.71674	0.998	P	0.61874	0.895	T	0.30357	-0.9981	10	0.56958	D	0.05	-24.5205	7.7008	0.28621	0.0:0.2651:0.7349:0.0	.	371	Q3SY89	EA3L1_HUMAN	M	371	ENSP00000409932:T371M	ENSP00000409932:T371M	T	-	2	0	TCEB3CL	42803185	0.992000	0.36948	0.000000	0.03702	0.000000	0.00434	2.511000	0.45476	0.221000	0.20879	-0.232000	0.12228	ACG		PASS	0.587	TCEB3CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451071.1	XM_001132059		36	441	36	441	---	---	---	---
TCEB3C	162699	broad.mit.edu	37	18	44555055	44555055	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr18:44555055G>C	ENST00000330682.2	-	1	1394	c.1159C>G	c.(1159-1161)Cga>Gga	p.R387G	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	387	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R387G(2)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TCTGTCTCTCGAGCGAGTGCG	0.567																																						uc010xdb.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1159-1161)CGA>GGA		transcription elongation factor B polypeptide							373.0	345.0	354.0					18																	44555055		1963	3962	5925	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44555055G>C	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1159C>G	18.37:g.44555055G>C	ENSP00000328232:p.Arg387Gly					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.R387G	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN			1	1395	-			387			Activation domain (By similarity).			Missense_Mutation	SNP	ENST00000330682.2	37	c.1159C>G	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	g	5.508	0.278648	0.10458	.	.	ENSG00000183791	ENST00000330682	T	0.30182	1.54	1.75	-3.5	0.04710	.	0.949388	0.08583	N	0.924265	T	0.08935	0.0221	N	0.01209	-0.955	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30268	-0.9984	10	0.22109	T	0.4	-0.6398	6.0365	0.19710	0.0:0.3159:0.4499:0.2343	.	387	Q8NG57	ELOA3_HUMAN	G	387	ENSP00000328232:R387G	ENSP00000328232:R387G	R	-	1	2	TCEB3C	42809053	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.485000	0.22324	-1.738000	0.01348	-1.464000	0.01018	CGA		PASS	0.567	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		33	625	33	625	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56184260	56184260	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr18:56184260G>C	ENST00000361673.3	-	9	6033	c.5820C>G	c.(5818-5820)caC>caG	p.H1940Q		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1940	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.H1301H(2)|p.H1940H(1)|p.H1940Q(1)|p.H1301Q(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GCATGAGGCCGTGCATCACTG	0.557																																						uc002lhj.3																			5	Substitution - coding silent(3)|Substitution - Missense(2)	p.H1301H(1)	lung(2)|large_intestine(2)|ovary(1)	ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(5818-5820)CAC>CAG		heart alpha-kinase							159.0	138.0	145.0					18																	56184260		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56184260G>C	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5820C>G	18.37:g.56184260G>C	ENSP00000354991:p.His1940Gln						p.H1940Q	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			9	6034	-			1940			Alpha-type protein kinase.		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.5820C>G	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.052129	0.00394	.	.	ENSG00000198796	ENST00000361673	T	0.06608	3.28	5.75	2.0	0.26442	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	1.027170	0.07729	N	0.945018	T	0.02727	0.0082	N	0.08118	0	0.29007	N	0.887095	B	0.09022	0.002	B	0.15484	0.013	T	0.44742	-0.9308	10	0.02654	T	1	0.0517	3.8306	0.08873	0.1471:0.272:0.4683:0.1125	.	1940	Q86TB3	ALPK2_HUMAN	Q	1940	ENSP00000354991:H1940Q	ENSP00000354991:H1940Q	H	-	3	2	ALPK2	54335240	0.000000	0.05858	0.958000	0.39756	0.076000	0.17211	-0.859000	0.04277	0.365000	0.24400	-0.839000	0.03059	CAC		PASS	0.557	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		46	109	46	109	---	---	---	---
CDH20	28316	broad.mit.edu	37	18	59157860	59157860	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr18:59157860T>C	ENST00000262717.4	+	2	472	c.74T>C	c.(73-75)cTg>cCg	p.L25P	CDH20_ENST00000536675.2_Missense_Mutation_p.L25P|CDH20_ENST00000538374.1_Missense_Mutation_p.L25P			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	25					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L25P(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TTCTGGGGGCTGATGGACCTT	0.502																																						uc010dps.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|pancreas(1)	5						c.(73-75)CTG>CCG		cadherin 20, type 2 preproprotein							148.0	126.0	133.0					18																	59157860		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59157860T>C	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.74T>C	18.37:g.59157860T>C	ENSP00000262717:p.Leu25Pro					CDH20_uc002lif.2_Missense_Mutation_p.L19P	p.L25P	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			1	86	+		Colorectal(73;0.186)	25					Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.74T>C	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.191745	0.58017	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.58358	0.34;0.34;0.34	5.27	5.27	0.74061	.	0.274086	0.29307	N	0.012536	T	0.49575	0.1565	N	0.24115	0.695	0.80722	D	1	D	0.57257	0.979	P	0.51487	0.671	T	0.48139	-0.9061	10	0.36615	T	0.2	.	15.4969	0.75662	0.0:0.0:0.0:1.0	.	25	Q9HBT6	CAD20_HUMAN	P	25	ENSP00000444767:L25P;ENSP00000442226:L25P;ENSP00000262717:L25P	ENSP00000262717:L25P	L	+	2	0	CDH20	57308840	1.000000	0.71417	0.974000	0.42286	0.967000	0.64934	6.426000	0.73374	2.117000	0.64856	0.460000	0.39030	CTG		PASS	0.502	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		40	96	40	96	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74587471	74587471	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr18:74587471G>C	ENST00000253159.8	+	6	883	c.685G>C	c.(685-687)Gaa>Caa	p.E229Q	ZNF236_ENST00000583095.1_3'UTR|ZNF236_ENST00000320610.9_Missense_Mutation_p.E231Q	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	229					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E229Q(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAAATGTAGTGAATGTGGAAA	0.448											OREG0025069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002lmi.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(685-687)GAA>CAA		zinc finger protein 236							105.0	102.0	103.0					18																	74587471		1933	4136	6069	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74587471G>C	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.685G>C	18.37:g.74587471G>C	ENSP00000253159:p.Glu229Gln		OREG0025069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1154	ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Missense_Mutation_p.E229Q	p.E229Q	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	6	883	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	229			C2H2-type 7.		B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.685G>C	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	7.236	0.600283	0.13939	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.07444	3.19;3.19	5.95	5.95	0.96441	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.185114	0.47852	D	0.000208	T	0.06234	0.0161	N	0.04373	-0.215	0.31768	N	0.632466	B;P	0.47191	0.023;0.891	B;P	0.48368	0.033;0.575	T	0.30238	-0.9985	10	0.16420	T	0.52	.	13.5625	0.61797	0.0708:0.0:0.9292:0.0	.	229;229	Q9NWI2;Q9UL36	.;ZN236_HUMAN	Q	229	ENSP00000253159:E229Q;ENSP00000444524:E229Q	ENSP00000253159:E229Q	E	+	1	0	ZNF236	72716459	1.000000	0.71417	0.212000	0.23672	0.120000	0.20174	5.487000	0.66863	2.826000	0.97356	0.563000	0.77884	GAA		PASS	0.448	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			30	84	30	84	---	---	---	---
MIDN	90007	broad.mit.edu	37	19	1255030	1255030	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr19:1255030G>T	ENST00000591446.2	+	5	1235	c.826G>T	c.(826-828)Gcc>Tcc	p.A276S	MIDN_ENST00000300952.2_Missense_Mutation_p.A276S			Q504T8	MIDN_HUMAN	midnolin	276						cytosol (GO:0005829)|nucleolus (GO:0005730)		p.A276S(1)		NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		TGTGAATCACGCCCCGGGGGT	0.632																																						uc002lrp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(826-828)GCC>TCC		midnolin							66.0	69.0	68.0					19																	1255030		2203	4299	6502	SO:0001583	missense	90007					nucleolus		g.chr19:1255030G>T	AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.826G>T	19.37:g.1255030G>T	ENSP00000467679:p.Ala276Ser						p.A276S	NM_177401	NP_796375	Q504T8	MIDN_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)	6	1341	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	276					Q96BW8	Missense_Mutation	SNP	ENST00000591446.2	37	c.826G>T	CCDS32864.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928491	0.73327	.	.	ENSG00000167470	ENST00000300952	.	.	.	3.62	3.62	0.41486	.	0.000000	0.85682	D	0.000000	T	0.58921	0.2156	L	0.38175	1.15	0.52099	D	0.999946	P	0.37824	0.609	P	0.49192	0.602	T	0.63761	-0.6564	9	0.56958	D	0.05	-22.9786	14.0132	0.64509	0.0:0.0:1.0:0.0	.	276	Q504T8	MIDN_HUMAN	S	276	.	ENSP00000300952:A276S	A	+	1	0	MIDN	1206030	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.313000	0.65798	1.864000	0.54056	0.561000	0.74099	GCC		PASS	0.632	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2			31	58	31	58	---	---	---	---
ADAMTSL5	339366	broad.mit.edu	37	19	1506294	1506294	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr19:1506294C>T	ENST00000413997.2	-	12	1165	c.1166G>A	c.(1165-1167)gGc>gAc	p.G389D	ADAMTSL5_ENST00000330475.4_Missense_Mutation_p.G379D|ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000395467.2_Silent_p.G121G|CTB-25B13.9_ENST00000590252.1_RNA			Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	389	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.					extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G379D(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGTGGTGGCCCAGCACTCG	0.647																																						uc002ltd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1135-1137)GGC>GAC		ADAMTS-like 5 precursor							35.0	32.0	33.0					19																	1506294		2203	4300	6503	SO:0001583	missense	339366					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:1506294C>T	BC040620	CCDS12071.1	19p13.3	2008-02-05	2006-02-07	2006-02-07		ENSG00000185761			27912	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain containing 6"""	THSD6			Standard	NM_213604		Approved		uc002ltd.2	Q6ZMM2		ENST00000413997.2:c.1166G>A	19.37:g.1506294C>T	ENSP00000399364:p.Gly389Asp					ADAMTSL5_uc010dsl.2_Missense_Mutation_p.G148D|ADAMTSL5_uc010xgq.1_Missense_Mutation_p.G389D	p.G379D	NM_213604	NP_998769	Q6ZMM2	ATL5_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	1580	-		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)	379			NTR.		B4DXK7|Q8IW95	Missense_Mutation	SNP	ENST00000413997.2	37	c.1136G>A		.	.	.	.	.	.	.	.	.	.	C	19.23	3.788407	0.70337	.	.	ENSG00000185761	ENST00000413997;ENST00000330475	T;T	0.29142	1.58;1.58	3.36	2.2	0.27929	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (1);	0.556823	0.18160	N	0.149819	T	0.36276	0.0961	L	0.40543	1.245	0.80722	D	1	D;D	0.58268	0.982;0.982	P;P	0.57620	0.824;0.767	T	0.09862	-1.0655	10	0.42905	T	0.14	.	9.9798	0.41806	0.0:0.792:0.208:0.0	.	389;379	B4DXK7;Q6ZMM2	.;ATL5_HUMAN	D	389;379	ENSP00000399364:G389D;ENSP00000327608:G379D	ENSP00000327608:G379D	G	-	2	0	ADAMTSL5	1457294	1.000000	0.71417	0.999000	0.59377	0.884000	0.51177	3.230000	0.51286	1.877000	0.54381	0.455000	0.32223	GGC		PASS	0.647	ADAMTSL5-202	KNOWN	basic	protein_coding	protein_coding		XM_294919		13	30	13	30	---	---	---	---
ZNRF4	148066	broad.mit.edu	37	19	5455728	5455728	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr19:5455728C>A	ENST00000222033.4	+	1	303	c.226C>A	c.(226-228)Ccg>Acg	p.P76T		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	76						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.P76T(1)		NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GTGGCCACGGCCGGGCCGAGC	0.672																																						uc002mca.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(226-228)CCG>ACG		zinc and ring finger 4 precursor							43.0	53.0	50.0					19																	5455728		2075	4177	6252	SO:0001583	missense	148066					integral to membrane	zinc ion binding	g.chr19:5455728C>A	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.226C>A	19.37:g.5455728C>A	ENSP00000222033:p.Pro76Thr						p.P76T	NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	303	+			76			Extracellular (Potential).		A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	c.226C>A	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006488	0.35415	.	.	ENSG00000105428	ENST00000222033	T	0.04406	3.63	3.33	-2.83	0.05769	.	1.922130	0.04039	U	0.302816	T	0.05640	0.0148	L	0.51422	1.61	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.46373	-0.9196	10	0.51188	T	0.08	.	5.0538	0.14522	0.3815:0.2684:0.3501:0.0	.	76	Q8WWF5	ZNRF4_HUMAN	T	76	ENSP00000222033:P76T	ENSP00000222033:P76T	P	+	1	0	ZNRF4	5406728	0.032000	0.19561	0.008000	0.14137	0.273000	0.26683	-0.212000	0.09319	0.010000	0.14839	0.313000	0.20887	CCG		PASS	0.672	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		18	65	18	65	---	---	---	---
VAV1	7409	broad.mit.edu	37	19	6825111	6825111	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr19:6825111G>T	ENST00000602142.1	+	7	784	c.702G>T	c.(700-702)gaG>gaT	p.E234D	VAV1_ENST00000596764.1_Missense_Mutation_p.E202D|VAV1_ENST00000539284.1_Missense_Mutation_p.E137D|VAV1_ENST00000304076.2_Missense_Mutation_p.E234D|VAV1_ENST00000599806.1_Missense_Mutation_p.E179D	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	234	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E234D(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AAGACATTGAGATCATCTTTA	0.542																																						uc002mfu.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						c.(700-702)GAG>GAT		vav 1 guanine nucleotide exchange factor							109.0	110.0	109.0					19																	6825111		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6825111G>T		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.702G>T	19.37:g.6825111G>T	ENSP00000472929:p.Glu234Asp					VAV1_uc010xjh.1_Missense_Mutation_p.E202D|VAV1_uc010dva.1_Missense_Mutation_p.E234D|VAV1_uc002mfv.1_Missense_Mutation_p.E179D	p.E234D	NM_005428	NP_005419	P15498	VAV_HUMAN			7	799	+			234			DH.		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.702G>T	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	5.673	0.308726	0.10733	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.59502	0.26;0.26	5.02	2.86	0.33363	Dbl homology (DH) domain (5);Calponin homology domain (1);	0.130645	0.50627	D	0.000110	T	0.35393	0.0930	N	0.16066	0.365	0.39039	D	0.960089	B;B;B;B	0.30114	0.188;0.269;0.0;0.001	B;B;B;B	0.38985	0.143;0.287;0.006;0.012	T	0.12293	-1.0553	10	0.10111	T	0.7	.	3.2558	0.06831	0.0943:0.1762:0.5472:0.1823	.	137;234;179;234	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	D	234;137	ENSP00000302269:E234D;ENSP00000443242:E137D	ENSP00000302269:E234D	E	+	3	2	VAV1	6776111	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	1.050000	0.30404	1.096000	0.41439	-0.181000	0.13052	GAG		PASS	0.542	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			35	113	35	113	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8130938	8130938	+	Silent	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr19:8130938C>A	ENST00000600128.1	-	64	8709	c.8295G>T	c.(8293-8295)cgG>cgT	p.R2765R	FBN3_ENST00000601739.1_Silent_p.R2765R|FBN3_ENST00000270509.2_Silent_p.R2765R			Q75N90	FBN3_HUMAN	fibrillin 3	2765						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R2765R(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCGGCCGCCTCCGCCCCAGCT	0.682																																						uc002mjf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(8293-8295)CGG>CGT		fibrillin 3 precursor							49.0	52.0	51.0					19																	8130938		2201	4298	6499	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8130938C>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8295G>T	19.37:g.8130938C>A						FBN3_uc002mje.2_Silent_p.R561R	p.R2765R	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			63	8316	-			2765					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.8295G>T	CCDS12196.1																																																																																				PASS	0.682	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		38	104	38	104	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9046849	9046849	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr19:9046849G>C	ENST00000397910.4	-	5	34985	c.34782C>G	c.(34780-34782)aaC>aaG	p.N11594K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11596	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.N7227K(2)|p.N11594K(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATGGGAAAAGTTGGGAATTG	0.517																																						uc002mkp.2																			4	Substitution - Missense(4)		lung(4)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(34780-34782)AAC>AAG		mucin 16							133.0	130.0	131.0					19																	9046849		1962	4157	6119	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046849G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34782C>G	19.37:g.9046849G>C	ENSP00000381008:p.Asn11594Lys						p.N11594K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	34986	-			11596			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.34782C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.034	-0.421592	0.04734	.	.	ENSG00000181143	ENST00000397910	T	0.02050	4.48	2.05	-4.1	0.03940	.	.	.	.	.	T	0.02047	0.0064	L	0.48642	1.525	.	.	.	B	0.06786	0.001	B	0.04013	0.001	T	0.46275	-0.9203	8	0.87932	D	0	.	0.7937	0.01062	0.1999:0.3332:0.1356:0.3312	.	11594	B5ME49	.	K	11594	ENSP00000381008:N11594K	ENSP00000381008:N11594K	N	-	3	2	MUC16	8907849	0.004000	0.15560	0.000000	0.03702	0.016000	0.09150	-0.015000	0.12634	-1.899000	0.01098	-1.086000	0.02197	AAC		PASS	0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		31	61	31	61	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9070865	9070865	+	Silent	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr19:9070865G>A	ENST00000397910.4	-	3	16784	c.16581C>T	c.(16579-16581)agC>agT	p.S5527S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5529	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S5527S(2)|p.S1160S(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGATGTTCTGCTAGAGGAGA	0.493																																						uc002mkp.2																			3	Substitution - coding silent(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(16579-16581)AGC>AGT		mucin 16							165.0	148.0	153.0					19																	9070865		1961	4169	6130	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9070865G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16581C>T	19.37:g.9070865G>A							p.S5527S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	16785	-			5529			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.16581C>T	CCDS54212.1																																																																																				PASS	0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		48	74	48	74	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9085224	9085224	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr19:9085224G>C	ENST00000397910.4	-	1	6794	c.6591C>G	c.(6589-6591)aaC>aaG	p.N2197K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2197	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.N2197K(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGGATCCTTGTTCATTCTAA	0.483																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(6589-6591)AAC>AAG		mucin 16							80.0	74.0	76.0					19																	9085224		1905	4110	6015	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085224G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6591C>G	19.37:g.9085224G>C	ENSP00000381008:p.Asn2197Lys						p.N2197K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	6795	-			2197			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6591C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.310	-0.358162	0.05138	.	.	ENSG00000181143	ENST00000397910	T	0.02446	4.29	0.502	0.502	0.16932	.	.	.	.	.	T	0.01661	0.0053	N	0.08118	0	.	.	.	B	0.27625	0.183	B	0.17722	0.019	T	0.35450	-0.9788	7	0.87932	D	0	.	.	.	.	.	2197	B5ME49	.	K	2197	ENSP00000381008:N2197K	ENSP00000381008:N2197K	N	-	3	2	MUC16	8946224	0.003000	0.15002	0.018000	0.16275	0.233000	0.25261	-0.054000	0.11826	0.519000	0.28406	0.313000	0.20887	AAC		PASS	0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		31	50	31	50	---	---	---	---
ZNF709	163051	broad.mit.edu	37	19	12577614	12577614	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr19:12577614C>A	ENST00000397732.3	-	2	225	c.54G>T	c.(52-54)tgG>tgT	p.W18C	ZNF709_ENST00000428311.1_Missense_Mutation_p.W18C|CTD-3105H18.18_ENST00000598753.1_Missense_Mutation_p.W18C	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	18	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.W18*(1)|p.W18C(1)		large_intestine(3)|upper_aerodigestive_tract(3)	6						CCAGCAAAGCCCACTCCTCCT	0.478																																					GBM(33;565 669 12371 29134 51667)	uc002mtv.3																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		upper_aerodigestive_tract(1)|lung(1)		0						c.(52-54)TGG>TGT		zinc finger protein 709 isoform a							97.0	98.0	98.0					19																	12577614		2203	4300	6503	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12577614C>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.54G>T	19.37:g.12577614C>A	ENSP00000380840:p.Trp18Cys					ZNF709_uc002mtw.3_5'UTR|ZNF709_uc002mtx.3_Missense_Mutation_p.W18C	p.W18C	NM_152601	NP_689814	Q8N972	ZN709_HUMAN			2	215	-			18			KRAB.		A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.54G>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148384	0.57151	.	.	ENSG00000242852;ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000455490;ENST00000428311	T;T;T	0.10288	2.89;2.89;2.89	3.19	3.19	0.36642	Krueppel-associated box (4);	0.000000	0.33161	N	0.005203	T	0.43765	0.1262	H	0.96333	3.805	0.54753	D	0.99998	D	0.89917	1.0	D	0.97110	1.0	T	0.60546	-0.7242	10	0.72032	D	0.01	.	12.283	0.54776	0.0:1.0:0.0:0.0	.	18	Q8N972	ZN709_HUMAN	C	18;47;18	ENSP00000380840:W18C;ENSP00000398085:W47C;ENSP00000404127:W18C	ENSP00000404127:W18C	W	-	3	0	ZNF709;CTD-2192J16.17	12438614	0.969000	0.33509	1.000000	0.80357	0.972000	0.66771	2.403000	0.44530	2.099000	0.63709	0.491000	0.48974	TGG		PASS	0.478	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		52	109	52	109	---	---	---	---
PKN1	5585	broad.mit.edu	37	19	14578739	14578739	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr19:14578739C>G	ENST00000242783.6	+	15	2101	c.1936C>G	c.(1936-1938)Ctg>Gtg	p.L646V	PKN1_ENST00000342216.4_Missense_Mutation_p.L652V	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	646	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.L646V(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CATCAAGGCTCTGAAGAAAGG	0.607																																					NSCLC(185;2539 2965 10733 52867)	uc002myp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1936-1938)CTG>GTG		protein kinase N1 isoform 2							47.0	51.0	50.0					19																	14578739		1937	4125	6062	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14578739C>G	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1936C>G	19.37:g.14578739C>G	ENSP00000242783:p.Leu646Val					PKN1_uc002myq.2_Missense_Mutation_p.L652V|PKN1_uc002myr.2_5'UTR	p.L646V	NM_002741	NP_002732	Q16512	PKN1_HUMAN			15	2104	+			646			Protein kinase.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.1936C>G	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333317	0.60853	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.27402	1.67;1.67	4.62	-1.74	0.08056	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	U	0.000071	T	0.25005	0.0607	N	0.02697	-0.525	0.32647	N	0.519907	D;D	0.69078	0.996;0.997	D;D	0.85130	0.994;0.997	T	0.41161	-0.9524	10	0.72032	D	0.01	-23.9598	10.0183	0.42027	0.0:0.5068:0.0:0.4932	.	652;646	Q16512-2;Q16512	.;PKN1_HUMAN	V	646;652	ENSP00000242783:L646V;ENSP00000343325:L652V	ENSP00000242783:L646V	L	+	1	2	PKN1	14439739	1.000000	0.71417	0.939000	0.37840	0.982000	0.71751	1.343000	0.33930	-0.195000	0.10382	-0.459000	0.05422	CTG		PASS	0.607	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		20	42	20	42	---	---	---	---
NDUFB7	4713	broad.mit.edu	37	19	14682710	14682710	+	Nonsense_Mutation	SNP	T	T	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr19:14682710T>A	ENST00000215565.2	-	1	164	c.103A>T	c.(103-105)Aag>Tag	p.K35*		NM_004146.5	NP_004137.2	P17568	NDUB7_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa	35					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.K35*(1)		endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CCGCGCTCCTTGCGTTCGGGG	0.736																																						uc002mzg.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(103-105)AAG>TAG		NADH dehydrogenase (ubiquinone) 1 beta	NADH(DB00157)						21.0	21.0	21.0					19																	14682710		2202	4297	6499	SO:0001587	stop_gained	4713				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr19:14682710T>A		CCDS12314.1	19p13.12	2011-07-04	2002-08-29		ENSG00000099795	ENSG00000099795		"""Mitochondrial respiratory chain complex / Complex I"""	7702	protein-coding gene	gene with protein product	"""NADH-ubiquinone oxidoreductase B18 subunit"", ""complex I B18 subunit"""	603842	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7 (18kD, B18)"""			9763677, 10830904	Standard	NM_004146		Approved	B18, CI-B18, MGC2480	uc002mzg.3	P17568		ENST00000215565.2:c.103A>T	19.37:g.14682710T>A	ENSP00000215565:p.Lys35*						p.K35*	NM_004146	NP_004137	P17568	NDUB7_HUMAN			1	177	-			35					Q6ICN9|Q9UI16	Nonsense_Mutation	SNP	ENST00000215565.2	37	c.103A>T	CCDS12314.1	.	.	.	.	.	.	.	.	.	.	T	37	6.397698	0.97533	.	.	ENSG00000099795	ENST00000215565	.	.	.	5.24	5.24	0.73138	.	0.233115	0.41500	D	0.000863	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.64	11.4412	0.50099	0.0:0.0:0.0:1.0	.	.	.	.	X	35	.	ENSP00000215565:K35X	K	-	1	0	NDUFB7	14543710	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	2.511000	0.45476	2.204000	0.70986	0.482000	0.46254	AAG		PASS	0.736	NDUFB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466025.1	NM_004146		7	20	7	20	---	---	---	---
JAK3	3718	broad.mit.edu	37	19	17945801	17945801	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr19:17945801T>C	ENST00000527670.1	-	15	2088	c.2059A>G	c.(2059-2061)Agg>Ggg	p.R687G	JAK3_ENST00000534444.1_Missense_Mutation_p.R687G|JAK3_ENST00000458235.1_Missense_Mutation_p.R687G			P52333	JAK3_HUMAN	Janus kinase 3	687	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.R687G(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	CAGGGGATCCTGTCGGTGAGC	0.612		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	uc002nhn.3		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			acute megakaryocytic leukemia|		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						c.(2059-2061)AGG>GGG		Janus kinase 3							57.0	58.0	58.0					19																	17945801		2203	4300	6503	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17945801T>C	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2059A>G	19.37:g.17945801T>C	ENSP00000432511:p.Arg687Gly					JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Missense_Mutation_p.R687G	p.R687G	NM_000215	NP_000206	P52333	JAK3_HUMAN			16	2159	-			687			Protein kinase 1.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.2059A>G	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.618322	0.46736	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	T;T;T	0.61859	0.07;0.07;0.07	4.89	2.61	0.31194	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.71384	0.3333	M	0.73319	2.225	0.53005	D	0.999964	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	T	0.72371	-0.4314	10	0.87932	D	0	-30.4466	10.1069	0.42539	0.0:0.0:0.3836:0.6164	.	687;687	P52333-2;P52333	.;JAK3_HUMAN	G	687	ENSP00000391676:R687G;ENSP00000432511:R687G;ENSP00000436421:R687G	ENSP00000391676:R687G	R	-	1	2	JAK3	17806801	0.992000	0.36948	1.000000	0.80357	0.536000	0.34869	0.290000	0.18975	0.677000	0.31305	0.454000	0.30748	AGG		PASS	0.612	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		45	80	45	80	---	---	---	---
ZNF93	81931	broad.mit.edu	37	19	20044384	20044384	+	Missense_Mutation	SNP	G	G	T	rs540269738	byFrequency	TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr19:20044384G>T	ENST00000343769.5	+	4	648	c.620G>T	c.(619-621)gGc>gTc	p.G207V	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G207V(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						GAAGAATGTGGCAAAGCCTTT	0.363																																						uc002non.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(619-621)GGC>GTC		zinc finger protein 93							36.0	38.0	37.0					19																	20044384		2202	4298	6500	SO:0001583	missense	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20044384G>T	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.620G>T	19.37:g.20044384G>T	ENSP00000342002:p.Gly207Val						p.G207V	NM_031218	NP_112495	P35789	ZNF93_HUMAN			4	731	+			207			C2H2-type 3.		A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	c.620G>T	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	g	15.18	2.755747	0.49362	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.07567	3.18	0.131	0.131	0.14755	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30293	0.0760	M	0.92649	3.33	0.40159	D	0.97704	D	0.89917	1.0	D	0.85130	0.997	T	0.08472	-1.0720	9	0.87932	D	0	.	5.9742	0.19369	6.0E-4:0.0:0.9994:0.0	.	207	P35789	ZNF93_HUMAN	V	207	ENSP00000342002:G207V	ENSP00000342002:G207V	G	+	2	0	ZNF93	19905384	1.000000	0.71417	0.633000	0.29310	0.633000	0.38033	1.074000	0.30703	0.171000	0.19730	0.174000	0.16983	GGC		PASS	0.363	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		7	37	7	37	---	---	---	---
ZNF566	84924	broad.mit.edu	37	19	36940165	36940165	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr19:36940165G>A	ENST00000434377.2	-	5	1052	c.971C>T	c.(970-972)tCa>tTa	p.S324L	ZNF566_ENST00000454319.1_Missense_Mutation_p.S325L|ZNF566_ENST00000424129.2_Missense_Mutation_p.S324L|ZNF566_ENST00000493391.1_Missense_Mutation_p.S220L|ZNF566_ENST00000392170.2_Missense_Mutation_p.S325L	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S324L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					AATAAGTTGTGAGCTCTGACT	0.393																																						uc002oea.3																			1	Substitution - Missense(1)		lung(1)		0						c.(970-972)TCA>TTA		zinc finger protein 566 isoform 1							69.0	71.0	70.0					19																	36940165		2203	4300	6503	SO:0001583	missense	84924				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36940165G>A	AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.971C>T	19.37:g.36940165G>A	ENSP00000415520:p.Ser324Leu					ZNF566_uc010xte.1_Missense_Mutation_p.S324L|ZNF566_uc010xtf.1_Missense_Mutation_p.S325L|ZNF566_uc002oeb.3_Missense_Mutation_p.S324L|ZNF566_uc002oec.3_Missense_Mutation_p.S220L|ZNF566_uc010xtg.1_Missense_Mutation_p.S220L	p.S324L	NM_032838	NP_116227	Q969W8	ZN566_HUMAN			5	1053	-	Esophageal squamous(110;0.162)		324			C2H2-type 5.|C2H2-type 6.		B7ZL95|Q2M3J1	Missense_Mutation	SNP	ENST00000434377.2	37	c.971C>T	CCDS12494.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420329	0.42918	.	.	ENSG00000186017	ENST00000454319;ENST00000434377;ENST00000392170;ENST00000424129	T;T;T;T	0.01705	4.68;4.68;4.68;4.68	3.9	3.9	0.45041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37437	N	0.002087	T	0.07728	0.0194	M	0.81802	2.56	0.28095	N	0.931646	D;P	0.60575	0.988;0.946	P;P	0.54590	0.756;0.549	T	0.01159	-1.1433	10	0.72032	D	0.01	.	15.219	0.73296	0.0:0.0:1.0:0.0	.	325;324	B7ZL95;Q969W8	.;ZN566_HUMAN	L	325;324;325;324	ENSP00000394207:S325L;ENSP00000415520:S324L;ENSP00000376010:S325L;ENSP00000401259:S324L	ENSP00000376010:S325L	S	-	2	0	ZNF566	41632005	0.015000	0.18098	1.000000	0.80357	0.998000	0.95712	1.755000	0.38379	2.188000	0.69820	0.555000	0.69702	TCA		PASS	0.393	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000341054.1	NM_032838		22	65	22	65	---	---	---	---
LGALS13	29124	broad.mit.edu	37	19	40097920	40097920	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr19:40097920G>C	ENST00000221797.4	+	4	406	c.361G>C	c.(361-363)Gtg>Ctg	p.V121L		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	121	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)	p.V121L(1)		lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			GCCATCATTTGTGAAGATGGT	0.448																																						uc002omb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(361-363)GTG>CTG		galectin-13							195.0	147.0	163.0					19																	40097920		2203	4300	6503	SO:0001583	missense	29124				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40097920G>C	AF117383	CCDS33024.1	19q13.2	2014-03-19	2008-07-25		ENSG00000105198	ENSG00000105198		"""Lectins, galactoside-binding"""	15449	protein-coding gene	gene with protein product	"""galectin 13"""	608717				6856484, 10527825	Standard	NM_013268		Approved	PP13, PLAC8	uc002omb.3	Q9UHV8	OTTHUMG00000183073	ENST00000221797.4:c.361G>C	19.37:g.40097920G>C	ENSP00000221797:p.Val121Leu						p.V121L	NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		4	401	+	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		121			Galectin.		C5HZ15	Missense_Mutation	SNP	ENST00000221797.4	37	c.361G>C	CCDS33024.1	.	.	.	.	.	.	.	.	.	.	.	11.85	1.760851	0.31137	.	.	ENSG00000105198	ENST00000221797	T	0.06687	3.27	0.753	0.753	0.18404	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.29126	0.0724	M	0.88704	2.975	0.09310	N	1	D	0.76494	0.999	D	0.69307	0.963	T	0.03673	-1.1014	8	0.87932	D	0	.	.	.	.	.	121	Q9UHV8	PP13_HUMAN	L	121	ENSP00000221797:V121L	ENSP00000221797:V121L	V	+	1	0	LGALS13	44789760	0.178000	0.23122	0.022000	0.16811	0.042000	0.13812	1.380000	0.34351	0.664000	0.31047	0.313000	0.20887	GTG		PASS	0.448	LGALS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464968.1	NM_013268		35	69	35	69	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40362888	40362888	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr19:40362888G>A	ENST00000221347.6	-	32	15189	c.15182C>T	c.(15181-15183)gCg>gTg	p.A5061V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5061	VWFD 12. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.A5061V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGGCAGGTCGCGAAGGGGCC	0.652																																						uc002omp.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(15181-15183)GCG>GTG		Fc fragment of IgG binding protein precursor							68.0	75.0	73.0					19																	40362888		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40362888G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15182C>T	19.37:g.40362888G>A	ENSP00000221347:p.Ala5061Val						p.A5061V	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		32	15190	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5061			VWFD 12.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.15182C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.710187	0.30322	.	.	ENSG00000090920	ENST00000221347	T	0.78595	-1.19	4.68	1.18	0.20946	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.449819	0.21961	U	0.066594	D	0.85860	0.5795	M	0.89214	3.015	0.09310	N	1	D	0.65815	0.995	D	0.67103	0.949	T	0.75045	-0.3456	10	0.49607	T	0.09	.	6.0111	0.19575	0.0904:0.0:0.4274:0.4822	.	5061	Q9Y6R7	FCGBP_HUMAN	V	5061	ENSP00000221347:A5061V	ENSP00000221347:A5061V	A	-	2	0	FCGBP	45054728	0.000000	0.05858	0.002000	0.10522	0.021000	0.10359	-0.835000	0.04386	0.163000	0.19507	0.462000	0.41574	GCG		PASS	0.652	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		7	183	7	183	---	---	---	---
SHKBP1	92799	broad.mit.edu	37	19	41086788	41086788	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr19:41086788G>A	ENST00000291842.5	+	9	839	c.790G>A	c.(790-792)Ggc>Agc	p.G264S	SHKBP1_ENST00000600733.1_Missense_Mutation_p.G264S	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	264					protein homooligomerization (GO:0051260)			p.G264S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGCAGCCACCGGCAGCGAGAT	0.607																																						uc002oob.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(790-792)GGC>AGC		SH3KBP1 binding protein 1							61.0	69.0	66.0					19																	41086788		2203	4300	6503	SO:0001583	missense	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41086788G>A	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.790G>A	19.37:g.41086788G>A	ENSP00000291842:p.Gly264Ser					SHKBP1_uc002ooc.2_Missense_Mutation_p.G264S|SHKBP1_uc002ood.2_Missense_Mutation_p.G264S|SHKBP1_uc010xvl.1_Missense_Mutation_p.G187S|SHKBP1_uc002ooe.2_Missense_Mutation_p.G101S|SHKBP1_uc002oof.2_Missense_Mutation_p.G101S|SHKBP1_uc010xvm.1_Missense_Mutation_p.G101S|SHKBP1_uc010xvn.1_Missense_Mutation_p.G142S	p.G264S	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		9	839	+			264			WD 1.		Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	ENST00000291842.5	37	c.790G>A	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426122	0.25726	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.05925	3.37	4.59	2.43	0.29744	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.125722	0.52532	D	0.000078	T	0.07458	0.0188	L	0.50333	1.59	0.39748	D	0.971845	P;P;P;B;P;D;B	0.52996	0.842;0.924;0.792;0.001;0.927;0.957;0.029	B;B;B;B;P;B;B	0.45071	0.406;0.433;0.181;0.003;0.468;0.256;0.002	T	0.27468	-1.0073	10	0.49607	T	0.09	-20.3861	6.0304	0.19677	0.0905:0.0:0.4563:0.4532	.	142;101;187;101;264;264;264	B4DLI0;B4DUW2;B4DUV2;B3KVX8;Q8TBC3-2;B2R6W9;Q8TBC3	.;.;.;.;.;.;SHKB1_HUMAN	S	264;101	ENSP00000291842:G264S	ENSP00000291842:G264S	G	+	1	0	SHKBP1	45778628	0.988000	0.35896	0.857000	0.33713	0.309000	0.27889	2.449000	0.44935	0.548000	0.28955	-0.475000	0.04921	GGC		PASS	0.607	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		20	113	20	113	---	---	---	---
CYP2A13	1553	broad.mit.edu	37	19	41594547	41594547	+	Silent	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr19:41594547C>A	ENST00000330436.3	+	1	171	c.171C>A	c.(169-171)tcC>tcA	p.S57S		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	57					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.S57S(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	TGTACAACTCCCTCATGAAGG	0.612																																						uc002opt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(169-171)TCC>TCA		cytochrome P450, family 2, subfamily A,	Clomipramine(DB01242)|Nicotine(DB00184)						91.0	81.0	84.0					19																	41594547		2203	4300	6503	SO:0001819	synonymous_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41594547C>A	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.171C>A	19.37:g.41594547C>A							p.S57S	NM_000766	NP_000757	Q16696	CP2AD_HUMAN			1	180	+			57					Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	ENST00000330436.3	37	c.171C>A	CCDS12571.1																																																																																				PASS	0.612	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		26	82	26	82	---	---	---	---
ZNF229	7772	broad.mit.edu	37	19	44932887	44932887	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr19:44932887C>A	ENST00000588931.1	-	6	2502	c.2069G>T	c.(2068-2070)gGc>gTc	p.G690V	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Missense_Mutation_p.G684V|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	690					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.G690V(1)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GAATCCCTTGCCACACTGATC	0.488																																						uc002oze.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(2068-2070)GGC>GTC		zinc finger protein 229							129.0	132.0	131.0					19																	44932887		2108	4248	6356	SO:0001583	missense	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44932887C>A	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.2069G>T	19.37:g.44932887C>A	ENSP00000466519:p.Gly690Val					ZNF229_uc010ejk.1_Missense_Mutation_p.G344V|ZNF229_uc010ejl.1_Missense_Mutation_p.G684V	p.G690V	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			6	2503	-		Prostate(69;0.0352)	690			C2H2-type 14.		B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	c.2069G>T	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413048	0.83449	.	.	ENSG00000167383	ENST00000291187	T	0.38887	1.11	3.82	2.73	0.32206	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.60792	0.2296	M	0.78801	2.425	0.48975	D	0.999732	D	0.89917	1.0	D	0.85130	0.997	T	0.60672	-0.7217	9	0.87932	D	0	.	8.216	0.31511	0.0:0.7921:0.0:0.2079	.	690	Q9UJW7	ZN229_HUMAN	V	690	ENSP00000291187:G690V	ENSP00000291187:G690V	G	-	2	0	ZNF229	49624727	0.000000	0.05858	0.015000	0.15790	0.859000	0.49053	0.105000	0.15333	0.544000	0.28883	0.609000	0.83330	GGC		PASS	0.488	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		53	120	53	120	---	---	---	---
GEMIN7	79760	broad.mit.edu	37	19	45593579	45593579	+	Silent	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr19:45593579C>T	ENST00000270257.4	+	3	454	c.207C>T	c.(205-207)agC>agT	p.S69S	PPP1R37_ENST00000421905.1_5'Flank|GEMIN7_ENST00000391951.2_Silent_p.S69S|PPP1R37_ENST00000221462.4_5'Flank|GEMIN7_ENST00000591747.1_Silent_p.S69S|CTB-179K24.3_ENST00000586744.1_RNA|CTB-179K24.3_ENST00000586556.1_RNA|GEMIN7_ENST00000591607.1_Silent_p.S69S	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	69					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.S69S(1)		endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		ACCTCCGCAGCCTGCTGGCCA	0.617																																						uc002pap.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(205-207)AGC>AGT		gemin 7							44.0	42.0	42.0					19																	45593579		2203	4300	6503	SO:0001819	synonymous_variant	79760				ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr19:45593579C>T	AK024018	CCDS12654.1	19q13.32	2008-02-05				ENSG00000142252			20045	protein-coding gene	gene with protein product		607419				12065586	Standard	NM_024707		Approved	FLJ13956	uc002pap.1	Q9H840		ENST00000270257.4:c.207C>T	19.37:g.45593579C>T						uc002pas.2_5'Flank|GEMIN7_uc002paq.1_Silent_p.S69S|GEMIN7_uc002par.1_Silent_p.S69S	p.S69S	NM_001007270	NP_001007271	Q9H840	GEMI7_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0131)	3	358	+		Ovarian(192;0.0728)|all_neural(266;0.112)	69					Q6IA34	Silent	SNP	ENST00000270257.4	37	c.207C>T	CCDS12654.1																																																																																				PASS	0.617	GEMIN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457533.1			11	29	11	29	---	---	---	---
ZNF114	163071	broad.mit.edu	37	19	48789058	48789058	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr19:48789058G>T	ENST00000595607.1	+	6	671	c.177G>T	c.(175-177)caG>caT	p.Q59H	ZNF114_ENST00000600687.1_Missense_Mutation_p.Q59H|ZNF114_ENST00000597695.1_Missense_Mutation_p.Q25H|ZNF114_ENST00000315849.1_Missense_Mutation_p.Q59H			Q8NC26	ZN114_HUMAN	zinc finger protein 114	59	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q59H(1)		endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		CAACCCCTCAGCCGGATATTC	0.438																																						uc002pil.1																			1	Substitution - Missense(1)		lung(1)		0						c.(175-177)CAG>CAT		zinc finger protein 114							96.0	91.0	93.0					19																	48789058		2203	4300	6503	SO:0001583	missense	163071				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:48789058G>T	BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"""Zinc fingers, C2H2-type"", ""-"""	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.177G>T	19.37:g.48789058G>T	ENSP00000469998:p.Gln59His					ZNF114_uc010elv.1_Missense_Mutation_p.Q59H|ZNF114_uc002pim.1_Missense_Mutation_p.Q59H|ZNF114_uc002pin.2_Missense_Mutation_p.Q25H	p.Q59H	NM_153608	NP_705836	Q8NC26	ZN114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)	6	674	+		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	59			KRAB.		A8K6B0|Q08AQ6	Missense_Mutation	SNP	ENST00000595607.1	37	c.177G>T	CCDS12713.1	.	.	.	.	.	.	.	.	.	.	G	5.441	0.266409	0.10294	.	.	ENSG00000178150	ENST00000315849	T	0.05925	3.37	1.98	0.921	0.19403	Krueppel-associated box (3);	.	.	.	.	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	P	0.34724	0.465	B	0.23419	0.046	T	0.42344	-0.9457	9	0.54805	T	0.06	.	3.434	0.07438	0.1661:0.2694:0.5645:0.0	.	59	Q8NC26	ZN114_HUMAN	H	59	ENSP00000318898:Q59H	ENSP00000318898:Q59H	Q	+	3	2	ZNF114	53480870	0.000000	0.05858	0.002000	0.10522	0.132000	0.20833	0.130000	0.15850	0.406000	0.25560	0.411000	0.27672	CAG		PASS	0.438	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465601.1	NM_153608		44	92	44	92	---	---	---	---
SIGLEC14	100049587	broad.mit.edu	37	19	52147192	52147192	+	Silent	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr19:52147192C>A	ENST00000360844.6	-	5	893	c.852G>T	c.(850-852)ctG>ctT	p.L284L	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	284	Ig-like C2-type 2.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.L277L(1)|p.L284L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GGAACCAGCTCAGTGAGGCAG	0.602																																						uc002pxf.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(850-852)CTG>CTT		sialic acid binding Ig-like lectin 14 precursor							36.0	40.0	39.0					19																	52147192		1863	4068	5931	SO:0001819	synonymous_variant	100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52147192C>A	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.852G>T	19.37:g.52147192C>A							p.L284L	NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	5	972	-		all_neural(266;0.0299)	284			Extracellular (Potential).|Ig-like C2-type 2.		Q6UXG0	Silent	SNP	ENST00000360844.6	37	c.852G>T	CCDS42604.1																																																																																				PASS	0.602	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		23	54	23	54	---	---	---	---
LILRA1	11024	broad.mit.edu	37	19	55106308	55106308	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr19:55106308C>A	ENST00000251372.3	+	4	431	c.249C>A	c.(247-249)ttC>ttA	p.F83L	LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Missense_Mutation_p.F83L|LILRB1_ENST00000448689.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	83	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.F83F(1)|p.F83L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AGGGCCAGTTCCCCATCCCAT	0.567																																						uc002qgh.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	skin(2)|ovary(1)	3						c.(247-249)TTC>TTA		leukocyte immunoglobulin-like receptor,							166.0	155.0	159.0					19																	55106308		2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106308C>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.249C>A	19.37:g.55106308C>A	ENSP00000251372:p.Phe83Leu					LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.F83L	p.F83L	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	4	431	+			83			Ig-like C2-type 1.|Extracellular (Potential).		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.249C>A	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.251530	0.39797	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.00642	6.02;6.02	1.58	1.58	0.23477	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000150	T	0.03263	0.0095	M	0.89785	3.06	0.09310	N	1	D;D	0.89917	1.0;0.975	D;P	0.85130	0.997;0.802	T	0.11743	-1.0575	10	0.56958	D	0.05	.	6.6677	0.23050	0.0:1.0:0.0:0.0	.	83;83	O75019-2;O75019	.;LIRA1_HUMAN	L	83	ENSP00000251372:F83L;ENSP00000413715:F83L	ENSP00000251372:F83L	F	+	3	2	LILRA1	59798120	0.640000	0.27243	0.020000	0.16555	0.004000	0.04260	0.978000	0.29488	1.198000	0.43158	0.194000	0.17425	TTC		PASS	0.567	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		60	115	60	115	---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56422082	56422082	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr19:56422082G>T	ENST00000342929.3	-	6	2128	c.2129C>A	c.(2128-2130)tCc>tAc	p.S710Y	NLRP13_ENST00000588751.1_Missense_Mutation_p.S710Y	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	710							ATP binding (GO:0005524)	p.S710Y(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GTGCATCCTGGAATCAAACTT	0.458																																						uc010ygg.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(2128-2130)TCC>TAC		NACHT, leucine rich repeat and PYD containing							157.0	137.0	143.0					19																	56422082		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56422082G>T	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2129C>A	19.37:g.56422082G>T	ENSP00000343891:p.Ser710Tyr						p.S710Y	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	6	2154	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	710					Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.2129C>A	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.444368	0.00178	.	.	ENSG00000173572	ENST00000342929	T	0.52754	0.65	1.9	-0.548	0.11833	.	.	.	.	.	T	0.18923	0.0454	N	0.12746	0.255	0.09310	N	1	P	0.35793	0.521	B	0.29785	0.107	T	0.13442	-1.0509	9	0.13108	T	0.6	.	2.1433	0.03780	0.211:0.0:0.4883:0.3007	.	710	Q86W25	NAL13_HUMAN	Y	710	ENSP00000343891:S710Y	ENSP00000343891:S710Y	S	-	2	0	NLRP13	61113894	0.004000	0.15560	0.003000	0.11579	0.004000	0.04260	0.545000	0.23268	-0.056000	0.13221	0.543000	0.68304	TCC		PASS	0.458	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		62	118	62	118	---	---	---	---
ZNF8	7554	broad.mit.edu	37	19	58806806	58806806	+	Silent	SNP	A	A	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr19:58806806A>G	ENST00000196548.5	+	4	1763	c.1632A>G	c.(1630-1632)caA>caG	p.Q544Q	ZNF8_ENST00000608843.1_Silent_p.Q544Q|AC010642.1_ENST00000591325.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	544					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Q544Q(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		TTGACATCCAAAAAATCATGC	0.502																																						uc002qry.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1630-1632)CAA>CAG		zinc finger protein 8							43.0	46.0	45.0					19																	58806806		2201	4298	6499	SO:0001819	synonymous_variant	7554				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58806806A>G	M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"""Zinc fingers, C2H2-type"", ""-"""	13154	protein-coding gene	gene with protein product		194532	"""zinc finger protein 8 (clone HF.18)"""			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.1632A>G	19.37:g.58806806A>G						ZNF8_uc002qrz.2_RNA	p.Q544Q	NM_021089	NP_066575	P17098	ZNF8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)	4	1762	+		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)	544					Q6PI99	Silent	SNP	ENST00000196548.5	37	c.1632A>G	CCDS12974.1																																																																																				PASS	0.502	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000459135.1	NM_021089		10	79	10	79	---	---	---	---
PDYN	5173	broad.mit.edu	37	20	1961487	1961488	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr20:1961487_1961488CC>AA	ENST00000217305.2	-	4	471_472	c.246_247GG>TT	c.(244-249)ttGGgg>ttTTgg	p.82_83LG>FW	PDYN_ENST00000539905.1_Missense_Mutation_p.82_83LG>FW|PDYN_ENST00000540134.1_Missense_Mutation_p.82_83LG>FW|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	82					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.L82F(1)|p.G83W(1)|p.L82_G83>FW(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GACTTGCTCCCCAAGTCCTCCT	0.564																																						uc010gaj.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(247-249)GGG>TGG|c.(244-246)TTG>TTT		beta-neoendorphin-dynorphin preproprotein																																				SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961487C>A|g.chr20:1961488C>A		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.246_247delinsAA	20.37:g.1961487_1961488delinsAA	ENSP00000217305:p.L82_G83delinsFW					uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.G83W|PDYN_uc010zpt.1_Intron|uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.L82F|PDYN_uc010zpt.1_Intron	p.G83W|p.L82F	NM_024411	NP_077722	P01213	PDYN_HUMAN			3	489|488	-			83|82					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.247G>T|c.246G>T	CCDS13023.1																																																																																				PASS	0.564	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			63|65	61|58	63	58	---	---	---	---
TGM6	343641	broad.mit.edu	37	20	2375122	2375122	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr20:2375122G>T	ENST00000202625.2	+	2	93	c.32G>T	c.(31-33)tGg>tTg	p.W11L	TGM6_ENST00000381423.1_Missense_Mutation_p.W11L|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	11					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.W11L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AAGGTGGACTGGCAGCGGTCG	0.637																																						uc002wfy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(31-33)TGG>TTG		transglutaminase 6	L-Glutamine(DB00130)						39.0	38.0	38.0					20																	2375122		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2375122G>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.32G>T	20.37:g.2375122G>T	ENSP00000202625:p.Trp11Leu					TGM6_uc010gal.1_Missense_Mutation_p.W11L	p.W11L	NM_198994	NP_945345	O95932	TGM3L_HUMAN			2	93	+			11					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.32G>T	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	G	8.087	0.773701	0.16051	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.80738	-1.41;-1.41	4.49	4.49	0.54785	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.240794	0.36555	N	0.002540	T	0.76449	0.3989	N	0.21545	0.675	0.40745	D	0.982868	P;D	0.63046	0.663;0.992	B;P	0.61070	0.35;0.883	T	0.71784	-0.4488	10	0.02654	T	1	-10.4575	12.8657	0.57937	0.0:0.0:1.0:0.0	.	11;11	O95932-2;O95932	.;TGM3L_HUMAN	L	11	ENSP00000202625:W11L;ENSP00000370831:W11L	ENSP00000202625:W11L	W	+	2	0	TGM6	2323122	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	2.977000	0.49297	2.474000	0.83562	0.462000	0.41574	TGG		PASS	0.637	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		13	72	13	72	---	---	---	---
SIGLEC1	6614	broad.mit.edu	37	20	3673306	3673306	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr20:3673306C>T	ENST00000344754.4	-	15	3891	c.3892G>A	c.(3892-3894)Ggt>Agt	p.G1298S	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.G1298S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1298	Ig-like C2-type 13.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.G1298S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGCCAACGACCGTTGTGGTAC	0.657																																						uc002wja.2																			1	Substitution - Missense(1)		lung(1)	pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(3892-3894)GGT>AGT		sialoadhesin precursor							49.0	50.0	50.0					20																	3673306		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673306C>T	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3892G>A	20.37:g.3673306C>T	ENSP00000341141:p.Gly1298Ser					SIGLEC1_uc002wjb.1_5'UTR|SIGLEC1_uc002wiz.3_Missense_Mutation_p.G1298S	p.G1298S	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			15	3892	-			1298			Ig-like C2-type 13.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3892G>A	CCDS13060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.02|10.02	1.235692|1.235692	0.22626|0.22626	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000344754;ENST00000202578|ENST00000419548	T;T|.	0.79845|.	-1.31;-1.31|.	5.71|5.71	4.74|4.74	0.60224|0.60224	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.678801|.	0.12184|.	N|.	0.491848|.	T|T	0.53997|0.53997	0.1831|0.1831	L|L	0.52364|0.52364	1.645|1.645	0.33116|0.33116	D|D	0.541186|0.541186	P;P|.	0.49253|.	0.921;0.877|.	B;B|.	0.39339|.	0.297;0.152|.	T|T	0.63812|0.63812	-0.6552|-0.6552	10|5	0.23891|.	T|.	0.37|.	.|.	10.0557|10.0557	0.42244|0.42244	0.0:0.8931:0.0:0.1069|0.0:0.8931:0.0:0.1069	.|.	1298;1298|.	Q9BZZ2;Q9BZZ2-3|.	SN_HUMAN;.|.	S|Q	1298|111	ENSP00000341141:G1298S;ENSP00000202578:G1298S|.	ENSP00000202578:G1298S|.	G|R	-|-	1|2	0|0	SIGLEC1|SIGLEC1	3621306|3621306	0.000000|0.000000	0.05858|0.05858	0.938000|0.938000	0.37757|0.37757	0.241000|0.241000	0.25554|0.25554	-0.030000|-0.030000	0.12308|0.12308	1.299000|1.299000	0.44798|0.44798	0.655000|0.655000	0.94253|0.94253	GGT|CGG		PASS	0.657	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		12	83	12	83	---	---	---	---
CST4	1472	broad.mit.edu	37	20	23669511	23669511	+	Silent	SNP	A	A	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr20:23669511A>T	ENST00000217423.3	-	1	166	c.96T>A	c.(94-96)ggT>ggA	p.G32G		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	32		Reactive site.			detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.G32G(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CATAGATGCCACCTGGGATTA	0.562																																						uc002wto.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(94-96)GGT>GGA		cystatin S precursor							131.0	113.0	119.0					20																	23669511		2203	4300	6503	SO:0001819	synonymous_variant	1472					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23669511A>T		CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.96T>A	20.37:g.23669511A>T							p.G32G	NM_001899	NP_001890	P01036	CYTS_HUMAN			1	152	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		32				Reactive site.	Q9UBI5|Q9UCS9	Silent	SNP	ENST00000217423.3	37	c.96T>A	CCDS13159.1																																																																																				PASS	0.562	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899		24	98	24	98	---	---	---	---
NINL	22981	broad.mit.edu	37	20	25493536	25493536	+	Silent	SNP	C	C	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr20:25493536C>T	ENST00000278886.6	-	4	457	c.384G>A	c.(382-384)ccG>ccA	p.P128P	NINL_ENST00000422516.1_Silent_p.P128P	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	128					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.P128P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TTTGCTGCTCCGGCACGCGTC	0.627																																						uc002wux.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(382-384)CCG>CCA		ninein-like							46.0	49.0	48.0					20																	25493536		2203	4300	6503	SO:0001819	synonymous_variant	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25493536C>T		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.384G>A	20.37:g.25493536C>T						NINL_uc010gdn.1_Silent_p.P128P|NINL_uc010gdo.1_5'UTR|NINL_uc010ztf.1_Silent_p.P144P	p.P128P	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			4	458	-			128					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	c.384G>A	CCDS33452.1																																																																																				PASS	0.627	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		7	106	7	106	---	---	---	---
CDK5RAP1	51654	broad.mit.edu	37	20	31960462	31960462	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr20:31960462C>A	ENST00000357886.4	-	11	1442	c.1289G>T	c.(1288-1290)aGa>aTa	p.R430I	CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R416I|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.R326I|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R339I|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R416I|CDK5RAP1_ENST00000477105.1_5'Flank			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	430					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)	p.R416I(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						AATAGATTCTCTAATATGGTG	0.368																																						uc010gek.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(1288-1290)AGA>ATA		CDK5 regulatory subunit associated protein 1							115.0	110.0	112.0					20																	31960462		2203	4300	6503	SO:0001583	missense	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31960462C>A	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.1289G>T	20.37:g.31960462C>A	ENSP00000350558:p.Arg430Ile					CDK5RAP1_uc002wyy.2_Missense_Mutation_p.R326I|CDK5RAP1_uc002wyz.2_Missense_Mutation_p.R416I|CDK5RAP1_uc002wza.2_Missense_Mutation_p.R416I|CDK5RAP1_uc010gel.2_Missense_Mutation_p.R325I|CDK5RAP1_uc010gem.2_Missense_Mutation_p.R339I|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.R416I|CDK5RAP1_uc002wzb.1_Missense_Mutation_p.R51I	p.R430I	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN			11	1413	-			430					A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	ENST00000357886.4	37	c.1289G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.14|15.14	2.745619|2.745619	0.49151|0.49151	.|.	.|.	ENSG00000101391|ENSG00000101391	ENST00000427097|ENST00000346416;ENST00000357886;ENST00000339269;ENST00000452723;ENST00000375351;ENST00000544843	.|T;T;T;T;T	.|0.29655	.|1.56;1.56;1.56;1.56;1.56	5.51|5.51	5.51|5.51	0.81932|0.81932	.|Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	.|0.304109	.|0.35262	.|N	.|0.003337	.|T	.|0.66307	.|0.2776	H|H	0.96777|0.96777	3.88|3.88	0.80722|0.80722	D|D	1|1	.|D;P;D;D;D;D;D	.|0.71674	.|0.998;0.585;0.996;0.967;0.996;0.995;0.972	.|D;P;D;P;D;D;D	.|0.72982	.|0.914;0.733;0.979;0.597;0.971;0.951;0.917	.|T	.|0.75906	.|-0.3152	.|10	.|0.87932	.|D	.|0	-6.582|-6.582	10.4163|10.4163	0.44325|0.44325	0.0:0.9117:0.0:0.0883|0.0:0.9117:0.0:0.0883	.|.	.|339;430;416;156;416;416;326	.|Q96SZ6-4;Q96SZ6;Q675N5;E9PF14;Q53H36;Q96SZ6-3;Q96SZ6-2	.|.;CK5P1_HUMAN;.;.;.;.;.	X|I	85|416;430;339;326;156;416	.|ENSP00000217372:R416I;ENSP00000350558:R430I;ENSP00000341840:R339I;ENSP00000408133:R326I;ENSP00000439034:R416I	.|ENSP00000341840:R339I	E|R	-|-	1|2	0|0	CDK5RAP1|CDK5RAP1	31424123|31424123	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.725000|0.725000	0.41563|0.41563	2.150000|2.150000	0.42254|0.42254	2.612000|2.612000	0.88384|0.88384	0.551000|0.551000	0.68910|0.68910	GAG|AGA		PASS	0.368	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		29	75	29	75	---	---	---	---
BPI	671	broad.mit.edu	37	20	36954788	36954788	+	Missense_Mutation	SNP	C	C	A	rs577240929		TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr20:36954788C>A	ENST00000262865.4	+	10	1216	c.1127C>A	c.(1126-1128)gCc>gAc	p.A376D	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	376					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)	p.A376D(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CAGGCCTTTGCCGTCCTCCCC	0.592																																						uc002xib.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1126-1128)GCC>GAC		bactericidal/permeability-increasing protein							92.0	71.0	78.0					20																	36954788		2203	4300	6503	SO:0001583	missense	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36954788C>A	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.1127C>A	20.37:g.36954788C>A	ENSP00000262865:p.Ala376Asp						p.A376D	NM_001725	NP_001716	P17213	BPI_HUMAN			10	1189	+		Myeloproliferative disorder(115;0.00878)	376					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	c.1127C>A	CCDS13303.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.73|14.73	2.621993|2.621993	0.46840|0.46840	.|.	.|.	ENSG00000101425|ENSG00000101425	ENST00000262865|ENST00000417318	T|.	0.10573|.	2.86|.	4.39|4.39	0.0689|0.0689	0.14371|0.14371	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);|.	0.379729|.	0.25065|.	N|.	0.033401|.	T|T	0.54078|0.54078	0.1836|0.1836	M|M	0.79475|0.79475	2.455|2.455	0.09310|0.09310	N|N	1|1	D|.	0.89917|.	1.0|.	D|.	0.67900|.	0.954|.	T|T	0.49532|0.49532	-0.8930|-0.8930	10|5	0.72032|.	D|.	0.01|.	-6.0895|-6.0895	7.6676|7.6676	0.28441|0.28441	0.0:0.5967:0.0:0.4033|0.0:0.5967:0.0:0.4033	.|.	376|.	P17213|.	BPI_HUMAN|.	D|T	376|202	ENSP00000262865:A376D|.	ENSP00000262865:A376D|.	A|P	+|+	2|1	0|0	BPI|BPI	36388202|36388202	0.002000|0.002000	0.14202|0.14202	0.001000|0.001000	0.08648|0.08648	0.010000|0.010000	0.07245|0.07245	-0.140000|-0.140000	0.10342|0.10342	-0.043000|-0.043000	0.13513|0.13513	0.555000|0.555000	0.69702|0.69702	GCC|CCG		PASS	0.592	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		8	30	8	30	---	---	---	---
FAM65C	140876	broad.mit.edu	37	20	49218725	49218725	+	Missense_Mutation	SNP	C	C	T	rs370389293		TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr20:49218725C>T	ENST00000327979.2	-	13	1942	c.1531G>A	c.(1531-1533)Gtg>Atg	p.V511M	FAM65C_ENST00000045083.2_Missense_Mutation_p.V511M|FAM65C_ENST00000535356.1_Missense_Mutation_p.V515M			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	511								p.V511M(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCGAGGGCCACGCCAGGCCCG	0.692																																						uc002xvm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1531-1533)GTG>ATG		hypothetical protein LOC140876		C	MET/VAL	0,4406		0,0,2203	26.0	26.0	26.0		1531	-8.5	0.0	20		26	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM65C	NM_080829.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	511/947	49218725	1,13005	2203	4300	6503	SO:0001583	missense	140876							g.chr20:49218725C>T	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.1531G>A	20.37:g.49218725C>T	ENSP00000332663:p.Val511Met					FAM65C_uc010zyt.1_Missense_Mutation_p.V515M|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.V511M	p.V511M	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN			13	1849	-			511					Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	ENST00000327979.2	37	c.1531G>A	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412925	0.25465	0.0	1.16E-4	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.14391	2.51;2.51;2.51	4.23	-8.47	0.00939	.	2.051730	0.02163	N	0.058939	T	0.09069	0.0224	L	0.36672	1.1	0.09310	N	1	B;B	0.13145	0.006;0.007	B;B	0.14023	0.01;0.004	T	0.27468	-1.0073	10	0.46703	T	0.11	-0.0395	3.1752	0.06566	0.0879:0.232:0.3496:0.3305	.	515;511	F5H0X2;Q96MK2	.;FA65C_HUMAN	M	511;511;515	ENSP00000332663:V511M;ENSP00000045083:V511M;ENSP00000439802:V515M	ENSP00000045083:V511M	V	-	1	0	FAM65C	48652132	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-0.348000	0.07740	-1.343000	0.02219	-1.157000	0.01802	GTG		PASS	0.692	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			5	22	5	22	---	---	---	---
SS18L1	26039	broad.mit.edu	37	20	60738679	60738679	+	Splice_Site	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr20:60738679G>T	ENST00000331758.3	+	6	747		c.e6+1		SS18L1_ENST00000370848.4_Splice_Site|SS18L1_ENST00000421564.1_Splice_Site	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1						chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)		p.?(1)	SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			TCCCAGCAAGGTAACGCCCGG	0.706			T	SSX1	synovial sarcoma																																	uc002ycb.2				Dom	yes		20	20q13.3	26039	T	synovial sarcoma translocation gene on chromosome 18-like 1			M	SSX1		synovial sarcoma		1	Unknown(1)		lung(1)	ovary(2)	2						c.e6+1		SS18-like protein 1							11.0	13.0	13.0					20																	60738679		2172	4265	6437	SO:0001630	splice_region_variant	26039				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore		g.chr20:60738679G>T	AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.721+1G>T	20.37:g.60738679G>T						SS18L1_uc011aaa.1_Splice_Site_p.G241_splice|SS18L1_uc002ybz.1_Splice_Site|SS18L1_uc002yca.1_Splice_Site|SS18L1_uc002ycc.1_Splice_Site	p.G241_splice	NM_198935	NP_945173	O75177	CREST_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.92e-08)		6	776	+	Breast(26;3.97e-09)							A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Splice_Site	SNP	ENST00000331758.3	37	c.721_splice	CCDS13491.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080296	0.76528	.	.	ENSG00000184402	ENST00000421564;ENST00000331758;ENST00000370848	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2771	0.90087	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SS18L1	60172074	1.000000	0.71417	0.997000	0.53966	0.865000	0.49528	9.286000	0.95898	2.312000	0.78011	0.467000	0.42956	.		PASS	0.706	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080004.2		Intron	12	15	12	15	---	---	---	---
TMPRSS15	5651	broad.mit.edu	37	21	19670050	19670050	+	Splice_Site	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr21:19670050C>A	ENST00000284885.3	-	19	2295		c.e19+1			NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15							brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.?(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TAGGGACCCACCTGGGTGTTA	0.418																																						uc002ykw.2																			1	Unknown(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.e19+1		enterokinase precursor							100.0	87.0	91.0					21																	19670050		2203	4300	6503	SO:0001630	splice_region_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19670050C>A		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2261+1G>T	21.37:g.19670050C>A							p.S754_splice	NM_002772	NP_002763	P98073	ENTK_HUMAN			19	2292	-								Q2NKL7	Splice_Site	SNP	ENST00000284885.3	37	c.2261_splice	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143022	0.57044	.	.	ENSG00000154646	ENST00000284885	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4993	0.75684	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMPRSS15	18591921	1.000000	0.71417	0.991000	0.47740	0.567000	0.35839	4.265000	0.58865	2.724000	0.93272	0.643000	0.83706	.		PASS	0.418	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	Intron	8	55	8	55	---	---	---	---
AGPAT3	56894	broad.mit.edu	37	21	45391324	45391324	+	Silent	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr21:45391324G>A	ENST00000398063.2	+	6	1212	c.720G>A	c.(718-720)ctG>ctA	p.L240L	AGPAT3_ENST00000327505.2_Silent_p.L240L|AGPAT3_ENST00000398058.1_Silent_p.L240L|AGPAT3_ENST00000398061.1_Silent_p.L240L|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000291572.8_Silent_p.L240L|AGPAT3_ENST00000546158.1_Silent_p.L240L	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	240					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|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)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.L240L(1)		large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		ACCCGTCCCTGCTGGGGATCC	0.607																																					Pancreas(60;623 1650 5574 52796)	uc002zdv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(718-720)CTG>CTA		1-acylglycerol-3-phosphate O-acyltransferase 3							139.0	137.0	138.0					21																	45391324		2203	4300	6503	SO:0001819	synonymous_variant	56894				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr21:45391324G>A	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.720G>A	21.37:g.45391324G>A						AGPAT3_uc002zdw.2_Silent_p.L240L|AGPAT3_uc002zdx.2_Silent_p.L327L|AGPAT3_uc002zdy.2_Silent_p.L178L	p.L240L	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	7	942	+			240			Lumenal (Potential).		D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Silent	SNP	ENST00000398063.2	37	c.720G>A	CCDS13703.1																																																																																				PASS	0.607	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132		26	134	26	134	---	---	---	---
TRPM2	7226	broad.mit.edu	37	21	45811378	45811378	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr21:45811378G>T	ENST00000397928.1	+	11	2109	c.1664G>T	c.(1663-1665)cGc>cTc	p.R555L	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.R555L|TRPM2_ENST00000300481.9_Intron|TRPM2_ENST00000300482.5_Missense_Mutation_p.R555L	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	555					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.R555L(1)|p.R555H(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						gcggcgccccgccTGCAGATG	0.706																																						uc002zet.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1663-1665)CGC>CTC		transient receptor potential cation channel,							16.0	17.0	17.0					21																	45811378		2169	4249	6418	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45811378G>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1664G>T	21.37:g.45811378G>T	ENSP00000381023:p.Arg555Leu					TRPM2_uc002zeu.1_Missense_Mutation_p.R555L|TRPM2_uc002zew.1_Missense_Mutation_p.R555L|TRPM2_uc010gpt.1_Missense_Mutation_p.R555L|TRPM2_uc002zex.1_Missense_Mutation_p.R341L|TRPM2_uc002zey.1_Missense_Mutation_p.R68L	p.R555L	NM_003307	NP_003298	O94759	TRPM2_HUMAN			12	1877	+			555			Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.1664G>T	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	4.640	0.118990	0.08881	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000397932	T;T;T	0.62941	-0.01;-0.01;-0.01	4.63	1.2	0.21068	.	1.517800	0.03458	N	0.211825	T	0.57315	0.2045	M	0.67700	2.07	0.09310	N	1	B;B;P	0.34815	0.23;0.177;0.47	B;B;B	0.28991	0.071;0.062;0.097	T	0.46735	-0.9170	10	0.56958	D	0.05	-4.8183	4.3929	0.11350	0.3758:0.1967:0.4274:0.0	.	555;341;555	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	L	555	ENSP00000300482:R555L;ENSP00000381023:R555L;ENSP00000381026:R555L	ENSP00000300482:R555L	R	+	2	0	TRPM2	44635806	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.089000	0.15002	0.376000	0.24707	0.655000	0.94253	CGC		PASS	0.706	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		4	12	4	12	---	---	---	---
TSPEAR	54084	broad.mit.edu	37	21	45947267	45947267	+	Missense_Mutation	SNP	C	C	T	rs371482276		TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr21:45947267C>T	ENST00000323084.4	-	7	1122	c.1057G>A	c.(1057-1059)Gtc>Atc	p.V353I	TSPEAR_ENST00000397916.1_Missense_Mutation_p.V285I	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	353					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)		p.V353I(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CACTTGTAGACGGCGGATGTG	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		20254	0.001		0.0	False		,,,				2504	0.0					uc002zfe.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1057-1059)GTC>ATC		chromosome 21 open reading frame 29 precursor							271.0	249.0	257.0					21																	45947267		2203	4300	6503	SO:0001583	missense	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45947267C>T	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1057G>A	21.37:g.45947267C>T	ENSP00000321987:p.Val353Ile					C21orf29_uc010gpv.1_Missense_Mutation_p.V285I	p.V353I	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			7	1123	-			353			EAR 1.			Missense_Mutation	SNP	ENST00000323084.4	37	c.1057G>A	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.740410	0.00675	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000397916;ENST00000341581	T;T	0.13196	2.65;2.61	5.07	0.00587	0.14064	.	0.164678	0.51477	N	0.000099	T	0.02807	0.0084	N	0.01352	-0.895	0.24055	N	0.996034	B	0.09022	0.002	B	0.06405	0.002	T	0.43475	-0.9389	10	0.02654	T	1	-10.8906	5.5571	0.17123	0.0:0.3052:0.135:0.5598	.	353	Q8WU66	TSEAR_HUMAN	I	353;206;285;354	ENSP00000321987:V353I;ENSP00000381012:V285I	ENSP00000321987:V353I	V	-	1	0	TSPEAR	44771695	0.033000	0.19621	0.719000	0.30619	0.021000	0.10359	-0.225000	0.09151	0.008000	0.14787	-0.471000	0.05019	GTC		PASS	0.552	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		14	134	14	134	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	17990897	17990897	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr22:17990897A>G	ENST00000400585.2	+	8	872	c.434A>G	c.(433-435)gAc>gGc	p.D145G	CECR2_ENST00000400573.5_Missense_Mutation_p.D286G|CECR2_ENST00000262608.8_Missense_Mutation_p.D267G|CECR2_ENST00000342247.5_Intron			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	308					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.D286G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TGGATGTCTGACCACCTGTCC	0.473																																						uc010gqw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(796-798)GAC>GGC		cat eye syndrome chromosome region, candidate 2							134.0	132.0	133.0					22																	17990897		2062	4194	6256	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:17990897A>G	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.434A>G	22.37:g.17990897A>G	ENSP00000383428:p.Asp145Gly					CECR2_uc010gqv.1_Missense_Mutation_p.D145G|CECR2_uc002zml.2_Missense_Mutation_p.D145G|CECR2_uc002zmm.1_Intron	p.D266G	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	7	923	+		all_epithelial(15;0.139)	308					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.797A>G		.	.	.	.	.	.	.	.	.	.	A	10.26	1.302207	0.23736	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.55588	0.51;0.51;0.51	3.77	2.73	0.32206	.	0.912968	0.09016	N	0.860793	T	0.40372	0.1114	L	0.40543	1.245	0.38064	D	0.936152	B;B;B	0.30741	0.172;0.293;0.085	B;B;B	0.22386	0.039;0.039;0.039	T	0.18587	-1.0332	10	0.35671	T	0.21	-2.6049	7.4981	0.27500	0.8998:0.0:0.1002:0.0	.	308;145;286	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	G	145;286;267	ENSP00000383428:D145G;ENSP00000383417:D286G;ENSP00000262608:D267G	ENSP00000262608:D267G	D	+	2	0	CECR2	16370897	1.000000	0.71417	0.997000	0.53966	0.420000	0.31355	3.331000	0.52075	0.529000	0.28599	-0.334000	0.08254	GAC		PASS	0.473	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		42	130	42	130	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	18020403	18020403	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr22:18020403G>A	ENST00000400585.2	+	14	1747	c.1309G>A	c.(1309-1311)Gag>Aag	p.E437K	CECR2_ENST00000400573.5_Missense_Mutation_p.E578K|CECR2_ENST00000262608.8_Missense_Mutation_p.E579K			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	620					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.E578K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GCCCCCGCGGGAGGTGGGCAC	0.592																																						uc010gqw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1732-1734)GAG>AAG		cat eye syndrome chromosome region, candidate 2							47.0	55.0	52.0					22																	18020403		1927	4120	6047	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18020403G>A	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1309G>A	22.37:g.18020403G>A	ENSP00000383428:p.Glu437Lys					CECR2_uc010gqv.1_Missense_Mutation_p.E437K|CECR2_uc002zml.2_Missense_Mutation_p.E437K	p.E578K	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	13	1858	+		all_epithelial(15;0.139)	620					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.1732G>A		.	.	.	.	.	.	.	.	.	.	G	12.27	1.888575	0.33348	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.26810	1.82;1.82;1.71	5.74	4.71	0.59529	.	0.397148	0.21086	N	0.080416	T	0.22704	0.0548	L	0.60455	1.87	0.21499	N	0.999662	B;B;B	0.31680	0.335;0.022;0.022	B;B;B	0.25140	0.058;0.01;0.01	T	0.13629	-1.0502	10	0.17832	T	0.49	-10.8736	11.7006	0.51569	0.0:0.134:0.7265:0.1394	.	620;437;578	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	K	437;578;579	ENSP00000383428:E437K;ENSP00000383417:E578K;ENSP00000262608:E579K	ENSP00000262608:E579K	E	+	1	0	CECR2	16400403	0.084000	0.21492	0.043000	0.18650	0.160000	0.22226	1.816000	0.38992	1.419000	0.47118	0.491000	0.48974	GAG		PASS	0.592	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		37	51	37	51	---	---	---	---
DUSP18	150290	broad.mit.edu	37	22	31059940	31059940	+	Silent	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr22:31059940G>A	ENST00000334679.3	-	2	556	c.51C>T	c.(49-51)gtC>gtT	p.V17V	DUSP18_ENST00000407308.1_Silent_p.V17V|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000403268.1_Silent_p.V17V|DUSP18_ENST00000404885.1_Silent_p.V17V	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	17					peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.V17V(1)		large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						AGAGGCCGCTGACTGAGGGCT	0.567																																						uc003aiu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(49-51)GTC>GTT		dual specificity phosphatase 18							57.0	54.0	55.0					22																	31059940		2203	4300	6503	SO:0001819	synonymous_variant	150290					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:31059940G>A	AF461689	CCDS13883.1	22q12.1	2011-06-09				ENSG00000167065		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18484	protein-coding gene	gene with protein product		611446				12408986	Standard	NM_152511		Approved	DUSP20	uc003aiw.1	Q8NEJ0		ENST00000334679.3:c.51C>T	22.37:g.31059940G>A						SLC35E4_uc003ait.2_Intron|DUSP18_uc010gwa.1_RNA|DUSP18_uc003aiw.1_Silent_p.V17V	p.V17V	NM_152511	NP_689724	Q8NEJ0	DUS18_HUMAN			2	552	-			17					B3KPA4	Silent	SNP	ENST00000334679.3	37	c.51C>T	CCDS13883.1																																																																																				PASS	0.567	DUSP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321400.1			26	43	26	43	---	---	---	---
OSBP2	23762	broad.mit.edu	37	22	31091240	31091240	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr22:31091240G>A	ENST00000332585.6	+	1	448	c.344G>A	c.(343-345)gGg>gAg	p.G115E	OSBP2_ENST00000446658.2_Missense_Mutation_p.G115E|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000382310.3_Missense_Mutation_p.G115E	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	115					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)	p.G115E(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						TCAGGTGTAGGGGCTGGGCCC	0.677																																						uc003aiy.1																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(343-345)GGG>GAG		oxysterol binding protein 2 isoform a							29.0	37.0	34.0					22																	31091240		2072	4201	6273	SO:0001583	missense	23762				lipid transport	membrane	lipid binding	g.chr22:31091240G>A		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.344G>A	22.37:g.31091240G>A	ENSP00000332576:p.Gly115Glu					OSBP2_uc011ala.1_Intron|OSBP2_uc010gwc.1_Intron|OSBP2_uc003aix.1_Missense_Mutation_p.G115E|OSBP2_uc011alb.1_Missense_Mutation_p.G115E|OSBP2_uc003aiz.1_Missense_Mutation_p.G115E	p.G115E	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN			1	448	+			115					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	c.344G>A	CCDS43002.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844730	0.32606	.	.	ENSG00000184792	ENST00000332585;ENST00000382310;ENST00000446658	T;T;T	0.33654	1.46;1.4;1.46	3.58	2.53	0.30540	.	7739.210000	0.00166	N	0.000000	T	0.30978	0.0782	N	0.19112	0.55	0.18873	N	0.999989	B;B;B	0.23650	0.089;0.039;0.039	B;B;B	0.22601	0.04;0.011;0.011	T	0.38200	-0.9672	10	0.87932	D	0	.	11.708	0.51607	0.0:0.3422:0.6578:0.0	.	115;115;115	B4DFA8;Q0VF99;Q969R2	.;.;OSBP2_HUMAN	E	115	ENSP00000332576:G115E;ENSP00000371747:G115E;ENSP00000392080:G115E	ENSP00000332576:G115E	G	+	2	0	OSBP2	29421240	0.207000	0.23482	0.005000	0.12908	0.004000	0.04260	1.943000	0.40253	1.063000	0.40649	0.655000	0.94253	GGG		PASS	0.677	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		29	46	29	46	---	---	---	---
SCUBE1	80274	broad.mit.edu	37	22	43623418	43623418	+	Missense_Mutation	SNP	G	G	T	rs185039637	byFrequency	TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr22:43623418G>T	ENST00000360835.4	-	10	1295	c.1169C>A	c.(1168-1170)cCg>cAg	p.P390Q		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	390	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)	p.P390Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CCGCCTCCCCGGGGGACAGAC	0.667																																						uc003bdt.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5						c.(1168-1170)CCG>CAG		signal peptide, CUB domain, EGF-like 1							60.0	50.0	53.0					22																	43623418		2203	4300	6503	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43623418G>T		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1169C>A	22.37:g.43623418G>T	ENSP00000354080:p.Pro390Gln						p.P390Q	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN			10	1257	-		all_neural(38;0.0414)|Ovarian(80;0.07)	390			EGF-like 9; calcium-binding (Potential).		Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.1169C>A	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635132	0.47049	.	.	ENSG00000159307	ENST00000360835	D	0.91792	-2.91	3.91	2.89	0.33648	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.243570	0.42053	D	0.000769	D	0.93115	0.7808	L	0.42632	1.34	0.80722	D	1	D	0.55800	0.973	D	0.69142	0.962	D	0.92681	0.6158	10	0.62326	D	0.03	.	11.664	0.51363	0.088:0.0:0.912:0.0	.	390	Q8IWY4	SCUB1_HUMAN	Q	390	ENSP00000354080:P390Q	ENSP00000354080:P390Q	P	-	2	0	SCUBE1	41953362	1.000000	0.71417	0.205000	0.23548	0.392000	0.30506	5.343000	0.65976	0.990000	0.38787	-0.218000	0.12543	CCG		PASS	0.667	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		12	25	12	25	---	---	---	---
PNPLA3	80339	broad.mit.edu	37	22	44323026	44323026	+	Silent	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr22:44323026G>T	ENST00000216180.3	+	2	572	c.399G>T	c.(397-399)cgG>cgT	p.R133R	PNPLA3_ENST00000478713.1_3'UTR|PNPLA3_ENST00000423180.2_Silent_p.R129R	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	133	Patatin.				acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)	p.R133R(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CTGACTTTCGGTCCAAAGACG	0.498																																						uc003bei.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(397-399)CGG>CGT		patatin-like phospholipase domain containing 3							72.0	63.0	66.0					22																	44323026		2203	4300	6503	SO:0001819	synonymous_variant	80339				triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity	g.chr22:44323026G>T		CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"""Patatin-like phospholipase domain containing"""	18590	protein-coding gene	gene with protein product		609567	"""chromosome 22 open reading frame 20"", ""adiponutrin"""	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.399G>T	22.37:g.44323026G>T						PNPLA3_uc010gzm.1_RNA	p.R133R	NM_025225	NP_079501	Q9NST1	PLPL3_HUMAN			2	572	+		Ovarian(80;0.024)|all_neural(38;0.0416)	133			Lumenal (Potential).|Patatin.		B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Silent	SNP	ENST00000216180.3	37	c.399G>T	CCDS14054.1																																																																																				PASS	0.498	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318891.1	NM_025225		17	60	17	60	---	---	---	---
REPS2	9185	broad.mit.edu	37	X	17072970	17072970	+	Silent	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chrX:17072970G>T	ENST00000357277.3	+	8	1182	c.1011G>T	c.(1009-1011)ctG>ctT	p.L337L	REPS2_ENST00000303843.7_Silent_p.L336L|REPS2_ENST00000380064.4_Silent_p.L197L	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	337	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.				epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.L198L(1)|p.L337L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CCCTGACCCTGCCTGAGTTCT	0.527																																						uc004cxv.1																			2	Substitution - coding silent(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.(1009-1011)CTG>CTT		RALBP1 associated Eps domain containing 2							208.0	164.0	179.0					X																	17072970		2203	4300	6503	SO:0001819	synonymous_variant	9185				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding	g.chrX:17072970G>T	AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"""EF-hand domain containing"""	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.1011G>T	X.37:g.17072970G>T						REPS2_uc004cxw.1_Silent_p.L336L|REPS2_uc011miw.1_Silent_p.L196L	p.L337L	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN			8	1182	+	Hepatocellular(33;0.183)		337			EH 2.|EF-hand.|Potential.		A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Silent	SNP	ENST00000357277.3	37	c.1011G>T	CCDS14180.2																																																																																				PASS	0.527	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316778.1	NM_004726		24	34	24	34	---	---	---	---
NHS	4810	broad.mit.edu	37	X	17394302	17394302	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chrX:17394302A>T	ENST00000380060.3	+	1	760	c.422A>T	c.(421-423)gAc>gTc	p.D141V		NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	141	WAVE homology domain (WHD).				cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.D141V(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAGCTCTCGGACGTGGCCCGG	0.731																																						uc004cxx.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(421-423)GAC>GTC		Nance-Horan syndrome protein isoform 1							7.0	6.0	7.0					X																	17394302		1982	3770	5752	SO:0001583	missense	4810					nucleus		g.chrX:17394302A>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.422A>T	X.37:g.17394302A>T	ENSP00000369400:p.Asp141Val					NHS_uc011mix.1_Missense_Mutation_p.D141V	p.D141V	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			1	760	+	Hepatocellular(33;0.183)		141					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.422A>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	a	18.68	3.676400	0.67928	.	.	ENSG00000188158	ENST00000380060	T	0.53857	0.6	3.84	3.84	0.44239	.	0.096015	0.37348	U	0.002130	T	0.57198	0.2037	L	0.38175	1.15	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.59487	0.858;0.804	T	0.61192	-0.7112	10	0.87932	D	0	-9.7254	11.7703	0.51953	1.0:0.0:0.0:0.0	.	141;141	B7ZVX8;Q6T4R5	.;NHS_HUMAN	V	141	ENSP00000369400:D141V	ENSP00000369400:D141V	D	+	2	0	NHS	17304223	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	6.032000	0.70918	1.421000	0.47157	0.231000	0.17811	GAC		PASS	0.731	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		7	5	7	5	---	---	---	---
FAM47C	442444	broad.mit.edu	37	X	37028600	37028600	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chrX:37028600C>A	ENST00000358047.3	+	1	2169	c.2117C>A	c.(2116-2118)cCt>cAt	p.P706H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	706								p.P706H(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						CACCCAGAGCCTCCCAAGACT	0.632																																						uc004ddl.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2116-2118)CCT>CAT		hypothetical protein LOC442444							48.0	48.0	48.0					X																	37028600		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37028600C>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2117C>A	X.37:g.37028600C>A	ENSP00000367913:p.Pro706His						p.P706H	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	2131	+			706					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2117C>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	10.23	1.292661	0.23564	.	.	ENSG00000198173	ENST00000358047	T	0.23348	1.91	0.99	-1.98	0.07480	.	.	.	.	.	T	0.25044	0.0608	M	0.81341	2.54	0.09310	N	1	P	0.36110	0.537	B	0.32928	0.155	T	0.16276	-1.0408	9	0.66056	D	0.02	.	4.6199	0.12444	0.0:0.2619:0.0:0.7381	.	706	Q5HY64	FA47C_HUMAN	H	706	ENSP00000367913:P706H	ENSP00000367913:P706H	P	+	2	0	FAM47C	36938521	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	0.125000	0.15749	-0.616000	0.05671	-0.612000	0.04053	CCT		PASS	0.632	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		20	26	20	26	---	---	---	---
RLIM	51132	broad.mit.edu	37	X	73811973	73811973	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chrX:73811973C>A	ENST00000332687.6	-	4	1395	c.1177G>T	c.(1177-1179)Ggt>Tgt	p.G393C	RLIM_ENST00000349225.2_Missense_Mutation_p.G393C	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	393					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G393C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCACTTAAACCAGTATTTAAG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	uc004ebu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1177-1179)GGT>TGT		ring finger protein, LIM domain interacting							100.0	91.0	94.0					X																	73811973		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811973C>A	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1177G>T	X.37:g.73811973C>A	ENSP00000328059:p.Gly393Cys					RLIM_uc004ebw.2_Missense_Mutation_p.G393C	p.G393C	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN			5	1467	-			393					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.1177G>T	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.119375	0.37436	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.12569	2.67;2.67	5.73	5.73	0.89815	.	0.048662	0.85682	D	0.000000	T	0.39886	0.1095	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.17745	-1.0359	10	0.87932	D	0	-11.4491	18.882	0.92358	0.0:1.0:0.0:0.0	.	393	Q9NVW2	RNF12_HUMAN	C	393	ENSP00000328059:G393C;ENSP00000253571:G393C	ENSP00000328059:G393C	G	-	1	0	RLIM	73728698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.755000	0.68750	2.406000	0.81754	0.600000	0.82982	GGT		PASS	0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		29	24	29	24	---	---	---	---
SMARCA1	6594	broad.mit.edu	37	X	128650319	128650319	+	Missense_Mutation	SNP	A	A	C			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chrX:128650319A>C	ENST00000371122.4	-	3	546	c.417T>G	c.(415-417)atT>atG	p.I139M	SMARCA1_ENST00000478420.1_Intron|SMARCA1_ENST00000371121.3_Missense_Mutation_p.I139M|SMARCA1_ENST00000371123.1_Missense_Mutation_p.I139M	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	139					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.I139M(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CTCCAGCAGAAATTAAGCTCT	0.453																																						uc004eun.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(415-417)ATT>ATG		SWI/SNF-related matrix-associated							113.0	110.0	111.0					X																	128650319		2203	4300	6503	SO:0001583	missense	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128650319A>C	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.417T>G	X.37:g.128650319A>C	ENSP00000360163:p.Ile139Met					SMARCA1_uc004eup.3_Missense_Mutation_p.I139M|SMARCA1_uc011muk.1_Missense_Mutation_p.I139M|SMARCA1_uc011mul.1_Missense_Mutation_p.I139M	p.I139M	NM_003069	NP_003060	P28370	SMCA1_HUMAN			3	530	-			139					Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	c.417T>G	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.906572	0.33628	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.91124	-2.79;-2.79;-2.78;-2.78	5.37	1.21	0.21127	.	0.298503	0.23243	N	0.050337	T	0.75961	0.3921	N	0.08118	0	0.37378	D	0.911915	B;B;B;B	0.33135	0.278;0.278;0.399;0.278	B;B;B;B	0.34652	0.092;0.058;0.187;0.091	T	0.67492	-0.5657	10	0.48119	T	0.1	-3.5126	1.8494	0.03166	0.4178:0.2556:0.0745:0.2521	.	118;139;139;139	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	M	139;139;139;118	ENSP00000360162:I139M;ENSP00000360164:I139M;ENSP00000360163:I139M;ENSP00000404275:I118M	ENSP00000360162:I139M	I	-	3	3	SMARCA1	128478000	0.997000	0.39634	0.995000	0.50966	0.992000	0.81027	0.667000	0.25112	0.166000	0.19597	0.486000	0.48141	ATT		PASS	0.453	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		42	25	42	25	---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129148945	129148945	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chrX:129148945G>A	ENST00000218147.7	+	4	2394	c.2197G>A	c.(2197-2199)Gac>Aac	p.D733N	BCORL1_ENST00000303743.5_Missense_Mutation_p.D733N|BCORL1_ENST00000359304.2_Missense_Mutation_p.D733N|BCORL1_ENST00000540052.1_Missense_Mutation_p.D733N			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	733					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D733N(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCTGAACAAAGACCCCAACCT	0.597																																						uc004evb.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|lung(1)	7						c.(2197-2199)GAC>AAC		BCL6 co-repressor-like 1							97.0	79.0	85.0					X																	129148945		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129148945G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2197G>A	X.37:g.129148945G>A	ENSP00000218147:p.Asp733Asn					BCORL1_uc010nrd.1_Missense_Mutation_p.D635N	p.D733N	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			4	2311	+			733					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.2197G>A	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.309651|4.309651	0.81247|0.81247	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822|ENST00000441294	T;T;T;T;T|.	0.61040|.	0.16;0.57;0.14;0.16;0.61|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.194116|.	0.25285|.	N|.	0.031772|.	T|T	0.58991|0.58991	0.2161|0.2161	L|L	0.32530|0.32530	0.975|0.975	0.58432|0.58432	D|D	0.999996|0.999996	D;D|.	0.69078|.	0.997;0.986|.	D;P|.	0.66196|.	0.942;0.722|.	T|T	0.54977|0.54977	-0.8212|-0.8212	10|5	0.31617|.	T|.	0.26|.	-5.0121|-5.0121	18.0781|18.0781	0.89433|0.89433	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	733;733|.	Q5H9F3-2;Q5H9F3|.	.;BCORL_HUMAN|.	N|K	733;733;733;733;333|168	ENSP00000218147:D733N;ENSP00000307541:D733N;ENSP00000352253:D733N;ENSP00000437775:D733N;ENSP00000399483:D333N|.	ENSP00000218147:D733N|.	D|R	+|+	1|2	0|0	BCORL1|BCORL1	128976626|128976626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	8.674000|8.674000	0.91191|0.91191	2.205000|2.205000	0.71048|0.71048	0.436000|0.436000	0.28706|0.28706	GAC|AGA		PASS	0.597	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		12	19	12	19	---	---	---	---
GPC3	2719	broad.mit.edu	37	X	133087079	133087079	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chrX:133087079T>G	ENST00000370818.3	-	2	780	c.335A>C	c.(334-336)cAa>cCa	p.Q112P	GPC3_ENST00000394299.2_Missense_Mutation_p.Q112P|GPC3_ENST00000543339.1_Intron	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	112					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)	p.Q112P(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					GAACTCACCTTGGAAAACCGC	0.383			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													uc004exe.1			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	T|D|Mis|N|F|S	glypican 3			O		Wilms tumour			1	Substitution - Missense(1)		lung(1)	lung(2)|prostate(1)|breast(1)|skin(1)	5						c.(334-336)CAA>CCA		glypican 3 isoform 2 precursor							163.0	152.0	156.0					X																	133087079		2203	4300	6503	SO:0001583	missense	2719	Simpson-Golabi-Behmel_syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:133087079T>G	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.335A>C	X.37:g.133087079T>G	ENSP00000359854:p.Gln112Pro					GPC3_uc010nrn.1_Missense_Mutation_p.Q112P|GPC3_uc011mvh.1_Intron|GPC3_uc010nro.1_Intron|GPC3_uc010nrp.1_5'UTR	p.Q112P	NM_004484	NP_004475	P51654	GPC3_HUMAN			2	525	-	Acute lymphoblastic leukemia(192;0.000127)		112					C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	c.335A>C	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	T	16.59	3.164351	0.57476	.	.	ENSG00000147257	ENST00000370818;ENST00000394299	T;T	0.54866	0.55;0.55	5.5	5.5	0.81552	.	.	.	.	.	T	0.51822	0.1697	L	0.42245	1.32	0.80722	D	1	B;P	0.37276	0.372;0.589	B;B	0.42959	0.309;0.403	T	0.54846	-0.8232	9	0.56958	D	0.05	.	13.6977	0.62589	0.0:0.0:0.0:1.0	.	112;112	C9JLE3;P51654	.;GPC3_HUMAN	P	112	ENSP00000359854:Q112P;ENSP00000377836:Q112P	ENSP00000359854:Q112P	Q	-	2	0	GPC3	132914745	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.499000	0.81566	1.830000	0.53286	0.412000	0.27726	CAA		PASS	0.383	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		75	53	75	53	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140995924	140995924	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chrX:140995924G>T	ENST00000285879.4	+	4	3020	c.2734G>T	c.(2734-2736)Gtg>Ttg	p.V912L	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	912	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.V912L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGATGAAAAGGTGGACGAGTT	0.483										HNSCC(15;0.026)																												uc004fbt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2734-2736)GTG>TTG		melanoma antigen family C, 1							173.0	172.0	172.0					X																	140995924		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995924G>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2734G>T	X.37:g.140995924G>T	ENSP00000285879:p.Val912Leu	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_5'UTR	p.V912L	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	3020	+	Acute lymphoblastic leukemia(192;6.56e-05)		912			MAGE.		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2734G>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	9.051	0.992204	0.18966	.	.	ENSG00000155495	ENST00000285879	T	0.02472	4.28	0.837	-0.194	0.13240	.	.	.	.	.	T	0.06508	0.0167	M	0.80508	2.5	0.09310	N	1	P	0.38711	0.643	B	0.43360	0.417	T	0.18524	-1.0334	8	0.72032	D	0.01	.	.	.	.	.	912	O60732	MAGC1_HUMAN	L	912	ENSP00000285879:V912L	ENSP00000285879:V912L	V	+	1	0	MAGEC1	140823590	0.001000	0.12720	0.004000	0.12327	0.153000	0.21895	0.372000	0.20467	-0.128000	0.11641	0.279000	0.19357	GTG		PASS	0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		69	78	69	78	---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33141171	33141171	+	Frame_Shift_Del	DEL	G	G	-			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr6:33141171delG	ENST00000374708.4	-	35	2690	c.2432delC	c.(2431-2433)cctfs	p.P811fs	COL11A2_ENST00000374714.1_Frame_Shift_Del_p.P871fs|COL11A2_ENST00000374712.1_Frame_Shift_Del_p.P816fs|COL11A2_ENST00000374713.1_Frame_Shift_Del_p.P850fs|COL11A2_ENST00000341947.2_Frame_Shift_Del_p.P897fs|COL11A2_ENST00000395197.1_Frame_Shift_Del_p.P837fs|COL11A2_ENST00000357486.1_Frame_Shift_Del_p.P876fs|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Frame_Shift_Del_p.P790fs	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	897	Collagen-like 4.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ATCCTTCCCAGGGGGGCCCTG	0.597																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			0				ovary(3)|skin(2)	5						c.(2689-2691)CCTfs		collagen, type XI, alpha 2 isoform 1							47.0	52.0	50.0					6																	33141171		1511	2709	4220	SO:0001589	frameshift_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33141171delG	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2432delC	6.37:g.33141171delG	ENSP00000363840:p.Pro811fs					COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Frame_Shift_Del_p.P811fs|COL11A2_uc003ocz.1_Frame_Shift_Del_p.P790fs	p.P897fs	NM_080680	NP_542411	P13942	COBA2_HUMAN			37	2918	-			897			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Frame_Shift_Del	DEL	ENST00000374708.4	37	c.2690delC	CCDS43452.1																																																																																					0.597	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			41	28	41	28	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100833601	100833602	+	In_Frame_Ins	INS	-	-	GAC			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr8:100833601_100833602insGAC	ENST00000358544.2	+	50	9260_9261	c.9149_9150insGAC	c.(9148-9153)ctgaca>ctGACgaca	p.3051_3052insT	VPS13B_ENST00000357162.2_In_Frame_Ins_p.3026_3027insT|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3051					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTCCATAACCTGACATCTCCAA	0.396																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(9148-9150)CTG>CTGACG		vacuolar protein sorting 13B isoform 5																																				SO:0001652	inframe_insertion	157680				protein transport			g.chr8:100833601_100833602insGAC	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9150_9152dupGAC	8.37:g.100833602_100833604dupGAC	ENSP00000351346:p.Thr3051_Thr3051dup					VPS13B_uc003yiw.2_In_Frame_Ins_p.3026_3027insT	p.3051_3052insT	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		50	9260_9261	+	Breast(36;3.73e-07)		3051_3052					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	In_Frame_Ins	INS	ENST00000358544.2	37	c.9149_9150insGAC	CCDS6280.1																																																																																					0.396	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		74	62	74	62	---	---	---	---
OR5M1	390168	broad.mit.edu	37	11	56380387	56380387	+	Frame_Shift_Del	DEL	C	C	-			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr11:56380387delC	ENST00000526538.1	-	1	591	c.592delG	c.(592-594)gcafs	p.A198fs		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						ACAAACATTGCCATCTTTTTG	0.443																																						uc001nja.1																			0				central_nervous_system(1)	1						c.(592-594)GCAfs		olfactory receptor, family 5, subfamily M,							63.0	60.0	61.0					11																	56380387		1892	4114	6006	SO:0001589	frameshift_variant	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380387delC	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.592delG	11.37:g.56380387delC	ENSP00000435416:p.Ala198fs						p.A198fs	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN			1	592	-			198			Helical; Name=5; (Potential).		Q6IF60|Q96RB6	Frame_Shift_Del	DEL	ENST00000526538.1	37	c.592delG	CCDS53631.1																																																																																					0.443	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		51	32	51	32	---	---	---	---
VWA3A	146177	broad.mit.edu	37	16	22163889	22163889	+	Frame_Shift_Del	DEL	C	C	-			TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr16:22163889delC	ENST00000389398.5	+	31	3435	c.3339delC	c.(3337-3339)tgcfs	p.C1113fs	VWA3A_ENST00000389397.4_Frame_Shift_Del_p.C215fs|VWA3A_ENST00000563755.1_Frame_Shift_Del_p.C215fs	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1113	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GCTATCACTGCCCTGTGGGTG	0.557																																						uc010vbq.1																			0				skin(1)	1						c.(3337-3339)TGCfs		von Willebrand factor A domain containing 3A							45.0	45.0	45.0					16																	22163889		2022	4191	6213	SO:0001589	frameshift_variant	146177					extracellular region		g.chr16:22163889delC	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.3339delC	16.37:g.22163889delC	ENSP00000374049:p.Cys1113fs					VWA3A_uc010bxd.2_RNA|VWA3A_uc002dkg.3_Frame_Shift_Del_p.C191fs|VWA3A_uc010bxe.1_Frame_Shift_Del_p.C215fs	p.C1113fs	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	31	3435	+			1113			VWFA 2.		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Frame_Shift_Del	DEL	ENST00000389398.5	37	c.3339delC	CCDS45441.1																																																																																					0.557	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			23	10	23	10	---	---	---	---
KANK3	256949	broad.mit.edu	37	19	8398950	8398961	+	In_Frame_Del	DEL	TCGCTGTCGCCA	TCGCTGTCGCCA	-	rs111751275|rs199822445|rs201862465|rs6146458|rs200669927	byFrequency	TCGA-34-5239-01A-21D-1817-08	TCGA-34-5239-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e596912-2146-4c4f-97b6-70b610f5d4b4	57519424-2b08-4d99-b4a8-d57630c10ab4	g.chr19:8398950_8398961delTCGCTGTCGCCA	ENST00000593649.1	-	5	1532_1543	c.1467_1478delTGGCGACAGCGA	c.(1465-1479)gatggcgacagcgag>gag	p.DGDS489del	KANK3_ENST00000330915.3_In_Frame_Del_p.DGDS489del			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	489								p.D489_S492delDGDS(2)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC	0.717														1760	0.351438	0.4085	0.428	5008	,	,		15278	0.2927		0.2962	False		,,,				2504	0.3374					uc010dwa.2																			2	Deletion - In frame(2)		large_intestine(1)|breast(1)		0						c.(1465-1479)GATGGCGACAGCGAG>GAG		ankyrin repeat domain 47				958,2544		287,384,1080						-7.5	0.0		dbSNP_114	6	1402,5766		338,726,2520	no	coding	KANK3	NM_198471.2		625,1110,3600	A1A1,A1R,RR		19.5592,27.3558,22.1181				2360,8310				SO:0001651	inframe_deletion	256949							g.chr19:8398950_8398961delTCGCTGTCGCCA	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1467_1478delTGGCGACAGCGA	19.37:g.8398950_8398961delTCGCTGTCGCCA	ENSP00000470728:p.Asp489_Ser492del					KANK3_uc002mjp.1_In_Frame_Del_p.MATA1del	p.DGDS489del	NM_198471	NP_940873	Q6NY19	KANK3_HUMAN			5	1533_1544	-			489_492					Q6NZI1|Q6ZQR3|Q8IUV2	In_Frame_Del	DEL	ENST00000593649.1	37	c.1467_1478delTGGCGACAGCGA																																																																																						0.717	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		6	3	6	3	---	---	---	---
