#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
MACF1	23499	broad.mit.edu	37	1	39798958	39798958	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr1:39798958C>T	ENST00000372915.3	+	36	6800	c.6713C>T	c.(6712-6714)aCa>aTa	p.T2238I	MACF1_ENST00000564288.1_Missense_Mutation_p.T2233I|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.T673I|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.T2270I|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2238					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.T673I(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)			TTAAAGAAAACATTTCTGGCT	0.383																																						uc010oiu.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(2017-2019)ACA>ATA		microfilament and actin filament cross-linker							68.0	69.0	69.0					1																	39798958		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.chr1:39798958C>T	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.6713C>T	1.37:g.39798958C>T	ENSP00000362006:p.Thr2238Ile					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.T673I	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)		1	2149	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2238					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.2018C>T		.	.	.	.	.	.	.	.	.	.	C	0.021	-1.430615	0.01117	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.61980	0.06;1.13	5.9	-3.99	0.04069	.	2.276600	0.01564	N	0.020235	T	0.50497	0.1619	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43261	-0.9402	10	0.59425	D	0.04	.	6.9181	0.24371	0.1858:0.2909:0.0:0.5233	.	2238	Q9UPN3	MACF1_HUMAN	I	2238;673	ENSP00000362006:T2238I;ENSP00000289893:T673I	ENSP00000289893:T673I	T	+	2	0	MACF1	39571545	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.921000	0.04008	-0.746000	0.04766	-0.251000	0.11542	ACA		PASS	0.383	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		4	42	4	42	---	---	---	---
ZMYND12	84217	broad.mit.edu	37	1	42898960	42898960	+	Splice_Site	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr1:42898960C>A	ENST00000372565.3	-	7	1099		c.e7-1		ZMYND12_ENST00000475426.1_Splice_Site|ZMYND12_ENST00000433602.2_Splice_Site	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12							intracellular (GO:0005622)	metal ion binding (GO:0046872)	p.?(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGGCTTCATCTGCATTGGAA	0.463																																						uc001chj.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e7-1		zinc finger, MYND-type containing 12 isoform 1							118.0	126.0	123.0					1																	42898960		2203	4300	6503	SO:0001630	splice_region_variant	84217					intracellular	zinc ion binding	g.chr1:42898960C>A	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.830-1G>T	1.37:g.42898960C>A						ZMYND12_uc010ojt.1_Splice_Site_p.D167_splice	p.D277_splice	NM_032257	NP_115633	Q9H0C1	ZMY12_HUMAN			7	1100	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)						Q5VUS6|Q8TC87|Q96M51	Splice_Site	SNP	ENST00000372565.3	37	c.830_splice	CCDS467.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165172	0.38217	.	.	ENSG00000066185	ENST00000372565;ENST00000433602	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3515	0.87326	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZMYND12	42671547	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	4.657000	0.61490	2.696000	0.92011	0.655000	0.94253	.		PASS	0.463	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257	Intron	6	107	6	107	---	---	---	---
C1orf168	199920	broad.mit.edu	37	1	57257917	57257917	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr1:57257917C>T	ENST00000343433.6	-	2	649	c.569G>A	c.(568-570)gGa>gAa	p.G190E	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	190								p.G190E(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						AGTCTGGGCTCCTTTTGTTTC	0.463																																						uc001cym.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(568-570)GGA>GAA		hypothetical protein LOC199920							102.0	104.0	103.0					1																	57257917		2203	4300	6503	SO:0001583	missense	199920							g.chr1:57257917C>T	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.569G>A	1.37:g.57257917C>T	ENSP00000345972:p.Gly190Glu					C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Missense_Mutation_p.G190E	p.G190E	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN			2	975	-			190					Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	c.569G>A	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538258	0.27475	.	.	ENSG00000187889	ENST00000343433	T	0.30981	1.51	4.55	-1.3	0.09259	.	1.065760	0.07296	N	0.873297	T	0.12774	0.0310	N	0.14661	0.345	0.09310	N	1	B;B	0.19583	0.015;0.037	B;B	0.19148	0.016;0.024	T	0.29518	-1.0009	10	0.02654	T	1	-2.6307	4.2114	0.10514	0.0:0.3624:0.1766:0.4611	.	190;190	Q5VWT5-2;Q5VWT5	.;CA168_HUMAN	E	190	ENSP00000345972:G190E	ENSP00000345972:G190E	G	-	2	0	C1orf168	57030505	0.000000	0.05858	0.001000	0.08648	0.875000	0.50365	-0.355000	0.07671	-0.030000	0.13804	0.563000	0.77884	GGA		PASS	0.463	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		7	96	7	96	---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86252091	86252091	+	Silent	SNP	T	T	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr1:86252091T>C	ENST00000370571.2	-	48	4371	c.4005A>G	c.(4003-4005)ccA>ccG	p.P1335P	COL24A1_ENST00000436319.1_Silent_p.P1335P	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1335	Collagen-like 15.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.P1335P(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCTTTACTCCTGGAGGACCTG	0.468																																						uc001dlj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(4003-4005)CCA>CCG		collagen, type XXIV, alpha 1 precursor							96.0	98.0	97.0					1																	86252091		1837	4086	5923	SO:0001819	synonymous_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86252091T>C	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4005A>G	1.37:g.86252091T>C						COL24A1_uc001dli.2_Silent_p.P471P|COL24A1_uc010osd.1_Silent_p.P635P|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	p.P1335P	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	48	4047	-			1335			Collagen-like 15.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	ENST00000370571.2	37	c.4005A>G	CCDS41353.1																																																																																				PASS	0.468	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		15	80	15	80	---	---	---	---
REG4	83998	broad.mit.edu	37	1	120342441	120342441	+	Silent	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr1:120342441G>T	ENST00000354219.1	-	5	649	c.210C>A	c.(208-210)atC>atA	p.I70I	REG4_ENST00000256585.5_Silent_p.I70I|REG4_ENST00000530654.1_Silent_p.I70I	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	70	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|mannan binding (GO:2001065)	p.I70I(1)		central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		TTAAACTCAGGATAGATGCCA	0.498																																						uc001eig.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(208-210)ATC>ATA		regenerating islet-derived family, member 4							217.0	200.0	206.0					1																	120342441		2203	4300	6503	SO:0001819	synonymous_variant	83998					extracellular region	sugar binding	g.chr1:120342441G>T	AY007243	CCDS906.1, CCDS53354.1	1p13.1-p12	2008-02-05			ENSG00000134193	ENSG00000134193			22977	protein-coding gene	gene with protein product	"""regenerating gene type IV"", "" gastrointestinal secretory protein"""	609846				11311942, 12455032	Standard	NM_032044		Approved	REG-IV, RELP, GISP	uc001eif.3	Q9BYZ8	OTTHUMG00000012175	ENST00000354219.1:c.210C>A	1.37:g.120342441G>T						REG4_uc001eif.2_Silent_p.I70I	p.I70I	NM_001159352	NP_001152824	Q9BYZ8	REG4_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)	5	650	-	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)	70			C-type lectin.		Q8NER6|Q8NER7	Silent	SNP	ENST00000354219.1	37	c.210C>A	CCDS906.1																																																																																				PASS	0.498	REG4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033675.1	NM_032044		12	130	12	130	---	---	---	---
ADAM30	11085	broad.mit.edu	37	1	120437090	120437090	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr1:120437090C>T	ENST00000369400.1	-	1	2028	c.1870G>A	c.(1870-1872)Gtc>Atc	p.V624I		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	624	Cys-rich.				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.V624I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GAGCTATTGACGCAATTTTTT	0.453																																						uc001eij.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1870-1872)GTC>ATC		ADAM metallopeptidase domain 30 preproprotein							61.0	62.0	61.0					1																	120437090		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120437090C>T	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1870G>A	1.37:g.120437090C>T	ENSP00000358407:p.Val624Ile						p.V624I	NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	2024	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	624			Cys-rich.|Extracellular (Potential).		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.1870G>A	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720208	0.30503	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.01252	5.1	5.38	-0.189	0.13260	ADAM, cysteine-rich (1);	0.801903	0.10396	N	0.679768	T	0.00695	0.0023	M	0.75150	2.29	0.09310	N	1	P	0.43750	0.816	B	0.36030	0.216	T	0.45425	-0.9262	10	0.56958	D	0.05	.	4.5952	0.12325	0.0:0.4466:0.167:0.3864	.	624	Q9UKF2	ADA30_HUMAN	I	624	ENSP00000358407:V624I	ENSP00000358407:V624I	V	-	1	0	ADAM30	120238613	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.690000	0.05138	0.082000	0.17018	-0.345000	0.07892	GTC		PASS	0.453	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		5	58	5	58	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181686390	181686390	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr1:181686390G>A	ENST00000367573.2	+	11	1477	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	CACNA1E_ENST00000526775.1_Missense_Mutation_p.V493M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V493M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V444M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V444M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V493M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V100M	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	493					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.V493M(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CACTGCCTGTGTGGCCATTGT	0.547																																						uc001gow.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1477-1479)GTG>ATG		calcium channel, voltage-dependent, R type,							95.0	98.0	97.0					1																	181686390		2014	4179	6193	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181686390G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1477G>A	1.37:g.181686390G>A	ENSP00000356545:p.Val493Met					CACNA1E_uc009wxs.2_Missense_Mutation_p.V400M	p.V493M	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			11	1642	+			493			Helical; Name=S1 of repeat II.|II.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.1477G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	32	5.141978	0.94560	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42	5.32	5.32	0.75619	.	0.055069	0.64402	D	0.000001	D	0.98466	0.9489	M	0.79926	2.475	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.99517	1.0957	10	0.87932	D	0	.	18.9597	0.92673	0.0:0.0:1.0:0.0	.	493;493	Q15878-2;Q15878-3	.;.	M	493;493;444;444;100;493;493	ENSP00000356542:V493M;ENSP00000434814:V493M;ENSP00000350183:V444M;ENSP00000351101:V444M;ENSP00000356539:V100M;ENSP00000353222:V493M;ENSP00000356545:V493M	ENSP00000350183:V444M	V	+	1	0	CACNA1E	179953013	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.675000	0.98638	2.633000	0.89246	0.655000	0.94253	GTG		PASS	0.547	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		11	60	11	60	---	---	---	---
CFHR3	10878	broad.mit.edu	37	1	196748418	196748418	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr1:196748418C>A	ENST00000367425.4	+	2	277	c.185C>A	c.(184-186)cCt>cAt	p.P62H	CFHR3_ENST00000471440.2_Missense_Mutation_p.P62H|CFHR3_ENST00000391985.3_Missense_Mutation_p.P62H	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	62	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.P62H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						TTTGAGACTCCTTCAGGAAGT	0.393																																						uc001gtl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(184-186)CCT>CAT		complement factor H-related 3 precursor							89.0	101.0	97.0					1																	196748418		1919	4138	6057	SO:0001583	missense	10878					extracellular space		g.chr1:196748418C>A	X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.185C>A	1.37:g.196748418C>A	ENSP00000356395:p.Pro62His					CFHR3_uc001gtk.2_Missense_Mutation_p.P62H|CFHR3_uc010poy.1_Missense_Mutation_p.P62H|CFHR1_uc001gtm.2_Missense_Mutation_p.P25H	p.P62H	NM_021023	NP_066303	Q02985	FHR3_HUMAN			2	272	+			62			Sushi 1.		B4DPR0|Q9UJ16	Missense_Mutation	SNP	ENST00000367425.4	37	c.185C>A	CCDS30958.1	.	.	.	.	.	.	.	.	.	.	.	9.473	1.096078	0.20552	.	.	ENSG00000116785	ENST00000367425;ENST00000471440;ENST00000391985;ENST00000542253	T;T;T	0.71698	-0.59;-0.59;-0.59	2.86	0.862	0.19056	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.77143	0.4087	M	0.69463	2.115	0.09310	N	1	D;D;P	0.76494	0.977;0.999;0.794	D;D;P	0.73380	0.915;0.98;0.47	T	0.62548	-0.6831	9	0.66056	D	0.02	.	2.9709	0.05923	0.2719:0.573:0.0:0.1551	.	62;62;62	B4DPR0;Q02985;Q6NSD3	.;FHR3_HUMAN;.	H	62	ENSP00000356395:P62H;ENSP00000436258:P62H;ENSP00000375845:P62H	ENSP00000356395:P62H	P	+	2	0	CFHR3	195015041	0.000000	0.05858	0.003000	0.11579	0.147000	0.21601	0.019000	0.13444	0.525000	0.28522	0.184000	0.17185	CCT		PASS	0.393	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023		6	36	6	36	---	---	---	---
F13B	2165	broad.mit.edu	37	1	197024916	197024916	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr1:197024916T>A	ENST00000367412.1	-	8	1326	c.1283A>T	c.(1282-1284)tAt>tTt	p.Y428F		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	428	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.Y428F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CAGTAAGTAATATTCATTGCA	0.423																																						uc001gtt.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1282-1284)TAT>TTT		coagulation factor XIII B subunit precursor							116.0	111.0	113.0					1																	197024916		2203	4300	6503	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197024916T>A	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1283A>T	1.37:g.197024916T>A	ENSP00000356382:p.Tyr428Phe						p.Y428F	NM_001994	NP_001985	P05160	F13B_HUMAN			8	1327	-			428			Sushi 7.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.1283A>T	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.820185	0.32145	.	.	ENSG00000143278	ENST00000367412	T	0.63913	-0.07	5.98	4.86	0.63082	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.30401	N	0.009712	T	0.66597	0.2805	L	0.55103	1.725	0.21527	N	0.999655	D	0.71674	0.998	D	0.70227	0.968	T	0.56505	-0.7968	10	0.10377	T	0.69	.	5.6231	0.17467	0.1504:0.0798:0.0:0.7698	.	428	P05160	F13B_HUMAN	F	428	ENSP00000356382:Y428F	ENSP00000356382:Y428F	Y	-	2	0	F13B	195291539	1.000000	0.71417	0.218000	0.23776	0.003000	0.03518	2.548000	0.45794	1.093000	0.41377	-0.353000	0.07706	TAT		PASS	0.423	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		4	61	4	61	---	---	---	---
C1orf53	388722	broad.mit.edu	37	1	197874996	197874996	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr1:197874996G>A	ENST00000367393.3	+	2	338	c.335G>A	c.(334-336)aGa>aAa	p.R112K	C1orf53_ENST00000542800.1_3'UTR	NM_001024594.2	NP_001019765.1	Q5VUE5	CA053_HUMAN	chromosome 1 open reading frame 53	112								p.R112K(2)		endometrium(1)|lung(1)	2						CACTTGCAAAGAGGTGAATGT	0.438																																						uc001guh.2																			2	Substitution - Missense(2)		lung(2)		0						c.(334-336)AGA>AAA		hypothetical protein LOC388722							180.0	172.0	175.0					1																	197874996		2024	4198	6222	SO:0001583	missense	388722							g.chr1:197874996G>A	BC038214	CCDS44290.1	1q31.3	2011-01-26			ENSG00000203724	ENSG00000203724			30003	protein-coding gene	gene with protein product						15897902	Standard	NM_001024594		Approved		uc001guh.3	Q5VUE5	OTTHUMG00000035659	ENST00000367393.3:c.335G>A	1.37:g.197874996G>A	ENSP00000356363:p.Arg112Lys						p.R112K	NM_001024594	NP_001019765	Q5VUE5	CA053_HUMAN			2	433	+			112					A1L4N2|Q5VUE4	Missense_Mutation	SNP	ENST00000367393.3	37	c.335G>A	CCDS44290.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928848	0.73327	.	.	ENSG00000203724	ENST00000367393	.	.	.	5.73	5.73	0.89815	.	0.000000	0.64402	U	0.000003	T	0.79975	0.4539	M	0.73430	2.235	0.52501	D	0.999952	D	0.89917	1.0	D	0.83275	0.996	T	0.80596	-0.1312	9	0.59425	D	0.04	-15.7924	18.4702	0.90771	0.0:0.0:1.0:0.0	.	112	Q5VUE5	CA053_HUMAN	K	112	.	ENSP00000356363:R112K	R	+	2	0	C1orf53	196141619	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	5.976000	0.70484	2.693000	0.91896	0.655000	0.94253	AGA		PASS	0.438	C1orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086555.1	NM_001024594		9	93	9	93	---	---	---	---
PIGR	5284	broad.mit.edu	37	1	207104843	207104843	+	Splice_Site	SNP	C	C	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr1:207104843C>G	ENST00000356495.4	-	10	2381	c.2198G>C	c.(2197-2199)aGg>aCg	p.R733T	PIGR_ENST00000487208.1_5'UTR	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	733					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)	p.R733T(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCTCCTCACCCTTTTTGCCTT	0.493																																						uc001hez.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2197-2199)AGG>ACG		polymeric immunoglobulin receptor precursor							242.0	205.0	218.0					1																	207104843		2203	4300	6503	SO:0001630	splice_region_variant	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207104843C>G		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.2199+1G>C	1.37:g.207104843C>G						PIGR_uc009xbz.2_Missense_Mutation_p.R733T	p.R733T	NM_002644	NP_002635	P01833	PIGR_HUMAN			10	2382	-			733			Cytoplasmic (Potential).		Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	c.2198G>C	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558677	0.86231	.	.	ENSG00000162896	ENST00000356495	T	0.45668	0.89	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000001	T	0.64843	0.2635	M	0.71036	2.16	0.43494	D	0.995735	D	0.89917	1.0	D	0.85130	0.997	T	0.67643	-0.5618	10	0.87932	D	0	-18.3402	16.4972	0.84248	0.0:1.0:0.0:0.0	.	733	P01833	PIGR_HUMAN	T	733	ENSP00000348888:R733T	ENSP00000348888:R733T	R	-	2	0	PIGR	205171466	1.000000	0.71417	0.963000	0.40424	0.969000	0.65631	4.500000	0.60387	2.583000	0.87209	0.655000	0.94253	AGG		PASS	0.493	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644	Missense_Mutation	5	74	5	74	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216166446	216166446	+	Missense_Mutation	SNP	G	G	T	rs111033412		TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr1:216166446G>T	ENST00000307340.3	-	35	7107	c.6721C>A	c.(6721-6723)Ccc>Acc	p.P2241T	USH2A_ENST00000366943.2_Missense_Mutation_p.P2241T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2241					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.P2241T(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)		ACGCCTTCGGGTATGTCCTCG	0.507										HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(6721-6723)CCC>ACC		usherin isoform B							194.0	176.0	182.0					1																	216166446		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.chr1:216166446G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6721C>A	1.37:g.216166446G>T	ENSP00000305941:p.Pro2241Thr	HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2234		p.P2241T	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	35	7108	-			2241			Fibronectin type-III 9.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6721C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	36	5.789056	0.96945	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.63096	-0.02;-0.02	6.17	6.17	0.99709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.44688	D	0.000424	D	0.85414	0.5691	M	0.93106	3.38	0.58432	D	0.999992	D	0.89917	1.0	D	0.85130	0.997	D	0.87195	0.2237	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2241	O75445	USH2A_HUMAN	T	2241	ENSP00000305941:P2241T;ENSP00000355910:P2241T	ENSP00000305941:P2241T	P	-	1	0	USH2A	214233069	1.000000	0.71417	0.118000	0.21660	0.859000	0.49053	8.006000	0.88564	2.941000	0.99782	0.655000	0.94253	CCC		PASS	0.507	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		18	104	18	104	---	---	---	---
TGFB2	7042	broad.mit.edu	37	1	218610736	218610736	+	Missense_Mutation	SNP	G	G	T	rs147678881		TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr1:218610736G>T	ENST00000366930.4	+	6	1451	c.984G>T	c.(982-984)agG>agT	p.R328S	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366929.4_Missense_Mutation_p.R356S	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	328					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)	p.R356S(1)|p.R328S(1)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		ATTTCAAGAGGGATCTAGGGT	0.408																																						uc001hlm.2																			2	Substitution - Missense(2)		lung(2)		0						c.(982-984)AGG>AGT		transforming growth factor, beta 2 isoform 2							127.0	123.0	124.0					1																	218610736		2203	4300	6503	SO:0001583	missense	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218610736G>T	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.984G>T	1.37:g.218610736G>T	ENSP00000355897:p.Arg328Ser					TGFB2_uc001hln.2_Missense_Mutation_p.R356S|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA	p.R328S	NM_003238	NP_003229	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	6	1637	+			328					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Missense_Mutation	SNP	ENST00000366930.4	37	c.984G>T	CCDS1521.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793624	0.50102	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	T;T	0.69806	-0.43;-0.43	5.82	3.86	0.44501	Transforming growth factor-beta, C-terminal (3);	0.285942	0.41605	D	0.000843	T	0.53158	0.1779	N	0.20986	0.625	0.58432	D	0.99999	P;B	0.37573	0.6;0.18	B;B	0.40410	0.328;0.207	T	0.57791	-0.7750	10	0.87932	D	0	.	8.8497	0.35192	0.2987:0.0:0.7013:0.0	.	356;328	P61812-2;P61812	.;TGFB2_HUMAN	S	328;356	ENSP00000355897:R328S;ENSP00000355896:R356S	ENSP00000355896:R356S	R	+	3	2	TGFB2	216677359	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	0.648000	0.24828	1.373000	0.46208	-0.367000	0.07326	AGG		PASS	0.408	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		4	80	4	80	---	---	---	---
COG2	22796	broad.mit.edu	37	1	230798897	230798897	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr1:230798897C>T	ENST00000366669.4	+	4	426	c.311C>T	c.(310-312)tCg>tTg	p.S104L	COG2_ENST00000366668.3_Missense_Mutation_p.S104L|COG2_ENST00000534989.1_Missense_Mutation_p.S45L|COG2_ENST00000535166.1_5'UTR	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	104					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)	p.S104L(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				AGCCTTAGATCGTCTGTCAGT	0.308																																						uc001htw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(310-312)TCG>TTG		component of oligomeric golgi complex 2 isoform							60.0	64.0	63.0					1																	230798897		2203	4300	6503	SO:0001583	missense	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230798897C>T	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.311C>T	1.37:g.230798897C>T	ENSP00000355629:p.Ser104Leu					COG2_uc001htx.2_Missense_Mutation_p.S104L|COG2_uc010pwc.1_5'UTR	p.S104L	NM_007357	NP_031383	Q14746	COG2_HUMAN			4	462	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	104					Q86U99	Missense_Mutation	SNP	ENST00000366669.4	37	c.311C>T	CCDS1584.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956193	0.92726	.	.	ENSG00000135775	ENST00000366669;ENST00000366668;ENST00000534989	T;T;T	0.25085	1.82;1.82;1.82	5.98	5.98	0.97165	Conserved oligomeric Golgi complex, subunit 2, N-terminal (1);	0.057407	0.64402	D	0.000001	T	0.33265	0.0857	L	0.55481	1.735	0.80722	D	1	D;P	0.54964	0.969;0.812	P;B	0.44561	0.453;0.354	T	0.02093	-1.1215	10	0.44086	T	0.13	-9.574	20.4434	0.99119	0.0:1.0:0.0:0.0	.	104;104	Q86U99;Q14746	.;COG2_HUMAN	L	104;104;45	ENSP00000355629:S104L;ENSP00000355628:S104L;ENSP00000440349:S45L	ENSP00000355628:S104L	S	+	2	0	COG2	228865520	1.000000	0.71417	0.998000	0.56505	0.897000	0.52465	6.936000	0.75892	2.838000	0.97847	0.655000	0.94253	TCG		PASS	0.308	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		4	27	4	27	---	---	---	---
OR2L8	391190	broad.mit.edu	37	1	248112224	248112224	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr1:248112224T>A	ENST00000357191.3	+	1	65	c.65T>A	c.(64-66)aTt>aAt	p.I22N	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I22N(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCATCAAGAATTGACCTTTTC	0.398																																						uc001idt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(64-66)ATT>AAT		olfactory receptor, family 2, subfamily L,							202.0	186.0	191.0					1																	248112224		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112224T>A	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.65T>A	1.37:g.248112224T>A	ENSP00000349719:p.Ile22Asn					OR2L13_uc001ids.2_Intron	p.I22N	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	65	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		22			Extracellular (Potential).		Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.65T>A	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	T	4.726	0.134943	0.09032	.	.	ENSG00000196936	ENST00000357191	T	0.09255	3.0	1.48	-1.09	0.09904	.	.	.	.	.	T	0.11793	0.0287	M	0.64170	1.965	0.09310	N	1	P	0.37158	0.585	B	0.40940	0.344	T	0.27297	-1.0078	9	0.28530	T	0.3	.	5.0728	0.14615	0.0:0.6348:0.0:0.3652	.	22	Q8NGY9	OR2L8_HUMAN	N	22	ENSP00000349719:I22N	ENSP00000349719:I22N	I	+	2	0	OR2L8	246178847	0.000000	0.05858	0.002000	0.10522	0.154000	0.21943	-0.048000	0.11944	-0.115000	0.11915	0.248000	0.18094	ATT		PASS	0.398	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			11	144	11	144	---	---	---	---
PGBD2	267002	broad.mit.edu	37	1	249212547	249212547	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr1:249212547G>T	ENST00000329291.5	+	3	1911	c.1764G>T	c.(1762-1764)gaG>gaT	p.E588D	PGBD2_ENST00000355360.4_Missense_Mutation_p.E337D|PGBD2_ENST00000539153.1_Missense_Mutation_p.E585D	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	588								p.E588D(1)|p.E337D(1)		NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCTTCAGGGAGTACCACATCC	0.488																																						uc001ifh.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1762-1764)GAG>GAT		hypothetical protein LOC267002 isoform a							117.0	120.0	119.0					1																	249212547		2202	4299	6501	SO:0001583	missense	267002							g.chr1:249212547G>T	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1764G>T	1.37:g.249212547G>T	ENSP00000331643:p.Glu588Asp					PGBD2_uc001ifg.2_Missense_Mutation_p.E337D|PGBD2_uc009xhd.2_Missense_Mutation_p.E585D	p.E588D	NM_170725	NP_733843	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	1911	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	588					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.1764G>T	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	.	1.375	-0.584897	0.03827	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	D;D;D	0.84442	-1.85;-1.85;-1.85	3.22	1.33	0.21861	.	0.920672	0.08951	N	0.870026	T	0.76169	0.3950	L	0.43923	1.385	0.21184	N	0.999763	B;B	0.29085	0.232;0.003	B;B	0.29353	0.101;0.002	T	0.58405	-0.7642	10	0.14252	T	0.57	.	5.3485	0.16022	0.2669:0.0:0.7331:0.0	.	585;588	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	D	337;588;585	ENSP00000355424:E337D;ENSP00000331643:E588D;ENSP00000439950:E585D	ENSP00000331643:E588D	E	+	3	2	PGBD2	247179170	1.000000	0.71417	0.851000	0.33527	0.134000	0.20937	0.678000	0.25277	0.380000	0.24823	-0.218000	0.12543	GAG		PASS	0.488	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			8	65	8	65	---	---	---	---
SH3YL1	26751	broad.mit.edu	37	2	233210	233210	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr2:233210C>A	ENST00000405430.1	-	8	800	c.424G>T	c.(424-426)Gcc>Tcc	p.A142S	SH3YL1_ENST00000468321.1_5'UTR|SH3YL1_ENST00000403657.1_Missense_Mutation_p.A46S|SH3YL1_ENST00000403658.1_Missense_Mutation_p.A46S|SH3YL1_ENST00000356150.5_Missense_Mutation_p.A142S|SH3YL1_ENST00000415006.2_Missense_Mutation_p.A46S|SH3YL1_ENST00000403712.2_Missense_Mutation_p.A142S			Q96HL8	SH3Y1_HUMAN	SH3 and SYLF domain containing 1	142					phosphatidylinositol biosynthetic process (GO:0006661)|regulation of ruffle assembly (GO:1900027)	ruffle membrane (GO:0032587)	phosphatase binding (GO:0019902)|phosphatidylinositol binding (GO:0035091)	p.A142S(1)|p.A46S(1)		large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)		CTTCTCAGGGCCACGTTTCCT	0.483																																						uc002qvx.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(424-426)GCC>TCC		SH3 domain containing, Ysc84-like 1 isoform 1							49.0	47.0	48.0					2																	233210		1909	4141	6050	SO:0001583	missense	26751							g.chr2:233210C>A		CCDS42646.1, CCDS42646.2, CCDS54332.1, CCDS62841.1	2p25.3	2013-10-18	2013-10-18		ENSG00000035115	ENSG00000035115			29546	protein-coding gene	gene with protein product			"""SH3 domain containing, Ysc84-like 1 (S. cerevisiae)"""			21624956	Standard	NM_001282687		Approved	Ray, DKFZP586F1318	uc002qvx.3	Q96HL8	OTTHUMG00000151359	ENST00000405430.1:c.424G>T	2.37:g.233210C>A	ENSP00000384269:p.Ala142Ser					SH3YL1_uc002qvy.2_Missense_Mutation_p.A142S|SH3YL1_uc002qvz.2_RNA|SH3YL1_uc002qwa.2_RNA|SH3YL1_uc010ewe.2_Missense_Mutation_p.A46S|SH3YL1_uc002qvu.2_RNA|SH3YL1_uc002qvv.2_Missense_Mutation_p.A46S|SH3YL1_uc002qvw.2_RNA	p.A142S	NM_015677	NP_056492	Q96HL8	SH3Y1_HUMAN		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)	6	508	-	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)	142					A8K8E7|B7WNJ4|B7WPL6|Q8NEL2|Q9H5X4|Q9Y3V5	Missense_Mutation	SNP	ENST00000405430.1	37	c.424G>T		.	.	.	.	.	.	.	.	.	.	C	0.088	-1.172233	0.01646	.	.	ENSG00000035115	ENST00000415006;ENST00000403712;ENST00000403657;ENST00000405430;ENST00000356150;ENST00000403658;ENST00000454318	T;T;T;T;T;T	0.22743	2.11;2.1;2.11;1.94;1.94;2.11	5.72	1.62	0.23740	Ysc84 actin-binding domain (1);	0.547984	0.19196	N	0.120313	T	0.11965	0.0291	N	0.20845	0.615	0.30395	N	0.780601	B;B;B;B	0.14438	0.01;0.002;0.006;0.01	B;B;B;B	0.21708	0.036;0.004;0.012;0.022	T	0.35176	-0.9799	10	0.02654	T	1	-37.6972	13.8222	0.63329	0.5705:0.4295:0.0:0.0	.	46;142;142;46	Q96HL8-4;Q96HL8-2;Q96HL8;Q96HL8-3	.;.;SH3Y1_HUMAN;.	S	46;142;46;142;142;46;46	ENSP00000404143:A46S;ENSP00000384276:A142S;ENSP00000385668:A46S;ENSP00000384269:A142S;ENSP00000348471:A142S;ENSP00000383928:A46S	ENSP00000348471:A142S	A	-	1	0	SH3YL1	223210	0.782000	0.28689	0.003000	0.11579	0.019000	0.09904	1.476000	0.35420	0.005000	0.14708	0.563000	0.77884	GCC		PASS	0.483	SH3YL1-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322352.1	NM_015677		3	12	3	12	---	---	---	---
ADCY3	109	broad.mit.edu	37	2	25045432	25045432	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr2:25045432G>A	ENST00000260600.5	-	18	3802	c.2951C>T	c.(2950-2952)gCt>gTt	p.A984V	ADCY3_ENST00000405392.1_Missense_Mutation_p.A571V	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	984					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)|cellular response to glucagon stimulus (GO:0071377)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.A984V(1)		NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GACTCCTGAAGCCGCCATATA	0.537																																						uc002rfs.3																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)	4						c.(2950-2952)GCT>GTT		adenylate cyclase 3							140.0	121.0	128.0					2																	25045432		2203	4300	6503	SO:0001583	missense	109				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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25045432G>A	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2951C>T	2.37:g.25045432G>A	ENSP00000260600:p.Ala984Val					ADCY3_uc002rfr.3_Missense_Mutation_p.A571V|ADCY3_uc010ykm.1_Missense_Mutation_p.A985V	p.A984V	NM_004036	NP_004027	O60266	ADCY3_HUMAN			18	3150	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		984			Cytoplasmic (Potential).		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.2951C>T	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100369	0.94245	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	T;T	0.81163	-1.46;-1.46	5.55	5.55	0.83447	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.86401	0.5924	L	0.39147	1.195	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.87578	0.984;0.998;0.916	D	0.85489	0.1184	10	0.48119	T	0.1	.	19.2909	0.94098	0.0:0.0:1.0:0.0	.	985;984;571	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	V	984;571;959	ENSP00000260600:A984V;ENSP00000384484:A571V	ENSP00000260600:A984V	A	-	2	0	ADCY3	24898936	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.555000	0.98123	2.894000	0.99253	0.655000	0.94253	GCT		PASS	0.537	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			9	64	9	64	---	---	---	---
FAM179A	165186	broad.mit.edu	37	2	29245097	29245097	+	Silent	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr2:29245097C>A	ENST00000379558.4	+	11	1785	c.1434C>A	c.(1432-1434)gcC>gcA	p.A478A	FAM179A_ENST00000403861.2_Silent_p.A423A|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	478								p.A478A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATCTTAGAGCCTGTAAGGAGT	0.542																																						uc010ezl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1432-1434)GCC>GCA		hypothetical protein LOC165186							106.0	110.0	109.0					2																	29245097		2027	4195	6222	SO:0001819	synonymous_variant	165186						binding	g.chr2:29245097C>A	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1434C>A	2.37:g.29245097C>A						FAM179A_uc010ymm.1_Silent_p.A423A|FAM179A_uc002rmr.3_Silent_p.A5A	p.A478A	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN			11	1785	+			478					Q6ZUF5	Silent	SNP	ENST00000379558.4	37	c.1434C>A	CCDS1769.2																																																																																				PASS	0.542	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		4	62	4	62	---	---	---	---
GALNT14	79623	broad.mit.edu	37	2	31178795	31178795	+	Missense_Mutation	SNP	C	C	T	rs150208592		TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr2:31178795C>T	ENST00000349752.5	-	5	1154	c.515G>A	c.(514-516)cGc>cAc	p.R172H	GALNT14_ENST00000406653.1_Missense_Mutation_p.R152H|GALNT14_ENST00000356174.3_Missense_Mutation_p.R139H|GALNT14_ENST00000486564.1_5'Flank|GALNT14_ENST00000420311.2_Missense_Mutation_p.R137H|GALNT14_ENST00000324589.5_Missense_Mutation_p.R177H	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	172	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R172H(2)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TTCATTATTGCGCAAGCATTT	0.527																																						uc002rnr.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	upper_aerodigestive_tract(2)|skin(1)	3						c.(514-516)CGC>CAC		N-acetylgalactosaminyltransferase 14		C	HIS/ARG	0,4406		0,0,2203	254.0	234.0	241.0		515	5.3	0.9	2	dbSNP_134	241	2,8598	1.2+/-3.3	0,2,4298	no	missense	GALNT14	NM_024572.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	172/553	31178795	2,13004	2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31178795C>T	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.515G>A	2.37:g.31178795C>T	ENSP00000288988:p.Arg172His					GALNT14_uc002rnq.2_Missense_Mutation_p.R152H|GALNT14_uc002rns.2_Missense_Mutation_p.R177H|GALNT14_uc010ymr.1_Missense_Mutation_p.R137H|GALNT14_uc010ezo.1_Missense_Mutation_p.R139H|GALNT14_uc010ezp.1_Missense_Mutation_p.R143H	p.R172H	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN			5	1134	-	Acute lymphoblastic leukemia(172;0.155)		172			Lumenal (Potential).|Catalytic subdomain A.		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.515G>A	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991304	0.93106	0.0	2.33E-4	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	5.28	5.28	0.74379	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.79381	0.4436	M	0.70595	2.14	0.80722	D	1	D;P;D;D;D;D	0.89917	0.966;0.927;1.0;1.0;0.993;1.0	P;P;D;D;P;D	0.87578	0.593;0.61;0.998;0.998;0.716;0.998	T	0.80694	-0.1268	10	0.59425	D	0.04	.	18.9153	0.92503	0.0:1.0:0.0:0.0	.	137;137;139;177;172;152	F5H263;B7Z5C5;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;.;GLT14_HUMAN;.	H	172;177;152;139;137;139	ENSP00000288988:R172H;ENSP00000314500:R177H;ENSP00000385435:R152H;ENSP00000348497:R139H;ENSP00000415514:R137H;ENSP00000406399:R139H	ENSP00000314500:R177H	R	-	2	0	GALNT14	31032299	1.000000	0.71417	0.941000	0.38009	0.969000	0.65631	6.911000	0.75746	2.484000	0.83849	0.561000	0.74099	CGC		PASS	0.527	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		6	185	6	185	---	---	---	---
POLE4	56655	broad.mit.edu	37	2	75187240	75187240	+	Missense_Mutation	SNP	A	A	G	rs199691810		TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr2:75187240A>G	ENST00000483063.1	+	3	495	c.307A>G	c.(307-309)Ata>Gta	p.I103V	POLE4_ENST00000459636.1_3'UTR	NM_019896.2	NP_063949.2	Q9NR33	DPOE4_HUMAN	polymerase (DNA-directed), epsilon 4, accessory subunit	103					DNA-dependent DNA replication (GO:0006261)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|epsilon DNA polymerase complex (GO:0008622)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)	p.I103V(1)		lung(1)	1					Cladribine(DB00242)	AGATAATGCAATAGAAGCTGT	0.438													A|||	1	0.000199681	0.0	0.0	5008	,	,		19165	0.0		0.001	False		,,,				2504	0.0					uc002snf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(307-309)ATA>GTA		DNA-directed DNA polymerase epsilon 4							238.0	220.0	226.0					2																	75187240		2203	4300	6503	SO:0001583	missense	56655				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex	DNA-directed DNA polymerase activity|protein binding|sequence-specific DNA binding	g.chr2:75187240A>G	AF261688	CCDS1957.1	2p12	2012-05-18	2012-05-18		ENSG00000115350	ENSG00000115350		"""DNA polymerases"""	18755	protein-coding gene	gene with protein product		607269	"""polymerase (DNA-directed), epsilon 4 (p12 subunit)"""			10801849	Standard	NM_019896		Approved	p12	uc002snf.3	Q9NR33	OTTHUMG00000129971	ENST00000483063.1:c.307A>G	2.37:g.75187240A>G	ENSP00000420176:p.Ile103Val						p.I103V	NM_019896	NP_063949	Q9NR33	DPOE4_HUMAN			3	339	+			103					Q53TR2	Missense_Mutation	SNP	ENST00000483063.1	37	c.307A>G	CCDS1957.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	15.50	2.850936	0.51270	.	.	ENSG00000115350	ENST00000483063	T	0.34275	1.37	4.96	4.96	0.65561	Histone-fold (2);Transcription factor CBF/NF-Y/archaeal histone (1);	0.097575	0.64402	D	0.000002	T	0.27241	0.0668	N	0.25426	0.745	0.58432	D	0.999998	P	0.42735	0.788	B	0.40285	0.325	T	0.07849	-1.0751	10	0.66056	D	0.02	-3.9508	10.9424	0.47281	1.0:0.0:0.0:0.0	.	103	Q9NR33	DPOE4_HUMAN	V	103	ENSP00000420176:I103V	ENSP00000420176:I103V	I	+	1	0	POLE4	75040748	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.699000	0.74613	2.086000	0.62901	0.460000	0.39030	ATA		PASS	0.438	POLE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252237.2	NM_019896		11	92	11	92	---	---	---	---
CNGA3	1261	broad.mit.edu	37	2	99013218	99013218	+	Missense_Mutation	SNP	G	G	T	rs104893619		TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr2:99013218G>T	ENST00000272602.2	+	7	1624	c.1585G>T	c.(1585-1587)Gtg>Ttg	p.V529L	CNGA3_ENST00000436404.2_Missense_Mutation_p.V511L|CNGA3_ENST00000409937.1_Missense_Mutation_p.V533L|CNGA3_ENST00000393504.1_Missense_Mutation_p.V529L			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	529			V -> M (in ACHM2; also found in patients with cone-rod dystrophy). {ECO:0000269|PubMed:11536077, ECO:0000269|PubMed:15712225, ECO:0000269|PubMed:24903488, ECO:0000269|PubMed:9662398}.		cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.V529M(1)|p.V529L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CAAGCTGGCCGTGGTGGCTGA	0.552																																						uc002syt.2																			2	Substitution - Missense(2)	p.V529M(1)	ovary(1)|lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6	GRCh37	CM980379	CNGA3	M	rs104893619	c.(1585-1587)GTG>TTG		cyclic nucleotide gated channel alpha 3 isoform							117.0	110.0	112.0					2																	99013218		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99013218G>T	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1585G>T	2.37:g.99013218G>T	ENSP00000272602:p.Val529Leu					CNGA3_uc002syu.2_Missense_Mutation_p.V511L|CNGA3_uc010fij.2_Missense_Mutation_p.V533L	p.V529L	NM_001298	NP_001289	Q16281	CNGA3_HUMAN			8	2002	+			529		V -> M (in ACHM2).	cGMP.		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.1585G>T	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996728	0.74818	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21	5.06	5.06	0.68205	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.97359	0.9136	M	0.91140	3.18	0.80722	D	1	D;D;D	0.89917	0.99;1.0;0.999	D;D;D	0.81914	0.982;0.995;0.994	D	0.98117	1.0423	10	0.87932	D	0	.	17.3584	0.87343	0.0:0.0:1.0:0.0	.	533;511;529	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	L	529;511;529;533	ENSP00000377140:V529L;ENSP00000410070:V511L;ENSP00000272602:V529L;ENSP00000386761:V533L	ENSP00000272602:V529L	V	+	1	0	CNGA3	98379650	1.000000	0.71417	0.976000	0.42696	0.667000	0.39255	9.263000	0.95617	2.626000	0.88956	0.563000	0.77884	GTG		PASS	0.552	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		9	75	9	75	---	---	---	---
SMPD4	55627	broad.mit.edu	37	2	130918802	130918802	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr2:130918802T>C	ENST00000409031.1	-	11	2173	c.1025A>G	c.(1024-1026)tAc>tGc	p.Y342C	SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000452225.2_Missense_Mutation_p.T56A|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000431183.2_Intron|SMPD4_ENST00000339679.7_Intron|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000351288.6_Intron	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	303					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)	p.Y342C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GGCGGGGCTGTAGAGGGCGCT	0.582																																						uc002tqq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1024-1026)TAC>TGC		sphingomyelin phosphodiesterase 4 isoform 2	Phosphatidylserine(DB00144)						69.0	74.0	72.0					2																	130918802		1932	4122	6054	SO:0001583	missense	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130918802T>C	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.1025A>G	2.37:g.130918802T>C	ENSP00000386531:p.Tyr342Cys					SMPD4_uc002tqp.1_Missense_Mutation_p.Y35C|SMPD4_uc010yzy.1_Intron|SMPD4_uc010yzz.1_Intron|SMPD4_uc002tqr.1_Intron|SMPD4_uc002tqs.1_Missense_Mutation_p.Y210C|SMPD4_uc002tqt.1_Intron|SMPD4_uc010zaa.1_Intron|SMPD4_uc010zab.1_Intron|SMPD4_uc010zac.1_Missense_Mutation_p.T56A|SMPD4_uc010zad.1_Intron	p.Y342C	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN			11	1545	-	Colorectal(110;0.1)		303					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	37	c.1025A>G	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	16.37|16.37	3.105029|3.105029	0.56291|0.56291	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000439886;ENST00000452225|ENST00000409031	.|.	.|.	.|.	3.7|3.7	3.7|3.7	0.42460|0.42460	.|.	.|0.300125	.|0.31210	.|U	.|0.008051	T|T	0.14184|0.14184	0.0343|0.0343	N|N	0.00926|0.00926	-1.1|-1.1	0.80722|0.80722	D|D	1|1	P|B;P	0.45715|0.42620	0.865|0.0;0.785	B|B;B	0.41412|0.36504	0.356|0.0;0.226	T|T	0.11665|0.11665	-1.0578|-1.0578	7|9	.|0.38643	.|T	.|0.18	.|.	10.3912|10.3912	0.44168|0.44168	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	56|342;303	B4DQ31|B1PBA3;Q9NXE4-4	.|.;.	A|C	171;56|342	.|.	.|ENSP00000386531:Y342C	T|Y	-|-	1|2	0|0	SMPD4|SMPD4	130635272|130635272	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	4.075000|4.075000	0.57584|0.57584	1.527000|1.527000	0.49086|0.49086	0.455000|0.455000	0.32223|0.32223	ACA|TAC		PASS	0.582	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		6	73	6	73	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168104927	168104927	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr2:168104927C>A	ENST00000409195.1	+	9	7114	c.7025C>A	c.(7024-7026)cCa>cAa	p.P2342Q	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2120Q|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2342Q|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2167					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.P2342Q(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAAGTTTTCCAGGCCTCCCT	0.463																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(7024-7026)CCA>CAA		xin actin-binding repeat containing 2 isoform 1							135.0	138.0	137.0					2																	168104927		1878	4103	5981	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168104927C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7025C>A	2.37:g.168104927C>A	ENSP00000386840:p.Pro2342Gln					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.P2167Q|XIRP2_uc010fpq.2_Missense_Mutation_p.P2120Q|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	p.P2342Q	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	7043	+			2167			Pro-rich.		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.7025C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993347	0.74703	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.04156	3.69;3.69;3.69	5.95	5.95	0.96441	.	0.290007	0.32002	N	0.006736	T	0.19046	0.0457	M	0.62723	1.935	0.38844	D	0.956137	D;D;D	0.67145	0.993;0.996;0.996	P;D;D	0.66351	0.843;0.925;0.943	T	0.00027	-1.2307	10	0.54805	T	0.06	-8.5189	17.887	0.88858	0.0:1.0:0.0:0.0	.	2167;2167;2120	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Q	2342;2342;2120	ENSP00000386840:P2342Q;ENSP00000295237:P2342Q;ENSP00000387255:P2120Q	ENSP00000295237:P2342Q	P	+	2	0	XIRP2	167813173	0.163000	0.22920	0.895000	0.35142	0.687000	0.40016	2.113000	0.41902	2.824000	0.97209	0.655000	0.94253	CCA		PASS	0.463	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		10	113	10	113	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179480100	179480100	+	Missense_Mutation	SNP	A	A	G	rs372753303		TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr2:179480100A>G	ENST00000591111.1	-	209	43873	c.43649T>C	c.(43648-43650)aTa>aCa	p.I14550T	TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000359218.5_Missense_Mutation_p.I7251T|TTN_ENST00000460472.2_Missense_Mutation_p.I7126T|TTN_ENST00000342992.6_Missense_Mutation_p.I13623T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I16191T|TTN_ENST00000342175.6_Missense_Mutation_p.I7318T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14550	Fibronectin type-III 5. {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.I13623T(2)|p.I7126T(1)|p.I7251T(1)|p.I7318T(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)			TCTTTCAACTATATATCCTTT	0.403																																						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.(40867-40869)ATA>ACA		titin isoform N2-A		A	THR/ILE,THR/ILE,THR/ILE,THR/ILE	0,3824		0,0,1912	184.0	179.0	181.0		21953,21752,40868,21377	6.0	0.9	2		181	1,8263		0,1,4131	no	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	89,89,89,89	0,1,6043	GG,GA,AA		0.0121,0.0,0.0083	benign,benign,benign,benign	7318/27119,7251/27052,13623/33424,7126/26927	179480100	1,12087	1912	4132	6044	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179480100A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43649T>C	2.37:g.179480100A>G	ENSP00000465570:p.Ile14550Thr					uc002ump.1_RNA|TTN_uc010zfh.1_Missense_Mutation_p.I7318T|TTN_uc010zfi.1_Missense_Mutation_p.I7251T|TTN_uc010zfj.1_Missense_Mutation_p.I7126T	p.I13623T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		208	41092	-			14550					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.40868T>C		.	.	.	.	.	.	.	.	.	.	A	11.89	1.772609	0.31411	0.0	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.96	5.96	0.96718	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56470	0.1987	M	0.67953	2.075	0.41698	D	0.989385	B;B;B;B	0.21381	0.055;0.055;0.055;0.055	B;B;B;B	0.27076	0.076;0.076;0.076;0.076	T	0.57148	-0.7861	9	0.87932	D	0	.	16.4277	0.83824	1.0:0.0:0.0:0.0	.	7126;7251;7318;14550	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	13623;7126;7318;7251;7126	ENSP00000343764:I13623T;ENSP00000434586:I7126T;ENSP00000340554:I7318T;ENSP00000352154:I7251T	ENSP00000340554:I7318T	I	-	2	0	TTN	179188345	1.000000	0.71417	0.935000	0.37517	0.989000	0.77384	3.989000	0.56958	2.279000	0.76181	0.533000	0.62120	ATA		PASS	0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	95	14	95	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179586757	179586757	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr2:179586757G>A	ENST00000591111.1	-	76	21906	c.21682C>T	c.(21682-21684)Cga>Tga	p.R7228*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.R6301*|TTN_ENST00000589042.1_Nonsense_Mutation_p.R7545*|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12796	Ig-like 54.				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.R6301*(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)			CAAGTGATTCGCATCGGTTGA	0.408																																						uc010zfg.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(18901-18903)CGA>TGA		titin isoform N2-A							248.0	235.0	239.0					2																	179586757		1952	4141	6093	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179586757G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.21682C>T	2.37:g.179586757G>A	ENSP00000465570:p.Arg7228*					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.R2962*	p.R6301*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		75	19125	-			7228					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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.18901C>T		.	.	.	.	.	.	.	.	.	.	G	58	31.163609	0.99978	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.16	-5.7	0.02421	.	.	.	.	.	.	.	.	.	.	.	0.45390	D	0.998377	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	23.6453	0.99984	0.0:0.0:0.2283:0.7717	.	.	.	.	X	6301	.	ENSP00000343764:R6301X	R	-	1	2	TTN	179295002	0.014000	0.17966	0.975000	0.42487	0.967000	0.64934	-0.358000	0.07641	-0.714000	0.04975	-0.284000	0.09977	CGA		PASS	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	148	8	148	---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189904261	189904261	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr2:189904261C>G	ENST00000374866.3	-	51	3936	c.3662G>C	c.(3661-3663)gGc>gCc	p.G1221A		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1221					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.G1221A(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACCCGGAGGGCCAGGTGGGCC	0.478																																						uc002uqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3661-3663)GGC>GCC		alpha 2 type V collagen preproprotein							23.0	25.0	24.0					2																	189904261		2202	4299	6501	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189904261C>G	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3662G>C	2.37:g.189904261C>G	ENSP00000364000:p.Gly1221Ala					COL5A2_uc010frx.2_Missense_Mutation_p.G797A	p.G1221A	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		51	3937	-			1221					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.3662G>C	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984680	0.74474	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99607	-6.27	5.28	5.28	0.74379	.	0.000000	0.49305	D	0.000147	D	0.99819	0.9920	H	0.97829	4.085	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	D	0.96835	0.9614	10	0.62326	D	0.03	.	18.9001	0.92439	0.0:1.0:0.0:0.0	.	861;1221	Q5PR22;P05997	.;CO5A2_HUMAN	A	1221;861	ENSP00000364000:G1221A	ENSP00000364000:G1221A	G	-	2	0	COL5A2	189612506	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	7.814000	0.86154	2.451000	0.82905	0.655000	0.94253	GGC		PASS	0.478	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		3	16	3	16	---	---	---	---
MYO1B	4430	broad.mit.edu	37	2	192206227	192206227	+	Silent	SNP	T	T	C	rs538116520		TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr2:192206227T>C	ENST00000392318.3	+	5	634	c.387T>C	c.(385-387)tgT>tgC	p.C129C	MYO1B_ENST00000392316.1_Silent_p.C129C|MYO1B_ENST00000339514.4_Silent_p.C129C|MYO1B_ENST00000304164.4_Silent_p.C129C	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	129	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.C129C(2)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CAGCTGTTTGTGGAAAAGGAG	0.393													T|||	1	0.000199681	0.0	0.0	5008	,	,		17773	0.001		0.0	False		,,,				2504	0.0					uc010fsg.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(5)|large_intestine(2)|ovary(1)	8						c.(385-387)TGT>TGC		myosin IB isoform 1							126.0	118.0	120.0					2																	192206227		2203	4300	6503	SO:0001819	synonymous_variant	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192206227T>C	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.387T>C	2.37:g.192206227T>C						MYO1B_uc002usq.2_Silent_p.C129C|MYO1B_uc002usr.2_Silent_p.C129C|MYO1B_uc002uss.1_Silent_p.C129C	p.C129C	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		5	642	+			129			Myosin head-like.		O43794|Q7Z6L5	Silent	SNP	ENST00000392318.3	37	c.387T>C	CCDS46477.1																																																																																				PASS	0.393	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		7	61	7	61	---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209217385	209217385	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr2:209217385C>T	ENST00000264380.4	+	39	5881	c.5723C>T	c.(5722-5724)aCg>aTg	p.T1908M		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1908	Catalytic.|PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.T1908M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TAGAGGCCCACGGCGTTGGCC	0.328																																						uc002vcz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(5722-5724)ACG>ATG		phosphatidylinositol-3-phosphate 5-kinase type							59.0	62.0	61.0					2																	209217385		2202	4300	6502	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209217385C>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.5723C>T	2.37:g.209217385C>T	ENSP00000264380:p.Thr1908Met						p.T1908M	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			39	5881	+			1908			Catalytic.|PIPK.		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.5723C>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466440	0.63625	.	.	ENSG00000115020	ENST00000264380	T	0.53206	0.63	5.46	5.46	0.80206	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.79505	0.4457	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85773	0.1356	10	0.87932	D	0	-16.3987	19.2883	0.94087	0.0:1.0:0.0:0.0	.	1908	Q9Y2I7	FYV1_HUMAN	M	1908	ENSP00000264380:T1908M	ENSP00000264380:T1908M	T	+	2	0	PIKFYVE	208925630	1.000000	0.71417	0.581000	0.28614	0.227000	0.25037	7.666000	0.83877	2.543000	0.85770	0.655000	0.94253	ACG		PASS	0.328	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		8	47	8	47	---	---	---	---
UNC80	285175	broad.mit.edu	37	2	210642091	210642091	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr2:210642091C>G	ENST00000439458.1	+	4	488	c.408C>G	c.(406-408)gaC>gaG	p.D136E	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.6_Missense_Mutation_p.D136E	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	136					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D136E(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GGGGTACAGACCGAGGCTCCA	0.547																																						uc010zjc.1																			2	Substitution - Missense(2)		lung(2)		0						c.(406-408)GAC>GAG		chromosome 2 open reading frame 21 isoform 1							56.0	61.0	59.0					2																	210642091		2203	4300	6503	SO:0001583	missense	285175					integral to membrane		g.chr2:210642091C>G	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.408C>G	2.37:g.210642091C>G	ENSP00000391088:p.Asp136Glu					UNC80_uc002vdj.1_Missense_Mutation_p.D136E	p.D136E	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN			4	488	+			136					B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	37	c.408C>G	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.525881	0.44969	.	.	ENSG00000144406	ENST00000439458;ENST00000281753;ENST00000272845	T;T	0.29397	1.57;1.57	6.08	1.06	0.20224	.	0.076373	0.53938	D	0.000041	T	0.21631	0.0521	L	0.39898	1.24	0.80722	D	1	P;B	0.39847	0.691;0.001	B;B	0.40940	0.344;0.004	T	0.02603	-1.1135	10	0.30854	T	0.27	.	5.4838	0.16739	0.128:0.6002:0.0:0.2718	.	136;136	Q8N2C7;Q8N2C7-3	UNC80_HUMAN;.	E	136	ENSP00000391088:D136E;ENSP00000272845:D136E	ENSP00000272845:D136E	D	+	3	2	UNC80	210350336	0.967000	0.33354	1.000000	0.80357	0.988000	0.76386	0.653000	0.24902	0.458000	0.26988	-0.137000	0.14449	GAC		PASS	0.547	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587		6	53	6	53	---	---	---	---
KCNE4	23704	broad.mit.edu	37	2	223917594	223917594	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr2:223917594G>T	ENST00000281830.3	+	2	530	c.199G>T	c.(199-201)Gcc>Tcc	p.A67S	KCNE4_ENST00000488477.2_Intron|KCNE4_ENST00000604125.1_Missense_Mutation_p.A16S			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	67						apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	voltage-gated potassium channel activity (GO:0005249)	p.A16S(1)		large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		CGGCACCGCCGCCTCCAGCAG	0.617																																						uc002vnl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(46-48)GCC>TCC		potassium voltage-gated channel, Isk-related							39.0	38.0	38.0					2																	223917594		2201	4296	6497	SO:0001583	missense	23704					integral to membrane	voltage-gated potassium channel activity	g.chr2:223917594G>T	AY065987	CCDS2456.1, CCDS2456.2	2q36.1	2008-02-05			ENSG00000152049	ENSG00000152049		"""Potassium channels"""	6244	protein-coding gene	gene with protein product		607775				10219239, 12670483	Standard	NM_080671		Approved	MiRP3	uc002vnl.5	Q8WWG9	OTTHUMG00000133161	ENST00000281830.3:c.199G>T	2.37:g.223917594G>T	ENSP00000281830:p.Ala67Ser						p.A16S	NM_080671	NP_542402	Q8WWG9	KCNE4_HUMAN		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	200	+		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)	16					B7Z275|Q53SM4|Q96CC4	Missense_Mutation	SNP	ENST00000281830.3	37	c.46G>T		.	.	.	.	.	.	.	.	.	.	G	15.74	2.924121	0.52653	.	.	ENSG00000152049	ENST00000281830	.	.	.	5.65	1.6	0.23607	.	0.858603	0.10654	N	0.649620	T	0.32615	0.0835	L	0.54323	1.7	0.23132	N	0.998246	B	0.17038	0.02	B	0.22880	0.042	T	0.30794	-0.9966	9	0.20519	T	0.43	-5.1	3.2515	0.06816	0.2175:0.1213:0.5367:0.1245	.	16	Q8WWG9	KCNE4_HUMAN	S	16	.	ENSP00000281830:A16S	A	+	1	0	KCNE4	223625838	0.052000	0.20516	0.437000	0.26809	0.967000	0.64934	0.875000	0.28079	0.471000	0.27319	0.655000	0.94253	GCC		PASS	0.617	KCNE4-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000330997.2	NM_080671		8	53	8	53	---	---	---	---
INPP5D	3635	broad.mit.edu	37	2	234102535	234102535	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr2:234102535G>T	ENST00000359570.5	+	25	2488	c.2488G>T	c.(2488-2490)Gag>Tag	p.E830*	INPP5D_ENST00000450745.1_Nonsense_Mutation_p.E594*|INPP5D_ENST00000455936.2_Nonsense_Mutation_p.E594*			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	842					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)	p.E842*(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCACCATGGGGAGTTGACAGG	0.617																																					NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2524-2526)GAG>TAG		SH2 containing inositol phosphatase isoform a							69.0	72.0	71.0					2																	234102535		2026	4182	6208	SO:0001587	stop_gained	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234102535G>T	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2488G>T	2.37:g.234102535G>T	ENSP00000352575:p.Glu830*					INPP5D_uc010zmp.1_Nonsense_Mutation_p.E841*	p.E842*	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	22	2677	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	842					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Nonsense_Mutation	SNP	ENST00000359570.5	37	c.2524G>T		.	.	.	.	.	.	.	.	.	.	G	37	6.523164	0.97633	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9116	0.92487	0.0:0.0:1.0:0.0	.	.	.	.	X	830;594;594;463;463;463	.	ENSP00000352575:E830X	E	+	1	0	INPP5D	233767274	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	8.526000	0.90588	2.452000	0.82932	0.650000	0.86243	GAG		PASS	0.617	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		5	42	5	42	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1269556	1269556	+	Silent	SNP	G	G	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr3:1269556G>A	ENST00000446702.2	+	4	864	c.237G>A	c.(235-237)ttG>ttA	p.L79L	CNTN6_ENST00000350110.2_Silent_p.L79L|CNTN6_ENST00000539053.1_Silent_p.L7L			Q9UQ52	CNTN6_HUMAN	contactin 6	79	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.L79L(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ACTACAGGTTGGATGGAGGCA	0.413																																						uc003boz.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(235-237)TTG>TTA		contactin 6 precursor							133.0	130.0	131.0					3																	1269556		2203	4300	6503	SO:0001819	synonymous_variant	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1269556G>A	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.237G>A	3.37:g.1269556G>A						CNTN6_uc010hbo.2_Silent_p.L74L|CNTN6_uc011asj.1_Silent_p.L7L|CNTN6_uc003bpa.2_Silent_p.L79L	p.L79L	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	4	504	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	79			Ig-like C2-type 1.		Q2KHM2	Silent	SNP	ENST00000446702.2	37	c.237G>A	CCDS2557.1																																																																																				PASS	0.413	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		7	70	7	70	---	---	---	---
CNTN4	152330	broad.mit.edu	37	3	2942484	2942484	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr3:2942484T>A	ENST00000397461.1	+	10	1440	c.1056T>A	c.(1054-1056)aaT>aaA	p.N352K	CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000358480.3_Missense_Mutation_p.N133K|CNTN4_ENST00000397459.2_Missense_Mutation_p.N24K|CNTN4_ENST00000448906.2_Missense_Mutation_p.N24K|CNTN4_ENST00000427331.1_Missense_Mutation_p.N352K|CNTN4_ENST00000418658.1_Missense_Mutation_p.N352K	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	352	Ig-like C2-type 4.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.N352K(1)|p.N24K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGCTAAAAAATGGCGAACCTC	0.393																																						uc003bpc.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(1054-1056)AAT>AAA		contactin 4 isoform a precursor							138.0	109.0	119.0					3																	2942484		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2942484T>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1056T>A	3.37:g.2942484T>A	ENSP00000380602:p.Asn352Lys					CNTN4_uc003bpb.1_Missense_Mutation_p.N24K|CNTN4_uc003bpd.1_Missense_Mutation_p.N352K|CNTN4_uc003bpe.2_Missense_Mutation_p.N24K|CNTN4_uc003bpf.2_Missense_Mutation_p.N24K	p.N352K	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	10	1277	+		Ovarian(110;0.156)	352			Ig-like C2-type 4.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.1056T>A	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.033815	0.75504	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906;ENST00000473845	T;T;T;T;T;T;T	0.75477	0.83;0.83;0.83;0.83;-0.94;-0.94;-0.94	5.41	3.04	0.35103	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.061265	0.64402	D	0.000005	T	0.81692	0.4876	M	0.64170	1.965	0.52501	D	0.999955	D;D;D	0.76494	0.999;0.999;0.991	D;D;P	0.72982	0.944;0.979;0.836	T	0.80674	-0.1277	10	0.87932	D	0	.	9.4703	0.38837	0.0:0.1452:0.0:0.8548	.	352;352;352	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	K	352;352;352;133;24;24;30	ENSP00000396010:N352K;ENSP00000380602:N352K;ENSP00000413642:N352K;ENSP00000351267:N133K;ENSP00000380600:N24K;ENSP00000392077:N24K;ENSP00000422120:N30K	ENSP00000351267:N133K	N	+	3	2	CNTN4	2917484	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.736000	0.26130	0.449000	0.26747	0.533000	0.62120	AAT		PASS	0.393	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			3	51	3	51	---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4725142	4725142	+	Silent	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr3:4725142G>T	ENST00000443694.2	+	24	3189	c.3189G>T	c.(3187-3189)acG>acT	p.T1063T	ITPR1_ENST00000302640.8_Silent_p.T1063T|ITPR1_ENST00000354582.6_Silent_p.T1078T|ITPR1_ENST00000423119.2_Silent_p.T1069T|ITPR1_ENST00000357086.4_Silent_p.T1069T|ITPR1_ENST00000456211.2_Silent_p.T1054T|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1078					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.T1063T(1)|p.T1069T(1)|p.T1054T(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TCCACTTGACGATGCATGACT	0.602																																						uc003bqa.2																			3	Substitution - coding silent(3)		lung(3)	lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.(3205-3207)ACG>ACT		inositol 1,4,5-triphosphate receptor, type 1							138.0	133.0	135.0					3																	4725142		2006	4171	6177	SO:0001819	synonymous_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4725142G>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.3189G>T	3.37:g.4725142G>T						ITPR1_uc010hca.1_Silent_p.T1054T|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_5'UTR	p.T1069T	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	27	3555	+			1078			Cytoplasmic (Potential).		E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	c.3207G>T	CCDS54551.1																																																																																				PASS	0.602	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		15	73	15	73	---	---	---	---
DPPA4	55211	broad.mit.edu	37	3	109049432	109049432	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr3:109049432C>T	ENST00000335658.6	-	5	672	c.618G>A	c.(616-618)tgG>tgA	p.W206*	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	206					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.W206*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						AAATTCTCGCCCAGGAGGCCA	0.562																																						uc003dxq.3																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(616-618)TGG>TGA		developmental pluripotency associated 4							55.0	59.0	58.0					3																	109049432		2203	4300	6503	SO:0001587	stop_gained	55211					nucleus	protein binding	g.chr3:109049432C>T	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.618G>A	3.37:g.109049432C>T	ENSP00000335306:p.Trp206*					DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Nonsense_Mutation_p.W206*	p.W206*	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN			5	673	-			206					A8K4M7|Q9H9N5|Q9NVI6	Nonsense_Mutation	SNP	ENST00000335658.6	37	c.618G>A	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577930	0.86645	.	.	ENSG00000121570	ENST00000335658	.	.	.	4.01	4.01	0.46588	.	0.135164	0.34906	N	0.003588	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.7618	11.9237	0.52806	0.0:1.0:0.0:0.0	.	.	.	.	X	206	.	.	W	-	3	0	DPPA4	110532122	0.967000	0.33354	0.973000	0.42090	0.641000	0.38312	2.700000	0.47085	2.523000	0.85059	0.467000	0.42956	TGG		PASS	0.562	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		4	66	4	66	---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141535837	141535837	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr3:141535837C>A	ENST00000264952.2	+	4	1744	c.1607C>A	c.(1606-1608)cCt>cAt	p.P536H		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	536					protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.P536H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CCCAACAGACCTACGGGTTGT	0.458																																						uc011bnd.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|ovary(1)|skin(1)	5						c.(1606-1608)CCT>CAT		G-protein-coupled receptor kinase 7 precursor							156.0	149.0	151.0					3																	141535837		2203	4300	6503	SO:0001583	missense	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141535837C>A		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1607C>A	3.37:g.141535837C>A	ENSP00000264952:p.Pro536His						p.P536H	NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN			4	1691	+			536						Missense_Mutation	SNP	ENST00000264952.2	37	c.1607C>A	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	C	7.410	0.634619	0.14322	.	.	ENSG00000114124	ENST00000264952	T	0.60672	0.17	5.14	1.89	0.25635	.	0.452267	0.21089	N	0.080359	T	0.34542	0.0901	N	0.25647	0.755	0.09310	N	1	P	0.42337	0.776	B	0.34824	0.19	T	0.26395	-1.0104	10	0.59425	D	0.04	-2.293	3.9462	0.09349	0.1681:0.4602:0.0:0.3717	.	536	Q8WTQ7	GRK7_HUMAN	H	536	ENSP00000264952:P536H	ENSP00000264952:P536H	P	+	2	0	GRK7	143018527	0.001000	0.12720	0.008000	0.14137	0.419000	0.31324	1.125000	0.31332	0.571000	0.29365	0.591000	0.81541	CCT		PASS	0.458	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		8	96	8	96	---	---	---	---
SI	6476	broad.mit.edu	37	3	164716462	164716462	+	Splice_Site	SNP	C	C	T	rs200481844		TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr3:164716462C>T	ENST00000264382.3	-	38	4469		c.e38-1			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.?(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CTGCAATGCACTAATATAGTA	0.358										HNSCC(35;0.089)																												uc003fei.2																			1	Unknown(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.e38-1		sucrase-isomaltase	Acarbose(DB00284)						137.0	126.0	130.0					3																	164716462		2203	4299	6502	SO:0001630	splice_region_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164716462C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4407-1G>A	3.37:g.164716462C>T		HNSCC(35;0.089)					p.D1469_splice	NM_001041	NP_001032	P14410	SUIS_HUMAN			38	4469	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)						A2RUC3|Q1JQ80|Q1RMC2	Splice_Site	SNP	ENST00000264382.3	37	c.4407_splice	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824585	0.50739	.	.	ENSG00000090402	ENST00000264382	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9326	0.89002	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SI	166199156	1.000000	0.71417	0.998000	0.56505	0.316000	0.28119	7.147000	0.77382	2.631000	0.89168	0.650000	0.86243	.		PASS	0.358	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	Intron	4	44	4	44	---	---	---	---
SERPINI1	5274	broad.mit.edu	37	3	167508224	167508224	+	Silent	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr3:167508224G>T	ENST00000295777.5	+	3	746	c.315G>T	c.(313-315)gtG>gtT	p.V105V	SERPINI1_ENST00000446050.2_Silent_p.V105V	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	105					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V105V(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GCCAATATGTGATGAAAATTG	0.318																																						uc003ffa.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(313-315)GTG>GTT		neuroserpin precursor							92.0	95.0	94.0					3																	167508224		2203	4300	6503	SO:0001819	synonymous_variant	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167508224G>T	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.315G>T	3.37:g.167508224G>T						SERPINI1_uc003ffb.3_Silent_p.V105V	p.V105V	NM_001122752	NP_001116224	Q99574	NEUS_HUMAN			3	513	+			105					A8K217|D3DNP1|Q6AHZ4	Silent	SNP	ENST00000295777.5	37	c.315G>T	CCDS3203.1																																																																																				PASS	0.318	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			4	68	4	68	---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173996989	173996989	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr3:173996989G>T	ENST00000457714.1	+	6	1627	c.1198G>T	c.(1198-1200)Gta>Tta	p.V400L	NLGN1_ENST00000545397.1_Missense_Mutation_p.V400L|NLGN1_ENST00000361589.4_Missense_Mutation_p.V400L|NLGN1_ENST00000401917.3_Missense_Mutation_p.V440L|NLGN1_ENST00000466350.1_3'UTR	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	417					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.V400L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGAAAATATAGTAGATAGCGA	0.353																																						uc003fio.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(1198-1200)GTA>TTA		neuroligin 1							126.0	134.0	131.0					3																	173996989		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173996989G>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1198G>T	3.37:g.173996989G>T	ENSP00000392500:p.Val400Leu					NLGN1_uc010hww.1_Missense_Mutation_p.V440L|NLGN1_uc003fip.1_Missense_Mutation_p.V400L	p.V400L	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	1621	+	Ovarian(172;0.0025)		417			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.1198G>T	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.722554	0.48728	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.39253	0.1071	N	0.12746	0.255	0.80722	D	1	B;B	0.18013	0.025;0.001	B;B	0.21360	0.034;0.001	T	0.13656	-1.0501	10	0.30078	T	0.28	.	19.6753	0.95930	0.0:0.0:1.0:0.0	.	440;400	D2X2H5;Q8N2Q7-2	.;.	L	400;400;400;440	ENSP00000392500:V400L;ENSP00000354541:V400L;ENSP00000441108:V400L;ENSP00000385750:V440L	ENSP00000354541:V400L	V	+	1	0	NLGN1	175479683	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.648000	0.89879	0.563000	0.77884	GTA		PASS	0.353	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		15	73	15	73	---	---	---	---
MCF2L2	23101	broad.mit.edu	37	3	182933804	182933804	+	Nonsense_Mutation	SNP	T	T	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr3:182933804T>A	ENST00000328913.3	-	22	2746	c.2449A>T	c.(2449-2451)Aag>Tag	p.K817*	MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.K817*	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	817	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K817*(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TCACAGGACTTGATCAAATCC	0.448																																						uc003fli.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(2449-2451)AAG>TAG		Rho family guanine-nucleotide exchange factor							242.0	214.0	223.0					3																	182933804		2203	4300	6503	SO:0001587	stop_gained	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182933804T>A	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2449A>T	3.37:g.182933804T>A	ENSP00000328118:p.Lys817*						p.K817*	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		22	2539	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		817			DH.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Nonsense_Mutation	SNP	ENST00000328913.3	37	c.2449A>T	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	T	38	6.758710	0.97817	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	.	.	.	4.29	0.241	0.15494	.	0.129387	0.50627	D	0.000104	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9834	0.41828	0.0:0.0:0.5325:0.4675	.	.	.	.	X	817	.	ENSP00000328118:K817X	K	-	1	0	MCF2L2	184416498	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	1.483000	0.35497	-0.031000	0.13781	-0.291000	0.09656	AAG		PASS	0.448	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		21	74	21	74	---	---	---	---
DVL3	1857	broad.mit.edu	37	3	183884310	183884310	+	Splice_Site	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr3:183884310G>T	ENST00000313143.3	+	9	1228	c.980G>T	c.(979-981)gGg>gTg	p.G327V	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Splice_Site_p.G327V	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	327					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)	p.G327V(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CACAAACCGGGGTATGGATGG	0.542																																						uc003fms.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(979-981)GGG>GTG		dishevelled 3							146.0	145.0	146.0					3																	183884310		2203	4300	6503	SO:0001630	splice_region_variant	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183884310G>T	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.980+1G>T	3.37:g.183884310G>T						DVL3_uc011bqw.1_Missense_Mutation_p.G327V|DVL3_uc003fmt.2_Intron|DVL3_uc003fmu.2_Missense_Mutation_p.G159V	p.G327V	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		9	1120	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		327					B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	c.980G>T	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661962	0.88251	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765	T;T	0.20069	2.1;2.1	5.6	5.6	0.85130	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.64091	0.2567	H	0.96604	3.85	0.80722	D	1	D;D;D	0.89917	0.98;1.0;1.0	D;D;D	0.91635	0.949;0.999;0.994	T	0.77133	-0.2700	10	0.87932	D	0	-0.6655	19.6224	0.95663	0.0:0.0:1.0:0.0	.	327;159;327	B4E3E5;Q9UG07;Q92997	.;.;DVL3_HUMAN	V	327	ENSP00000316054:G327V;ENSP00000405885:G327V	ENSP00000316054:G327V	G	+	2	0	DVL3	185367004	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.832000	0.99423	2.630000	0.89119	0.655000	0.94253	GGG		PASS	0.542	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423	Missense_Mutation	12	64	12	64	---	---	---	---
EPHB3	2049	broad.mit.edu	37	3	184298229	184298229	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr3:184298229A>T	ENST00000330394.2	+	12	2664	c.2212A>T	c.(2212-2214)Atg>Ttg	p.M738L	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	738	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)	p.M738L(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCTGGTGGGCATGTTGCGGGG	0.597																																						uc003foz.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11						c.(2212-2214)ATG>TTG		ephrin receptor EphB3 precursor							140.0	128.0	132.0					3																	184298229		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184298229A>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2212A>T	3.37:g.184298229A>T	ENSP00000332118:p.Met738Leu						p.M738L	NM_004443	NP_004434	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		12	2649	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		738			Cytoplasmic (Potential).|Protein kinase.		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.2212A>T	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.828157	0.50845	.	.	ENSG00000182580	ENST00000330394	T	0.60548	0.18	3.93	3.93	0.45458	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.041658	0.85682	D	0.000000	T	0.51702	0.1690	L	0.48986	1.54	0.80722	D	1	B	0.18166	0.026	B	0.20184	0.028	T	0.54918	-0.8221	10	0.56958	D	0.05	.	12.6757	0.56893	1.0:0.0:0.0:0.0	.	738	P54753	EPHB3_HUMAN	L	738	ENSP00000332118:M738L	ENSP00000332118:M738L	M	+	1	0	EPHB3	185780923	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.262000	0.95591	1.751000	0.51876	0.410000	0.27636	ATG		PASS	0.597	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		13	65	13	65	---	---	---	---
HTRA3	94031	broad.mit.edu	37	4	8307739	8307739	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr4:8307739G>A	ENST00000307358.2	+	9	1442	c.1238G>A	c.(1237-1239)gGg>gAg	p.G413E		NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	413	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.G413E(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						AAGGTCAACGGGCGTCCTCTA	0.642																																						uc003gla.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1237-1239)GGG>GAG		HtrA serine peptidase 3 precursor							113.0	95.0	101.0					4																	8307739		2203	4300	6503	SO:0001583	missense	94031				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr4:8307739G>A	AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.1238G>A	4.37:g.8307739G>A	ENSP00000303766:p.Gly413Glu						p.G413E	NM_053044	NP_444272	P83110	HTRA3_HUMAN			9	1442	+			413			PDZ.		Q7Z7A2	Missense_Mutation	SNP	ENST00000307358.2	37	c.1238G>A	CCDS3400.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560178	0.86335	.	.	ENSG00000170801	ENST00000307358	D	0.86297	-2.1	4.08	4.08	0.47627	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	D	0.93729	0.7996	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94206	0.7454	10	0.48119	T	0.1	-20.5038	16.6556	0.85227	0.0:0.0:1.0:0.0	.	413	P83110	HTRA3_HUMAN	E	413	ENSP00000303766:G413E	ENSP00000303766:G413E	G	+	2	0	HTRA3	8358639	1.000000	0.71417	0.998000	0.56505	0.899000	0.52679	7.823000	0.86660	2.010000	0.58986	0.298000	0.19748	GGG		PASS	0.642	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	NM_053044		4	60	4	60	---	---	---	---
LGI2	55203	broad.mit.edu	37	4	25005391	25005391	+	Silent	SNP	G	G	T	rs374590337		TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr4:25005391G>T	ENST00000382114.4	-	8	1505	c.1320C>A	c.(1318-1320)atC>atA	p.I440I		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	440						extracellular region (GO:0005576)		p.I440I(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GGGAGTCCCCGATGAAGCGGG	0.537																																						uc003grf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1318-1320)ATC>ATA		leucine-rich repeat LGI family, member 2							163.0	175.0	171.0					4																	25005391		2203	4300	6503	SO:0001819	synonymous_variant	55203					extracellular region		g.chr4:25005391G>T	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1320C>A	4.37:g.25005391G>T							p.I440I	NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN			8	1419	-		Breast(46;0.173)	440			EAR 5.		Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Silent	SNP	ENST00000382114.4	37	c.1320C>A	CCDS3431.1																																																																																				PASS	0.537	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			14	155	14	155	---	---	---	---
GRXCR1	389207	broad.mit.edu	37	4	42965125	42965125	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr4:42965125G>T	ENST00000399770.2	+	2	601	c.601G>T	c.(601-603)Gtg>Ttg	p.V201L		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	201	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)	p.V201L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CCTCCCTGTTGTGTTCATTGA	0.428																																						uc003gwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(601-603)GTG>TTG		glutaredoxin, cysteine rich 1							349.0	347.0	348.0					4																	42965125		1912	4124	6036	SO:0001583	missense	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42965125G>T		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.601G>T	4.37:g.42965125G>T	ENSP00000382670:p.Val201Leu						p.V201L	NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN			2	601	+			201			Glutaredoxin.			Missense_Mutation	SNP	ENST00000399770.2	37	c.601G>T	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284555	0.80803	.	.	ENSG00000215203	ENST00000399770	T	0.38722	1.12	5.98	5.98	0.97165	Glutaredoxin (2);Thioredoxin-like fold (2);	0.000000	0.64402	U	0.000009	T	0.48624	0.1510	N	0.20610	0.595	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.23190	-1.0195	10	0.09338	T	0.73	-13.8664	19.4402	0.94817	0.0:0.0:1.0:0.0	.	201	A8MXD5	GRCR1_HUMAN	L	201	ENSP00000382670:V201L	ENSP00000382670:V201L	V	+	1	0	GRXCR1	42659882	1.000000	0.71417	0.972000	0.41901	0.940000	0.58332	9.476000	0.97823	2.838000	0.97847	0.591000	0.81541	GTG		PASS	0.428	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		30	239	30	239	---	---	---	---
SMR3A	26952	broad.mit.edu	37	4	71232480	71232480	+	Silent	SNP	T	T	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr4:71232480T>C	ENST00000226460.4	+	3	270	c.174T>C	c.(172-174)taT>taC	p.Y58Y		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	58	Pro-rich.					extracellular region (GO:0005576)		p.Y58Y(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				CTCCACCCTATGGTCCAGGGA	0.567																																						uc003hfg.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(172-174)TAT>TAC		submaxillary gland androgen regulated protein 3							137.0	129.0	132.0					4																	71232480		2203	4300	6503	SO:0001819	synonymous_variant	26952					extracellular region		g.chr4:71232480T>C	D89501	CCDS34000.1	4q13.3	2009-04-17	2008-02-27	2005-02-07	ENSG00000109208	ENSG00000109208			19216	protein-coding gene	gene with protein product			"""proline rich 5 (salivary)"", ""submaxillary gland androgen regulated protein 3 homolog A (mouse)"""	PROL5		9354371, 17512016	Standard	NM_012390		Approved	PBI, PRL5	uc003hfg.1	Q99954	OTTHUMG00000160839	ENST00000226460.4:c.174T>C	4.37:g.71232480T>C						SMR3B_uc011cas.1_Intron	p.Y58Y	NM_012390	NP_036522	Q99954	SMR3A_HUMAN			3	255	+		all_hematologic(202;0.196)	58			Pro-rich.			Silent	SNP	ENST00000226460.4	37	c.174T>C	CCDS34000.1																																																																																				PASS	0.567	SMR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362574.1	NM_012390		4	82	4	82	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123283401	123283401	+	Silent	SNP	A	A	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr4:123283401A>G	ENST00000264501.4	+	86	15390	c.15017A>G	c.(15016-15018)tAa>tGa	p.*5006*	KIAA1109_ENST00000388738.3_Silent_p.*5006*			Q2LD37	K1109_HUMAN	KIAA1109	0					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.*5006*(1)|p.*5006fs?(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GAAGAACACTAAAAAAGTAAT	0.303																																						uc003ieh.2																			2	Deletion - Frameshift(1)|Substitution - coding silent(1)		large_intestine(1)|lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(15016-15018)TAA>TGA		fragile site-associated protein							64.0	63.0	63.0					4																	123283401		1827	4074	5901	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123283401A>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.15017A>G	4.37:g.123283401A>G						KIAA1109_uc003iem.2_Silent_p.*1362*	p.*5006*	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			84	15062	+			5006					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.15017A>G	CCDS43267.1																																																																																				PASS	0.303	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		4	44	4	44	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126372912	126372912	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr4:126372912T>A	ENST00000394329.3	+	9	10754	c.10741T>A	c.(10741-10743)Tat>Aat	p.Y3581N	FAT4_ENST00000335110.5_Missense_Mutation_p.Y1879N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3581	Cadherin 34. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y3581N(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGCAGACTTCTATCTGTCTGT	0.463																																						uc003ifj.3																			2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(10741-10743)TAT>AAT		FAT tumor suppressor homolog 4 precursor							97.0	97.0	97.0					4																	126372912		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372912T>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10741T>A	4.37:g.126372912T>A	ENSP00000377862:p.Tyr3581Asn					FAT4_uc011cgp.1_Missense_Mutation_p.Y1879N|FAT4_uc003ifi.1_Missense_Mutation_p.Y1059N	p.Y3581N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	10741	+			3581			Cadherin 34.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.10741T>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	15.30	2.792083	0.50102	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.47869	0.83;0.83	5.91	2.3	0.28687	Cadherin (4);Cadherin-like (1);	0.000000	0.31821	U	0.007003	T	0.46541	0.1398	N	0.20845	0.615	0.47905	D	0.999545	P;D;D	0.89917	0.744;1.0;1.0	B;D;D	0.85130	0.361;0.989;0.997	T	0.24012	-1.0172	10	0.18710	T	0.47	.	8.9537	0.35805	0.0:0.2069:0.0:0.7931	.	1879;3581;3581	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	N	3581;1879	ENSP00000377862:Y3581N;ENSP00000335169:Y1879N	ENSP00000335169:Y1879N	Y	+	1	0	FAT4	126592362	1.000000	0.71417	0.897000	0.35233	0.855000	0.48748	3.385000	0.52485	0.510000	0.28216	0.533000	0.62120	TAT		PASS	0.463	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		15	80	15	80	---	---	---	---
GAB1	2549	broad.mit.edu	37	4	144381636	144381636	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr4:144381636A>T	ENST00000262994.4	+	8	2101	c.1799A>T	c.(1798-1800)gAc>gTc	p.D600V	GAB1_ENST00000262995.4_Missense_Mutation_p.D630V|GAB1_ENST00000505913.1_Missense_Mutation_p.D497V	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	600					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.D630V(1)		breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					TCCAGTGAAGACCCAGTATGT	0.418																																						uc003ije.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|lung(1)|skin(1)	4						c.(1798-1800)GAC>GTC		GRB2-associated binding protein 1 isoform b							147.0	146.0	146.0					4																	144381636		2203	4300	6503	SO:0001583	missense	2549				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr4:144381636A>T	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.1799A>T	4.37:g.144381636A>T	ENSP00000262994:p.Asp600Val					GAB1_uc003ijd.2_Missense_Mutation_p.D630V|GAB1_uc011chq.1_Missense_Mutation_p.D497V	p.D600V	NM_002039	NP_002030	Q13480	GAB1_HUMAN			8	2158	+	all_hematologic(180;0.158)		600					A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	ENST00000262994.4	37	c.1799A>T	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	A	8.373	0.835665	0.16820	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000505913	T;T;T	0.13196	2.61;2.61;2.61	5.57	5.57	0.84162	.	0.335109	0.35772	N	0.002984	T	0.20047	0.0482	L	0.44542	1.39	0.80722	D	1	B;P	0.38677	0.449;0.642	B;P	0.47786	0.283;0.557	T	0.04017	-1.0984	10	0.15952	T	0.53	-13.7051	15.7316	0.77810	1.0:0.0:0.0:0.0	.	600;630	Q13480;Q13480-2	GAB1_HUMAN;.	V	630;600;497	ENSP00000262995:D630V;ENSP00000262994:D600V;ENSP00000424554:D497V	ENSP00000262994:D600V	D	+	2	0	GAB1	144601086	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	8.905000	0.92613	2.109000	0.64355	0.482000	0.46254	GAC		PASS	0.418	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039		15	95	15	95	---	---	---	---
ARFIP1	27236	broad.mit.edu	37	4	153784805	153784805	+	Silent	SNP	A	A	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr4:153784805A>G	ENST00000451320.2	+	3	305	c.141A>G	c.(139-141)caA>caG	p.Q47Q	ARFIP1_ENST00000356064.3_Silent_p.Q47Q|ARFIP1_ENST00000405727.2_Silent_p.Q47Q|ARFIP1_ENST00000353617.2_Silent_p.Q47Q|ARFIP1_ENST00000511289.1_3'UTR|ARFIP1_ENST00000429148.2_Intron			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	47					intracellular protein transport (GO:0006886)|regulation of protein secretion (GO:0050708)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)		p.Q47Q(2)	ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					CAGAAACCCAAATTACATCTC	0.368																																						uc003imz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(139-141)CAA>CAG		ADP-ribosylation factor interacting protein 1							100.0	95.0	96.0					4																	153784805		2203	4300	6503	SO:0001819	synonymous_variant	27236				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane		g.chr4:153784805A>G	U52521	CCDS3780.1, CCDS34080.1	4q31.3	2008-08-01	2008-08-01			ENSG00000164144			21496	protein-coding gene	gene with protein product	"""arfaptin 1"""	605928				9038142, 10413101	Standard	NM_001025595		Approved	HSU52521	uc003imz.3	P53367		ENST00000451320.2:c.141A>G	4.37:g.153784805A>G						ARFIP1_uc003inb.2_Silent_p.Q47Q|ARFIP1_uc003ina.2_Silent_p.Q47Q|ARFIP1_uc003inc.2_Silent_p.Q47Q|ARFIP1_uc011cij.1_Intron	p.Q47Q	NM_001025595	NP_001020766	P53367	ARFP1_HUMAN			3	417	+	all_hematologic(180;0.093)		47					Q2M2X4|Q3SYL4|Q9Y2X6	Silent	SNP	ENST00000451320.2	37	c.141A>G	CCDS34080.1																																																																																				PASS	0.368	ARFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365032.1	NM_014447		10	44	10	44	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187541112	187541112	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr4:187541112C>A	ENST00000441802.2	-	10	6837	c.6628G>T	c.(6628-6630)Gaa>Taa	p.E2210*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2210	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E2210*(1)|p.E2213*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTCAGGCCTTCCGGGCTGTTA	0.488										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(6628-6630)GAA>TAA		FAT tumor suppressor 1 precursor							148.0	148.0	148.0					4																	187541112		1996	4171	6167	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187541112C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6628G>T	4.37:g.187541112C>A	ENSP00000406229:p.Glu2210*	HNSCC(5;0.00058)					p.E2210*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	6816	-			2210			Extracellular (Potential).|Cadherin 20.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.6628G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	47	13.405032	0.99740	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.5902	0.91208	0.0:1.0:0.0:0.0	.	.	.	.	X	2210;2212	.	ENSP00000260147:E2212X	E	-	1	0	FAT1	187778106	1.000000	0.71417	0.981000	0.43875	0.439000	0.31926	7.651000	0.83577	2.619000	0.88677	0.655000	0.94253	GAA		PASS	0.488	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		14	88	14	88	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32091056	32091056	+	Missense_Mutation	SNP	A	A	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr5:32091056A>C	ENST00000438447.1	+	20	7890	c.7502A>C	c.(7501-7503)tAc>tCc	p.Y2501S	PDZD2_ENST00000282493.3_Missense_Mutation_p.Y2501S			O15018	PDZD2_HUMAN	PDZ domain containing 2	2501					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.Y2501S(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGCGAGGATTACTCAGCAGGG	0.632																																						uc003jhl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(7501-7503)TAC>TCC		PDZ domain containing 2							57.0	57.0	57.0					5																	32091056		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32091056A>C	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.7502A>C	5.37:g.32091056A>C	ENSP00000402033:p.Tyr2501Ser					PDZD2_uc003jhm.2_Missense_Mutation_p.Y2501S	p.Y2501S	NM_178140	NP_835260	O15018	PDZD2_HUMAN			20	7890	+			2501					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.7502A>C	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.468109	0.43839	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.08807	3.05;3.05	5.32	2.75	0.32379	.	0.279051	0.25978	N	0.027083	T	0.05731	0.0150	L	0.29908	0.895	0.28279	N	0.924087	P	0.38922	0.651	B	0.36030	0.216	T	0.28808	-1.0032	10	0.25751	T	0.34	.	8.3569	0.32335	0.3908:0.0:0.0:0.6092	.	2501	O15018	PDZD2_HUMAN	S	2501;2302;2501	ENSP00000402033:Y2501S;ENSP00000282493:Y2501S	ENSP00000282493:Y2501S	Y	+	2	0	PDZD2	32126813	0.140000	0.22579	0.575000	0.28536	0.764000	0.43329	1.044000	0.30329	0.846000	0.35142	0.459000	0.35465	TAC		PASS	0.632	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			8	48	8	48	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33648940	33648940	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr5:33648940C>A	ENST00000504830.1	-	9	1801	c.1466G>T	c.(1465-1467)tGc>tTc	p.C489F	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.C489F|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	489	Disintegrin.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|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 cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C489F(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TACTTCCTGGCAGAAGGTAGC	0.478										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(1465-1467)TGC>TTC		ADAM metallopeptidase with thrombospondin type 1							137.0	130.0	133.0					5																	33648940		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33648940C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1466G>T	5.37:g.33648940C>A	ENSP00000422554:p.Cys489Phe	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.C489F	p.C489F	NM_030955	NP_112217	P58397	ATS12_HUMAN			9	1629	-			489			Disintegrin.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.1466G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514416	0.85389	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.69040	-0.37;-0.37	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.87661	0.6233	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.90606	0.4548	10	0.87932	D	0	.	19.6116	0.95608	0.0:1.0:0.0:0.0	.	489;489	P58397-3;P58397	.;ATS12_HUMAN	F	489	ENSP00000422554:C489F;ENSP00000344847:C489F	ENSP00000344847:C489F	C	-	2	0	ADAMTS12	33684697	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.629000	0.83207	2.641000	0.89580	0.549000	0.68633	TGC		PASS	0.478	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		13	55	13	55	---	---	---	---
TTC23L	153657	broad.mit.edu	37	5	34864559	34864559	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr5:34864559T>C	ENST00000505624.1	+	6	657	c.554T>C	c.(553-555)tTc>tCc	p.F185S	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	185								p.F185S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						GAAGCCTATTTCAACCTGCAG	0.433																																						uc003jiu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(553-555)TTC>TCC		tetratricopeptide repeat domain 23-like							100.0	98.0	98.0					5																	34864559		1869	4113	5982	SO:0001583	missense	153657						binding	g.chr5:34864559T>C		CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.554T>C	5.37:g.34864559T>C	ENSP00000422188:p.Phe185Ser					TTC23L_uc003jiv.2_5'UTR|TTC23L_uc010iut.1_5'UTR	p.F185S	NM_144725	NP_653326	Q6PF05	TT23L_HUMAN			6	657	+			185			Potential.		Q6RGS4|Q8N7R3|Q96LJ2	Missense_Mutation	SNP	ENST00000505624.1	37	c.554T>C	CCDS54840.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.690660	0.29962	.	.	ENSG00000205838	ENST00000505624;ENST00000535797	T	0.73152	-0.72	5.6	1.69	0.24217	.	0.571293	0.18299	N	0.145485	T	0.55893	0.1949	L	0.45581	1.43	0.23747	N	0.996954	P	0.45827	0.867	B	0.44044	0.439	T	0.48958	-0.8988	10	0.07325	T	0.83	-15.588	4.1067	0.10040	0.1109:0.0758:0.1908:0.6225	.	185	Q6PF05	TT23L_HUMAN	S	185	ENSP00000422188:F185S	ENSP00000425242:F185S	F	+	2	0	TTC23L	34900316	0.859000	0.29813	0.997000	0.53966	0.977000	0.68977	0.909000	0.28558	0.958000	0.37956	0.460000	0.39030	TTC		PASS	0.433	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366819.1	NM_144725		5	57	5	57	---	---	---	---
LIFR	3977	broad.mit.edu	37	5	38510628	38510628	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr5:38510628C>G	ENST00000263409.4	-	7	1091	c.929G>C	c.(928-930)aGt>aCt	p.S310T	LIFR_ENST00000453190.2_Missense_Mutation_p.S310T|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	310					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.S310T(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATTTGTTCCACTACTTGCAGA	0.353			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	uc010ive.1				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)	4						c.(928-930)AGT>ACT		leukemia inhibitory factor receptor precursor							91.0	85.0	87.0					5																	38510628		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38510628C>G	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.929G>C	5.37:g.38510628C>G	ENSP00000263409:p.Ser310Thr					LIFR_uc003jli.2_Missense_Mutation_p.S310T	p.S310T	NM_001127671	NP_001121143	P42702	LIFR_HUMAN			7	1261	-	all_lung(31;0.00021)		310			Extracellular (Potential).		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.929G>C	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997957	0.54147	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.67865	-0.29;-0.29	5.65	5.65	0.86999	.	0.741939	0.14278	N	0.329702	T	0.72748	0.3499	L	0.43646	1.37	0.35722	D	0.817224	D	0.56746	0.977	D	0.64144	0.922	T	0.67405	-0.5679	10	0.11182	T	0.66	-25.1573	15.2172	0.73277	0.0:1.0:0.0:0.0	.	310	P42702	LIFR_HUMAN	T	310	ENSP00000263409:S310T;ENSP00000398368:S310T	ENSP00000263409:S310T	S	-	2	0	LIFR	38546385	1.000000	0.71417	0.990000	0.47175	0.908000	0.53690	4.376000	0.59556	2.661000	0.90470	0.655000	0.94253	AGT		PASS	0.353	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		3	60	3	60	---	---	---	---
MAN2A1	4124	broad.mit.edu	37	5	109155491	109155491	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr5:109155491G>C	ENST00000261483.4	+	14	3283	c.2231G>C	c.(2230-2232)gGa>gCa	p.G744A		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	744					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.G744A(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GAAGATAGCGGAATTTTCACC	0.333																																						uc003kou.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2230-2232)GGA>GCA		mannosidase, alpha, class 2A, member 1							94.0	111.0	105.0					5																	109155491		2202	4294	6496	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109155491G>C		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.2231G>C	5.37:g.109155491G>C	ENSP00000261483:p.Gly744Ala						p.G744A	NM_002372	NP_002363	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	14	3194	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	744			Lumenal (Potential).		Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.2231G>C	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	G	0.139	-1.104626	0.01828	.	.	ENSG00000112893	ENST00000261483	D	0.83075	-1.68	5.9	1.92	0.25849	Glycosyl hydrolases 38, C-terminal (1);Glycosyl hydrolase, family 13, all-beta (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.568179	0.20319	N	0.094663	T	0.73156	0.3551	L	0.58101	1.795	0.09310	N	0.999999	B	0.13594	0.008	B	0.19666	0.026	T	0.52823	-0.8524	10	0.09338	T	0.73	-1.3535	4.6341	0.12516	0.1939:0.1119:0.591:0.1033	.	744	Q16706	MA2A1_HUMAN	A	744	ENSP00000261483:G744A	ENSP00000261483:G744A	G	+	2	0	MAN2A1	109183390	0.009000	0.17119	0.696000	0.30242	0.007000	0.05969	1.461000	0.35255	0.426000	0.26116	-0.136000	0.14681	GGA		PASS	0.333	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			17	103	17	103	---	---	---	---
SLC12A2	6558	broad.mit.edu	37	5	127520118	127520118	+	Silent	SNP	A	A	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr5:127520118A>G	ENST00000262461.2	+	25	3549	c.3360A>G	c.(3358-3360)caA>caG	p.Q1120Q	SLC12A2_ENST00000507791.1_3'UTR|SLC12A2_ENST00000343225.4_Silent_p.Q1104Q	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1120					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)	p.Q1120Q(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	ATAAAGAGCAAGATATTGCAG	0.313																																						uc003kus.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(3358-3360)CAA>CAG		solute carrier family 12	Bumetanide(DB00887)|Potassium Chloride(DB00761)						107.0	108.0	108.0					5																	127520118		2203	4299	6502	SO:0001819	synonymous_variant	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127520118A>G		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.3360A>G	5.37:g.127520118A>G						SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Silent_p.Q1104Q	p.Q1120Q	NM_001046	NP_001037	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	25	3524	+		all_cancers(142;0.0972)|Prostate(80;0.151)	1120			Cytoplasmic (Potential).		Q8N713|Q8WWH7	Silent	SNP	ENST00000262461.2	37	c.3360A>G	CCDS4144.1																																																																																				PASS	0.313	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		7	54	7	54	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127636600	127636600	+	Silent	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr5:127636600G>T	ENST00000508053.1	-	54	7049	c.6075C>A	c.(6073-6075)ggC>ggA	p.G2025G	FBN2_ENST00000262464.4_Silent_p.G2025G			P35556	FBN2_HUMAN	fibrillin 2	2025	EGF-like 34; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G2025G(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GAGAGCAAGAGCCGGGAAGGG	0.413																																						uc003kuu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(6073-6075)GGC>GGA		fibrillin 2 precursor							75.0	77.0	76.0					5																	127636600		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127636600G>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6075C>A	5.37:g.127636600G>T							p.G2025G	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	48	6514	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2025			EGF-like 34; calcium-binding.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.6075C>A	CCDS34222.1																																																																																				PASS	0.413	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		4	48	4	48	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127648420	127648420	+	Silent	SNP	G	G	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr5:127648420G>A	ENST00000508053.1	-	43	5759	c.4785C>T	c.(4783-4785)acC>acT	p.T1595T	FBN2_ENST00000262464.4_Silent_p.T1595T			P35556	FBN2_HUMAN	fibrillin 2	1595	TB 6.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.T1595T(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCCCGATCTCGGTGTTGCAAG	0.562																																						uc003kuu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(4783-4785)ACC>ACT		fibrillin 2 precursor							230.0	232.0	231.0					5																	127648420		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127648420G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4785C>T	5.37:g.127648420G>A							p.T1595T	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	37	5224	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1595			TB 6.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.4785C>T	CCDS34222.1																																																																																				PASS	0.562	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		25	153	25	153	---	---	---	---
MATR3	9782	broad.mit.edu	37	5	138653312	138653312	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr5:138653312G>C	ENST00000394805.3	+	7	1545	c.1210G>C	c.(1210-1212)Gat>Cat	p.D404H	MATR3_ENST00000504203.1_Missense_Mutation_p.D66H|MATR3_ENST00000510056.1_Missense_Mutation_p.D404H|MATR3_ENST00000502499.1_Missense_Mutation_p.D66H|MATR3_ENST00000394800.2_Missense_Mutation_p.D404H|MATR3_ENST00000503811.1_Missense_Mutation_p.D116H|MATR3_ENST00000361059.2_Missense_Mutation_p.D404H|MATR3_ENST00000502929.1_Missense_Mutation_p.D404H|MATR3_ENST00000509990.1_Missense_Mutation_p.D404H	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	404	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)	p.D404H(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCACATCATGGATTTTCAACG	0.348																																						uc003ldu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1210-1212)GAT>CAT		matrin 3							67.0	69.0	69.0					5																	138653312		2201	4300	6501	SO:0001583	missense	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138653312G>C	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.1210G>C	5.37:g.138653312G>C	ENSP00000378284:p.Asp404His					MATR3_uc010jfb.2_Missense_Mutation_p.D404H|MATR3_uc003ldt.2_Missense_Mutation_p.D66H|MATR3_uc003ldw.2_Missense_Mutation_p.D404H|MATR3_uc003ldx.2_Missense_Mutation_p.D404H|MATR3_uc010jfc.2_Missense_Mutation_p.D404H|MATR3_uc003ldy.2_Missense_Mutation_p.D81H|MATR3_uc011czb.1_Missense_Mutation_p.D116H|MATR3_uc003ldz.2_Missense_Mutation_p.D404H|MATR3_uc003lea.2_Missense_Mutation_p.D404H|MATR3_uc003leb.2_Missense_Mutation_p.D66H|MATR3_uc003lec.2_Missense_Mutation_p.D81H	p.D404H	NM_199189	NP_954659	P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		10	1637	+			404			RRM 1.		B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	c.1210G>C	CCDS4210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.453610|4.453610	0.84209|0.84209	.|.	.|.	ENSG00000015479|ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000504203;ENST00000502929;ENST00000394800;ENST00000509644;ENST00000394805;ENST00000512876;ENST00000513678;ENST00000504045;ENST00000504311;ENST00000502499;ENST00000510056;ENST00000511249;ENST00000503811;ENST00000514528|ENST00000515833	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.78364|.	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.16;-1.17;-1.06;-1.06;-0.84;-1.06|.	5.2|5.2	5.2|5.2	0.72013|0.72013	RNA recognition motif domain (2);|.	0.288191|.	0.39407|.	N|.	0.001368|.	T|T	0.53594|0.53594	0.1806|0.1806	N|N	0.19112|0.19112	0.55|0.55	0.58432|0.58432	D|D	0.999993|0.999993	D;D;D;D;D;D|.	0.76494|.	0.999;0.999;0.999;0.998;0.996;0.999|.	D;D;D;D;D;D|.	0.81914|.	0.995;0.99;0.995;0.99;0.986;0.977|.	T|T	0.49133|0.49133	-0.8971|-0.8971	10|5	0.72032|.	D|.	0.01|.	-11.986|-11.986	18.8068|18.8068	0.92040|0.92040	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	116;404;116;404;404;404|.	B7ZAV5;D6REM6;B4DRS1;Q68D11;A8MXP9;P43243|.	.;.;.;.;.;MATR3_HUMAN|.	H|C	404;404;66;404;404;66;404;66;66;404;66;66;404;2;116;140|163	ENSP00000423533:D404H;ENSP00000354346:D404H;ENSP00000421218:D66H;ENSP00000422319:D404H;ENSP00000378279:D404H;ENSP00000378284:D404H;ENSP00000425150:D66H;ENSP00000423290:D404H;ENSP00000422700:D66H;ENSP00000426030:D66H;ENSP00000426743:D404H;ENSP00000422649:D2H;ENSP00000423587:D116H|.	ENSP00000354346:D404H|.	D|W	+|+	1|3	0|0	MATR3|MATR3	138681211|138681211	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.139000|7.139000	0.77314|0.77314	2.442000|2.442000	0.82660|0.82660	0.454000|0.454000	0.30748|0.30748	GAT|TGG		PASS	0.348	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		3	42	3	42	---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140208977	140208977	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr5:140208977C>A	ENST00000529310.1	+	1	1415	c.1301C>A	c.(1300-1302)tCg>tAg	p.S434*	PCDHA6_ENST00000527624.1_Nonsense_Mutation_p.S434*|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	434	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S434*(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTCGCCTTCGCTGTGGGCC	0.612																																						uc003lho.2																			2	Substitution - Nonsense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(1300-1302)TCG>TAG		protocadherin alpha 6 isoform 1 precursor							62.0	73.0	70.0					5																	140208977		2201	4296	6497	SO:0001587	stop_gained	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140208977C>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1301C>A	5.37:g.140208977C>A	ENSP00000433378:p.Ser434*					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Nonsense_Mutation_p.S434*|PCDHA6_uc011dab.1_Nonsense_Mutation_p.S434*	p.S434*	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1328	+			434			Cadherin 4.|Extracellular (Potential).		O75283|Q9NRT8	Nonsense_Mutation	SNP	ENST00000529310.1	37	c.1301C>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.743434	0.49151	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	.	.	.	3.7	2.83	0.33086	.	0.823416	0.09813	U	0.752555	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8007	0.29172	0.0:0.615:0.2956:0.0894	.	.	.	.	X	434	.	ENSP00000434113:S434X	S	+	2	0	PCDHA6	140189161	0.001000	0.12720	0.064000	0.19789	0.176000	0.22953	1.499000	0.35671	0.887000	0.36136	0.313000	0.20887	TCG		PASS	0.612	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		17	66	17	66	---	---	---	---
GRIA1	2890	broad.mit.edu	37	5	153149968	153149968	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr5:153149968G>C	ENST00000285900.5	+	13	2606	c.2263G>C	c.(2263-2265)Gcc>Ccc	p.A755P	GRIA1_ENST00000521843.2_Missense_Mutation_p.A686P|GRIA1_ENST00000518783.1_Missense_Mutation_p.A765P|GRIA1_ENST00000340592.5_Missense_Mutation_p.A755P|GRIA1_ENST00000448073.4_Missense_Mutation_p.A765P|GRIA1_ENST00000518142.1_Missense_Mutation_p.A675P	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	755					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.A755P(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CAAGGGGTCTGCCCTGAGGTA	0.512																																						uc003lva.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(2263-2265)GCC>CCC		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						71.0	67.0	68.0					5																	153149968		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153149968G>C		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2263G>C	5.37:g.153149968G>C	ENSP00000285900:p.Ala755Pro					GRIA1_uc003luy.3_Missense_Mutation_p.A755P|GRIA1_uc003luz.3_Missense_Mutation_p.A660P|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.A675P|GRIA1_uc011dcx.1_Missense_Mutation_p.A686P|GRIA1_uc011dcy.1_Missense_Mutation_p.A765P|GRIA1_uc011dcz.1_Missense_Mutation_p.A765P	p.A755P	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		13	2628	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	755			Extracellular (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2263G>C	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	2.831	-0.242541	0.05906	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.26	5.26	0.73747	Ionotropic glutamate receptor (2);	0.103673	0.64402	D	0.000004	T	0.06416	0.0165	N	0.00106	-2.12	0.46376	D	0.999012	B;B;B;B;B	0.06786	0.001;0.001;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.004;0.004;0.002;0.002;0.004	T	0.39800	-0.9596	10	0.02654	T	1	.	13.64	0.62243	0.0:0.1551:0.8449:0.0	.	765;765;675;755;755	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	P	755;755;675;709;755;688;686;765;765	ENSP00000285900:A755P;ENSP00000427920:A675P;ENSP00000339343:A755P;ENSP00000427864:A688P;ENSP00000442108:A686P;ENSP00000428994:A765P;ENSP00000415569:A765P	ENSP00000285900:A755P	A	+	1	0	GRIA1	153130161	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	2.960000	0.49161	2.463000	0.83235	0.650000	0.86243	GCC		PASS	0.512	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			3	21	3	21	---	---	---	---
GABRP	2568	broad.mit.edu	37	5	170222260	170222260	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr5:170222260C>A	ENST00000518525.1	+	6	753	c.289C>A	c.(289-291)Ctg>Atg	p.L97M	GABRP_ENST00000519385.1_Missense_Mutation_p.L97M|GABRP_ENST00000265294.4_Missense_Mutation_p.L97M|GABRP_ENST00000519598.1_Missense_Mutation_p.L97M			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	97					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.L97M(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGACCAGCGGCTGGTGTTTGA	0.557																																						uc003mau.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(289-291)CTG>ATG		gamma-aminobutyric acid (GABA) A receptor, pi							134.0	140.0	138.0					5																	170222260		2203	4300	6503	SO:0001583	missense	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170222260C>A	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.289C>A	5.37:g.170222260C>A	ENSP00000430100:p.Leu97Met					GABRP_uc011dev.1_Missense_Mutation_p.L97M	p.L97M	NM_014211	NP_055026	O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		5	487	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	97			Extracellular (Potential).		A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	c.289C>A	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650785	0.67472	.	.	ENSG00000094755	ENST00000521481;ENST00000522868;ENST00000518525;ENST00000539175;ENST00000265294;ENST00000519385;ENST00000519598	D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.59	4.72	0.59763	Neurotransmitter-gated ion-channel ligand-binding (3);	0.136669	0.47852	D	0.000217	D	0.94532	0.8239	M	0.87758	2.905	0.53688	D	0.999971	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	D	0.94975	0.8120	10	0.87932	D	0	.	11.8555	0.52435	0.0:0.8545:0.0:0.1455	.	97;97	E7EWG0;O00591	.;GBRP_HUMAN	M	97;97;97;18;97;97;97	ENSP00000428804:L97M;ENSP00000430188:L97M;ENSP00000430100:L97M;ENSP00000265294:L97M;ENSP00000430727:L97M;ENSP00000430772:L97M	ENSP00000265294:L97M	L	+	1	2	GABRP	170154838	0.970000	0.33590	1.000000	0.80357	0.999000	0.98932	1.976000	0.40579	1.486000	0.48398	0.643000	0.83706	CTG		PASS	0.557	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		5	104	5	104	---	---	---	---
ATP6V0E1	8992	broad.mit.edu	37	5	172410956	172410956	+	Silent	SNP	T	T	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr5:172410956T>G	ENST00000519374.1	+	1	197	c.93T>G	c.(91-93)ggT>ggG	p.G31G	ATP6V0E1_ENST00000265093.4_Silent_p.G31G|ATP6V0E1_ENST00000517669.1_Silent_p.G31G|ATP6V0E1_ENST00000519911.1_Silent_p.G31G	NM_003945.3	NP_003936.1	O15342	VA0E1_HUMAN	ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1	31					ATP hydrolysis coupled proton transport (GO:0015991)|cell growth (GO:0016049)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|response to amino acid (GO:0043200)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	ATPase activity, coupled to transmembrane movement of ions (GO:0042625)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)	p.G31G(1)		lung(2)	2	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCCCTAAGGGTCCTAACCGGG	0.647																																						uc003mcd.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(91-93)GGT>GGG		ATPase, H+ transporting, lysosomal 9kDa, V0							160.0	148.0	152.0					5																	172410956		2203	4300	6503	SO:0001819	synonymous_variant	8992				ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|membrane fraction|proton-transporting V-type ATPase, V0 domain|vacuole	proton-transporting ATPase activity, rotational mechanism	g.chr5:172410956T>G	Y15286	CCDS4383.1	5q35.2	2010-04-21	2006-10-12	2006-10-12	ENSG00000113732	ENSG00000113732		"""ATPases / V-type"""	863	protein-coding gene	gene with protein product		603931	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 9kD"", ""ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e"""	ATP6H, ATP6V0E		9556572, 14970230	Standard	NM_003945		Approved	M9.2	uc003mcd.1	O15342	OTTHUMG00000130518	ENST00000519374.1:c.93T>G	5.37:g.172410956T>G							p.G31G	NM_003945	NP_003936	O15342	VA0E1_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		1	194	+	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	31					B2R557|D3DQM1|Q6IBE8	Silent	SNP	ENST00000519374.1	37	c.93T>G	CCDS4383.1																																																																																				PASS	0.647	ATP6V0E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252935.2	NM_003945		12	98	12	98	---	---	---	---
TRIM10	10107	broad.mit.edu	37	6	30128523	30128523	+	Missense_Mutation	SNP	G	G	T	rs191901085		TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr6:30128523G>T	ENST00000449742.2	-	1	188	c.113C>A	c.(112-114)gCc>gAc	p.A38D	TRIM15_ENST00000376694.4_5'Flank|TRIM15_ENST00000376688.1_5'Flank|TRIM10_ENST00000376704.3_Missense_Mutation_p.A38D	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	38					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.A38D(1)		ovary(1)	1						GGTAAGGCAGGCCCGGCAGAA	0.622																																						uc003npo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(112-114)GCC>GAC		tripartite motif-containing 10 isoform 1							94.0	100.0	98.0					6																	30128523		2203	4300	6503	SO:0001583	missense	10107					cytoplasm	zinc ion binding	g.chr6:30128523G>T	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.113C>A	6.37:g.30128523G>T	ENSP00000397073:p.Ala38Asp					TRIM10_uc003npn.2_Missense_Mutation_p.A38D|TRIM15_uc010jrx.2_5'Flank	p.A38D	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN			1	189	-			38			RING-type.		A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	c.113C>A	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	G	4.545	0.101258	0.08731	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.07908	3.15;3.15	4.92	2.08	0.27032	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	1.204280	0.05958	N	0.640018	T	0.02012	0.0063	N	0.17474	0.49	0.09310	N	1	B;B	0.21381	0.055;0.045	B;B	0.24701	0.055;0.017	T	0.48514	-0.9029	10	0.49607	T	0.09	.	8.2891	0.31948	0.1752:0.5128:0.312:0.0	.	38;38	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	D	38	ENSP00000397073:A38D;ENSP00000365894:A38D	ENSP00000365894:A38D	A	-	2	0	TRIM10	30236502	0.000000	0.05858	0.069000	0.20011	0.204000	0.24138	-1.194000	0.03046	0.195000	0.20347	-0.418000	0.06021	GCC		PASS	0.622	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			9	73	9	73	---	---	---	---
AIM1	202	broad.mit.edu	37	6	106999847	106999847	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr6:106999847A>G	ENST00000369066.3	+	12	4696	c.4209A>G	c.(4207-4209)atA>atG	p.I1403M	AIM1_ENST00000487681.1_3'UTR|AIM1_ENST00000535438.1_Missense_Mutation_p.I222M	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.I1403M(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTCAACCTATATGTTTGGTAA	0.338																																						uc003prh.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9						c.(4207-4209)ATA>ATG		absent in melanoma 1							77.0	85.0	83.0					6																	106999847		2203	4297	6500	SO:0001583	missense	202						sugar binding	g.chr6:106999847A>G	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4209A>G	6.37:g.106999847A>G	ENSP00000358062:p.Ile1403Met					AIM1_uc003pri.2_Missense_Mutation_p.I207M	p.I1403M	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	12	4696	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1403			Beta/gamma crystallin 'Greek key' 8.		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.4209A>G	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.938814	0.52972	.	.	ENSG00000112297	ENST00000369066;ENST00000457437;ENST00000535438	T;T;T	0.78816	-1.21;-1.21;-1.21	5.9	4.67	0.58626	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.042808	0.85682	D	0.000000	D	0.86789	0.6017	M	0.92507	3.315	0.41919	D	0.990504	D;D	0.76494	0.999;0.999	D;D	0.81914	0.99;0.995	D	0.88356	0.2984	10	0.56958	D	0.05	.	10.4026	0.44239	0.5592:0.0:0.0:0.4408	.	222;1403	B4DU04;Q9Y4K1	.;AIM1_HUMAN	M	1403;222;222	ENSP00000358062:I1403M;ENSP00000391419:I222M;ENSP00000439183:I222M	ENSP00000358062:I1403M	I	+	3	3	AIM1	107106540	0.504000	0.26123	1.000000	0.80357	0.831000	0.47069	0.208000	0.17415	0.926000	0.37118	0.460000	0.39030	ATA		PASS	0.338	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			14	87	14	87	---	---	---	---
FAM184A	79632	broad.mit.edu	37	6	119324136	119324136	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr6:119324136C>A	ENST00000338891.7	-	9	2459	c.2016G>T	c.(2014-2016)ttG>ttT	p.L672F	FAM184A_ENST00000368475.4_Missense_Mutation_p.L552F|FAM184A_ENST00000521531.1_Missense_Mutation_p.L672F|FAM184A_ENST00000352896.5_Missense_Mutation_p.L552F|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	672						extracellular space (GO:0005615)		p.L672F(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CTTTCAACTGCAAAAGTTGAG	0.348																																						uc003pyj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						c.(2014-2016)TTG>TTT		hypothetical protein LOC79632 isoform 1							144.0	139.0	140.0					6																	119324136		1860	4102	5962	SO:0001583	missense	79632							g.chr6:119324136C>A	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2016G>T	6.37:g.119324136C>A	ENSP00000342604:p.Leu672Phe					FAM184A_uc003pyk.3_Missense_Mutation_p.L552F|FAM184A_uc003pyl.3_Missense_Mutation_p.L552F	p.L672F	NM_024581	NP_078857	Q8NB25	F184A_HUMAN			9	2364	-			672			Potential.		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.2016G>T	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	12.64	2.000099	0.35320	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.97	2.1	0.27182	.	0.311011	0.29684	N	0.011474	T	0.10766	0.0263	L	0.44542	1.39	0.80722	D	1	B;B;B	0.12630	0.005;0.003;0.006	B;B;B	0.18871	0.017;0.005;0.023	T	0.10064	-1.0646	10	0.25106	T	0.35	-1.713	4.4957	0.11835	0.3469:0.4096:0.0:0.2435	.	672;552;672	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	F	672;552;552;672	ENSP00000342604:L672F;ENSP00000326608:L552F;ENSP00000357460:L552F;ENSP00000430442:L672F	ENSP00000342604:L672F	L	-	3	2	FAM184A	119365835	0.816000	0.29132	0.998000	0.56505	0.992000	0.81027	-0.296000	0.08287	0.090000	0.17273	0.650000	0.86243	TTG		PASS	0.348	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		13	82	13	82	---	---	---	---
MAP3K5	4217	broad.mit.edu	37	6	136913588	136913588	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr6:136913588T>C	ENST00000359015.4	-	22	3403	c.3043A>G	c.(3043-3045)Aca>Gca	p.T1015A	MAP3K5_ENST00000355845.4_Missense_Mutation_p.T262A	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1015					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.T1015A(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AAAAAGAGTGTCCGAATTCCC	0.443																																						uc003qhc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(3043-3045)ACA>GCA		mitogen-activated protein kinase kinase kinase							160.0	160.0	160.0					6																	136913588		2203	4300	6503	SO:0001583	missense	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136913588T>C	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.3043A>G	6.37:g.136913588T>C	ENSP00000351908:p.Thr1015Ala					MAP3K5_uc011edj.1_Missense_Mutation_p.T262A|MAP3K5_uc011edk.1_Missense_Mutation_p.T861A	p.T1015A	NM_005923	NP_005914	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	22	3404	-	Colorectal(23;0.24)		1015					A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.3043A>G	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	T	13.32	2.203247	0.38905	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.71103	-0.4;-0.54	5.78	5.78	0.91487	.	0.290858	0.39020	N	0.001491	T	0.46852	0.1414	L	0.39020	1.185	0.36738	D	0.882097	B;B	0.20780	0.007;0.048	B;B	0.24006	0.005;0.05	T	0.51458	-0.8703	10	0.42905	T	0.14	.	10.9961	0.47578	0.1726:0.0:0.0:0.8273	.	1096;1015	Q59GL6;Q99683	.;M3K5_HUMAN	A	1015;262;1095	ENSP00000351908:T1015A;ENSP00000348104:T262A	ENSP00000348104:T262A	T	-	1	0	MAP3K5	136955281	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	3.122000	0.50446	2.203000	0.70933	0.533000	0.62120	ACA		PASS	0.443	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			14	132	14	132	---	---	---	---
GINM1	116254	broad.mit.edu	37	6	149893447	149893447	+	Silent	SNP	A	A	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr6:149893447A>C	ENST00000367419.5	+	2	268	c.147A>C	c.(145-147)acA>acC	p.T49T		NM_138785.3	NP_620140.1	Q9NU53	GINM1_HUMAN	glycoprotein integral membrane 1	49						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T49T(1)									ATGTAACTACACTGAAAGATG	0.353																																						uc003qmq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(145-147)ACA>ACC		hypothetical protein LOC116254 precursor							141.0	138.0	139.0					6																	149893447		2203	4300	6503	SO:0001819	synonymous_variant	116254					integral to membrane		g.chr6:149893447A>C	BC014320	CCDS5216.1	6q24.3	2012-07-20	2012-07-20	2012-07-20	ENSG00000055211	ENSG00000055211			21074	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 72"""	C6orf72			Standard	NM_138785		Approved	dJ12G14.2	uc003qmq.1	Q9NU53	OTTHUMG00000015789	ENST00000367419.5:c.147A>C	6.37:g.149893447A>C						C6orf72_uc010kie.1_Intron	p.T49T	NM_138785	NP_620140	Q9NU53	CF072_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171)	2	174	+		Ovarian(120;0.0907)	49			Extracellular (Potential).		B2RDY7|E1P5A2	Silent	SNP	ENST00000367419.5	37	c.147A>C	CCDS5216.1																																																																																				PASS	0.353	GINM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042644.1	NM_138785		3	40	3	40	---	---	---	---
THBS2	7058	broad.mit.edu	37	6	169641988	169641988	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr6:169641988A>G	ENST00000366787.3	-	6	1009	c.760T>C	c.(760-762)Tac>Cac	p.Y254H	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	254					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.Y254H(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGGCCCACGTACTCGGTGGTG	0.637																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(760-762)TAC>CAC		thrombospondin 2 precursor							54.0	50.0	52.0					6																	169641988		2203	4298	6501	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169641988A>G		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.760T>C	6.37:g.169641988A>G	ENSP00000355751:p.Tyr254His						p.Y254H	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	6	1008	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	254					A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.760T>C	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	A	8.476	0.858731	0.17178	.	.	ENSG00000186340	ENST00000366787	T	0.80824	-1.42	4.75	-3.61	0.04556	.	0.933288	0.08755	N	0.898504	T	0.48003	0.1476	L	0.35644	1.08	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.44221	-0.9342	10	0.51188	T	0.08	-25.305	5.3723	0.16146	0.5318:0.0:0.3437:0.1245	.	254	P35442	TSP2_HUMAN	H	254	ENSP00000355751:Y254H	ENSP00000355751:Y254H	Y	-	1	0	THBS2	169383913	0.162000	0.22906	0.000000	0.03702	0.282000	0.26991	0.860000	0.27871	-0.514000	0.06488	0.402000	0.26972	TAC		PASS	0.637	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		6	50	6	50	---	---	---	---
SNX13	23161	broad.mit.edu	37	7	17861181	17861181	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr7:17861181T>C	ENST00000409389.1	-	18	2001	c.1829A>G	c.(1828-1830)tAt>tGt	p.Y610C	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Missense_Mutation_p.Y599C			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	610	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.Y599C(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					ATAACGACGATAGGTTTTCCA	0.398																																						uc003stw.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|kidney(1)	3						c.(1828-1830)TAT>TGT		SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;							168.0	166.0	166.0					7																	17861181		1931	4123	6054	SO:0001583	missense	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17861181T>C	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1829A>G	7.37:g.17861181T>C	ENSP00000386705:p.Tyr610Cys					SNX13_uc003stv.2_Missense_Mutation_p.Y599C|SNX13_uc010kuc.2_Missense_Mutation_p.Y396C|SNX13_uc010kub.2_Missense_Mutation_p.Y5C	p.Y610C			Q9Y5W8	SNX13_HUMAN			18	2042	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		610			PX.		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	37	c.1829A>G		.	.	.	.	.	.	.	.	.	.	T	22.2	4.254235	0.80135	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.43688	0.94;0.94	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.63721	0.2535	M	0.72576	2.205	0.80722	D	1	D;P;D	0.89917	1.0;0.657;1.0	D;P;D	0.75484	0.986;0.636;0.976	T	0.63139	-0.6704	10	0.39692	T	0.17	-3.155	16.056	0.80805	0.0:0.0:0.0:1.0	.	396;610;599	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	C	610;599;647	ENSP00000386705:Y610C;ENSP00000398789:Y599C	ENSP00000242044:Y647C	Y	-	2	0	SNX13	17827706	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	7.698000	0.84413	2.178000	0.69098	0.533000	0.62120	TAT		PASS	0.398	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		7	79	7	79	---	---	---	---
CDCA7L	55536	broad.mit.edu	37	7	21948030	21948030	+	Silent	SNP	G	G	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr7:21948030G>A	ENST00000406877.3	-	4	678	c.399C>T	c.(397-399)agC>agT	p.S133S	CDCA7L_ENST00000356195.5_Silent_p.S99S|CDCA7L_ENST00000373934.4_Silent_p.S87S|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	133					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.S133S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TTCTAGACCTGCTTCTTCTAG	0.453																																						uc010kuk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(397-399)AGC>AGT		cell division cycle associated 7-like isoform 1							124.0	109.0	114.0					7																	21948030		2203	4300	6503	SO:0001819	synonymous_variant	55536				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr7:21948030G>A		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.399C>T	7.37:g.21948030G>A						CDCA7L_uc003sve.3_Silent_p.S99S|CDCA7L_uc010kul.2_Silent_p.S87S|CDCA7L_uc003svf.3_Silent_p.S132S|CDCA7L_uc011jyk.1_Silent_p.S133S	p.S133S	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN			4	519	-			133					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Silent	SNP	ENST00000406877.3	37	c.399C>T	CCDS5374.1																																																																																				PASS	0.453	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		4	44	4	44	---	---	---	---
VPS41	27072	broad.mit.edu	37	7	38937702	38937702	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr7:38937702C>G	ENST00000310301.4	-	2	103	c.49G>C	c.(49-51)Gat>Cat	p.D17H	VPS41_ENST00000395969.2_Missense_Mutation_p.D17H	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	17					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)	p.D17N(1)|p.D17H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TCAGACTCATCTGTAGATTCT	0.428																																						uc003tgy.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(49-51)GAT>CAT		vacuolar protein sorting 41 isoform 1							95.0	87.0	90.0					7																	38937702		2203	4300	6503	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38937702C>G	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.49G>C	7.37:g.38937702C>G	ENSP00000309457:p.Asp17His					VPS41_uc003tgz.2_Missense_Mutation_p.D17H|VPS41_uc010kxn.2_Missense_Mutation_p.D17H	p.D17H	NM_014396	NP_055211	P49754	VPS41_HUMAN			2	75	-			17					E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.49G>C	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006851	0.74932	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.47177	0.85;0.85	5.01	5.01	0.66863	.	0.104701	0.64402	D	0.000006	T	0.57946	0.2088	M	0.73962	2.25	0.45648	D	0.998571	P;P;P	0.48694	0.914;0.856;0.856	P;P;P	0.48488	0.579;0.579;0.579	T	0.60821	-0.7187	10	0.41790	T	0.15	-14.1591	16.8904	0.86085	0.0:1.0:0.0:0.0	rs35209312	17;17;17	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	H	17	ENSP00000309457:D17H;ENSP00000379297:D17H	ENSP00000265745:D17H	D	-	1	0	VPS41	38904227	0.998000	0.40836	1.000000	0.80357	0.977000	0.68977	4.692000	0.61746	2.495000	0.84180	0.655000	0.94253	GAT		PASS	0.428	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			3	39	3	39	---	---	---	---
HECW1	23072	broad.mit.edu	37	7	43506139	43506139	+	Missense_Mutation	SNP	A	A	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr7:43506139A>C	ENST00000395891.2	+	15	3490	c.2885A>C	c.(2884-2886)gAg>gCg	p.E962A	HECW1_ENST00000453890.1_Missense_Mutation_p.E928A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	962					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E962A(1)|p.E941A(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACCAACCCCGAGTTCTTCACT	0.493																																						uc003tid.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(2884-2886)GAG>GCG		NEDD4-like ubiquitin-protein ligase 1							105.0	97.0	99.0					7																	43506139		1919	4140	6059	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43506139A>C	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2885A>C	7.37:g.43506139A>C	ENSP00000379228:p.Glu962Ala					HECW1_uc011kbi.1_Missense_Mutation_p.E928A	p.E962A	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			15	3490	+			962					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.2885A>C	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	A	26.5	4.742373	0.89573	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	D;D	0.85702	-2.02;-2.02	5.8	5.8	0.92144	.	0.044600	0.85682	D	0.000000	D	0.90249	0.6951	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.78314	0.991;0.96	D	0.91076	0.4896	10	0.72032	D	0.01	.	16.1596	0.81693	1.0:0.0:0.0:0.0	.	928;962	B4DH42;Q76N89	.;HECW1_HUMAN	A	962;928;962	ENSP00000379228:E962A;ENSP00000407774:E928A	ENSP00000265522:E962A	E	+	2	0	HECW1	43472664	1.000000	0.71417	0.669000	0.29828	0.948000	0.59901	8.730000	0.91510	2.216000	0.71823	0.533000	0.62120	GAG		PASS	0.493	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		7	72	7	72	---	---	---	---
NPC1L1	29881	broad.mit.edu	37	7	44579469	44579469	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr7:44579469C>A	ENST00000289547.4	-	2	582	c.527G>T	c.(526-528)cGc>cTc	p.R176L	NPC1L1_ENST00000546276.1_Missense_Mutation_p.R176L|NPC1L1_ENST00000423141.1_Missense_Mutation_p.R176L|NPC1L1_ENST00000381160.3_Missense_Mutation_p.R176L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	176					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.R176L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGCAGGGACGCGCACACGGCT	0.622																																						uc003tlb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(526-528)CGC>CTC		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)						56.0	50.0	52.0					7																	44579469		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44579469C>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.527G>T	7.37:g.44579469C>A	ENSP00000289547:p.Arg176Leu					NPC1L1_uc003tlc.2_Missense_Mutation_p.R176L|NPC1L1_uc011kbw.1_Missense_Mutation_p.R176L|NPC1L1_uc003tld.2_Missense_Mutation_p.R176L	p.R176L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			2	583	-			176			Extracellular (Potential).		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.527G>T	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	N	5.102	0.204400	0.09704	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7	5.04	2.83	0.33086	.	0.125321	0.51477	D	0.000090	D	0.93766	0.8007	M	0.78916	2.43	0.09310	N	1	P;D;B;B	0.76494	0.712;0.999;0.41;0.26	B;P;B;B	0.62491	0.195;0.903;0.13;0.101	D	0.87766	0.2602	10	0.49607	T	0.09	-29.8153	12.9371	0.58320	0.0:0.8198:0.0:0.1802	.	176;176;176;176	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	L	176	ENSP00000289547:R176L;ENSP00000370552:R176L;ENSP00000438033:R176L;ENSP00000404670:R176L	ENSP00000289547:R176L	R	-	2	0	NPC1L1	44545994	0.473000	0.25878	0.877000	0.34402	0.022000	0.10575	1.323000	0.33701	0.537000	0.28751	-1.644000	0.00765	CGC		PASS	0.622	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		4	49	4	49	---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47988034	47988034	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr7:47988034C>A	ENST00000289672.2	-	1	54	c.4G>T	c.(4-6)Gcc>Tcc	p.A2S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.A2S(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCCTCCTCGGCCATGTCCTGT	0.453																																						uc003tny.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(4-6)GCC>TCC		polycystin-1L1							96.0	90.0	92.0					7																	47988034		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47988034C>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4G>T	7.37:g.47988034C>A	ENSP00000289672:p.Ala2Ser						p.A2S	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			1	4	-			2			Extracellular (Potential).		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.4G>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	7.646	0.681809	0.14907	.	.	ENSG00000158683	ENST00000289672	T	0.23147	1.92	2.32	-0.669	0.11388	.	.	.	.	.	T	0.10508	0.0257	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.26710	-1.0095	9	0.41790	T	0.15	-1.8593	2.5217	0.04682	0.2327:0.4945:0.0:0.2728	.	2	Q8TDX9	PK1L1_HUMAN	S	2	ENSP00000289672:A2S	ENSP00000289672:A2S	A	-	1	0	PKD1L1	47954559	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.099000	0.11007	-0.195000	0.10382	-0.670000	0.03821	GCC		PASS	0.453	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		10	31	10	31	---	---	---	---
BAZ1B	9031	broad.mit.edu	37	7	72865253	72865253	+	Silent	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr7:72865253C>A	ENST00000339594.4	-	14	3842	c.3504G>T	c.(3502-3504)ctG>ctT	p.L1168L	BAZ1B_ENST00000404251.1_Silent_p.L1168L	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1168					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.L1168L(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCATCCCAAGCAGCACGTGCA	0.448																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	uc003tyc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7						c.(3502-3504)CTG>CTT		bromodomain adjacent to zinc finger domain, 1B							124.0	116.0	119.0					7																	72865253		2203	4300	6503	SO:0001819	synonymous_variant	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72865253C>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.3504G>T	7.37:g.72865253C>A							p.L1168L	NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN			14	3849	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	1168					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	ENST00000339594.4	37	c.3504G>T	CCDS5549.1																																																																																				PASS	0.448	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		5	51	5	51	---	---	---	---
BAZ1B	9031	broad.mit.edu	37	7	72891444	72891444	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr7:72891444C>A	ENST00000339594.4	-	7	2685	c.2347G>T	c.(2347-2349)Gtg>Ttg	p.V783L	BAZ1B_ENST00000404251.1_Missense_Mutation_p.V783L	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	783					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.V783L(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				tccttCAACACAGCAAGCCGT	0.448																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	uc003tyc.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7						c.(2347-2349)GTG>TTG		bromodomain adjacent to zinc finger domain, 1B							72.0	65.0	68.0					7																	72891444		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72891444C>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2347G>T	7.37:g.72891444C>A	ENSP00000342434:p.Val783Leu						p.V783L	NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN			7	2692	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	783			Potential.		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.2347G>T	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	C	8.641	0.895902	0.17686	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.60299	0.2;0.2	5.79	4.9	0.64082	.	0.250402	0.47093	D	0.000249	T	0.32436	0.0829	N	0.14661	0.345	0.19575	N	0.999962	B	0.22480	0.07	B	0.15870	0.014	T	0.20140	-1.0284	10	0.08179	T	0.78	-27.114	6.9578	0.24580	0.1464:0.7124:0.0:0.1412	.	783	Q9UIG0	BAZ1B_HUMAN	L	783	ENSP00000342434:V783L;ENSP00000385442:V783L	ENSP00000342434:V783L	V	-	1	0	BAZ1B	72529380	1.000000	0.71417	0.170000	0.22879	0.987000	0.75469	3.328000	0.52052	1.437000	0.47472	0.561000	0.74099	GTG		PASS	0.448	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		6	54	6	54	---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	77973166	77973166	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr7:77973166G>T	ENST00000354212.4	-	9	1590	c.1337C>A	c.(1336-1338)cCt>cAt	p.P446H	MAGI2_ENST00000419488.1_Missense_Mutation_p.P446H|MAGI2_ENST00000536571.1_Missense_Mutation_p.P278H|MAGI2_ENST00000522391.1_Missense_Mutation_p.P446H|MAGI2_ENST00000535697.1_Missense_Mutation_p.P283H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	446	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.P446H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AAACTCATCAGGCTCGTCTCC	0.473																																						uc003ugx.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(1336-1338)CCT>CAT		membrane associated guanylate kinase, WW and PDZ							123.0	107.0	113.0					7																	77973166		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77973166G>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1337C>A	7.37:g.77973166G>T	ENSP00000346151:p.Pro446His					MAGI2_uc003ugy.2_Missense_Mutation_p.P446H|MAGI2_uc010ldx.1_Missense_Mutation_p.P55H|MAGI2_uc010ldy.1_Missense_Mutation_p.P55H|MAGI2_uc011kgr.1_Missense_Mutation_p.P278H|MAGI2_uc011kgs.1_Missense_Mutation_p.P283H	p.P446H	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			9	1591	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	446			PDZ 2.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1337C>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835426	0.91117	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.72	5.72	0.89469	PDZ/DHR/GLGF (4);	0.000000	0.36444	U	0.002586	T	0.43500	0.1250	L	0.35542	1.07	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.991;0.967;1.0;1.0;0.996;1.0	T	0.30765	-0.9967	10	0.87932	D	0	.	18.8593	0.92266	0.0:0.0:1.0:0.0	.	283;278;446;446;446;446	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	H	446;446;446;446;278;283	ENSP00000405766:P446H;ENSP00000346151:P446H;ENSP00000428389:P446H;ENSP00000441584:P278H;ENSP00000441603:P283H	ENSP00000346151:P446H	P	-	2	0	MAGI2	77811102	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.689000	0.91719	0.591000	0.81541	CCT		PASS	0.473	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		3	47	3	47	---	---	---	---
HGF	3082	broad.mit.edu	37	7	81350120	81350120	+	Silent	SNP	G	G	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr7:81350120G>C	ENST00000222390.5	-	10	1438	c.1212C>G	c.(1210-1212)tcC>tcG	p.S404S	HGF_ENST00000457544.2_Silent_p.S399S	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	404	Kringle 4. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.S404S(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ATCTTGTTTGGGATAAGTTGC	0.328																																						uc003uhl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(1210-1212)TCC>TCG		hepatocyte growth factor isoform 1							124.0	113.0	117.0					7																	81350120		2203	4300	6503	SO:0001819	synonymous_variant	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81350120G>C		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1212C>G	7.37:g.81350120G>C						HGF_uc003uhm.2_Silent_p.S399S	p.S404S	NM_000601	NP_000592	P14210	HGF_HUMAN			10	1377	-			404			Kringle 4.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Silent	SNP	ENST00000222390.5	37	c.1212C>G	CCDS5597.1																																																																																				PASS	0.328	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		3	39	3	39	---	---	---	---
SHFM1	7979	broad.mit.edu	37	7	96251955	96251955	+	Splice_Site	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr7:96251955C>A	ENST00000417009.1	-	3	268	c.171G>T	c.(169-171)cgG>cgT	p.R57R	RP11-682N22.1_ENST00000606019.1_lincRNA			P60896	DSS1_HUMAN	split hand/foot malformation (ectrodactyly) type 1	57					double-strand break repair via homologous recombination (GO:0000724)	proteasome complex (GO:0000502)		p.R57R(1)		breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					TGTATCCAGCCCTGGAAAAAT	0.413								Homologous recombination																														uc010lfm.1																			1	Substitution - coding silent(1)		lung(1)										Homo sapiens cDNA, FLJ17342.							37.0	34.0	35.0					7																	96251955		876	1991	2867	SO:0001630	splice_region_variant	0							g.chr7:96251955C>A	U41515	CCDS5646.1	7q21.3	2010-04-22			ENSG00000127922	ENSG00000127922			10845	protein-coding gene	gene with protein product	"""deleted in split-hand/foot 1"""	601285		SHFD1		1895319, 8733122	Standard	NM_006304		Approved	DSS1, Shfdg1, ECD, SEM1, SHSF1	uc003uoi.3	P60896	OTTHUMG00000150680	ENST00000417009.1:c.171-1G>T	7.37:g.96251955C>A														5		-								Q13437|Q61067	RNA	SNP	ENST00000417009.1	37	c.591G>T																																																																																					PASS	0.413	SHFM1-008	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000319600.1	NM_006304	Silent	5	23	5	23	---	---	---	---
LMTK2	22853	broad.mit.edu	37	7	97823671	97823671	+	Silent	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr7:97823671G>T	ENST00000297293.5	+	11	4187	c.3894G>T	c.(3892-3894)ctG>ctT	p.L1298L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1298					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)	p.L1298L(2)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ACGAGGACCTGCGGGCCTTCA	0.632																																						uc003upd.1																			2	Substitution - coding silent(2)		lung(2)	lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16						c.(3892-3894)CTG>CTT		lemur tyrosine kinase 2 precursor							128.0	120.0	123.0					7																	97823671		2203	4300	6503	SO:0001819	synonymous_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97823671G>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3894G>T	7.37:g.97823671G>T							p.L1298L	NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN			11	4187	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1298					A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	37	c.3894G>T	CCDS5654.1																																																																																				PASS	0.632	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		3	46	3	46	---	---	---	---
LMTK2	22853	broad.mit.edu	37	7	97823674	97823674	+	Silent	SNP	G	G	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr7:97823674G>A	ENST00000297293.5	+	11	4190	c.3897G>A	c.(3895-3897)cgG>cgA	p.R1299R		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1299					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)	p.R1299R(2)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGGACCTGCGGGCCTTCAACC	0.632																																						uc003upd.1																			2	Substitution - coding silent(2)		lung(2)	lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16						c.(3895-3897)CGG>CGA		lemur tyrosine kinase 2 precursor							126.0	118.0	121.0					7																	97823674		2203	4300	6503	SO:0001819	synonymous_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97823674G>A	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3897G>A	7.37:g.97823674G>A							p.R1299R	NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN			11	4190	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1299					A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	37	c.3897G>A	CCDS5654.1																																																																																				PASS	0.632	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		4	45	4	45	---	---	---	---
ZNF3	7551	broad.mit.edu	37	7	99669446	99669446	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr7:99669446T>C	ENST00000424697.1	-	6	967	c.661A>G	c.(661-663)Atc>Gtc	p.I221V	ZNF3_ENST00000303915.6_Missense_Mutation_p.I221V|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000299667.4_Missense_Mutation_p.I221V	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	221					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.I221V(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CCAGTGTGGATTCTCTGATGT	0.463																																						uc003usq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(661-663)ATC>GTC		zinc finger protein 3 isoform 2							72.0	80.0	77.0					7																	99669446		2200	4296	6496	SO:0001583	missense	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99669446T>C	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.661A>G	7.37:g.99669446T>C	ENSP00000415358:p.Ile221Val					ZNF3_uc003usp.2_Intron|ZNF3_uc003usr.2_Missense_Mutation_p.I221V|ZNF3_uc010lgj.2_Missense_Mutation_p.I185V|ZNF3_uc003uss.2_Missense_Mutation_p.I228V|ZNF3_uc003ust.3_Missense_Mutation_p.I221V	p.I221V	NM_032924	NP_116313	P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		6	968	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	221			C2H2-type 1.		D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	c.661A>G	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.668419	0.47677	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	T;T;T	0.07114	3.22;3.22;3.22	4.6	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000048	T	0.10035	0.0246	N	0.02960	-0.455	0.32492	N	0.540072	D;B	0.53151	0.958;0.437	D;B	0.70716	0.97;0.268	T	0.29336	-1.0015	10	0.48119	T	0.1	-26.6288	12.2643	0.54668	0.0:0.0:0.0:1.0	.	204;221	B3KRP4;P17036	.;ZNF3_HUMAN	V	221	ENSP00000415358:I221V;ENSP00000306372:I221V;ENSP00000299667:I221V	ENSP00000299667:I221V	I	-	1	0	ZNF3	99507382	0.001000	0.12720	1.000000	0.80357	0.991000	0.79684	0.993000	0.29680	2.075000	0.62263	0.533000	0.62120	ATC		PASS	0.463	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		10	65	10	65	---	---	---	---
DNAJB9	4189	broad.mit.edu	37	7	108212208	108212208	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr7:108212208G>T	ENST00000249356.3	+	2	584	c.38G>T	c.(37-39)tGc>tTc	p.C13F	DNAJB9_ENST00000465725.1_3'UTR|THAP5_ENST00000415914.3_5'Flank|THAP5_ENST00000438865.1_5'Flank|THAP5_ENST00000493722.1_5'Flank|THAP5_ENST00000313516.5_5'Flank	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	13					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)	p.C13F(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						TTTGCAATCTGCATTTTAATG	0.348																																						uc003vfn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(37-39)TGC>TTC		DnaJ (Hsp40) homolog, subfamily B, member 9							66.0	74.0	71.0					7																	108212208		2203	4300	6503	SO:0001583	missense	4189				ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding	g.chr7:108212208G>T	AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"""Heat shock proteins / DNAJ (HSP40)"""	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.38G>T	7.37:g.108212208G>T	ENSP00000249356:p.Cys13Phe					THAP5_uc003vfl.2_5'Flank|THAP5_uc003vfm.2_5'Flank	p.C13F	NM_012328	NP_036460	Q9UBS3	DNJB9_HUMAN			2	240	+			13						Missense_Mutation	SNP	ENST00000249356.3	37	c.38G>T	CCDS5752.1	.	.	.	.	.	.	.	.	.	.	G	8.322	0.824611	0.16678	.	.	ENSG00000128590	ENST00000249356	T	0.61040	0.14	5.19	3.4	0.38934	Heat shock protein DnaJ, N-terminal (1);	0.253991	0.47093	D	0.000252	T	0.38746	0.1052	N	0.17800	0.525	0.51767	D	0.999931	B	0.06786	0.001	B	0.06405	0.002	T	0.09640	-1.0665	9	.	.	.	.	11.0363	0.47802	0.1383:0.0:0.8617:0.0	.	13	Q9UBS3	DNJB9_HUMAN	F	13	ENSP00000249356:C13F	.	C	+	2	0	DNAJB9	107999444	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.225000	0.65294	0.585000	0.29608	-0.471000	0.05019	TGC		PASS	0.348	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337414.1			9	70	9	70	---	---	---	---
CFTR	1080	broad.mit.edu	37	7	117171036	117171036	+	Missense_Mutation	SNP	C	C	G	rs397508583		TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr7:117171036C>G	ENST00000003084.6	+	4	489	c.357C>G	c.(355-357)atC>atG	p.I119M	CFTR_ENST00000454343.1_Missense_Mutation_p.I119M	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	119	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.I119M(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	AACGCTCTATCGCGATTTATC	0.453									Cystic Fibrosis																													uc003vjd.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(2)|ovary(1)	5	GRCh37	CD043669	CFTR	D		c.(355-357)ATC>ATG		cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)						111.0	95.0	100.0					7																	117171036		2203	4300	6503	SO:0001583	missense	1080	Cystic_Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117171036C>G	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.357C>G	7.37:g.117171036C>G	ENSP00000003084:p.Ile119Met					CFTR_uc011knq.1_Translation_Start_Site	p.I119M	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		4	489	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		119			Helical; Name=2; (Potential).|ABC transmembrane type-1 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.357C>G	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.063428	0.36373	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.91740	-2.55;-2.55;-2.9	5.73	-4.18	0.03846	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.144145	0.64402	D	0.000008	D	0.86952	0.6057	N	0.11427	0.14	0.34851	D	0.74163	D	0.71674	0.998	D	0.72982	0.979	D	0.83914	0.0297	9	.	.	.	-21.624	7.3115	0.26477	0.2255:0.4403:0.0:0.3342	.	119	P13569	CFTR_HUMAN	M	119	ENSP00000003084:I119M;ENSP00000403677:I119M;ENSP00000389119:I119M	.	I	+	3	3	CFTR	116958272	0.645000	0.27286	0.975000	0.42487	0.137000	0.21094	-0.210000	0.09345	-0.611000	0.05709	-1.604000	0.00809	ATC		PASS	0.453	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		3	33	3	33	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149502592	149502592	+	RNA	SNP	G	G	T	rs111879522		TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr7:149502592G>T	ENST00000378016.2	+	0	8405							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGTCGTTCCCGACTCTGCCCC	0.677																																						uc010lpk.2																			0					0						c.(8404-8406)CGA>CTA		SCO-spondin precursor							34.0	41.0	39.0					7																	149502592		1907	4097	6004			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149502592G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149502592G>T							p.R2802L	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		58	8405	+	Melanoma(164;0.165)|Ovarian(565;0.177)		2802			TSP type-1 7.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.8405G>T																																																																																					PASS	0.677	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				5	34	5	34	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149520539	149520539	+	RNA	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr7:149520539C>A	ENST00000378016.2	+	0	13357							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGGACCTGCCACCCTGCCA	0.642																																						uc010lpk.2																			0					0						c.(13357-13359)CCA>ACA		SCO-spondin precursor							36.0	42.0	40.0					7																	149520539		2041	4195	6236			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149520539C>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149520539C>A						SSPO_uc010lpm.1_RNA|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_Intron	p.P4453T	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		93	13357	+	Melanoma(164;0.165)|Ovarian(565;0.177)		4453					Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.13357C>A																																																																																					PASS	0.642	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				5	29	5	29	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151879119	151879119	+	Silent	SNP	T	T	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr7:151879119T>C	ENST00000262189.6	-	36	6044	c.5826A>G	c.(5824-5826)acA>acG	p.T1942T	KMT2C_ENST00000355193.2_Silent_p.T1942T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1942	Pro-rich.				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.T1942T(2)									GCCTATTTGCTGTTGTCTCAT	0.453																																						uc003wla.2										N							medulloblastoma		2	Substitution - coding silent(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.(5824-5826)ACA>ACG		myeloid/lymphoid or mixed-lineage leukemia 3							115.0	120.0	118.0					7																	151879119		2203	4300	6503	SO:0001819	synonymous_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151879119T>C	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.5826A>G	7.37:g.151879119T>C						MLL3_uc003wkz.2_Silent_p.T1003T	p.T1942T	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)	36	6045	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1942			Pro-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.5826A>G	CCDS5931.1																																																																																				PASS	0.453	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			9	100	9	100	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3216711	3216711	+	Silent	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr8:3216711G>T	ENST00000520002.1	-	22	3825	c.3270C>A	c.(3268-3270)ggC>ggA	p.G1090G	CSMD1_ENST00000539096.1_Silent_p.G1089G|CSMD1_ENST00000602723.1_Silent_p.G1090G|CSMD1_ENST00000400186.3_Silent_p.G1090G|CSMD1_ENST00000542608.1_Silent_p.G1089G|CSMD1_ENST00000602557.1_Silent_p.G1090G|CSMD1_ENST00000537824.1_Silent_p.G1089G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1090	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.G818G(1)|p.G1089G(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACACACGGCGGCCCCCACCCA	0.552																																						uc011kwk.1																			2	Substitution - coding silent(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(3268-3270)GGC>GGA		CUB and Sushi multiple domains 1 precursor							69.0	74.0	72.0					8																	3216711		2203	4300	6503	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3216711G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3270C>A	8.37:g.3216711G>T						CSMD1_uc011kwj.1_Silent_p.G482G|CSMD1_uc003wqe.2_Silent_p.G246G	p.G1090G	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	21	3660	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1090			Sushi 6.|Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.3270C>A		.	.	.	.	.	.	.	.	.	.	g	10.18	1.278030	0.23307	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.34	3.49	0.39957	.	.	.	.	.	T	0.53899	0.1825	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46569	-0.9182	4	.	.	.	.	5.0718	0.14611	0.2376:0.0:0.6073:0.1551	.	.	.	.	T	570	.	.	P	-	1	0	CSMD1	3204118	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	0.339000	0.19875	0.581000	0.29539	0.550000	0.68814	CCG		PASS	0.552	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		5	41	5	41	---	---	---	---
NEFM	4741	broad.mit.edu	37	8	24775515	24775515	+	Missense_Mutation	SNP	A	A	T	rs201520929		TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr8:24775515A>T	ENST00000221166.5	+	3	2929	c.2147A>T	c.(2146-2148)gAg>gTg	p.E716V	NEFM_ENST00000518131.1_Intron|NEFM_ENST00000437366.2_Missense_Mutation_p.E677V|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.E340V			P07197	NFM_HUMAN	neurofilament, medium polypeptide	716	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)	p.E716V(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		cccaaggaagagaaggtagag	0.473																																						uc003xed.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(2146-2148)GAG>GTG		neurofilament, medium polypeptide 150kDa isoform							57.0	57.0	57.0					8																	24775515		2203	4298	6501	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24775515A>T	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.2147A>T	8.37:g.24775515A>T	ENSP00000221166:p.Glu716Val					NEFM_uc011lac.1_Intron|NEFM_uc010lue.2_Missense_Mutation_p.E340V	p.E716V	NM_005382	NP_005373	P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	3	2180	+		Prostate(55;0.157)	716			Tail.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.2147A>T	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	A	10.61	1.398265	0.25205	.	.	ENSG00000104722	ENST00000221166;ENST00000437366;ENST00000433454	D;D;D	0.94723	-1.94;-1.87;-3.5	4.08	4.08	0.47627	.	0.725246	0.11839	N	0.524468	D	0.94182	0.8133	M	0.61703	1.905	0.41115	D	0.985772	P	0.47034	0.889	P	0.46796	0.527	D	0.92150	0.5727	10	0.40728	T	0.16	.	13.3297	0.60479	1.0:0.0:0.0:0.0	.	716	P07197	NFM_HUMAN	V	716;677;340	ENSP00000221166:E716V;ENSP00000410137:E677V;ENSP00000412295:E340V	ENSP00000221166:E716V	E	+	2	0	NEFM	24831420	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	2.803000	0.47924	1.605000	0.50152	0.155000	0.16302	GAG		PASS	0.473	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		5	7	5	7	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77761753	77761753	+	Nonsense_Mutation	SNP	T	T	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr8:77761753T>A	ENST00000521891.2	+	8	4099	c.3651T>A	c.(3649-3651)taT>taA	p.Y1217*	ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.Y1191*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.Y1172*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.Y1172*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.Y1217*(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCAGTTCTATCAATGTCCTT	0.398										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(3514-3516)TAT>TAA		zinc finger homeodomain 4							114.0	108.0	110.0					8																	77761753		1909	4127	6036	SO:0001587	stop_gained	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77761753T>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3651T>A	8.37:g.77761753T>A	ENSP00000430497:p.Tyr1217*	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Nonsense_Mutation_p.Y1217*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.Y1172*	p.Y1172*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		8	3903	+			1172			C2H2-type 8.		G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP	ENST00000521891.2	37	c.3516T>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	45	11.431397	0.99560	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	4.71	2.31	0.28768	.	0.196377	0.24901	U	0.034690	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.7625	0.28961	0.0:0.3218:0.0:0.6782	.	.	.	.	X	1217;1217;1172;1172;1191	.	ENSP00000050961:Y1172X	Y	+	3	2	ZFHX4	77924308	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	0.893000	0.28336	0.391000	0.25143	0.528000	0.53228	TAT		PASS	0.398	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		5	54	5	54	---	---	---	---
FABP5	2171	broad.mit.edu	37	8	82196796	82196796	+	Silent	SNP	A	A	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr8:82196796A>G	ENST00000297258.6	+	4	635	c.402A>G	c.(400-402)gtA>gtG	p.V134V	FABP5_ENST00000396359.1_Silent_p.V100V	NM_001444.2	NP_001435.1	Q01469	FABP5_HUMAN	fatty acid binding protein 5 (psoriasis-associated)	134					epidermis development (GO:0008544)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|response to wounding (GO:0009611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	fatty acid binding (GO:0005504)|lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.V134V(1)		large_intestine(1)|lung(3)	4	Lung NSC(7;3.57e-05)|all_lung(9;0.00011)		Epithelial(68;0.102)			ATGAAAAAGTAGAATAAAAAT	0.348																																						uc003yca.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(400-402)GTA>GTG		fatty acid binding protein 5							78.0	79.0	78.0					8																	82196796		2203	4298	6501	SO:0001819	synonymous_variant	2171				epidermis development	cytoplasm	fatty acid binding|protein binding|transporter activity	g.chr8:82196796A>G	M94856	CCDS6228.1	8q21.13	2013-03-01			ENSG00000164687	ENSG00000164687		"""Fatty acid binding protein family"""	3560	protein-coding gene	gene with protein product		605168				1512466	Standard	NM_001444		Approved	E-FABP, PA-FABP, KFABP	uc003yca.2	Q01469	OTTHUMG00000134313	ENST00000297258.6:c.402A>G	8.37:g.82196796A>G							p.V134V	NM_001444	NP_001435	Q01469	FABP5_HUMAN	Epithelial(68;0.102)		4	450	+	Lung NSC(7;3.57e-05)|all_lung(9;0.00011)		134					B2R4K0	Silent	SNP	ENST00000297258.6	37	c.402A>G	CCDS6228.1																																																																																				PASS	0.348	FABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259329.1	NM_001444		5	28	5	28	---	---	---	---
RUNX1T1	862	broad.mit.edu	37	8	93029532	93029532	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr8:93029532T>C	ENST00000523629.1	-	3	602	c.148A>G	c.(148-150)Agg>Ggg	p.R50G	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R13G|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R13G|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R23G|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R13G|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R61G|RUNX1T1_ENST00000522163.1_5'Flank|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R50G|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R23G|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.R13G	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	50					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R61G(1)|p.R13G(1)|p.R50G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GGAGTCAGCCTAGATTGCGTC	0.473																																						uc003yfd.2																			3	Substitution - Missense(3)		lung(3)	lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(148-150)AGG>GGG		acute myelogenous leukemia 1 translocation 1							192.0	154.0	167.0					8																	93029532		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93029532T>C	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.148A>G	8.37:g.93029532T>C	ENSP00000428543:p.Arg50Gly					RUNX1T1_uc003yfc.1_Missense_Mutation_p.R23G|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R13G|RUNX1T1_uc010mao.2_Missense_Mutation_p.R23G|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R61G|RUNX1T1_uc003yfh.1_Missense_Mutation_p.R13G|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R13G|RUNX1T1_uc003yff.1_Missense_Mutation_p.R13G|RUNX1T1_uc003yfg.1_Missense_Mutation_p.R13G	p.R50G	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		2	232	-			50					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.148A>G	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.176831	0.78564	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992;ENST00000521054;ENST00000519847;ENST00000517792;ENST00000522467;ENST00000517919;ENST00000521733;ENST00000520556;ENST00000521319;ENST00000520583;ENST00000523168;ENST00000518823;ENST00000518317;ENST00000521375;ENST00000520974;ENST00000518832;ENST00000518954;ENST00000519061	T;T;T;T;T;T;T;T;T;T;T	0.51574	1.3;1.32;1.3;1.25;1.25;1.25;1.31;1.32;0.7;0.72;1.3	5.66	-0.158	0.13383	.	0.000000	0.85682	D	0.000000	T	0.60843	0.2300	L	0.54323	1.7	0.58432	D	0.999997	D;D;P;D;P	0.89917	0.996;1.0;0.859;1.0;0.913	D;D;P;D;P	0.87578	0.967;0.997;0.678;0.998;0.864	T	0.63400	-0.6646	10	0.59425	D	0.04	-6.5905	14.7464	0.69492	0.0:0.0:0.4641:0.5359	.	61;61;23;50;23	E7EPN4;B7Z4P4;B2R6I9;Q06455;Q06455-2	.;.;.;MTG8_HUMAN;.	G	50;23;50;13;13;13;61;23;13;50;13;50;13;50;50;23;13;13;50;50;23;23;50;50;13;50;23	ENSP00000428543:R50G;ENSP00000379520:R23G;ENSP00000265814:R50G;ENSP00000353504:R13G;ENSP00000390137:R13G;ENSP00000428742:R13G;ENSP00000402257:R61G;ENSP00000430728:R23G;ENSP00000429728:R13G;ENSP00000431094:R50G;ENSP00000427763:R13G	ENSP00000265814:R50G	R	-	1	2	RUNX1T1	93098708	1.000000	0.71417	0.713000	0.30519	0.996000	0.88848	3.414000	0.52693	0.107000	0.17824	-0.323000	0.08544	AGG		PASS	0.473	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		4	49	4	49	---	---	---	---
MTDH	92140	broad.mit.edu	37	8	98703374	98703374	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr8:98703374T>A	ENST00000336273.3	+	6	1334	c.1006T>A	c.(1006-1008)Tgg>Agg	p.W336R	MTDH_ENST00000519934.1_Missense_Mutation_p.W313R	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	336					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)	p.W336R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TGGAAAAGACTGGGGAAGGAG	0.383																																						uc003yhz.2																			1	Substitution - Missense(1)		lung(1)	liver(1)|central_nervous_system(1)	2						c.(1006-1008)TGG>AGG		metadherin							125.0	136.0	132.0					8																	98703374		2203	4300	6503	SO:0001583	missense	92140				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	g.chr8:98703374T>A	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1006T>A	8.37:g.98703374T>A	ENSP00000338235:p.Trp336Arg					MTDH_uc010mbf.2_RNA	p.W336R	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		6	1334	+	Breast(36;2.56e-06)		336			Cytoplasmic (Potential).		Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	c.1006T>A	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.134914	0.77662	.	.	ENSG00000147649	ENST00000336273;ENST00000519934;ENST00000521933	T;T	0.55930	0.92;0.49	6.06	6.06	0.98353	.	0.064498	0.64402	D	0.000002	T	0.59487	0.2197	L	0.44542	1.39	0.54753	D	0.999988	D	0.53885	0.963	P	0.56042	0.79	T	0.55860	-0.8074	10	0.33141	T	0.24	-0.5795	15.1956	0.73084	0.0:0.0:0.0:1.0	.	336	Q86UE4	LYRIC_HUMAN	R	336;313;6	ENSP00000338235:W336R;ENSP00000428168:W313R	ENSP00000338235:W336R	W	+	1	0	MTDH	98772550	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.505000	0.66981	2.323000	0.78572	0.528000	0.53228	TGG		PASS	0.383	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			4	51	4	51	---	---	---	---
SCRIB	23513	broad.mit.edu	37	8	144894454	144894454	+	Silent	SNP	G	G	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr8:144894454G>A	ENST00000320476.3	-	9	894	c.888C>T	c.(886-888)ctC>ctT	p.L296L	MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000356994.2_Silent_p.L296L|SCRIB_ENST00000377533.3_Silent_p.L215L	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	296	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)		p.L296L(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGTTCTCCGTGAGGATCAGCT	0.592																																					Pancreas(51;966 1133 10533 14576 29674)	uc003yzp.1																			2	Substitution - coding silent(2)		lung(2)	urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(886-888)CTC>CTT		scribble isoform b							162.0	145.0	151.0					8																	144894454		2203	4300	6503	SO:0001819	synonymous_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144894454G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.888C>T	8.37:g.144894454G>A						SCRIB_uc003yzo.1_Silent_p.L296L	p.L296L	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		9	895	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		296			LRR 12.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	c.888C>T	CCDS6411.1																																																																																				PASS	0.592	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		14	65	14	65	---	---	---	---
KANK1	23189	broad.mit.edu	37	9	713340	713340	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr9:713340G>T	ENST00000382303.1	+	7	3226	c.2574G>T	c.(2572-2574)caG>caT	p.Q858H	KANK1_ENST00000382297.2_Missense_Mutation_p.Q858H|KANK1_ENST00000382293.3_Missense_Mutation_p.Q700H|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	858					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)	p.Q858H(1)|p.Q700H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CTCACTCACAGATGGGCTCCC	0.517																																						uc003zgl.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2572-2574)CAG>CAT		KN motif and ankyrin repeat domains 1 isoform a							126.0	120.0	122.0					9																	713340		2203	4300	6503	SO:0001583	missense	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:713340G>T	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.2574G>T	9.37:g.713340G>T	ENSP00000371740:p.Gln858His					KANK1_uc003zgm.2_Missense_Mutation_p.Q858H|KANK1_uc003zgn.1_Missense_Mutation_p.Q858H|KANK1_uc003zgo.1_Missense_Mutation_p.Q858H|KANK1_uc003zgp.1_Missense_Mutation_p.Q858H|KANK1_uc003zgq.2_Missense_Mutation_p.Q700H|KANK1_uc003zgr.1_Missense_Mutation_p.Q700H|KANK1_uc003zgs.1_Missense_Mutation_p.Q700H	p.Q858H	NM_015158	NP_055973	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	7	3223	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	858					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	c.2574G>T	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489721	0.84962	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.19938	2.11;2.11;2.11	5.79	5.79	0.91817	.	0.000000	0.52532	D	0.000080	T	0.47154	0.1430	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.979	T	0.43686	-0.9376	10	0.87932	D	0	-31.4217	14.2175	0.65802	0.0709:0.0:0.9291:0.0	.	858;858	Q5W0W1;Q14678	.;KANK1_HUMAN	H	858;858;858;700	ENSP00000371740:Q858H;ENSP00000371734:Q858H;ENSP00000371730:Q700H	ENSP00000346479:Q858H	Q	+	3	2	KANK1	703340	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.849000	0.62882	2.734000	0.93682	0.655000	0.94253	CAG		PASS	0.517	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		10	62	10	62	---	---	---	---
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	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.S168S(5)		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)		tgctgctgctgctactgctgc	0.537			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		5	Substitution - coding silent(5)		lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	lung(2)|ovary(1)	3						c.(502-504)AGC>AGT		myeloid/lymphoid or mixed-lineage leukemia							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>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.504C>T	9.37:g.20414340G>A						MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.A130V	p.S168S	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	763	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				PASS	0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		3	39	3	39	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32633524	32633524	+	Missense_Mutation	SNP	C	C	A	rs527429049		TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr9:32633524C>A	ENST00000242310.4	-	1	2143	c.2054G>T	c.(2053-2055)cGc>cTc	p.R685L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	685					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.R685L(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTGAGGTGTGCGCATAAAAAA	0.453																																						uc003zrg.1																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(2053-2055)CGC>CTC		TBP-associated factor RNA polymerase 1-like							179.0	163.0	169.0					9																	32633524		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633524C>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2054G>T	9.37:g.32633524C>A	ENSP00000418379:p.Arg685Leu					uc003zrh.1_RNA	p.R685L	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2144	-			685					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.2054G>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080902	0.76528	.	.	ENSG00000122728	ENST00000242310	T	0.10099	2.91	0.633	0.633	0.17712	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	M	0.83603	2.65	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	T	0.02797	-1.1109	10	0.54805	T	0.06	.	7.0483	0.25059	0.0:0.9999:0.0:1.0E-4	.	685	Q8IZX4	TAF1L_HUMAN	L	685	ENSP00000418379:R685L	ENSP00000418379:R685L	R	-	2	0	TAF1L	32623524	1.000000	0.71417	0.999000	0.59377	0.885000	0.51271	2.490000	0.45294	0.632000	0.30432	0.195000	0.17529	CGC		PASS	0.453	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			19	86	19	86	---	---	---	---
TMEM8B	51754	broad.mit.edu	37	9	35853663	35853663	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr9:35853663G>T	ENST00000377991.4	+	14	2260	c.1245G>T	c.(1243-1245)atG>atT	p.M415I	TMEM8B_ENST00000377988.2_Missense_Mutation_p.M415I	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	415					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.M415I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						TTTGGCATATGCTCATTGCGG	0.587																																						uc003zym.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1243-1245)ATG>ATT		transmembrane protein 8B isoform a							99.0	100.0	99.0					9																	35853663		1985	4165	6150	SO:0001583	missense	51754				cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding	g.chr9:35853663G>T	BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma expressed 6"""		"""chromosome 9 open reading frame 127"""	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.1245G>T	9.37:g.35853663G>T	ENSP00000367230:p.Met415Ile					TMEM8B_uc003zyo.2_Missense_Mutation_p.M415I	p.M415I	NM_001042589	NP_001036054	A6NDV4	TMM8B_HUMAN			14	2260	+			415			Helical; (Potential).		B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Missense_Mutation	SNP	ENST00000377991.4	37	c.1245G>T	CCDS43800.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234808	0.22626	.	.	ENSG00000137103	ENST00000377991;ENST00000377988	T;T	0.38401	1.14;1.14	5.49	5.49	0.81192	.	.	.	.	.	T	0.19406	0.0466	N	0.05259	-0.085	0.80722	D	1	P	0.35033	0.481	B	0.36244	0.22	T	0.08432	-1.0722	9	0.02654	T	1	.	17.9596	0.89081	0.0:0.0:1.0:0.0	.	415	A6NDV4	TMM8B_HUMAN	I	415	ENSP00000367230:M415I;ENSP00000367227:M415I	ENSP00000367227:M415I	M	+	3	0	TMEM8B	35843663	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.628000	0.67791	2.583000	0.87209	0.555000	0.69702	ATG		PASS	0.587	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052388.2	NM_016446		12	64	12	64	---	---	---	---
CTSL	1514	broad.mit.edu	37	9	90345351	90345351	+	Silent	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr9:90345351G>T	ENST00000343150.5	+	7	1730	c.840G>T	c.(838-840)gtG>gtT	p.V280V	CTSL_ENST00000495822.1_3'UTR|CTSL_ENST00000340342.6_Silent_p.V280V			P07711	CATL1_HUMAN	cathepsin L	280					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)	p.V280V(2)									GTGTGCTGGTGGTTGGCTACG	0.418																																						uc004aph.2																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)	ovary(3)	3						c.(838-840)GTG>GTT		cathepsin L1 preproprotein	Glucagon recombinant(DB00040)						125.0	115.0	118.0					9																	90345351		2203	4300	6503	SO:0001819	synonymous_variant	1514				macrophage apoptosis|proteolysis	extracellular region|lysosome|nucleus	cysteine-type endopeptidase activity|histone binding	g.chr9:90345351G>T	X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"""Cathepsins"""	2537	protein-coding gene	gene with protein product		116880	"""cathepsin L1"""	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.840G>T	9.37:g.90345351G>T						CTSL1_uc004api.2_Silent_p.V280V|CTSL1_uc004apj.2_Silent_p.V225V|CTSL1_uc010mqh.2_Silent_p.V98V|CTSL1_uc004apk.2_Silent_p.V280V|CTSL1_uc004apl.2_Silent_p.V280V	p.V280V	NM_001912	NP_001903	P07711	CATL1_HUMAN			7	1190	+			280					Q6IAV1|Q96QJ0	Silent	SNP	ENST00000343150.5	37	c.840G>T	CCDS6675.1																																																																																				PASS	0.418	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1	NM_001912		6	55	6	55	---	---	---	---
IPPK	64768	broad.mit.edu	37	9	95411767	95411767	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr9:95411767C>A	ENST00000287996.3	-	5	658	c.382G>T	c.(382-384)Gag>Tag	p.E128*		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	128					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)	p.E128*(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GGCCGGTGCTCTGCAAAGCGG	0.507																																						uc004asl.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(382-384)GAG>TAG		inositol 1,3,4,5,6-pentakisphosphate 2-kinase							155.0	119.0	131.0					9																	95411767		2203	4300	6503	SO:0001587	stop_gained	64768				inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity	g.chr9:95411767C>A	AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 12"""	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.382G>T	9.37:g.95411767C>A	ENSP00000287996:p.Glu128*						p.E128*	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN			5	659	-			128					Q5T9F7|Q9H7V8	Nonsense_Mutation	SNP	ENST00000287996.3	37	c.382G>T	CCDS6699.1	.	.	.	.	.	.	.	.	.	.	C	38	7.052856	0.98029	.	.	ENSG00000127080	ENST00000287996	.	.	.	4.9	4.9	0.64082	.	0.146062	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-37.0712	17.7156	0.88336	0.0:1.0:0.0:0.0	.	.	.	.	X	128	.	ENSP00000287996:E128X	E	-	1	0	IPPK	94451588	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	4.136000	0.58004	2.654000	0.90174	0.557000	0.71058	GAG		PASS	0.507	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053101.1	NM_022755		6	37	6	37	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109692032	109692032	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr9:109692032C>G	ENST00000277225.5	+	3	6128	c.5839C>G	c.(5839-5841)Caa>Gaa	p.Q1947E	ZNF462_ENST00000441147.2_Missense_Mutation_p.Q792E|ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000457913.1_Missense_Mutation_p.Q1947E|ZNF462_ENST00000542028.1_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1947					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q1947E(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGATTTCAAACAAGAGAGGGT	0.488																																						uc004bcz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(5839-5841)CAA>GAA		zinc finger protein 462							103.0	101.0	102.0					9																	109692032		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109692032C>G	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5839C>G	9.37:g.109692032C>G	ENSP00000277225:p.Gln1947Glu					ZNF462_uc010mto.2_Missense_Mutation_p.Q1795E|ZNF462_uc004bda.2_Missense_Mutation_p.Q1795E|ZNF462_uc011lvz.1_5'Flank	p.Q1947E	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			3	6128	+			1947					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.5839C>G	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	7.321	0.616939	0.14129	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.05081	3.5;3.92;4.03;4.05	5.92	5.92	0.95590	.	0.337088	0.31041	N	0.008362	T	0.03178	0.0093	N	0.12182	0.205	0.80722	D	1	B;P	0.34699	0.056;0.464	B;B	0.23574	0.018;0.047	T	0.36648	-0.9739	10	0.02654	T	1	.	15.0828	0.72127	0.1417:0.8583:0.0:0.0	.	1947;1947	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	E	1947;1947;830;792	ENSP00000277225:Q1947E;ENSP00000414570:Q1947E;ENSP00000363818:Q830E;ENSP00000397306:Q792E	ENSP00000277225:Q1947E	Q	+	1	0	ZNF462	108731853	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.254000	0.51477	2.813000	0.96785	0.561000	0.74099	CAA		PASS	0.488	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		4	27	4	27	---	---	---	---
NRG3	10718	broad.mit.edu	37	10	83635583	83635583	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr10:83635583C>T	ENST00000404547.1	+	1	487	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	NRG3_ENST00000404576.2_5'Flank|NRG3_ENST00000372141.2_Missense_Mutation_p.R163W|NRG3_ENST00000372142.2_5'Flank|NRG3_ENST00000556918.1_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	163	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.R163W(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CACCATCACGCGGGCGCCCAC	0.736																																						uc001kco.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|breast(1)	6						c.(487-489)CGG>TGG		neuregulin 3 isoform 1							30.0	36.0	34.0					10																	83635583		2201	4297	6498	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:83635583C>T	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.487C>T	10.37:g.83635583C>T	ENSP00000384796:p.Arg163Trp					NRG3_uc010qlz.1_Missense_Mutation_p.R163W|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	p.R163W	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	1	514	+			163			Ser/Thr-rich.|Extracellular (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.487C>T	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697320	0.68386	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287	T;T	0.34472	1.36;1.38	3.23	3.23	0.37069	.	0.240030	0.19831	U	0.105095	T	0.40932	0.1137	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67548	0.952;0.952	T	0.30880	-0.9963	10	0.45353	T	0.12	-5.2452	12.3554	0.55171	0.0:1.0:0.0:0.0	.	163;163	B9EGV5;P56975-4	.;.	W	163	ENSP00000361214:R163W;ENSP00000384796:R163W	ENSP00000361214:R163W	R	+	1	2	NRG3	83625563	0.414000	0.25408	1.000000	0.80357	0.980000	0.70556	0.369000	0.20416	1.808000	0.52836	0.478000	0.44815	CGG		PASS	0.736	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		3	24	3	24	---	---	---	---
WBP1L	54838	broad.mit.edu	37	10	104572554	104572554	+	Silent	SNP	C	C	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr10:104572554C>T	ENST00000369889.4	+	4	637	c.495C>T	c.(493-495)agC>agT	p.S165S	WBP1L_ENST00000448841.1_Silent_p.S186S	NM_017787.4	NP_060257.4	Q9NX94	WBP1L_HUMAN	WW domain binding protein 1-like	165	Pro-rich.					integral component of membrane (GO:0016021)		p.S165S(1)									CTGAGCCCAGCAGAAGCAGCA	0.652																																						uc001kwe.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(493-495)AGC>AGT		hypothetical protein LOC54838 isoform 2							44.0	44.0	44.0					10																	104572554		2203	4300	6503	SO:0001819	synonymous_variant	54838					integral to membrane		g.chr10:104572554C>T	AK056285	CCDS7540.1, CCDS44473.1	10q24.33	2012-05-02	2012-05-02	2012-05-02	ENSG00000166272	ENSG00000166272			23510	protein-coding gene	gene with protein product	"""outcome predictor in acute leukemia 1"""	611129	"""chromosome 10 open reading frame 26"""	C10orf26			Standard	NM_017787		Approved	FLJ20154, OPAL1	uc001kwf.4	Q9NX94	OTTHUMG00000018968	ENST00000369889.4:c.495C>T	10.37:g.104572554C>T						C10orf26_uc001kwf.3_Silent_p.S186S|C10orf26_uc009xxg.1_Intron	p.S165S	NM_017787	NP_060257	Q9NX94	OPA1L_HUMAN		Epithelial(162;6.14e-09)|all cancers(201;1.66e-07)|BRCA - Breast invasive adenocarcinoma(275;0.224)	4	755	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	165			Pro-rich.		B3KPF4|B7Z6S7|D3DR90|Q1EG70|Q2HIY7|Q5F2G6	Silent	SNP	ENST00000369889.4	37	c.495C>T	CCDS7540.1																																																																																				PASS	0.652	WBP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050100.1	NM_017787		4	26	4	26	---	---	---	---
TCERG1L	256536	broad.mit.edu	37	10	132944776	132944776	+	Silent	SNP	T	T	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr10:132944776T>G	ENST00000368642.4	-	7	1267	c.1182A>C	c.(1180-1182)gcA>gcC	p.A394A		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	394								p.A353A(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TACTTGCTGGTGCCTCCAGCT	0.493																																						uc001lkp.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)	4						c.(1180-1182)GCA>GCC		transcription elongation regulator 1-like							104.0	100.0	101.0					10																	132944776		2203	4300	6503	SO:0001819	synonymous_variant	256536							g.chr10:132944776T>G	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1182A>C	10.37:g.132944776T>G						TCERG1L_uc009yax.1_RNA	p.A394A	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	7	1268	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	394					Q5VWI2|Q86XM8	Silent	SNP	ENST00000368642.4	37	c.1182A>C	CCDS7662.2																																																																																				PASS	0.493	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		11	35	11	35	---	---	---	---
CRACR2B	283229	broad.mit.edu	37	11	828686	828686	+	Missense_Mutation	SNP	C	C	G	rs553411358		TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr11:828686C>G	ENST00000525077.1	+	1	180	c.79C>G	c.(79-81)Cgg>Ggg	p.R27G	EFCAB4A_ENST00000450448.1_Missense_Mutation_p.R27G|EFCAB4A_ENST00000528542.2_Missense_Mutation_p.R27G|AP006621.8_ENST00000532946.1_RNA			Q8N4Y2	EFC4A_HUMAN		27					cellular protein localization (GO:0034613)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.R27G(1)		endometrium(1)|large_intestine(1)|lung(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCAGGGCCGCGGGCTGCAAT	0.652																																						uc001lrv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(79-81)CGG>GGG		RecName: Full=EF-hand calcium-binding domain-containing protein 4A;							68.0	79.0	76.0					11																	828686		2016	4169	6185	SO:0001583	missense	283229				store-operated calcium entry		calcium ion binding	g.chr11:828686C>G																												ENST00000525077.1:c.79C>G	11.37:g.828686C>G	ENSP00000435299:p.Arg27Gly					EFCAB4A_uc010qwt.1_Missense_Mutation_p.R27G|EFCAB4A_uc009ycm.1_Missense_Mutation_p.R27G|EFCAB4A_uc001lrw.2_5'Flank	p.R27G			Q8N4Y2	EFC4A_HUMAN		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	1	457	+		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)	27					D5LPR2|Q8NBW8	Missense_Mutation	SNP	ENST00000525077.1	37	c.79C>G		.	.	.	.	.	.	.	.	.	.	C	9.314	1.056331	0.19907	.	.	ENSG00000177685	ENST00000528315;ENST00000533803;ENST00000527089;ENST00000530183;ENST00000528542;ENST00000450448;ENST00000321883;ENST00000525077	T;T;T;T;T	0.30448	1.53;1.54;3.25;3.25;3.39	3.18	-3.65	0.04502	.	0.876796	0.09501	N	0.793547	T	0.15522	0.0374	L	0.29908	0.895	0.09310	N	1	B;B;B	0.16166	0.016;0.0;0.0	B;B;B	0.10450	0.005;0.004;0.0	T	0.26916	-1.0089	10	0.36615	T	0.2	.	0.3175	0.00298	0.333:0.2744:0.1642:0.2284	.	27;27;27	E7EWX3;Q8N4Y2-3;Q8N4Y2	.;.;EFC4A_HUMAN	G	27	ENSP00000433602:R27G;ENSP00000432726:R27G;ENSP00000432334:R27G;ENSP00000409256:R27G;ENSP00000435299:R27G	ENSP00000324024:R27G	R	+	1	2	EFCAB4A	818686	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.021000	0.12504	-0.808000	0.04387	0.313000	0.20887	CGG		PASS	0.652	EFCAB4A-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000383097.1			5	51	5	51	---	---	---	---
STK33	65975	broad.mit.edu	37	11	8435164	8435164	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr11:8435164C>G	ENST00000447869.1	-	11	2140	c.1222G>C	c.(1222-1224)Gtt>Ctt	p.V408L	STK33_ENST00000315204.1_Missense_Mutation_p.V408L|STK33_ENST00000358872.3_Missense_Mutation_p.V221L|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000396672.1_Missense_Mutation_p.V408L|STK33_ENST00000396673.1_Intron|STK33_ENST00000534493.1_Missense_Mutation_p.V367L			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	408					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V408L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TTTTCCTCAACACTTTCTGGG	0.378																																						uc001mgi.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1222-1224)GTT>CTT		serine/threonine kinase 33							256.0	226.0	236.0					11																	8435164		2201	4296	6497	SO:0001583	missense	65975					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8435164C>G	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.1222G>C	11.37:g.8435164C>G	ENSP00000416750:p.Val408Leu					STK33_uc001mgj.1_Missense_Mutation_p.V408L|STK33_uc001mgk.1_Missense_Mutation_p.V408L|STK33_uc010rbn.1_Missense_Mutation_p.V367L|STK33_uc001mgl.3_Missense_Mutation_p.V221L	p.V408L	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	11	2141	-			408					Q658S6|Q8NEF5	Missense_Mutation	SNP	ENST00000447869.1	37	c.1222G>C	CCDS7789.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181941	0.38511	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000534493	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.9	5.9	0.94986	Protein kinase-like domain (1);	0.383981	0.25732	N	0.028664	T	0.12561	0.0305	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.16012	-1.0417	10	0.27785	T	0.31	.	15.7822	0.78269	0.0:1.0:0.0:0.0	.	408	Q9BYT3	STK33_HUMAN	L	408;408;408;221;367	ENSP00000416750:V408L;ENSP00000320754:V408L;ENSP00000379905:V408L;ENSP00000351743:V221L;ENSP00000436418:V367L	ENSP00000320754:V408L	V	-	1	0	STK33	8391740	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	3.600000	0.54052	2.786000	0.95864	0.563000	0.77884	GTT		PASS	0.378	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		11	113	11	113	---	---	---	---
OR5L2	26338	broad.mit.edu	37	11	55594722	55594722	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr11:55594722G>T	ENST00000378397.1	+	1	28	c.28G>T	c.(28-30)Gct>Tct	p.A10S		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A10S(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CACCACTGTGGCTGAGTTCAT	0.413										HNSCC(27;0.073)																												uc001nhy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(28-30)GCT>TCT		olfactory receptor, family 5, subfamily L,							202.0	191.0	195.0					11																	55594722		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594722G>T	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.28G>T	11.37:g.55594722G>T	ENSP00000367650:p.Ala10Ser	HNSCC(27;0.073)					p.A10S	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	28	+		all_epithelial(135;0.208)	10			Extracellular (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.28G>T	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	6.885	0.532784	0.13127	.	.	ENSG00000205030	ENST00000378397	T	0.01092	5.35	5.31	-1.38	0.09027	.	0.567975	0.15884	N	0.239903	T	0.00496	0.0016	N	0.02334	-0.595	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.47573	-0.9107	10	0.56958	D	0.05	-0.6427	0.5754	0.00702	0.4138:0.1187:0.2187:0.2489	.	10	Q8NGL0	OR5L2_HUMAN	S	10	ENSP00000367650:A10S	ENSP00000367650:A10S	A	+	1	0	OR5L2	55351298	0.000000	0.05858	0.006000	0.13384	0.080000	0.17528	-0.228000	0.09114	-0.401000	0.07644	-1.258000	0.01471	GCT		PASS	0.413	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		16	153	16	153	---	---	---	---
OR5W2	390148	broad.mit.edu	37	11	55681406	55681406	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr11:55681406T>A	ENST00000344514.1	-	1	652	c.653A>T	c.(652-654)tAt>tTt	p.Y218F		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y218F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GATATAACAATAAGAAATGAA	0.398																																					Melanoma(48;171 1190 15239 43886 49348)	uc010rir.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(652-654)TAT>TTT		olfactory receptor, family 5, subfamily W,							56.0	62.0	60.0					11																	55681406		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681406T>A	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.653A>T	11.37:g.55681406T>A	ENSP00000342448:p.Tyr218Phe						p.Y218F	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			1	653	-			218			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000344514.1	37	c.653A>T	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	T	15.42	2.828886	0.50845	.	.	ENSG00000187612	ENST00000344514	T	0.00495	6.99	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36740	N	0.002432	T	0.03827	0.0108	H	0.98594	4.275	0.09310	N	0.999994	D	0.76494	0.999	D	0.83275	0.996	T	0.24764	-1.0151	10	0.87932	D	0	.	12.6626	0.56822	0.0:0.0:0.0:1.0	.	218	Q8NH69	OR5W2_HUMAN	F	218	ENSP00000342448:Y218F	ENSP00000342448:Y218F	Y	-	2	0	OR5W2	55437982	1.000000	0.71417	0.758000	0.31321	0.601000	0.36947	6.969000	0.76092	1.870000	0.54199	0.443000	0.29094	TAT		PASS	0.398	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		5	46	5	46	---	---	---	---
OR9Q2	219957	broad.mit.edu	37	11	57958868	57958868	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr11:57958868G>C	ENST00000311591.3	+	1	963	c.906G>C	c.(904-906)agG>agC	p.R302S		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R302S(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				AGGCCACTAGGAAAGCCCTGA	0.458																																						uc010rka.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(904-906)AGG>AGC		olfactory receptor, family 9, subfamily Q,							60.0	63.0	62.0					11																	57958868		2201	4296	6497	SO:0001583	missense	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958868G>C	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.906G>C	11.37:g.57958868G>C	ENSP00000308714:p.Arg302Ser						p.R302S	NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN			1	906	+		Breast(21;0.0589)	302			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000311591.3	37	c.906G>C	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.668812	0.29604	.	.	ENSG00000186513	ENST00000311591	T	0.39787	1.06	5.09	1.12	0.20585	.	1.894330	0.02518	N	0.092247	T	0.39009	0.1062	L	0.54908	1.71	0.09310	N	1	B	0.24823	0.112	B	0.19666	0.026	T	0.23297	-1.0192	10	0.56958	D	0.05	0.3604	4.4098	0.11427	0.211:0.0:0.5179:0.2711	.	302	Q8NGE9	OR9Q2_HUMAN	S	302	ENSP00000308714:R302S	ENSP00000308714:R302S	R	+	3	2	OR9Q2	57715444	0.899000	0.30636	0.087000	0.20705	0.121000	0.20230	1.154000	0.31688	0.116000	0.18110	0.655000	0.94253	AGG		PASS	0.458	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		8	36	8	36	---	---	---	---
VWCE	220001	broad.mit.edu	37	11	61026208	61026208	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr11:61026208G>T	ENST00000335613.5	-	20	3193	c.2807C>A	c.(2806-2808)aCc>aAc	p.T936N	VWCE_ENST00000535710.1_Missense_Mutation_p.T401N	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	936						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.T936N(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GCCAGGGTGGGTGGTGGCTGC	0.652																																						uc001nra.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2806-2808)ACC>AAC		von Willebrand factor C and EGF domains							41.0	48.0	46.0					11																	61026208		2197	4293	6490	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61026208G>T	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2807C>A	11.37:g.61026208G>T	ENSP00000334186:p.Thr936Asn					VWCE_uc001nrb.2_RNA	p.T936N	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN			20	3086	-			936					A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.2807C>A	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236803	0.22711	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.69040	-0.37;3.5	4.45	1.39	0.22231	.	1.301520	0.05698	N	0.593570	T	0.55970	0.1954	L	0.44542	1.39	0.09310	N	1	B	0.20671	0.047	B	0.12156	0.007	T	0.44544	-0.9321	10	0.56958	D	0.05	.	3.2137	0.06691	0.0986:0.1732:0.5493:0.1788	.	936	Q96DN2	VWCE_HUMAN	N	936;401	ENSP00000334186:T936N;ENSP00000442570:T401N	ENSP00000334186:T936N	T	-	2	0	VWCE	60782784	0.003000	0.15002	0.000000	0.03702	0.011000	0.07611	1.294000	0.33365	0.068000	0.16574	-0.258000	0.10820	ACC		PASS	0.652	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		9	51	9	51	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62297927	62297927	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr11:62297927G>A	ENST00000378024.4	-	5	4236	c.3962C>T	c.(3961-3963)cCc>cTc	p.P1321L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1321					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.P1321L(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGAGATCTTGGGGGCCTTGAA	0.517																																						uc001ntl.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(3961-3963)CCC>CTC		AHNAK nucleoprotein isoform 1							169.0	175.0	173.0					11																	62297927		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62297927G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3962C>T	11.37:g.62297927G>A	ENSP00000367263:p.Pro1321Leu					AHNAK_uc001ntk.1_Intron	p.P1321L	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	4262	-		Melanoma(852;0.155)	1321					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.3962C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	16.15	3.040765	0.55003	.	.	ENSG00000124942	ENST00000378024	T	0.04758	3.56	4.66	3.72	0.42706	.	0.348473	0.16727	U	0.202023	T	0.19846	0.0477	H	0.95151	3.63	0.50313	D	0.999863	B	0.33826	0.427	B	0.42245	0.381	T	0.01549	-1.1327	10	0.66056	D	0.02	.	12.2957	0.54844	0.0:0.0:0.8299:0.1701	.	1321	Q09666	AHNK_HUMAN	L	1321	ENSP00000367263:P1321L	ENSP00000367263:P1321L	P	-	2	0	AHNAK	62054503	1.000000	0.71417	0.975000	0.42487	0.910000	0.53928	2.389000	0.44407	1.057000	0.40506	0.645000	0.84053	CCC		PASS	0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		9	163	9	163	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62298339	62298339	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr11:62298339T>C	ENST00000378024.4	-	5	3824	c.3550A>G	c.(3550-3552)Aag>Gag	p.K1184E	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1184					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.K1184E(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAGGCATCTTAAACTTGGGA	0.522																																						uc001ntl.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(3550-3552)AAG>GAG		AHNAK nucleoprotein isoform 1							206.0	210.0	209.0					11																	62298339		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62298339T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3550A>G	11.37:g.62298339T>C	ENSP00000367263:p.Lys1184Glu					AHNAK_uc001ntk.1_Intron	p.K1184E	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	3850	-		Melanoma(852;0.155)	1184					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.3550A>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	t	13.36	2.213548	0.39102	.	.	ENSG00000124942	ENST00000378024	T	0.01228	5.14	4.99	4.99	0.66335	.	0.221857	0.28130	N	0.016482	T	0.09686	0.0238	M	0.89287	3.02	0.23851	N	0.996664	D	0.64830	0.994	D	0.70487	0.969	T	0.13602	-1.0503	10	0.31617	T	0.26	.	14.4147	0.67142	0.0:0.0:0.0:1.0	.	1184	Q09666	AHNK_HUMAN	E	1184	ENSP00000367263:K1184E	ENSP00000367263:K1184E	K	-	1	0	AHNAK	62054915	0.998000	0.40836	0.998000	0.56505	0.990000	0.78478	3.222000	0.51223	1.898000	0.54952	0.524000	0.50904	AAG		PASS	0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		13	181	13	181	---	---	---	---
CCDC87	55231	broad.mit.edu	37	11	66358540	66358540	+	Silent	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr11:66358540C>A	ENST00000333861.3	-	1	2014	c.1947G>T	c.(1945-1947)gtG>gtT	p.V649V	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	649					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)			p.V649V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ACTCTCCTGGCACAAAGTCTG	0.542																																						uc001oiq.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1945-1947)GTG>GTT		coiled-coil domain containing 87							71.0	75.0	74.0					11																	66358540		2200	4295	6495	SO:0001819	synonymous_variant	55231							g.chr11:66358540C>A	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1947G>T	11.37:g.66358540C>A						CCS_uc001oir.2_5'Flank	p.V649V	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN			1	2015	-			649					Q8NE76	Silent	SNP	ENST00000333861.3	37	c.1947G>T	CCDS8145.1																																																																																				PASS	0.542	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		5	56	5	56	---	---	---	---
KRTAP5-10	387273	broad.mit.edu	37	11	71276767	71276767	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr11:71276767C>T	ENST00000398531.1	+	1	159	c.134C>T	c.(133-135)cCc>cTc	p.P45L	KRTAP5-10_ENST00000376536.4_Missense_Mutation_p.P45L	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	45						keratin filament (GO:0045095)		p.P45L(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						TGCTGTGTGCCCGTCTGCTGC	0.687																																						uc001oqt.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(133-135)CCC>CTC		keratin associated protein 5-10							50.0	66.0	61.0					11																	71276767		2189	4284	6473	SO:0001583	missense	387273					keratin filament		g.chr11:71276767C>T	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.134C>T	11.37:g.71276767C>T	ENSP00000381542:p.Pro45Leu						p.P45L	NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN			1	159	+			45					B9EHA4	Missense_Mutation	SNP	ENST00000398531.1	37	c.134C>T	CCDS41684.1	.	.	.	.	.	.	.	.	.	.	c	10.51	1.369465	0.24771	.	.	ENSG00000204572	ENST00000398531;ENST00000376536	T;T	0.01505	4.82;4.94	1.34	1.34	0.21922	.	.	.	.	.	T	0.03477	0.0100	M	0.85777	2.775	0.09310	N	0.999995	B	0.11235	0.004	B	0.10450	0.005	T	0.33929	-0.9849	9	0.72032	D	0.01	.	3.6994	0.08376	0.0:0.7565:0.0:0.2435	.	45	Q6L8G5	KR510_HUMAN	L	45	ENSP00000381542:P45L;ENSP00000365719:P45L	ENSP00000365719:P45L	P	+	2	0	KRTAP5-10	70954415	0.002000	0.14202	0.986000	0.45419	0.979000	0.70002	0.676000	0.25247	1.092000	0.41356	0.405000	0.27470	CCC		PASS	0.687	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			12	72	12	72	---	---	---	---
CCDC83	220047	broad.mit.edu	37	11	85610060	85610060	+	Splice_Site	SNP	T	T	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr11:85610060T>C	ENST00000342404.3	+	7	888		c.e7+2		CCDC83_ENST00000529676.2_Splice_Site|CCDC83_ENST00000376067.1_Splice_Site|CCDC83_ENST00000280245.4_Splice_Site			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83									p.?(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AAAAAAGAGGTAAGTGGAATT	0.348																																						uc001pbh.1																			1	Unknown(1)		lung(1)	skin(1)	1						c.e7+2		coiled-coil domain containing 83							91.0	90.0	90.0					11																	85610060		2203	4299	6502	SO:0001630	splice_region_variant	220047							g.chr11:85610060T>C	AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.672+2T>C	11.37:g.85610060T>C						CCDC83_uc001pbg.1_Splice_Site_p.E224_splice|CCDC83_uc001pbi.1_Splice_Site|CCDC83_uc001pbj.1_Splice_Site_p.E125_splice	p.E224_splice	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN			7	1184	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)						B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Splice_Site	SNP	ENST00000342404.3	37	c.672_splice		.	.	.	.	.	.	.	.	.	.	T	16.68	3.190994	0.58017	.	.	ENSG00000150676	ENST00000280245;ENST00000376067;ENST00000342404;ENST00000526729	.	.	.	5.35	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0109	0.30353	0.0:0.0902:0.0:0.9098	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC83	85287708	1.000000	0.71417	0.982000	0.44146	0.929000	0.56500	3.910000	0.56371	1.161000	0.42604	-0.250000	0.11733	.		PASS	0.348	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556	Intron	5	52	5	52	---	---	---	---
MMP13	4322	broad.mit.edu	37	11	102822866	102822866	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr11:102822866C>A	ENST00000260302.3	-	5	702	c.674G>T	c.(673-675)gGc>gTc	p.G225V	MMP13_ENST00000340273.4_Missense_Mutation_p.G225V	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	225	Interaction with TIMP2.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G225F(1)|p.G225V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	TAAGGAGTGGCCGAACTCATG	0.443																																						uc001phl.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(673-675)GGC>GTC		matrix metalloproteinase 13 preproprotein							178.0	167.0	171.0					11																	102822866		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102822866C>A	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.674G>T	11.37:g.102822866C>A	ENSP00000260302:p.Gly225Val						p.G225V	NM_002427	NP_002418	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	5	702	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	225					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.674G>T	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.049141	0.93740	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	D;D	0.90385	-2.66;-2.66	5.75	5.75	0.90469	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98134	0.9384	H	0.99900	4.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99047	1.0826	10	0.87932	D	0	.	20.312	0.98644	0.0:1.0:0.0:0.0	.	225	P45452	MMP13_HUMAN	V	225	ENSP00000260302:G225V;ENSP00000339672:G225V	ENSP00000260302:G225V	G	-	2	0	MMP13	102328076	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.772000	0.85439	2.866000	0.98385	0.650000	0.86243	GGC		PASS	0.443	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		10	112	10	112	---	---	---	---
VPS11	55823	broad.mit.edu	37	11	118939986	118939986	+	Silent	SNP	C	C	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr11:118939986C>T	ENST00000300793.6	+	3	307	c.265C>T	c.(265-267)Ctg>Ttg	p.L89L	RP11-110I1.13_ENST00000607709.1_RNA|VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	90					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.L89L(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GGTGACACACCTGTACCAACT	0.512																																						uc010ryx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(268-270)CTG>TTG		vacuolar protein sorting 11							100.0	96.0	97.0					11																	118939986		1924	4129	6053	SO:0001819	synonymous_variant	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118939986C>T	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.265C>T	11.37:g.118939986C>T						VPS11_uc010ryy.1_5'UTR	p.L90L	NM_021729	NP_068375	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	3	310	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	90					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Silent	SNP	ENST00000300793.6	37	c.268C>T																																																																																					PASS	0.512	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		8	71	8	71	---	---	---	---
OR10G7	390265	broad.mit.edu	37	11	123909270	123909270	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr11:123909270T>A	ENST00000330487.5	-	1	447	c.439A>T	c.(439-441)Act>Tct	p.T147S		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T147S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTGAGCCAAGTGCCGGTGGCC	0.557																																						uc001pzq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(439-441)ACT>TCT		olfactory receptor, family 10, subfamily G,							159.0	152.0	155.0					11																	123909270		2200	4299	6499	SO:0001583	missense	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909270T>A	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.439A>T	11.37:g.123909270T>A	ENSP00000329689:p.Thr147Ser						p.T147S	NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	439	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	147			Helical; Name=4; (Potential).		Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	c.439A>T	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	T	10.88	1.475200	0.26511	.	.	ENSG00000182634	ENST00000330487	T	0.35789	1.29	3.24	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.139056	0.33075	N	0.005314	T	0.24044	0.0582	N	0.04116	-0.275	0.23089	N	0.998319	D	0.89917	1.0	D	0.91635	0.999	T	0.44298	-0.9337	10	0.07030	T	0.85	.	0.9411	0.01355	0.1932:0.113:0.2002:0.4937	.	147	Q8NGN6	O10G7_HUMAN	S	147	ENSP00000329689:T147S	ENSP00000329689:T147S	T	-	1	0	OR10G7	123414480	0.000000	0.05858	0.582000	0.28627	0.587000	0.36485	0.456000	0.21859	1.490000	0.48466	0.374000	0.22700	ACT		PASS	0.557	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		9	158	9	158	---	---	---	---
CCDC15	80071	broad.mit.edu	37	11	124857428	124857428	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr11:124857428A>G	ENST00000344762.5	+	8	1565	c.1306A>G	c.(1306-1308)Aaa>Gaa	p.K436E	CCDC15_ENST00000529051.1_Missense_Mutation_p.K436E	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	436						centrosome (GO:0005813)		p.K436E(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		TGTTCTCCCTAAAGACCAGAG	0.423																																						uc001qbm.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1306-1308)AAA>GAA		coiled-coil domain containing 15							89.0	86.0	87.0					11																	124857428		1859	4105	5964	SO:0001583	missense	80071					centrosome		g.chr11:124857428A>G	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1306A>G	11.37:g.124857428A>G	ENSP00000341684:p.Lys436Glu						p.K436E	NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1565	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	436					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.1306A>G	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.553870	0.45487	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.37411	1.2;1.21	3.12	0.78	0.18556	.	.	.	.	.	T	0.51686	0.1689	M	0.65498	2.005	0.09310	N	1	D	0.71674	0.998	D	0.80764	0.994	T	0.33189	-0.9878	9	0.66056	D	0.02	-1.8972	6.0329	0.19690	0.7589:0.0:0.2411:0.0	.	436	Q0P6D6	CCD15_HUMAN	E	436	ENSP00000435403:K436E;ENSP00000341684:K436E	ENSP00000341684:K436E	K	+	1	0	CCDC15	124362638	0.000000	0.05858	0.002000	0.10522	0.659000	0.38960	1.060000	0.30530	0.149000	0.19098	0.460000	0.39030	AAA		PASS	0.423	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		8	66	8	66	---	---	---	---
KCNJ5	3762	broad.mit.edu	37	11	128781411	128781411	+	Silent	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr11:128781411G>T	ENST00000338350.4	+	3	595	c.243G>T	c.(241-243)ctG>ctT	p.L81L	KCNJ5_ENST00000533599.1_Silent_p.L81L|KCNJ5_ENST00000529694.1_Silent_p.L81L			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	81					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.L81L(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	TCACCACCCTGGTGGACCTCA	0.552																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	uc001qet.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(241-243)CTG>CTT		potassium inwardly-rectifying channel J5	Glibenclamide(DB01016)						145.0	121.0	129.0					11																	128781411		2201	4297	6498	SO:0001819	synonymous_variant	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781411G>T	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.243G>T	11.37:g.128781411G>T						KCNJ5_uc009zck.2_Silent_p.L81L|KCNJ5_uc001qew.2_Silent_p.L81L	p.L81L	NM_000890	NP_000881	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	557	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	81			Cytoplasmic (By similarity).		B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	ENST00000338350.4	37	c.243G>T	CCDS8479.1																																																																																				PASS	0.552	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		8	84	8	84	---	---	---	---
NTM	50863	broad.mit.edu	37	11	131781454	131781454	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr11:131781454A>G	ENST00000374786.1	+	1	558	c.79A>G	c.(79-81)Aca>Gca	p.T27A	NTM_ENST00000374791.3_Intron|NTM_ENST00000539799.1_Intron|NTM_ENST00000374784.1_Missense_Mutation_p.T27A|NTM_ENST00000427481.2_Intron|NTM_ENST00000425719.2_Missense_Mutation_p.T27A	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	27					cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.T27A(1)|p.?(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CCTTGTACCCACAGGAGTGCC	0.627											OREG0021537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qgp.2																			2	Substitution - Missense(1)|Unknown(1)		lung(2)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(79-81)ACA>GCA		neurotrimin isoform 1							91.0	86.0	88.0					11																	131781454		2200	4275	6475	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:131781454A>G	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.79A>G	11.37:g.131781454A>G	ENSP00000363918:p.Thr27Ala		OREG0021537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1590	NTM_uc001qgm.2_Intron|NTM_uc010sch.1_Intron|NTM_uc010sci.1_Intron|NTM_uc010scj.1_Intron|NTM_uc001qgo.2_Missense_Mutation_p.T27A|NTM_uc001qgq.2_Missense_Mutation_p.T27A	p.T27A	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			1	743	+			27					A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.79A>G	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.367421	0.24771	.	.	ENSG00000182667	ENST00000374786;ENST00000425719;ENST00000374784	T;T;T	0.58652	0.39;0.34;0.32	5.28	4.16	0.48862	.	.	.	.	.	T	0.20251	0.0487	N	0.00926	-1.1	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.23048	-1.0199	9	0.07325	T	0.83	2.4336	4.3663	0.11227	0.7046:0.0:0.2954:0.0	.	27;27;27	Q9P121-4;Q9P121;Q9P121-3	.;NTRI_HUMAN;.	A	27	ENSP00000363918:T27A;ENSP00000396722:T27A;ENSP00000363916:T27A	ENSP00000363916:T27A	T	+	1	0	NTM	131286664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.904000	0.75708	2.005000	0.58758	0.459000	0.35465	ACA		PASS	0.627	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		5	45	5	45	---	---	---	---
PLBD1	79887	broad.mit.edu	37	12	14689564	14689564	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr12:14689564T>A	ENST00000240617.5	-	5	1291	c.639A>T	c.(637-639)aaA>aaT	p.K213N		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	213					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.K213N(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						GGCTGCCGTTTTTTGTGGGAG	0.448																																						uc001rcc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(637-639)AAA>AAT		phospholipase B domain containing 1							134.0	123.0	127.0					12																	14689564		2203	4300	6503	SO:0001583	missense	79887				lipid catabolic process	extracellular region	hydrolase activity	g.chr12:14689564T>A	BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"""PLB homolog 1 (Dictyostelium)"""					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.639A>T	12.37:g.14689564T>A	ENSP00000240617:p.Lys213Asn						p.K213N	NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN			5	800	-			213					A8K4E9|Q9BVV3|Q9H625	Missense_Mutation	SNP	ENST00000240617.5	37	c.639A>T	CCDS31751.1	.	.	.	.	.	.	.	.	.	.	T	3.075	-0.190301	0.06299	.	.	ENSG00000121316	ENST00000240617	T	0.18657	2.2	5.63	0.554	0.17241	.	0.644721	0.16673	N	0.204297	T	0.11196	0.0273	L	0.28192	0.835	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.30621	-0.9972	10	0.19147	T	0.46	-2.3489	5.3517	0.16040	0.0:0.255:0.1559:0.5891	.	213	Q6P4A8	PLBL1_HUMAN	N	213	ENSP00000240617:K213N	ENSP00000240617:K213N	K	-	3	2	PLBD1	14580831	0.000000	0.05858	0.020000	0.16555	0.066000	0.16364	-0.218000	0.09240	0.439000	0.26476	0.482000	0.46254	AAA		PASS	0.448	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401203.1	NM_024829		12	76	12	76	---	---	---	---
C2CD5	9847	broad.mit.edu	37	12	22678621	22678621	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr12:22678621T>C	ENST00000333957.4	-	5	623	c.368A>G	c.(367-369)aAt>aGt	p.N123S	C2CD5_ENST00000540703.1_5'UTR|C2CD5_ENST00000396028.2_Missense_Mutation_p.N123S|C2CD5_ENST00000545552.1_Missense_Mutation_p.N123S|C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000446597.1_Missense_Mutation_p.N123S|C2CD5_ENST00000542676.1_Missense_Mutation_p.N123S|C2CD5_ENST00000536386.1_Missense_Mutation_p.N123S	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	123					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.N123S(1)									GACAACTACATTGATTTCCCC	0.284																																						uc001rfq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(367-369)AAT>AGT		hypothetical protein LOC9847							146.0	164.0	158.0					12																	22678621		2203	4298	6501	SO:0001583	missense	9847						protein binding	g.chr12:22678621T>C	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.368A>G	12.37:g.22678621T>C	ENSP00000334229:p.Asn123Ser					KIAA0528_uc010sir.1_5'UTR|KIAA0528_uc010sis.1_Missense_Mutation_p.N123S|KIAA0528_uc010sit.1_Missense_Mutation_p.N123S|KIAA0528_uc010siu.1_Missense_Mutation_p.N123S|KIAA0528_uc001rfr.2_Missense_Mutation_p.N123S|KIAA0528_uc009ziy.1_Missense_Mutation_p.N123S	p.N123S	NM_014802	NP_055617	Q86YS7	K0528_HUMAN			5	596	-			123					B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.368A>G	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	T	15.09	2.730750	0.48939	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552	T;T;T;T;T;T	0.74947	-0.89;-0.89;-0.12;-0.11;-0.89;-0.11	5.76	5.76	0.90799	C2 calcium/lipid-binding domain, CaLB (1);	0.097898	0.64402	D	0.000002	T	0.57519	0.2059	N	0.16790	0.44	0.80722	D	1	B;B;B;B;B	0.18741	0.03;0.002;0.004;0.022;0.001	B;B;B;B;B	0.14023	0.008;0.004;0.002;0.01;0.002	T	0.54470	-0.8289	10	0.30854	T	0.27	-27.4662	10.4275	0.44387	0.0:0.0726:0.0:0.9274	.	123;123;123;123;123	F5H2A1;B4DRN7;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;K0528_HUMAN	S	123	ENSP00000334229:N123S;ENSP00000388756:N123S;ENSP00000439392:N123S;ENSP00000379345:N123S;ENSP00000441951:N123S;ENSP00000443204:N123S	ENSP00000334229:N123S	N	-	2	0	KIAA0528	22569888	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.056000	0.64287	2.199000	0.70637	0.477000	0.44152	AAT		PASS	0.284	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		14	134	14	134	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40748141	40748141	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr12:40748141A>G	ENST00000298910.7	+	45	6675	c.6617A>G	c.(6616-6618)cAt>cGt	p.H2206R		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2206					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.H2206R(1)|p.H2213R(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)				GCCTTGGTGCATCTTCCTGTT	0.393																																						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.(6616-6618)CAT>CGT		leucine-rich repeat kinase 2							113.0	104.0	107.0					12																	40748141		2203	4300	6503	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.chr12:40748141A>G	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.6617A>G	12.37:g.40748141A>G	ENSP00000298910:p.His2206Arg					LRRK2_uc009zjw.2_Missense_Mutation_p.H1044R|LRRK2_uc001rmi.2_Missense_Mutation_p.H1039R	p.H2206R	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			45	6738	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2206					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.6617A>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	7.586	0.669738	0.14776	.	.	ENSG00000188906	ENST00000298910	T	0.70399	-0.48	5.95	2.23	0.28157	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.027030	0.07634	N	0.929129	T	0.54631	0.1870	N	0.25647	0.755	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35674	-0.9779	10	0.16896	T	0.51	.	7.2223	0.25994	0.484:0.373:0.1431:0.0	.	2206;2206	Q17RV3;Q5S007	.;LRRK2_HUMAN	R	2206	ENSP00000298910:H2206R	ENSP00000298910:H2206R	H	+	2	0	LRRK2	39034408	0.000000	0.05858	0.402000	0.26371	0.981000	0.71138	0.869000	0.27996	0.488000	0.27723	0.477000	0.44152	CAT		PASS	0.393	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		9	48	9	48	---	---	---	---
NELL2	4753	broad.mit.edu	37	12	45168619	45168619	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr12:45168619T>C	ENST00000429094.2	-	9	1409	c.905A>G	c.(904-906)cAg>cGg	p.Q302R	NELL2_ENST00000437801.2_Missense_Mutation_p.Q352R|NELL2_ENST00000395487.2_Missense_Mutation_p.Q301R|NELL2_ENST00000549027.1_Missense_Mutation_p.Q301R|NELL2_ENST00000452445.2_Missense_Mutation_p.Q302R|NELL2_ENST00000551601.1_Missense_Mutation_p.Q301R|NELL2_ENST00000333837.4_Missense_Mutation_p.Q325R	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	302	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.Q352R(1)|p.Q302R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		AGTTTCACACTGGATGGTTCC	0.358											OREG0021741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rog.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(904-906)CAG>CGG		NEL-like protein 2 isoform b precursor							130.0	122.0	125.0					12																	45168619		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45168619T>C	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.905A>G	12.37:g.45168619T>C	ENSP00000390680:p.Gln302Arg		OREG0021741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	929	NELL2_uc001rof.3_Missense_Mutation_p.Q301R|NELL2_uc001roh.2_Missense_Mutation_p.Q302R|NELL2_uc009zkd.2_Missense_Mutation_p.Q301R|NELL2_uc010skz.1_Missense_Mutation_p.Q352R|NELL2_uc010sla.1_Missense_Mutation_p.Q325R|NELL2_uc001roi.1_Missense_Mutation_p.Q302R|NELL2_uc010slb.1_Missense_Mutation_p.Q301R|NELL2_uc001roj.2_Missense_Mutation_p.Q302R	p.Q302R	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	9	1500	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	302			VWFC 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.905A>G	CCDS8746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.37|14.37	2.514685|2.514685	0.44763|0.44763	.|.	.|.	ENSG00000184613|ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000550462;ENST00000552993|ENST00000550313	T;T;T;T;T;T;T;T;T|.	0.72167|.	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63|.	5.06|5.06	5.06|5.06	0.68205|0.68205	von Willebrand factor, type C (4);|.	0.122570|.	0.56097|.	D|.	0.000026|.	T|T	0.53578|0.53578	0.1805|0.1805	L|L	0.28054|0.28054	0.825|0.825	0.58432|0.58432	D|D	0.999994|0.999994	D;B;B;P;B;B|.	0.64830|.	0.994;0.055;0.035;0.818;0.016;0.02|.	D;B;B;B;B;B|.	0.76575|.	0.988;0.082;0.041;0.355;0.04;0.049|.	T|T	0.50775|0.50775	-0.8788|-0.8788	10|5	0.07482|.	T|.	0.82|.	-13.4599|-13.4599	15.1083|15.1083	0.72336|0.72336	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	325;352;301;302;302;301|.	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2|.	.;.;.;.;NELL2_HUMAN;.|.	R|G	301;302;301;302;301;325;352;301;75;302|51	ENSP00000378866:Q301R;ENSP00000390680:Q302R;ENSP00000449332:Q301R;ENSP00000394612:Q302R;ENSP00000447927:Q301R;ENSP00000327988:Q325R;ENSP00000416341:Q352R;ENSP00000450102:Q75R;ENSP00000447085:Q302R|.	ENSP00000327988:Q325R|.	Q|S	-|-	2|1	0|0	NELL2|NELL2	43454886|43454886	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.576000|0.576000	0.36127|0.36127	7.196000|7.196000	0.77805|0.77805	2.037000|2.037000	0.60232|0.60232	0.528000|0.528000	0.53228|0.53228	CAG|AGT		PASS	0.358	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		4	34	4	34	---	---	---	---
PDE1B	5153	broad.mit.edu	37	12	54966472	54966472	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr12:54966472G>T	ENST00000243052.3	+	7	1118	c.682G>T	c.(682-684)Gca>Tca	p.A228S	PDE1B_ENST00000550620.1_Missense_Mutation_p.A208S|PDE1B_ENST00000538346.1_Missense_Mutation_p.A187S|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	228	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.A228S(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CCAGATCCACGCAGCCGATGT	0.512																																						uc001sgd.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(682-684)GCA>TCA		phosphodiesterase 1B isoform 1							342.0	322.0	328.0					12																	54966472		2203	4300	6503	SO:0001583	missense	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54966472G>T	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.682G>T	12.37:g.54966472G>T	ENSP00000243052:p.Ala228Ser					PDE1B_uc010soz.1_Missense_Mutation_p.A91S|PDE1B_uc010spa.1_Missense_Mutation_p.A187S|PDE1B_uc001sgf.2_Missense_Mutation_p.A91S|PDE1B_uc001sge.2_Missense_Mutation_p.A208S|PDE1B_uc009znq.2_Missense_Mutation_p.A24S	p.A228S	NM_000924	NP_000915	Q01064	PDE1B_HUMAN			7	848	+			228			Catalytic (By similarity).		Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.682G>T	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637153	0.67130	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	D;D;D	0.86865	-2.18;-2.18;-2.18	4.84	4.84	0.62591	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.058199	0.64402	D	0.000003	D	0.94660	0.8278	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.992;0.999	D	0.95466	0.8547	10	0.87932	D	0	.	15.8399	0.78837	0.0:0.0:1.0:0.0	.	208;228	Q01064-2;Q01064	.;PDE1B_HUMAN	S	228;187;208	ENSP00000243052:A228S;ENSP00000442559:A187S;ENSP00000448519:A208S	ENSP00000243052:A228S	A	+	1	0	PDE1B	53252739	1.000000	0.71417	0.266000	0.24541	0.121000	0.20230	9.486000	0.97944	2.680000	0.91292	0.655000	0.94253	GCA		PASS	0.512	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			22	274	22	274	---	---	---	---
GRIP1	23426	broad.mit.edu	37	12	66765701	66765701	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr12:66765701T>C	ENST00000398016.3	-	22	2697	c.2629A>G	c.(2629-2631)Atc>Gtc	p.I877V	GRIP1_ENST00000286445.7_Missense_Mutation_p.I914V|GRIP1_ENST00000359742.4_Missense_Mutation_p.I929V	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.I877V(1)		NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CCCGACATGATTGTTGCCTGT	0.517																																						uc001stk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2629-2631)ATC>GTC		glutamate receptor interacting protein 1							44.0	47.0	46.0					12																	66765701		1998	4175	6173	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66765701T>C	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2629A>G	12.37:g.66765701T>C	ENSP00000381098:p.Ile877Val					GRIP1_uc010sta.1_Missense_Mutation_p.I821V|GRIP1_uc001stj.2_Missense_Mutation_p.I644V|GRIP1_uc001stl.1_Missense_Mutation_p.I754V|GRIP1_uc001stm.2_Missense_Mutation_p.I862V	p.I877V	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	22	2870	-			929					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.2629A>G	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	T	16.30	3.084255	0.55861	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	6.07	6.07	0.98685	.	0.046010	0.85682	D	0.000000	T	0.79393	0.4438	M	0.73962	2.25	0.58432	D	0.999995	B;B;B;B	0.34399	0.013;0.212;0.452;0.063	B;B;B;B	0.36567	0.061;0.079;0.228;0.034	T	0.77675	-0.2499	9	.	.	.	-20.4683	16.6407	0.85098	0.0:0.0:0.0:1.0	.	862;929;877;914	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.;GRIP1_HUMAN;.;.	V	877;929;914;862;821;754	ENSP00000381098:I877V;ENSP00000352780:I929V;ENSP00000286445:I914V;ENSP00000446047:I862V;ENSP00000446024:I821V;ENSP00000446011:I754V	.	I	-	1	0	GRIP1	65051968	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.573000	0.82421	2.326000	0.78906	0.533000	0.62120	ATC		PASS	0.517	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			4	46	4	46	---	---	---	---
KCNC2	3747	broad.mit.edu	37	12	75444382	75444382	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr12:75444382G>A	ENST00000549446.1	-	3	2083	c.1403C>T	c.(1402-1404)cCa>cTa	p.P468L	KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000298972.1_Missense_Mutation_p.P468L|KCNC2_ENST00000548513.1_Missense_Mutation_p.P468L|KCNC2_ENST00000350228.2_Missense_Mutation_p.P468L|KCNC2_ENST00000540018.1_Missense_Mutation_p.P468L|KCNC2_ENST00000393288.2_Missense_Mutation_p.P468L|KCNC2_ENST00000341669.3_Missense_Mutation_p.P468L|KCNC2_ENST00000550433.1_Missense_Mutation_p.P468L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	468					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.P468L(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	GACAGGCACTGGCATGGCTAT	0.498																																						uc001sxg.1																			2	Substitution - Missense(2)		lung(2)	breast(2)|pancreas(2)|skin(1)|lung(1)	6						c.(1402-1404)CCA>CTA		Shaw-related voltage-gated potassium channel							84.0	80.0	81.0					12																	75444382		2203	4300	6503	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75444382G>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1403C>T	12.37:g.75444382G>A	ENSP00000449253:p.Pro468Leu					KCNC2_uc009zry.2_Missense_Mutation_p.P468L|KCNC2_uc001sxe.2_Missense_Mutation_p.P468L|KCNC2_uc001sxf.2_Missense_Mutation_p.P468L|KCNC2_uc010stw.1_Missense_Mutation_p.P468L	p.P468L	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			3	1947	-			468			Helical; Name=Segment S6; (Potential).		B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.1403C>T	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449019	0.84101	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.97959	-4.63;-4.63;-4.63;-4.63;-4.63;-4.63;-4.63;-4.63	6.06	6.06	0.98353	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.98953	0.9644	M	0.86420	2.815	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.997	D	0.99406	1.0929	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	468;468;468;468;468	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	L	468	ENSP00000448301:P468L;ENSP00000449941:P468L;ENSP00000449253:P468L;ENSP00000340121:P468L;ENSP00000298972:P468L;ENSP00000319877:P468L;ENSP00000438423:P468L;ENSP00000376966:P468L	ENSP00000298972:P468L	P	-	2	0	KCNC2	73730649	1.000000	0.71417	0.972000	0.41901	0.987000	0.75469	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	CCA		PASS	0.498	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		4	40	4	40	---	---	---	---
PLXNC1	10154	broad.mit.edu	37	12	94641745	94641745	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr12:94641745C>G	ENST00000258526.4	+	13	2704	c.2455C>G	c.(2455-2457)Cgc>Ggc	p.R819G		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	819					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.R819C(2)|p.R819G(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTCAAAAGTGCGCACGAATGT	0.463																																						uc001tdc.2																			3	Substitution - Missense(3)		large_intestine(2)|lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2455-2457)CGC>GGC		plexin C1 precursor							111.0	112.0	111.0					12																	94641745		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94641745C>G	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.2455C>G	12.37:g.94641745C>G	ENSP00000258526:p.Arg819Gly						p.R819G	NM_005761	NP_005752	O60486	PLXC1_HUMAN			13	2704	+			819			Extracellular (Potential).		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.2455C>G	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	4.036	0.004282	0.07866	.	.	ENSG00000136040	ENST00000258526	T	0.76709	-1.04	6.16	5.23	0.72850	Cell surface receptor IPT/TIG (2);	0.603397	0.18399	N	0.142409	T	0.59810	0.2221	N	0.11560	0.145	0.38154	D	0.938836	B	0.02656	0.0	B	0.09377	0.004	T	0.56341	-0.7995	10	0.21540	T	0.41	.	13.2798	0.60208	0.0:0.7679:0.2321:0.0	.	819	O60486	PLXC1_HUMAN	G	819	ENSP00000258526:R819G	ENSP00000258526:R819G	R	+	1	0	PLXNC1	93165876	0.000000	0.05858	0.010000	0.14722	0.131000	0.20780	0.649000	0.24843	2.937000	0.99478	0.650000	0.86243	CGC		PASS	0.463	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			5	79	5	79	---	---	---	---
MTMR6	9107	broad.mit.edu	37	13	25823431	25823431	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr13:25823431A>G	ENST00000381801.5	-	14	2566	c.1805T>C	c.(1804-1806)tTt>tCt	p.F602S	MTMR6_ENST00000540661.1_Intron|AL590787.1_ENST00000408397.1_RNA	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	602					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.F602S(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TGATTTAGAAAACTCTTCTGC	0.413																																						uc001uqf.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1804-1806)TTT>TCT		myotubularin related protein 6							101.0	101.0	101.0					13																	25823431		2203	4300	6503	SO:0001583	missense	9107					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr13:25823431A>G	AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.1805T>C	13.37:g.25823431A>G	ENSP00000371221:p.Phe602Ser					MTMR6_uc001uqe.1_Intron	p.F602S	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)	14	2124	-		Lung SC(185;0.0225)|Breast(139;0.0351)	602					B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	c.1805T>C	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.754362	0.49362	.	.	ENSG00000139505	ENST00000381801;ENST00000319298	D	0.94758	-3.51	5.89	4.7	0.59300	.	0.646968	0.16683	N	0.203878	D	0.90120	0.6913	L	0.27053	0.805	0.80722	D	1	B	0.13594	0.008	B	0.11329	0.006	D	0.85512	0.1198	10	0.72032	D	0.01	.	12.5121	0.56011	0.8749:0.0:0.0:0.1251	.	602	Q9Y217	MTMR6_HUMAN	S	602;170	ENSP00000371221:F602S	ENSP00000317987:F170S	F	-	2	0	MTMR6	24721431	1.000000	0.71417	0.915000	0.36163	0.966000	0.64601	6.658000	0.74407	1.032000	0.39892	0.533000	0.62120	TTT		PASS	0.413	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685		4	66	4	66	---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109644761	109644761	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr13:109644761G>T	ENST00000357550.2	+	20	2382	c.2341G>T	c.(2341-2343)Ggt>Tgt	p.G781C	MYO16_ENST00000457511.2_Missense_Mutation_p.G293C|MYO16_ENST00000251041.5_Missense_Mutation_p.G781C|MYO16_ENST00000356711.2_Missense_Mutation_p.G781C	NM_001198950.1	NP_001185879.1			myosin XVI									p.G781C(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GGACATTTTTGGTTTTGAAGA	0.313																																						uc001vqt.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(2341-2343)GGT>TGT		myosin heavy chain Myr 8							159.0	150.0	153.0					13																	109644761		2201	4298	6499	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109644761G>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.2341G>T	13.37:g.109644761G>T	ENSP00000350160:p.Gly781Cys					MYO16_uc010agk.1_Missense_Mutation_p.G803C|MYO16_uc001vqu.1_Missense_Mutation_p.G581C|MYO16_uc010tjh.1_Missense_Mutation_p.G293C	p.G781C	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		21	2467	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		781			Myosin head-like 1.			Missense_Mutation	SNP	ENST00000357550.2	37	c.2341G>T	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.890567	0.72524	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.99741	-6.6;-6.6;-6.6;-6.6	5.12	5.12	0.69794	Myosin head, motor domain (3);	0.000000	0.41194	U	0.000929	D	0.99866	0.9937	H	0.99299	4.505	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96347	0.9255	9	.	.	.	.	15.7427	0.77914	0.0:0.0:1.0:0.0	.	293;781;781	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	C	781;781;781;781;569;293	ENSP00000349145:G781C;ENSP00000350160:G781C;ENSP00000251041:G781C;ENSP00000401633:G293C	.	G	+	1	0	MYO16	108442762	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.353000	0.73032	2.379000	0.81126	0.563000	0.77884	GGT		PASS	0.313	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		11	43	11	43	---	---	---	---
OR4K1	79544	broad.mit.edu	37	14	20403871	20403871	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr14:20403871G>C	ENST00000285600.4	+	1	105	c.46G>C	c.(46-48)Gga>Cga	p.G16R		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G16R(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGTACTTTTGGGACTCTCTAA	0.343																																						uc001vwj.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(46-48)GGA>CGA		olfactory receptor, family 4, subfamily K,							354.0	399.0	383.0					14																	20403871		2203	4300	6503	SO:0001583	missense	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20403871G>C		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.46G>C	14.37:g.20403871G>C	ENSP00000285600:p.Gly16Arg						p.G16R	NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	46	+	all_cancers(95;0.00108)		16			Extracellular (Potential).		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.46G>C	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	12.37	1.917800	0.33815	.	.	ENSG00000155249	ENST00000285600	T	0.00659	5.94	4.77	4.77	0.60923	.	0.000000	0.49916	D	0.000138	T	0.05318	0.0141	M	0.91717	3.235	0.29481	N	0.856375	D	0.67145	0.996	P	0.61003	0.882	T	0.00804	-1.1559	10	0.87932	D	0	.	15.3128	0.74048	0.0:0.0:1.0:0.0	.	16	Q8NGD4	OR4K1_HUMAN	R	16	ENSP00000285600:G16R	ENSP00000285600:G16R	G	+	1	0	OR4K1	19473711	1.000000	0.71417	1.000000	0.80357	0.347000	0.29111	5.107000	0.64603	2.483000	0.83821	0.561000	0.74099	GGA		PASS	0.343	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			20	211	20	211	---	---	---	---
PCK2	5106	broad.mit.edu	37	14	24573040	24573040	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr14:24573040C>T	ENST00000216780.4	+	10	2058	c.1790C>T	c.(1789-1791)tCc>tTc	p.S597F	NRL_ENST00000561028.1_Intron|PCK2_ENST00000558096.1_Missense_Mutation_p.S431F|PCK2_ENST00000561286.1_Missense_Mutation_p.S463F|PCK2_ENST00000559250.1_Intron|PCK2_ENST00000545054.2_Missense_Mutation_p.S463F	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	597					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)	p.S597F(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CAGCTGTTCTCCCTCCCCAAG	0.577																																						uc001wlt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1789-1791)TCC>TTC		mitochondrial phosphoenolpyruvate carboxykinase							95.0	92.0	93.0					14																	24573040		2203	4300	6503	SO:0001583	missense	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24573040C>T	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1790C>T	14.37:g.24573040C>T	ENSP00000216780:p.Ser597Phe					NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Intron|PCK2_uc010tnw.1_Missense_Mutation_p.S463F|PCK2_uc010tnx.1_Missense_Mutation_p.S463F|PCK2_uc001wlu.3_Missense_Mutation_p.S431F	p.S597F	NM_004563	NP_004554	Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	10	1922	+			597					O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	ENST00000216780.4	37	c.1790C>T	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329003	0.81690	.	.	ENSG00000100889	ENST00000216780;ENST00000545054	T;T	0.05025	3.51;3.51	5.45	5.45	0.79879	Phosphoenolpyruvate carboxykinase, C-terminal (1);	0.256765	0.38058	N	0.001837	T	0.25158	0.0611	M	0.88570	2.965	0.52501	D	0.999951	P;P	0.48834	0.916;0.707	P;P	0.53266	0.722;0.702	T	0.01961	-1.1239	10	0.87932	D	0	-10.0856	17.1454	0.86765	0.0:1.0:0.0:0.0	.	463;597	B4DW73;Q16822	.;PCKGM_HUMAN	F	597;463	ENSP00000216780:S597F;ENSP00000441826:S463F	ENSP00000216780:S597F	S	+	2	0	PCK2	23642880	0.874000	0.30092	0.957000	0.39632	0.968000	0.65278	1.988000	0.40697	2.732000	0.93576	0.591000	0.81541	TCC		PASS	0.577	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		8	50	8	50	---	---	---	---
POLE2	5427	broad.mit.edu	37	14	50130032	50130032	+	Splice_Site	SNP	C	C	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr14:50130032C>G	ENST00000216367.5	-	10	855		c.e10+1		POLE2_ENST00000556584.1_Splice_Site|POLE2_ENST00000554396.1_Splice_Site|POLE2_ENST00000539565.2_Splice_Site	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit						DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.?(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	CATTTTAATACCTAGTAGTAC	0.378																																						uc001wwu.2																			1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e10+1		DNA-directed DNA polymerase epsilon 2							83.0	81.0	82.0					14																	50130032		2203	4300	6503	SO:0001630	splice_region_variant	5427				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	g.chr14:50130032C>G	AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"""DNA polymerases"""	9178	protein-coding gene	gene with protein product	"""DNA polymerase epsilon subunit B"""	602670	"""polymerase (DNA directed), epsilon 2 (p59 subunit)"""			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.755+1G>C	14.37:g.50130032C>G						SDCCAG1_uc010anj.1_Intron|POLE2_uc010ann.2_Splice_Site|POLE2_uc001wwv.2_Splice_Site|POLE2_uc010ano.2_Splice_Site	p.R252_splice	NM_002692	NP_002683	P56282	DPOE2_HUMAN			10	769	-	all_epithelial(31;0.0021)|Breast(41;0.0124)							A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Splice_Site	SNP	ENST00000216367.5	37	c.755_splice	CCDS32073.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185706	0.78789	.	.	ENSG00000100479	ENST00000216367;ENST00000539565;ENST00000554396	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2875	0.94084	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POLE2	49199782	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	7.236000	0.78154	2.567000	0.86603	0.591000	0.81541	.		PASS	0.378	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1	NM_002692	Intron	6	40	6	40	---	---	---	---
SLC39A9	55334	broad.mit.edu	37	14	69922539	69922539	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr14:69922539G>T	ENST00000336643.5	+	6	1327	c.649G>T	c.(649-651)Gca>Tca	p.A217S	SLC39A9_ENST00000557046.1_Missense_Mutation_p.A194S|SLC39A9_ENST00000556605.1_Missense_Mutation_p.A217S|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000031146.4_Missense_Mutation_p.A151S	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	217					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.A217S(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		CTTTGCATTGGCAGCACCAGT	0.438																																						uc001xle.2																			1	Substitution - Missense(1)		lung(1)		0						c.(649-651)GCA>TCA		solute carrier family 39 (zinc transporter),							141.0	127.0	132.0					14																	69922539		2203	4300	6503	SO:0001583	missense	55334				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr14:69922539G>T		CCDS9795.1, CCDS58327.1, CCDS58328.1	14q24.1	2013-07-17	2013-07-17			ENSG00000029364		"""Solute carriers"""	20182	protein-coding gene	gene with protein product							Standard	NM_018375		Approved	FLJ11274	uc001xle.3	Q9NUM3		ENST00000336643.5:c.649G>T	14.37:g.69922539G>T	ENSP00000336887:p.Ala217Ser					SLC39A9_uc010aqx.2_Missense_Mutation_p.A194S|SLC39A9_uc001xlf.3_Missense_Mutation_p.A217S|SLC39A9_uc001xlg.3_RNA	p.A217S	NM_018375	NP_060845	Q9NUM3	S39A9_HUMAN		all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)	6	1329	+			217			Helical; (Potential).		G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2	Missense_Mutation	SNP	ENST00000336643.5	37	c.649G>T	CCDS9795.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670157	0.47677	.	.	ENSG00000029364	ENST00000556605;ENST00000336643;ENST00000557046	T;T;T	0.47869	0.83;0.83;0.83	5.19	5.19	0.71726	.	0.094168	0.64402	D	0.000001	T	0.43853	0.1266	N	0.21142	0.635	0.80722	D	1	P;D;B	0.56968	0.658;0.978;0.362	B;P;B	0.49999	0.313;0.628;0.214	T	0.14254	-1.0479	10	0.16420	T	0.52	-12.7867	18.8944	0.92417	0.0:0.0:1.0:0.0	.	194;217;217	Q9NUM3-2;G3V5J8;Q9NUM3	.;.;S39A9_HUMAN	S	217;217;194	ENSP00000452385:A217S;ENSP00000336887:A217S;ENSP00000451833:A194S	ENSP00000031146:A217S	A	+	1	0	SLC39A9	68992292	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	9.621000	0.98376	2.696000	0.92011	0.467000	0.42956	GCA		PASS	0.438	SLC39A9-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412446.1	NM_018375		4	87	4	87	---	---	---	---
NEK9	91754	broad.mit.edu	37	14	75558095	75558095	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr14:75558095G>A	ENST00000238616.5	-	19	2478	c.2320C>T	c.(2320-2322)Cca>Tca	p.P774S		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	774	Interaction with NEK6.|Pro/Ser/Thr-rich.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.P774S(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CCTCCACTTGGGTCAGGAGTT	0.567																																						uc001xrl.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(2)|ovary(1)	5						c.(2320-2322)CCA>TCA		NIMA-related kinase 9							99.0	90.0	93.0					14																	75558095		2203	4300	6503	SO:0001583	missense	91754				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr14:75558095G>A	AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.2320C>T	14.37:g.75558095G>A	ENSP00000238616:p.Pro774Ser					NEK9_uc001xrj.2_5'UTR|NEK9_uc001xrk.2_Missense_Mutation_p.P274S	p.P774S	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00718)	19	2474	-			774			Pro/Ser/Thr-rich.|Interaction with NEK6.		Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Missense_Mutation	SNP	ENST00000238616.5	37	c.2320C>T	CCDS9839.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172225	0.78452	.	.	ENSG00000119638	ENST00000238616	T	0.70164	-0.46	5.66	5.66	0.87406	.	0.053036	0.85682	D	0.000000	T	0.71813	0.3384	N	0.24115	0.695	0.52501	D	0.999954	P;D	0.71674	0.948;0.998	P;D	0.63033	0.588;0.91	T	0.74426	-0.3669	10	0.59425	D	0.04	.	19.752	0.96271	0.0:0.0:1.0:0.0	.	774;117	Q8TD19;Q6PKF2	NEK9_HUMAN;.	S	774	ENSP00000238616:P774S	ENSP00000238616:P774S	P	-	1	0	NEK9	74627848	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.239000	0.58694	2.668000	0.90789	0.462000	0.41574	CCA		PASS	0.567	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116		5	44	5	44	---	---	---	---
EFCAB11	90141	broad.mit.edu	37	14	90263621	90263621	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr14:90263621T>C	ENST00000316738.7	-	6	486	c.458A>G	c.(457-459)gAa>gGa	p.E153G	EFCAB11_ENST00000556609.1_Missense_Mutation_p.E105G|RP11-33N16.3_ENST00000555070.1_RNA|EFCAB11_ENST00000555872.1_Missense_Mutation_p.E129G	NM_001284267.1|NM_145231.3	NP_001271196.1|NP_660274.1	Q9BUY7	EFC11_HUMAN	EF-hand calcium binding domain 11	153	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.E153G(1)		large_intestine(1)|lung(1)	2						CAGGGCATATTCAAAGTCTCT	0.398																																						uc001xxt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(457-459)GAA>GGA		hypothetical protein LOC90141							172.0	148.0	156.0					14																	90263621		2203	4300	6503	SO:0001583	missense	90141						calcium ion binding	g.chr14:90263621T>C	AK094740	CCDS9887.1, CCDS61522.1, CCDS61523.1, CCDS61524.1, CCDS61525.1	14q32.11	2013-01-10	2011-01-31	2011-01-31	ENSG00000140025	ENSG00000140025		"""EF-hand domain containing"""	20357	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 143"""	C14orf143			Standard	NM_145231		Approved		uc001xxt.3	Q9BUY7	OTTHUMG00000148671	ENST00000316738.7:c.458A>G	14.37:g.90263621T>C	ENSP00000326267:p.Glu153Gly					C14orf143_uc001xxs.2_Missense_Mutation_p.E129G	p.E153G	NM_145231	NP_660274	Q9BUY7	EFC11_HUMAN		Epithelial(152;0.194)	6	543	-		all_cancers(154;0.136)	153			EF-hand 3.		B3KT10|B7Z5G9|G3V5G1|Q86T09|Q86TV7|Q8NDQ1	Missense_Mutation	SNP	ENST00000316738.7	37	c.458A>G	CCDS9887.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.619649	0.87460	.	.	ENSG00000140025	ENST00000316738;ENST00000555872;ENST00000556609	T;T;T	0.72505	-0.66;-0.66;-0.66	6.03	6.03	0.97812	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.81494	0.4834	M	0.73962	2.25	0.80722	D	1	D;D	0.60575	0.988;0.973	P;P	0.58013	0.831;0.74	D	0.83852	0.0263	10	0.87932	D	0	-18.5028	15.7393	0.77876	0.0:0.0:0.0:1.0	.	153;129	Q9BUY7;Q9BUY7-2	EFC11_HUMAN;.	G	153;129;105	ENSP00000326267:E153G;ENSP00000452320:E129G;ENSP00000452335:E105G	ENSP00000326267:E153G	E	-	2	0	EFCAB11	89333374	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	5.549000	0.67261	2.308000	0.77769	0.533000	0.62120	GAA		PASS	0.398	EFCAB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309022.2	NM_145231		5	46	5	46	---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96783592	96783592	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr14:96783592G>T	ENST00000359933.4	-	20	3993	c.3100C>A	c.(3100-3102)Cgt>Agt	p.R1034S		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1034					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.R1034S(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTGCGAGAACGATAGTTGGGA	0.358																																						uc001yfi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(3100-3102)CGT>AGT		ATG2 autophagy related 2 homolog B							72.0	69.0	70.0					14																	96783592		1809	4075	5884	SO:0001583	missense	55102							g.chr14:96783592G>T	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3100C>A	14.37:g.96783592G>T	ENSP00000353010:p.Arg1034Ser						p.R1034S	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	20	3465	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1034					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.3100C>A	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854641	0.51376	.	.	ENSG00000066739	ENST00000359933	T	0.50548	0.74	5.66	5.66	0.87406	.	0.282711	0.29113	U	0.013114	T	0.38134	0.1029	L	0.44542	1.39	0.35989	D	0.836576	P	0.36010	0.532	B	0.28991	0.097	T	0.47433	-0.9118	10	0.34782	T	0.22	.	14.3141	0.66437	0.071:0.0:0.929:0.0	.	1034	Q96BY7	ATG2B_HUMAN	S	1034	ENSP00000353010:R1034S	ENSP00000353010:R1034S	R	-	1	0	ATG2B	95853345	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.214000	0.58527	2.831000	0.97527	0.650000	0.86243	CGT		PASS	0.358	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		6	48	6	48	---	---	---	---
IGHG1	3500	broad.mit.edu	37	14	106208314	106208314	+	RNA	SNP	A	A	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr14:106208314A>T	ENST00000390548.2	-	0	585							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CCATTCAGCCAGTCCTGGTGC	0.592																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							249.0	243.0	245.0					14																	106208314		2183	4274	6457			8755							g.chr14:106208314A>T	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106208314A>T						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Missense_Mutation_p.W62R|uc001ysf.2_Missense_Mutation_p.W62R								3627		-									RNA	SNP	ENST00000390548.2	37	c.58900T>A																																																																																					PASS	0.592	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		6	166	6	166	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25296707	25296707	+	RNA	SNP	G	G	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr15:25296707G>C	ENST00000549804.2	+	0	98				SNORD116-2_ENST00000384274.1_RNA|SNORD116-1_ENST00000384335.1_RNA|SNHG14_ENST00000547292.1_RNA|RP11-701H24.10_ENST00000552781.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		ATTCTCATCGGAACTGAGGTC	0.478																																						uc001yxg.2																			0					0								Homo sapiens small nucleolar RNA, C/D box 116-1 (SNORD116-1), non-coding RNA.							169.0	153.0	158.0					15																	25296707		876	1991	2867			100033413							g.chr15:25296707G>C			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25296707G>C								NR_003316						1		+									RNA	SNP	ENST00000549804.2	37	c.85G>C																																																																																					PASS	0.478	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			11	68	11	68	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28492038	28492038	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr15:28492038C>G	ENST00000261609.7	-	22	3349	c.3241G>C	c.(3241-3243)Gag>Cag	p.E1081Q		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.E1081Q(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCCATTAGCTCTGGACCTTGA	0.428																																						uc001zbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(3241-3243)GAG>CAG		hect domain and RLD 2							83.0	70.0	75.0					15																	28492038		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28492038C>G	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3241G>C	15.37:g.28492038C>G	ENSP00000261609:p.Glu1081Gln						p.E1081Q	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	22	3347	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1081						Missense_Mutation	SNP	ENST00000261609.7	37	c.3241G>C	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104415	0.37145	.	.	ENSG00000128731	ENST00000261609	T	0.39997	1.05	5.43	5.43	0.79202	.	0.052914	0.64402	D	0.000001	T	0.45716	0.1356	L	0.59436	1.845	0.58432	D	0.999998	B	0.26635	0.155	B	0.28784	0.094	T	0.40831	-0.9542	10	0.52906	T	0.07	.	19.229	0.93829	0.0:1.0:0.0:0.0	.	1081	O95714	HERC2_HUMAN	Q	1081	ENSP00000261609:E1081Q	ENSP00000261609:E1081Q	E	-	1	0	HERC2	26165633	1.000000	0.71417	0.997000	0.53966	0.056000	0.15407	7.818000	0.86416	2.546000	0.85860	0.650000	0.86243	GAG		PASS	0.428	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		3	38	3	38	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20563569	20563569	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr16:20563569C>A	ENST00000329697.6	-	6	959	c.791G>T	c.(790-792)gGt>gTt	p.G264V	ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Missense_Mutation_p.G264V|ACSM2B_ENST00000565322.1_Missense_Mutation_p.G185V|ACSM2B_ENST00000565232.1_Missense_Mutation_p.G264V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	264					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.G264V(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CAGTATCCAACCTGTGTCTGA	0.433																																						uc002dhj.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(790-792)GGT>GTT		acyl-CoA synthetase medium-chain family member							191.0	178.0	182.0					16																	20563569		2201	4300	6501	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20563569C>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.791G>T	16.37:g.20563569C>A	ENSP00000327453:p.Gly264Val					ACSM2B_uc002dhk.3_Missense_Mutation_p.G264V|ACSM2B_uc010bwf.1_Missense_Mutation_p.G264V	p.G264V	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			7	1001	-			264					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.791G>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914995	0.72983	.	.	ENSG00000066813	ENST00000329697	T	0.41065	1.01	3.23	-2.78	0.05859	AMP-dependent synthetase/ligase (1);	0.954318	0.08549	N	0.929309	T	0.68513	0.3009	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.77437	-0.2588	10	0.87932	D	0	-0.2586	16.7377	0.85451	0.0:0.8011:0.1989:0.0	.	264;264	A8K051;Q68CK6	.;ACS2B_HUMAN	V	264	ENSP00000327453:G264V	ENSP00000327453:G264V	G	-	2	0	ACSM2B	20471070	0.002000	0.14202	0.707000	0.30419	0.819000	0.46315	-0.034000	0.12225	-0.184000	0.10567	-0.316000	0.08728	GGT		PASS	0.433	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		12	128	12	128	---	---	---	---
SCNN1G	6340	broad.mit.edu	37	16	23197812	23197812	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr16:23197812C>T	ENST00000300061.2	+	2	363	c.220C>T	c.(220-222)Ctc>Ttc	p.L74F		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	74					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)	p.L74F(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GTGCGCCCTCCTCGTCTTCTC	0.582																																						uc002dlm.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(220-222)CTC>TTC		sodium channel, nonvoltage-gated 1, gamma	Amiloride(DB00594)|Triamterene(DB00384)						68.0	63.0	65.0					16																	23197812		2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23197812C>T	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.220C>T	16.37:g.23197812C>T	ENSP00000300061:p.Leu74Phe						p.L74F	NM_001039	NP_001030	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	2	359	+			74			Helical; (By similarity).		P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.220C>T	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613794	0.66672	.	.	ENSG00000166828	ENST00000300061	T	0.66995	-0.24	5.34	5.34	0.76211	.	0.197695	0.34603	N	0.003825	T	0.74749	0.3757	L	0.48877	1.53	0.51482	D	0.999925	D	0.60575	0.988	P	0.61201	0.885	T	0.72257	-0.4346	10	0.33940	T	0.23	-33.6212	17.6141	0.88063	0.0:1.0:0.0:0.0	.	74	P51170	SCNNG_HUMAN	F	74	ENSP00000300061:L74F	ENSP00000300061:L74F	L	+	1	0	SCNN1G	23105313	1.000000	0.71417	0.893000	0.35052	0.952000	0.60782	4.109000	0.57824	2.491000	0.84063	0.563000	0.77884	CTC		PASS	0.582	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		3	49	3	49	---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31382999	31382999	+	Missense_Mutation	SNP	G	G	A	rs146647978	byFrequency	TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr16:31382999G>A	ENST00000268296.4	+	17	2175	c.2054G>A	c.(2053-2055)cGc>cAc	p.R685H	ITGAX_ENST00000562522.1_Missense_Mutation_p.R685H	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	685					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.R685H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GACCCTGGCCGCCTGAGTCCC	0.607																																						uc002ebu.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2053-2055)CGC>CAC		integrin alpha X precursor							66.0	64.0	65.0					16																	31382999		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31382999G>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2054G>A	16.37:g.31382999G>A	ENSP00000268296:p.Arg685His					ITGAX_uc002ebt.2_Missense_Mutation_p.R685H	p.R685H	NM_000887	NP_000878	P20702	ITAX_HUMAN			17	2121	+			685			Extracellular (Potential).		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.2054G>A	CCDS10711.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	20.7	4.035621	0.75617	.	.	ENSG00000140678	ENST00000268296	T	0.51574	0.7	5.4	4.45	0.53987	Integrin alpha-2 (1);	.	.	.	.	T	0.66386	0.2784	M	0.81802	2.56	0.39690	D	0.971037	D	0.89917	1.0	D	0.67725	0.953	T	0.72100	-0.4392	9	0.87932	D	0	.	10.3716	0.44058	0.0907:0.0:0.9093:0.0	.	685	P20702	ITAX_HUMAN	H	685	ENSP00000268296:R685H	ENSP00000268296:R685H	R	+	2	0	ITGAX	31290500	0.995000	0.38212	0.900000	0.35374	0.705000	0.40729	1.722000	0.38042	1.396000	0.46663	0.655000	0.94253	CGC		PASS	0.607	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		4	45	4	45	---	---	---	---
NOD2	64127	broad.mit.edu	37	16	50756589	50756589	+	Missense_Mutation	SNP	G	G	T	rs104895453		TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr16:50756589G>T	ENST00000300589.2	+	8	2876	c.2771G>T	c.(2770-2772)gGt>gTt	p.G924V		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	924			G -> D (associated with Crohn disease). {ECO:0000269|PubMed:11385576}.		activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|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 nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|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)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.G924V(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GAAGCCTTGGGTGATCACCAG	0.557																																						uc002egm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4	GRCh37	CM020666	NOD2	M	rs104895453	c.(2770-2772)GGT>GTT		nucleotide-binding oligomerization domain							200.0	212.0	208.0					16																	50756589		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50756589G>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2771G>T	16.37:g.50756589G>T	ENSP00000300589:p.Gly924Val					NOD2_uc010cbl.1_Missense_Mutation_p.G674V|NOD2_uc010cbm.1_Missense_Mutation_p.G674V|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_RNA|NOD2_uc010cbq.1_Missense_Mutation_p.G62V|NOD2_uc010cbr.1_RNA|NOD2_uc010vgq.1_5'UTR	p.G924V	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			8	2876	+		all_cancers(37;0.0156)	924		G -> D (associated with Crohn disease).			E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.2771G>T	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.295406	0.23564	.	.	ENSG00000167207	ENST00000526417;ENST00000300589;ENST00000431240	T	0.52057	0.68	5.91	1.0	0.19881	.	1.398320	0.04151	N	0.321370	T	0.29423	0.0733	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.16305	-1.0407	10	0.33141	T	0.24	.	3.9016	0.09164	0.3454:0.264:0.3906:0.0	.	897;924	Q9HC29-2;Q9HC29	.;NOD2_HUMAN	V	897;924;64	ENSP00000300589:G924V	ENSP00000300589:G924V	G	+	2	0	NOD2	49314090	0.001000	0.12720	0.001000	0.08648	0.881000	0.50899	0.595000	0.24029	0.326000	0.23384	0.655000	0.94253	GGT		PASS	0.557	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		26	231	26	231	---	---	---	---
RPGRIP1L	23322	broad.mit.edu	37	16	53730170	53730170	+	Silent	SNP	T	T	C	rs569208946	byFrequency	TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr16:53730170T>C	ENST00000379925.3	-	3	173	c.123A>G	c.(121-123)gcA>gcG	p.A41A	RPGRIP1L_ENST00000262135.4_Silent_p.A41A|RPGRIP1L_ENST00000568653.3_Silent_p.A41A|RPGRIP1L_ENST00000564374.1_Silent_p.A41A|RPGRIP1L_ENST00000566096.1_Silent_p.A41A|RPGRIP1L_ENST00000563746.1_Silent_p.A41A	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	41					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)	p.A41A(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CACGTGACACTGCCTGGCGAG	0.403													T|||	7	0.00139776	0.0	0.0	5008	,	,		16743	0.0		0.0	False		,,,				2504	0.0072					uc002ehp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(121-123)GCA>GCG		RPGRIP1-like isoform a							174.0	174.0	174.0					16																	53730170		2198	4300	6498	SO:0001819	synonymous_variant	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53730170T>C		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.123A>G	16.37:g.53730170T>C						RPGRIP1L_uc002eho.3_Silent_p.A41A|RPGRIP1L_uc010vgy.1_Silent_p.A41A|RPGRIP1L_uc010cbx.2_Silent_p.A41A|RPGRIP1L_uc010vgz.1_Silent_p.A41A|RPGRIP1L_uc002ehq.1_Silent_p.A41A|RPGRIP1L_uc010cby.1_Silent_p.A41A	p.A41A	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN			3	187	-		all_cancers(37;0.0973)	41					A0PJ88|Q9Y2K8	Silent	SNP	ENST00000379925.3	37	c.123A>G	CCDS32447.1																																																																																				PASS	0.403	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		8	141	8	141	---	---	---	---
CPNE7	27132	broad.mit.edu	37	16	89650453	89650453	+	Silent	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr16:89650453C>A	ENST00000268720.5	+	6	805	c.675C>A	c.(673-675)atC>atA	p.I225I	CPNE7_ENST00000319518.8_Silent_p.I150I	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	225					lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)	p.I225I(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CCGAGGACATCTCGGGGAACA	0.706																																						uc002fnp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(673-675)ATC>ATA		copine 7 isoform b							53.0	49.0	50.0					16																	89650453		2196	4300	6496	SO:0001819	synonymous_variant	27132				lipid metabolic process		transporter activity	g.chr16:89650453C>A	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.675C>A	16.37:g.89650453C>A						CPNE7_uc002fnq.2_Silent_p.I150I	p.I225I	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)	6	805	+		all_hematologic(23;0.0748)	225						Silent	SNP	ENST00000268720.5	37	c.675C>A	CCDS10980.1																																																																																				PASS	0.706	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			4	39	4	39	---	---	---	---
OR1D2	4991	broad.mit.edu	37	17	2996153	2996153	+	Silent	SNP	G	G	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr17:2996153G>A	ENST00000331459.1	-	1	137	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	46					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I46I(1)		kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						TGATGGCCAGGATGATGAGCA	0.547																																						uc010vrb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(136-138)ATC>ATT		olfactory receptor, family 1, subfamily D,							140.0	130.0	133.0					17																	2996153		2203	4300	6503	SO:0001819	synonymous_variant	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2996153G>A	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.138C>T	17.37:g.2996153G>A							p.I46I	NM_002548	NP_002539	P34982	OR1D2_HUMAN			1	138	-			46			Helical; Name=1; (Potential).		Q6IFL8|Q96RA4|Q9UM78	Silent	SNP	ENST00000331459.1	37	c.138C>T	CCDS11019.1																																																																																				PASS	0.547	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		8	63	8	63	---	---	---	---
NEURL4	84461	broad.mit.edu	37	17	7230235	7230235	+	Missense_Mutation	SNP	G	G	A	rs369572233		TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr17:7230235G>A	ENST00000399464.2	-	4	902	c.887C>T	c.(886-888)cCg>cTg	p.P296L	NEURL4_ENST00000570460.1_Missense_Mutation_p.P274L|NEURL4_ENST00000315614.7_Missense_Mutation_p.P296L	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	296						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P296L(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTCCCCTGCCGGTGGGGAGCT	0.562													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18181	0.0		0.0	False		,,,				2504	0.0					uc002gga.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(886-888)CCG>CTG		neuralized homolog 4 isoform 1		G	LEU/PRO,LEU/PRO	1,4065		0,1,2032	74.0	78.0	76.0		887,887	4.8	0.3	17		76	0,8332		0,0,4166	no	missense,missense	NEURL4	NM_032442.2,NM_001005408.1	98,98	0,1,6198	AA,AG,GG		0.0,0.0246,0.0081	benign,benign	296/1563,296/1561	7230235	1,12397	2033	4166	6199	SO:0001583	missense	84461						protein binding	g.chr17:7230235G>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.887C>T	17.37:g.7230235G>A	ENSP00000382390:p.Pro296Leu					NEURL4_uc002ggb.1_Missense_Mutation_p.P296L|NEURL4_uc002ggc.1_5'Flank	p.P296L	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN			4	894	-			296					Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.887C>T	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	G	9.175	1.022045	0.19433	2.46E-4	0.0	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.31247	1.5;1.5	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.27765	0.0683	L	0.43152	1.355	0.48395	D	0.999647	B;B	0.14012	0.009;0.005	B;B	0.09377	0.004;0.002	T	0.03130	-1.1069	10	0.33940	T	0.23	-11.6565	15.2186	0.73292	0.0:0.0:1.0:0.0	.	296;296	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	L	296	ENSP00000319826:P296L;ENSP00000382390:P296L	ENSP00000319826:P296L	P	-	2	0	NEURL4	7170959	0.998000	0.40836	0.255000	0.24374	0.014000	0.08584	4.532000	0.60608	2.653000	0.90120	0.655000	0.94253	CCG		PASS	0.562	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		3	36	3	36	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10450814	10450814	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr17:10450814C>G	ENST00000245503.5	-	4	710	c.326G>C	c.(325-327)cGt>cCt	p.R109P	MYH2_ENST00000397183.2_Missense_Mutation_p.R109P|MYH2_ENST00000532183.2_Missense_Mutation_p.R109P|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	109	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R109P(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGCTGCATAACGTTCTTTGAG	0.483																																						uc010coi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(325-327)CGT>CCT		myosin heavy chain IIa							327.0	276.0	293.0					17																	10450814		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10450814C>G		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.326G>C	17.37:g.10450814C>G	ENSP00000245503:p.Arg109Pro					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R109P|MYH2_uc010coj.2_Missense_Mutation_p.R109P	p.R109P	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			4	454	-			109			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.326G>C	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042385	0.55003	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183;ENST00000420805;ENST00000431502	D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93	5.95	5.95	0.96441	Myosin head, motor domain (2);	0.000000	0.40222	U	0.001156	D	0.96898	0.8987	H	0.99965	5.09	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.999	D	0.98552	1.0637	10	0.87932	D	0	.	19.3694	0.94479	0.0:1.0:0.0:0.0	.	109;109	Q567P6;Q9UKX2	.;MYH2_HUMAN	P	109	ENSP00000433944:R109P;ENSP00000245503:R109P;ENSP00000380367:R109P;ENSP00000399348:R109P;ENSP00000416072:R109P	ENSP00000245503:R109P	R	-	2	0	MYH2	10391539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.757000	0.85209	2.821000	0.97095	0.650000	0.86243	CGT		PASS	0.483	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		13	97	13	97	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11642197	11642197	+	Splice_Site	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr17:11642197G>T	ENST00000262442.4	+	29	5883	c.5815G>T	c.(5815-5817)Gta>Tta	p.V1939L	DNAH9_ENST00000454412.2_Splice_Site_p.V1939L|AC005701.1_ENST00000584990.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1939	AAA 1. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.V1939L(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGTTCACCAGGTAAAAAGCAT	0.448																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(5815-5817)GTA>TTA		dynein, axonemal, heavy chain 9 isoform 2							108.0	99.0	102.0					17																	11642197		2203	4300	6503	SO:0001630	splice_region_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11642197G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5815-1G>T	17.37:g.11642197G>T						DNAH9_uc010coo.2_Missense_Mutation_p.V1233L	p.V1939L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	29	5883	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1939			AAA 1 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.5815G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	32	5.152980	0.94645	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.13089	2.62;2.62	5.74	5.74	0.90152	ATPase, AAA+ type, core (1);	0.079417	0.51477	D	0.000096	T	0.34513	0.0900	L	0.53561	1.675	0.80722	D	1	D	0.67145	0.996	D	0.71656	0.974	T	0.00382	-1.1775	9	.	.	.	.	19.9038	0.96999	0.0:0.0:1.0:0.0	.	1939	Q9NYC9	DYH9_HUMAN	L	1939;1939;521	ENSP00000262442:V1939L;ENSP00000414874:V1939L	.	V	+	1	0	DNAH9	11582922	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.310000	0.96267	2.694000	0.91930	0.591000	0.81541	GTA		PASS	0.448	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	Missense_Mutation	5	51	5	51	---	---	---	---
TTLL6	284076	broad.mit.edu	37	17	46847213	46847213	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr17:46847213G>T	ENST00000393382.3	-	14	2428	c.2287C>A	c.(2287-2289)Cta>Ata	p.L763I	TTLL6_ENST00000433608.2_Missense_Mutation_p.L456I	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6									p.L441I(1)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TCACTCTTTAGCAAAGTCCAG	0.463																																						uc010wlo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2287-2289)CTA>ATA		tubulin tyrosine ligase-like family, member 6							132.0	118.0	123.0					17																	46847213		2203	4300	6503	SO:0001583	missense	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46847213G>T	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.2287C>A	17.37:g.46847213G>T	ENSP00000377043:p.Leu763Ile					TTLL6_uc002iob.2_Missense_Mutation_p.L456I|TTLL6_uc010dbi.2_Intron|TTLL6_uc002ioc.2_Missense_Mutation_p.L516I|TTLL6_uc002iod.2_Intron	p.L763I	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN			15	2322	-			715						Missense_Mutation	SNP	ENST00000393382.3	37	c.2287C>A	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	G	8.875	0.950183	0.18431	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	4.48	-0.161	0.13371	.	.	.	.	.	T	0.23249	0.0562	L	0.51422	1.61	0.09310	N	1	B;P	0.36909	0.278;0.573	B;B	0.32677	0.034;0.15	T	0.14587	-1.0467	8	0.27785	T	0.31	.	1.7708	0.03011	0.1078:0.2121:0.3473:0.3327	.	715;456	Q8N841;G5E937	TTLL6_HUMAN;.	I	763;456;441;715	.	ENSP00000302547:L456I	L	-	1	2	TTLL6	44202212	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.057000	0.11768	0.203000	0.20529	0.655000	0.94253	CTA		PASS	0.463	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		4	48	4	48	---	---	---	---
KIF2B	84643	broad.mit.edu	37	17	51900915	51900915	+	Missense_Mutation	SNP	G	G	A	rs535420177		TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr17:51900915G>A	ENST00000268919.4	+	1	677	c.521G>A	c.(520-522)cGc>cAc	p.R174H		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	174					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.R174H(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						CGAGCTAGACGCGCCCTCGAT	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		17757	0.0		0.0	False		,,,				2504	0.001					uc002iua.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)	8						c.(520-522)CGC>CAC		kinesin family member 2B							67.0	64.0	65.0					17																	51900915		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.chr17:51900915G>A	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.521G>A	17.37:g.51900915G>A	ENSP00000268919:p.Arg174His					uc010wna.1_RNA	p.R174H	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	677	+			174			Potential.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.521G>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119152	0.56505	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.76316	-1.01	5.52	5.52	0.82312	.	0.161344	0.25166	N	0.032624	T	0.78464	0.4287	L	0.61036	1.89	0.29883	N	0.825835	P	0.49783	0.928	B	0.43658	0.426	T	0.79904	-0.1606	10	0.87932	D	0	.	16.9461	0.86230	0.0:0.0:1.0:0.0	.	174	Q8N4N8	KIF2B_HUMAN	H	174;97	ENSP00000268919:R174H	ENSP00000268919:R174H	R	+	2	0	KIF2B	49255914	0.242000	0.23868	0.663000	0.29738	0.473000	0.32948	3.084000	0.50143	2.739000	0.93911	0.655000	0.94253	CGC		PASS	0.547	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		7	64	7	64	---	---	---	---
WDR7	23335	broad.mit.edu	37	18	54605772	54605772	+	Missense_Mutation	SNP	A	A	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr18:54605772A>C	ENST00000254442.3	+	24	4051	c.3840A>C	c.(3838-3840)agA>agC	p.R1280S	WDR7_ENST00000357574.3_Missense_Mutation_p.R1247S|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1280					hematopoietic progenitor cell differentiation (GO:0002244)			p.R1280S(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGGTACACAGACATACGGCTC	0.348																																						uc002lgk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3838-3840)AGA>AGC		rabconnectin-3 beta isoform 1							88.0	82.0	84.0					18																	54605772		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54605772A>C	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3840A>C	18.37:g.54605772A>C	ENSP00000254442:p.Arg1280Ser					WDR7_uc002lgl.1_Missense_Mutation_p.R1247S	p.R1280S	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	24	4051	+			1280					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.3840A>C	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.563503	0.65651	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.30981	2.27;1.51	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.34164	0.0888	L	0.53561	1.675	0.58432	D	0.999998	B;B	0.31817	0.341;0.231	B;B	0.32762	0.152;0.073	T	0.12915	-1.0529	10	0.72032	D	0.01	.	16.1557	0.81666	1.0:0.0:0.0:0.0	.	1247;1280	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	S	1280;1247;605;1247	ENSP00000254442:R1280S;ENSP00000350187:R1247S	ENSP00000254442:R1280S	R	+	3	2	WDR7	52756770	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	1.348000	0.33987	2.291000	0.77112	0.533000	0.62120	AGA		PASS	0.348	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			5	41	5	41	---	---	---	---
ATP8B1	5205	broad.mit.edu	37	18	55317699	55317699	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr18:55317699T>A	ENST00000283684.4	-	26	3430	c.3431A>T	c.(3430-3432)tAc>tTc	p.Y1144F	RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.Y1144F			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1144					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.Y1144F(1)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TAACCAAATGTATGGCTGTCT	0.438																																						uc002lgw.2																			1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10						c.(3430-3432)TAC>TTC		ATPase, class I, type 8B, member 1							164.0	133.0	143.0					18																	55317699		2203	4300	6503	SO:0001583	missense	5205	Byler_disease			ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55317699T>A	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.3431A>T	18.37:g.55317699T>A	ENSP00000283684:p.Tyr1144Phe					uc002lgu.1_Intron|uc002lgv.1_Intron	p.Y1144F	NM_005603	NP_005594	O43520	AT8B1_HUMAN			26	3431	-		Colorectal(73;0.229)	1144			Helical; (Potential).		Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.3431A>T	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.690968	0.29962	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.41065	1.01;1.01	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.59348	0.2187	M	0.66506	2.035	0.58432	D	0.999999	D	0.71674	0.998	D	0.77004	0.989	T	0.56153	-0.8026	10	0.11182	T	0.66	.	15.2822	0.73794	0.0:0.0:0.0:1.0	.	1144	O43520	AT8B1_HUMAN	F	1144	ENSP00000283684:Y1144F;ENSP00000445359:Y1144F	ENSP00000283684:Y1144F	Y	-	2	0	ATP8B1	53468697	1.000000	0.71417	0.111000	0.21465	0.068000	0.16541	5.768000	0.68858	2.094000	0.63399	0.454000	0.30748	TAC		PASS	0.438	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		3	32	3	32	---	---	---	---
ZCCHC2	54877	broad.mit.edu	37	18	60241357	60241357	+	Silent	SNP	C	C	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr18:60241357C>G	ENST00000269499.5	+	13	2461	c.2043C>G	c.(2041-2043)gtC>gtG	p.V681V	ZCCHC2_ENST00000586834.1_Silent_p.V360V	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	681						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)	p.V681V(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ACGGTTCTGTCAACCAGACTG	0.398																																						uc002lip.3																			1	Substitution - coding silent(1)		lung(1)	lung(1)|prostate(1)	2						c.(2041-2043)GTC>GTG		zinc finger, CCHC domain containing 2							127.0	118.0	121.0					18																	60241357		1870	4104	5974	SO:0001819	synonymous_variant	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60241357C>G	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.2043C>G	18.37:g.60241357C>G						ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Silent_p.V151V	p.V681V	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN			13	2043	+			681					B2RPG6|Q8N3S1|Q9NXF6	Silent	SNP	ENST00000269499.5	37	c.2043C>G	CCDS45880.1																																																																																				PASS	0.398	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		4	76	4	76	---	---	---	---
TMPRSS9	360200	broad.mit.edu	37	19	2413785	2413785	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr19:2413785G>A	ENST00000332578.3	+	9	1240	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	414	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.E414K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		CGGGTGTGCGGAAGCCCGGCG	0.647																																						uc010xgx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1240-1242)GAA>AAA		transmembrane protease, serine 9							57.0	62.0	61.0					19																	2413785		2203	4300	6503	SO:0001583	missense	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2413785G>A	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.1240G>A	19.37:g.2413785G>A	ENSP00000330264:p.Glu414Lys					TMPRSS9_uc002lvv.1_Missense_Mutation_p.E448K	p.E414K	NM_182973	NP_892018	Q7Z410	TMPS9_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)	9	1240	+			414			Extracellular (Potential).|Peptidase S1 1.		Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	c.1240G>A	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.750322	0.30955	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	D	0.88354	-2.37	3.93	1.65	0.23941	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.131086	0.33670	N	0.004673	D	0.87545	0.6204	N	0.20483	0.58	0.09310	N	1	D;P	0.64830	0.994;0.917	D;P	0.76071	0.987;0.592	T	0.79584	-0.1743	10	0.16896	T	0.51	.	12.2632	0.54663	0.0:0.329:0.671:0.0	.	414;448	Q7Z410;E7EMP4	TMPS9_HUMAN;.	K	448;414	ENSP00000330264:E414K	ENSP00000330264:E414K	E	+	1	0	TMPRSS9	2364785	0.938000	0.31826	0.004000	0.12327	0.001000	0.01503	2.677000	0.46892	0.148000	0.19059	-0.314000	0.08810	GAA		PASS	0.647	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		6	57	6	57	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9060192	9060192	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr19:9060192G>C	ENST00000397910.4	-	3	27457	c.27254C>G	c.(27253-27255)tCt>tGt	p.S9085C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9087	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.S9085C(1)|p.S4718C(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						AGCCCCAGGAGAACCTGTTTG	0.468																																						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.(27253-27255)TCT>TGT		mucin 16							183.0	171.0	175.0					19																	9060192		1934	4136	6070	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9060192G>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.27254C>G	19.37:g.9060192G>C	ENSP00000381008:p.Ser9085Cys						p.S9085C	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	27458	-			9087			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.27254C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.308	-0.602888	0.03744	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	2.41	-4.81	0.03180	.	.	.	.	.	T	0.02688	0.0081	N	0.14661	0.345	.	.	.	D	0.56521	0.976	P	0.52454	0.699	T	0.19031	-1.0318	8	0.87932	D	0	.	3.7437	0.08540	0.4237:0.0:0.1784:0.3979	.	9085	B5ME49	.	C	9085	ENSP00000381008:S9085C	ENSP00000381008:S9085C	S	-	2	0	MUC16	8921192	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.290000	0.01148	-2.469000	0.00531	0.461000	0.40582	TCT		PASS	0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	67	3	67	---	---	---	---
ZNF560	147741	broad.mit.edu	37	19	9577721	9577721	+	Silent	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr19:9577721C>A	ENST00000301480.4	-	10	2115	c.1902G>T	c.(1900-1902)ggG>ggT	p.G634G		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	634					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.G634G(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CAAAGGCTTTCCCACAGTCCT	0.378																																						uc002mlp.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						c.(1900-1902)GGG>GGT		zinc finger protein 560							120.0	118.0	119.0					19																	9577721		2203	4300	6503	SO:0001819	synonymous_variant	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9577721C>A	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1902G>T	19.37:g.9577721C>A						ZNF560_uc010dwr.1_Silent_p.G528G	p.G634G	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN			10	2112	-			634			C2H2-type 11; degenerate.		Q495S9|Q495T1	Silent	SNP	ENST00000301480.4	37	c.1902G>T	CCDS12214.1																																																																																				PASS	0.378	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		6	92	6	92	---	---	---	---
ZNF563	147837	broad.mit.edu	37	19	12429653	12429653	+	Nonsense_Mutation	SNP	T	T	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr19:12429653T>A	ENST00000293725.5	-	4	1391	c.1186A>T	c.(1186-1188)Aag>Tag	p.K396*		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	396					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.K396*(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CCACATATCTTGCATTTATGA	0.428																																					GBM(39;623 795 5132 29510 31476)	uc002mtp.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1186-1188)AAG>TAG		zinc finger protein 563							180.0	173.0	175.0					19																	12429653		2203	4300	6503	SO:0001587	stop_gained	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12429653T>A	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.1186A>T	19.37:g.12429653T>A	ENSP00000293725:p.Lys396*						p.K396*	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN			4	1424	-			396			C2H2-type 10.		B2R9E7|Q8NAT7	Nonsense_Mutation	SNP	ENST00000293725.5	37	c.1186A>T	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.350468	0.82132	.	.	ENSG00000188868	ENST00000293725	.	.	.	1.0	1.0	0.19881	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.0726	0.03617	0.2874:0.0:0.2897:0.4229	.	.	.	.	X	396	.	ENSP00000293725:K396X	K	-	1	0	ZNF563	12290653	0.000000	0.05858	0.018000	0.16275	0.384000	0.30261	-4.346000	0.00249	0.699000	0.31761	0.260000	0.18958	AAG		PASS	0.428	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		10	146	10	146	---	---	---	---
CD97	976	broad.mit.edu	37	19	14517527	14517527	+	Silent	SNP	T	T	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr19:14517527T>C	ENST00000242786.5	+	16	2144	c.2064T>C	c.(2062-2064)ttT>ttC	p.F688F	CD97_ENST00000358600.3_Silent_p.F595F|CD97_ENST00000357355.3_Silent_p.F639F|DDX39A_ENST00000592927.1_5'Flank|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	688					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.F688F(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGTTGGACTTTGAGCAGGGCT	0.622											OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002myl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(2062-2064)TTT>TTC		CD97 antigen isoform 1 precursor							141.0	140.0	140.0					19																	14517527		2203	4300	6503	SO:0001819	synonymous_variant	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14517527T>C		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2064T>C	19.37:g.14517527T>C			OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	695	CD97_uc002mym.2_Silent_p.F639F|CD97_uc002myn.2_Silent_p.F595F	p.F688F	NM_078481	NP_510966	P48960	CD97_HUMAN			16	2187	+			688			Extracellular (Potential).		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	ENST00000242786.5	37	c.2064T>C	CCDS32929.1																																																																																				PASS	0.622	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		9	117	9	117	---	---	---	---
CILP2	148113	broad.mit.edu	37	19	19654982	19654982	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr19:19654982G>T	ENST00000291495.5	+	8	1713	c.1628G>T	c.(1627-1629)cGa>cTa	p.R543L	CILP2_ENST00000586018.1_Missense_Mutation_p.R549L	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	543						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.R543L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TTTGATCCTCGAGGTGCCGGC	0.607																																						uc002nmv.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1627-1629)CGA>CTA		cartilage intermediate layer protein 2							56.0	60.0	59.0					19																	19654982		2203	4300	6503	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19654982G>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1628G>T	19.37:g.19654982G>T	ENSP00000291495:p.Arg543Leu					CILP2_uc002nmw.3_Missense_Mutation_p.R549L	p.R543L	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			8	1713	+			543					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.1628G>T	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	9.729	1.161730	0.21538	.	.	ENSG00000160161	ENST00000291495	T	0.47528	0.84	3.77	3.77	0.43336	Carbohydrate-binding-like fold (1);	0.233414	0.35349	N	0.003267	T	0.37128	0.0992	L	0.44542	1.39	0.38575	D	0.950046	P;B	0.43287	0.802;0.268	B;B	0.40982	0.345;0.062	T	0.30592	-0.9973	10	0.39692	T	0.17	-4.8296	7.3079	0.26457	0.1252:0.0:0.8748:0.0	.	543;543	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	L	543	ENSP00000291495:R543L	ENSP00000291495:R543L	R	+	2	0	CILP2	19515982	0.006000	0.16342	0.782000	0.31804	0.779000	0.44077	1.357000	0.34090	1.662000	0.50781	0.430000	0.28490	CGA		PASS	0.607	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		3	44	3	44	---	---	---	---
RASGRP4	115727	broad.mit.edu	37	19	38911761	38911761	+	Silent	SNP	G	G	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr19:38911761G>C	ENST00000587738.1	-	3	358	c.288C>G	c.(286-288)gcC>gcG	p.A96A	RASGRP4_ENST00000426920.2_Silent_p.A96A|RASGRP4_ENST00000433821.2_Silent_p.A96A|RASGRP4_ENST00000586305.1_Silent_p.A96A|RASGRP4_ENST00000454404.2_Silent_p.A96A|RASGRP4_ENST00000293062.9_Silent_p.A96A|RASGRP4_ENST00000587753.1_Silent_p.A96A			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	96	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.A96A(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGCCAGGTCGGCGGACGGCA	0.632																																						uc002oir.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|lung(1)|skin(1)	3						c.(286-288)GCC>GCG		RAS guanyl releasing protein 4 isoform a							56.0	62.0	60.0					19																	38911761		2114	4237	6351	SO:0001819	synonymous_variant	115727				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	g.chr19:38911761G>C	AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.288C>G	19.37:g.38911761G>C						RASGRP4_uc010efz.1_5'Flank|RASGRP4_uc010ega.1_5'Flank|RASGRP4_uc010xua.1_Silent_p.A96A|RASGRP4_uc010xub.1_Silent_p.A96A|RASGRP4_uc010xuc.1_Silent_p.A96A|RASGRP4_uc010xud.1_Silent_p.A96A|RASGRP4_uc010xue.1_Silent_p.A96A|RASGRP4_uc010egb.2_Silent_p.A96A	p.A96A	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	502	-	all_cancers(60;4.21e-06)		96			N-terminal Ras-GEF.		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Silent	SNP	ENST00000587738.1	37	c.288C>G	CCDS46068.1																																																																																				PASS	0.632	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		11	49	11	49	---	---	---	---
ZNF230	7773	broad.mit.edu	37	19	44515309	44515309	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr19:44515309A>G	ENST00000429154.2	+	5	1346	c.1118A>G	c.(1117-1119)tAc>tGc	p.Y373C		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	373					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.Y373C(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GGGAAGGGCTACATTAGTAAG	0.458																																					GBM(175;914 2069 22996 47111 52600)	uc002oyb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1117-1119)TAC>TGC		zinc finger protein 230							115.0	108.0	110.0					19																	44515309		2203	4300	6503	SO:0001583	missense	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44515309A>G	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.1118A>G	19.37:g.44515309A>G	ENSP00000409318:p.Tyr373Cys						p.Y373C	NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN			5	1369	+		Prostate(69;0.0352)	373			C2H2-type 8.		O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	c.1118A>G	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	A	18.87	3.714759	0.68730	.	.	ENSG00000159882	ENST00000429154	T	0.17691	2.26	2.55	0.0974	0.14493	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24851	0.0603	L	0.35341	1.055	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.03103	-1.1072	9	0.87932	D	0	.	6.7893	0.23692	0.3779:0.0:0.0:0.6221	.	373	Q9UIE0	ZN230_HUMAN	C	373	ENSP00000409318:Y373C	ENSP00000409318:Y373C	Y	+	2	0	ZNF230	49207149	0.998000	0.40836	0.003000	0.11579	0.916000	0.54674	2.850000	0.48294	-0.228000	0.09869	0.172000	0.16884	TAC		PASS	0.458	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			10	45	10	45	---	---	---	---
SIGLEC12	89858	broad.mit.edu	37	19	52001375	52001375	+	Silent	SNP	A	A	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr19:52001375A>T	ENST00000291707.3	-	5	1357	c.1302T>A	c.(1300-1302)ccT>ccA	p.P434P	SIGLEC12_ENST00000598614.1_Silent_p.P316P	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	434	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.P434P(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CATGCACTCGAGGCAGCTCCA	0.607																																						uc002pwx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(1300-1302)CCT>CCA		sialic acid binding immunoglobulin-like							54.0	52.0	53.0					19																	52001375		2203	4300	6503	SO:0001819	synonymous_variant	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52001375A>T	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""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"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1302T>A	19.37:g.52001375A>T						SIGLEC12_uc002pww.1_Silent_p.P316P|SIGLEC12_uc010eoy.1_Silent_p.P161P	p.P434P	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	5	1358	-		all_neural(266;0.0199)	434			Ig-like C2-type 2.|Extracellular (Potential).		Q8IYH7	Silent	SNP	ENST00000291707.3	37	c.1302T>A	CCDS12833.1																																																																																				PASS	0.607	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		3	25	3	25	---	---	---	---
LENG8	114823	broad.mit.edu	37	19	54963896	54963896	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr19:54963896A>G	ENST00000326764.5	+	4	759	c.280A>G	c.(280-282)Aac>Gac	p.N94D	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	0	Tyr-rich.							p.N94D(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CCAGCAGTACAACTATGCCTA	0.602																																						uc002qfv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(280-282)AAC>GAC		RecName: Full=Leukocyte receptor cluster member 8;							167.0	129.0	142.0					19																	54963896		2203	4300	6503	SO:0001583	missense	114823						protein binding	g.chr19:54963896A>G	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.280A>G	19.37:g.54963896A>G	ENSP00000318374:p.Asn94Asp					LENG8_uc002qfw.2_Missense_Mutation_p.N94D	p.N94D			Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	4	424	+	Ovarian(34;0.19)		94			Tyr-rich.		B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	c.280A>G	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	A	16.96	3.267250	0.59540	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000439657;ENST00000376526;ENST00000431846	T;T;T;T	0.52295	1.15;0.67;1.38;1.04	4.76	4.76	0.60689	.	0.233447	0.43416	D	0.000578	T	0.41282	0.1152	L	0.50333	1.59	0.80722	D	1	B;B	0.33238	0.073;0.403	B;B	0.30855	0.121;0.088	T	0.36939	-0.9727	10	0.41790	T	0.15	-28.3309	12.5427	0.56182	1.0:0.0:0.0:0.0	.	94;94	Q96PV6-2;F8W9Q9	.;.	D	94	ENSP00000318374:N94D;ENSP00000399507:N94D;ENSP00000365709:N94D;ENSP00000388053:N94D	ENSP00000301196:N94D	N	+	1	0	LENG8	59655708	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	5.294000	0.65687	1.924000	0.55735	0.459000	0.35465	AAC		PASS	0.602	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		9	59	9	59	---	---	---	---
ZNF584	201514	broad.mit.edu	37	19	58926981	58926981	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr19:58926981G>T	ENST00000306910.4	+	3	783	c.260G>T	c.(259-261)aGc>aTc	p.S87I	ZNF584_ENST00000596281.1_3'UTR|ZNF584_ENST00000322834.7_Missense_Mutation_p.S79I|CTD-2619J13.16_ENST00000596296.1_lincRNA|ZNF584_ENST00000593920.1_Missense_Mutation_p.S42I|ZNF584_ENST00000599238.1_Missense_Mutation_p.S42I|ZNF584_ENST00000596921.1_3'UTR	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	87	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.S87I(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		ACTCCAGTCAGCAGAGCAGAA	0.552																																						uc002qsp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(259-261)AGC>ATC		zinc finger protein 584							128.0	107.0	114.0					19																	58926981		2203	4300	6503	SO:0001583	missense	201514				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58926981G>T	AK097218	CCDS12979.1	19q13.43	2013-01-08			ENSG00000171574	ENSG00000171574		"""Zinc fingers, C2H2-type"", ""-"""	27318	protein-coding gene	gene with protein product							Standard	NM_173548		Approved	FLJ39899	uc002qsp.3	Q8IVC4		ENST00000306910.4:c.260G>T	19.37:g.58926981G>T	ENSP00000306756:p.Ser87Ile					ZNF584_uc010yia.1_RNA|ZNF584_uc002qsr.2_Missense_Mutation_p.S42I|ZNF584_uc010yib.1_Missense_Mutation_p.S79I	p.S87I	NM_173548	NP_775819	Q8IVC4	ZN584_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)	3	712	+		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	87			KRAB.		A8K203	Missense_Mutation	SNP	ENST00000306910.4	37	c.260G>T	CCDS12979.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764170	0.31228	.	.	ENSG00000171574	ENST00000306910;ENST00000322834	T;T	0.06849	3.25;5.19	3.09	1.98	0.26296	Krueppel-associated box (1);	.	.	.	.	T	0.08935	0.0221	L	0.38175	1.15	0.24278	N	0.995215	B;D	0.54207	0.232;0.965	B;P	0.48598	0.113;0.583	T	0.29761	-1.0001	9	0.19590	T	0.45	.	7.8722	0.29573	0.0:0.2575:0.7425:0.0	.	79;87	F6W0P0;Q8IVC4	.;ZN584_HUMAN	I	87;79	ENSP00000306756:S87I;ENSP00000320731:S79I	ENSP00000306756:S87I	S	+	2	0	ZNF584	63618793	0.003000	0.15002	0.767000	0.31495	0.025000	0.11179	0.256000	0.18351	0.608000	0.30000	0.484000	0.47621	AGC		PASS	0.552	ZNF584-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467022.1	NM_173548		3	38	3	38	---	---	---	---
TRIB3	57761	broad.mit.edu	37	20	368895	368895	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr20:368895C>T	ENST00000217233.3	+	2	794	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	TRIB3_ENST00000422053.2_Missense_Mutation_p.R108W	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	81	Interaction with DDIT3/CHOP.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)	p.R81W(1)		breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GGAGGGCGGGCGGGCCTACCA	0.667																																					Melanoma(101;421 2374 19538)	uc002wdm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(241-243)CGG>TGG		tribbles 3							37.0	39.0	38.0					20																	368895		2203	4299	6502	SO:0001583	missense	57761				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr20:368895C>T	AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"""chromosome 20 open reading frame 97"", ""tribbles homolog 3 (Drosophila)"""	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.241C>T	20.37:g.368895C>T	ENSP00000217233:p.Arg81Trp					TRIB3_uc002wdn.2_Missense_Mutation_p.R108W	p.R81W	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)	2	747	+		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)	81			Protein kinase.		Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Missense_Mutation	SNP	ENST00000217233.3	37	c.241C>T	CCDS12997.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432889	0.43224	.	.	ENSG00000101255	ENST00000217233;ENST00000449710;ENST00000422053	T;T;T	0.20881	2.04;2.09;2.04	4.49	2.35	0.29111	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.592033	0.12998	N	0.421918	T	0.33381	0.0861	M	0.64997	1.995	0.09310	N	1	D;D	0.76494	0.998;0.999	P;P	0.57846	0.828;0.825	T	0.07986	-1.0744	10	0.72032	D	0.01	-10.6178	6.4058	0.21664	0.1927:0.6968:0.0:0.1105	.	108;81	B4DMM9;Q96RU7	.;TRIB3_HUMAN	W	81;81;108	ENSP00000217233:R81W;ENSP00000391873:R81W;ENSP00000415416:R108W	ENSP00000217233:R81W	R	+	1	2	TRIB3	316895	0.000000	0.05858	0.289000	0.24876	0.301000	0.27625	0.189000	0.17037	1.073000	0.40885	0.561000	0.74099	CGG		PASS	0.667	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	NM_021158		4	55	4	55	---	---	---	---
RALGAPA2	57186	broad.mit.edu	37	20	20592039	20592039	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr20:20592039T>C	ENST00000202677.7	-	14	1727	c.1720A>G	c.(1720-1722)Aca>Gca	p.T574A		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	574					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.T574A(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ACAGCTTCTGTTATCCTGAGT	0.378																																						uc002wrz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1720-1722)ACA>GCA		akt substrate AS250							237.0	226.0	230.0					20																	20592039		1855	4094	5949	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20592039T>C	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.1720A>G	20.37:g.20592039T>C	ENSP00000202677:p.Thr574Ala					RALGAPA2_uc010gcx.2_Missense_Mutation_p.T278A|RALGAPA2_uc010zsg.1_Intron	p.T574A	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			14	1863	-			574					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.1720A>G	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.230824	0.79688	.	.	ENSG00000188559	ENST00000202677	T	0.80393	-1.37	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.89469	0.6724	M	0.87180	2.865	0.51767	D	0.999937	D	0.69078	0.997	P	0.61397	0.888	D	0.91325	0.5085	10	0.66056	D	0.02	.	14.6313	0.68657	0.0:0.0:0.0:1.0	.	574	Q2PPJ7	RGPA2_HUMAN	A	574	ENSP00000202677:T574A	ENSP00000202677:T574A	T	-	1	0	RALGAPA2	20540039	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.294000	0.78760	1.849000	0.53698	0.383000	0.25322	ACA		PASS	0.378	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		20	178	20	178	---	---	---	---
CTSZ	1522	broad.mit.edu	37	20	57581519	57581519	+	Silent	SNP	C	C	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr20:57581519C>T	ENST00000217131.5	-	2	283	c.165G>A	c.(163-165)gaG>gaA	p.E55E		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	55					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)	p.E55E(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			GGGACAGGTACTCATGAGGCC	0.637																																						uc002yai.2																			1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(163-165)GAG>GAA		cathepsin Z preproprotein							87.0	74.0	78.0					20																	57581519		2203	4300	6503	SO:0001819	synonymous_variant	1522				proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity	g.chr20:57581519C>T	AF032906	CCDS13474.1	20q13.32	2012-02-10			ENSG00000101160	ENSG00000101160		"""Cathepsins"""	2547	protein-coding gene	gene with protein product	"""cathepsin X"", ""carboxypeptidase LB"", ""cathepsin IV"", ""cathepsin B2"", ""cathepsin Y"", ""cathepsin Z1"", ""cysteine-type carboxypeptidase"", ""lysosomal carboxypeptidase B"""	603169				9642240	Standard	NM_001336		Approved	CTSX	uc002yai.2	Q9UBR2	OTTHUMG00000032858	ENST00000217131.5:c.165G>A	20.37:g.57581519C>T						CTSZ_uc002yaj.3_Silent_p.E55E	p.E55E	NM_001336	NP_001327	Q9UBR2	CATZ_HUMAN	Colorectal(105;0.109)		2	291	-	all_lung(29;0.00711)		55					B2RC40|O75331|Q9UQV5|Q9UQV6	Silent	SNP	ENST00000217131.5	37	c.165G>A	CCDS13474.1																																																																																				PASS	0.637	CTSZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079899.1	NM_001336		3	38	3	38	---	---	---	---
KRTAP22-1	337979	broad.mit.edu	37	21	31973550	31973550	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr21:31973550G>T	ENST00000334680.2	+	1	137	c.111G>T	c.(109-111)tgG>tgT	p.W37C	KRTAP6-2_ENST00000334897.3_5'Flank	NM_181620.1	NP_853651.1	Q3MIV0	KR221_HUMAN	keratin associated protein 22-1	37						intermediate filament (GO:0005882)		p.W37C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	8						ACTGCCCATGGTGTTATGAAA	0.478																																						uc011add.1																			1	Substitution - Missense(1)		lung(1)		0						c.(109-111)TGG>TGT		keratin associated protein 22-1							228.0	206.0	214.0					21																	31973550		2203	4300	6503	SO:0001583	missense	337979					intermediate filament		g.chr21:31973550G>T	AP001708	CCDS13601.1	21q22.1	2011-02-10			ENSG00000186924	ENSG00000186924		"""Keratin associated proteins"""	18947	protein-coding gene	gene with protein product						12359730	Standard	NM_181620		Approved	KAP22.1	uc011add.2	Q3MIV0	OTTHUMG00000057778	ENST00000334680.2:c.111G>T	21.37:g.31973550G>T	ENSP00000333887:p.Trp37Cys					KRTAP6-2_uc011adc.1_5'Flank	p.W37C	NM_181620	NP_853651	Q3MIV0	KR221_HUMAN			1	111	+			37						Missense_Mutation	SNP	ENST00000334680.2	37	c.111G>T	CCDS13601.1	.	.	.	.	.	.	.	.	.	.	G	9.694	1.152640	0.21371	.	.	ENSG00000186924	ENST00000334680	T	0.30981	1.51	4.97	-3.63	0.04529	.	.	.	.	.	T	0.16769	0.0403	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30534	-0.9975	8	0.87932	D	0	.	1.5935	0.02659	0.1203:0.23:0.2528:0.3969	.	37	Q3MIV0	KR221_HUMAN	C	37	ENSP00000333887:W37C	ENSP00000333887:W37C	W	+	3	0	KRTAP22-1	30895421	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.057000	0.03486	-0.644000	0.05465	-0.165000	0.13383	TGG		PASS	0.478	KRTAP22-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128230.2			12	139	12	139	---	---	---	---
KRTAP10-6	386674	broad.mit.edu	37	21	46011355	46011355	+	Silent	SNP	C	C	T	rs587720065		TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr21:46011355C>T	ENST00000400368.1	-	1	1031	c.1011G>A	c.(1009-1011)acG>acA	p.T337T	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	337	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.T337T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CACAGGAGGCCGTGCGGCAGC	0.672													.|||	1	0.000199681	0.0	0.0	5008	,	,		18335	0.001		0.0	False		,,,				2504	0.0					uc002zfm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1009-1011)ACG>ACA		keratin associated protein 10-6							42.0	56.0	52.0					21																	46011355		2201	4300	6501	SO:0001819	synonymous_variant	386674					keratin filament		g.chr21:46011355C>T	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.1011G>A	21.37:g.46011355C>T						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.T337T	NM_198688	NP_941961	P60371	KR106_HUMAN			1	1032	-			337			29.|29 X 5 AA repeats of C-C-X(3).			Silent	SNP	ENST00000400368.1	37	c.1011G>A	CCDS42959.1																																																																																				PASS	0.672	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		5	48	5	48	---	---	---	---
RAC2	5880	broad.mit.edu	37	22	37627422	37627422	+	Silent	SNP	T	T	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr22:37627422T>C	ENST00000249071.6	-	5	418	c.297A>G	c.(295-297)ccA>ccG	p.P99P	RAC2_ENST00000406508.1_Silent_p.P55P|RAC2_ENST00000405484.1_Silent_p.P92P	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	99					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell projection assembly (GO:0030031)|G-protein coupled receptor signaling pathway (GO:0007186)|lymphocyte aggregation (GO:0071593)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|regulation of cell-substrate adhesion (GO:0010810)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of neutrophil migration (GO:1902622)|regulation of respiratory burst (GO:0060263)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.P99P(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12					Dextromethorphan(DB00514)	GCCGCACTTCTGGGAACCACT	0.622																																						uc003arc.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|central_nervous_system(1)|skin(1)	4						c.(295-297)CCA>CCG		ras-related C3 botulinum toxin substrate 2							65.0	59.0	61.0					22																	37627422		2203	4300	6503	SO:0001819	synonymous_variant	5880				axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr22:37627422T>C	M64595	CCDS13945.1	22q13.1	2014-09-17			ENSG00000128340	ENSG00000128340		"""Endogenous ligands"""	9802	protein-coding gene	gene with protein product		602049				2674130	Standard	NM_002872		Approved	EN-7	uc003arc.3	P15153	OTTHUMG00000150540	ENST00000249071.6:c.297A>G	22.37:g.37627422T>C							p.P99P	NM_002872	NP_002863	P15153	RAC2_HUMAN			5	414	-			99					Q9UDJ4	Silent	SNP	ENST00000249071.6	37	c.297A>G	CCDS13945.1																																																																																				PASS	0.622	RAC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318812.1			6	35	6	35	---	---	---	---
CACNA1I	8911	broad.mit.edu	37	22	39966962	39966962	+	Missense_Mutation	SNP	C	C	T	rs369813846		TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr22:39966962C>T	ENST00000402142.3	+	1	205	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	CACNA1I_ENST00000336649.4_Missense_Mutation_p.R69W|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R69W|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R69W|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R69W|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R69W	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	69					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.R69W(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CACCAGCCCCCGGAACTGGTG	0.637																																						uc003ayc.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(205-207)CGG>TGG		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	C	TRP/ARG,TRP/ARG	0,4154		0,0,2077	79.0	87.0	84.0		205,205	4.2	1.0	22		84	1,8385		0,1,4192	no	missense,missense	CACNA1I	NM_001003406.1,NM_021096.3	101,101	0,1,6269	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging,probably-damaging	69/2189,69/2224	39966962	1,12539	2077	4193	6270	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:39966962C>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.205C>T	22.37:g.39966962C>T	ENSP00000385019:p.Arg69Trp					CACNA1I_uc003ayd.2_Missense_Mutation_p.R69W	p.R69W	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			1	205	+	Melanoma(58;0.0749)		69			Cytoplasmic (Potential).|I.		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.205C>T	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633756	0.87660	0.0	1.19E-4	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98958	-5.21;-5.14;-5.27;-5.21;-4.97;-4.85	5.27	4.23	0.50019	.	1.251110	0.06054	N	0.657061	D	0.99165	0.9711	M	0.74467	2.265	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.95554	0.8623	10	0.87932	D	0	.	15.4874	0.75578	0.1397:0.8603:0.0:0.0	.	69;69	Q9P0X4-4;Q9P0X4	.;CAC1I_HUMAN	W	69	ENSP00000385019:R69W;ENSP00000384093:R69W;ENSP00000383887:R69W;ENSP00000385680:R69W;ENSP00000337829:R69W;ENSP00000383028:R69W	ENSP00000337829:R69W	R	+	1	2	CACNA1I	38296908	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.404000	0.66344	1.336000	0.45506	0.561000	0.74099	CGG		PASS	0.637	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		7	61	7	61	---	---	---	---
ENTHD1	150350	broad.mit.edu	37	22	40283671	40283671	+	Missense_Mutation	SNP	C	C	T	rs371281900		TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr22:40283671C>T	ENST00000325157.6	-	2	332	c.82G>A	c.(82-84)Gac>Aac	p.D28N		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	28	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.							p.D28N(1)|p.D28Y(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CCCCAAGGGTCGTTAGAAGTT	0.393																																						uc003ayg.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(82-84)GAC>AAC		ENTH domain containing 1		C	ASN/ASP	0,4406		0,0,2203	100.0	99.0	99.0		82	5.7	1.0	22		99	1,8599	1.2+/-3.3	0,1,4299	no	missense	ENTHD1	NM_152512.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	28/608	40283671	1,13005	2203	4300	6503	SO:0001583	missense	150350							g.chr22:40283671C>T	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.82G>A	22.37:g.40283671C>T	ENSP00000317431:p.Asp28Asn						p.D28N	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			2	333	-	Melanoma(58;0.0749)		28			ENTH.		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	c.82G>A	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857837	0.91433	0.0	1.16E-4	ENSG00000176177	ENST00000325157	T	0.52295	0.67	5.72	5.72	0.89469	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.000000	0.64402	D	0.000001	T	0.74321	0.3701	M	0.91196	3.185	0.54753	D	0.999986	D	0.89917	1.0	D	0.97110	1.0	T	0.79727	-0.1682	10	0.87932	D	0	-15.762	13.5518	0.61736	0.0:0.9197:0.0:0.0803	.	28	Q8IYW4	ENTD1_HUMAN	N	28	ENSP00000317431:D28N	ENSP00000317431:D28N	D	-	1	0	ENTHD1	38613617	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.256000	0.51492	2.703000	0.92315	0.655000	0.94253	GAC		PASS	0.393	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		11	73	11	73	---	---	---	---
WBP2NL	164684	broad.mit.edu	37	22	42423062	42423062	+	Silent	SNP	G	G	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chr22:42423062G>A	ENST00000328823.9	+	6	838	c.807G>A	c.(805-807)ccG>ccA	p.P269P	WBP2NL_ENST00000543212.1_Silent_p.P195P	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	269	Gly-rich.				egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)	p.P269P(1)		breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						ATGAAGGCCCGCCTGCGGGAT	0.592																																						uc011ape.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(805-807)CCG>CCA		WBP2 N-terminal like							95.0	113.0	107.0					22																	42423062		2203	4300	6503	SO:0001819	synonymous_variant	164684				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	g.chr22:42423062G>A	BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"""postacrosomal sheath WW domain-binding protein"""	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.807G>A	22.37:g.42423062G>A						WBP2NL_uc003bbt.2_Silent_p.P269P|WBP2NL_uc011apk.1_Silent_p.P141P|WBP2NL_uc003bbu.2_RNA|WBP2NL_uc003bbv.1_RNA	p.P269P	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN			7	823	+			269			Gly-rich.		A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Silent	SNP	ENST00000328823.9	37	c.807G>A	CCDS14029.1																																																																																				PASS	0.592	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	NM_152613		13	107	13	107	---	---	---	---
ARSH	347527	broad.mit.edu	37	X	2951310	2951310	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:2951310C>A	ENST00000381130.2	+	9	1573	c.1573C>A	c.(1573-1575)Cca>Aca	p.P525T		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	525					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.P525T(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AACACCTGTCCCACAGCAGTT	0.498																																						uc011mhj.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1573-1575)CCA>ACA		arylsulfatase family, member H							110.0	72.0	85.0					X																	2951310		2203	4300	6503	SO:0001583	missense	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2951310C>A	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.1573C>A	X.37:g.2951310C>A	ENSP00000370522:p.Pro525Thr						p.P525T	NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN			9	1573	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	525						Missense_Mutation	SNP	ENST00000381130.2	37	c.1573C>A	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	c	8.959	0.970176	0.18659	.	.	ENSG00000205667	ENST00000381130	D	0.90444	-2.67	3.24	3.24	0.37175	Alkaline-phosphatase-like, core domain (1);	0.335989	0.26007	U	0.026903	D	0.92100	0.7496	M	0.74647	2.275	0.09310	N	1	D	0.53885	0.963	P	0.51945	0.685	D	0.85591	0.1246	10	0.33141	T	0.24	.	14.1941	0.65659	0.0:1.0:0.0:0.0	.	525	Q5FYA8	ARSH_HUMAN	T	525	ENSP00000370522:P525T	ENSP00000370522:P525T	P	+	1	0	ARSH	2961310	0.107000	0.21998	0.099000	0.21106	0.092000	0.18411	1.735000	0.38176	1.395000	0.46643	0.513000	0.50165	CCA		PASS	0.498	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		5	24	5	24	---	---	---	---
WWC3	55841	broad.mit.edu	37	X	10085324	10085325	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:10085324_10085325CA>AG	ENST00000380861.4	+	11	1616_1617	c.1225_1226CA>AG	c.(1225-1227)CAg>AGg	p.Q409R	WWC3_ENST00000454666.1_Missense_Mutation_p.Q409R	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	409	Ser-rich.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.Q409R(2)|p.Q409K(1)		NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TGAGGGCAGCCAGCTTCTACGC	0.658																																						uc004csx.3																			3	Substitution - Missense(3)		lung(3)	ovary(4)	4						c.(1225-1227)CAG>AAG|c.(1225-1227)CAG>CGG		WWC family member 3																																				SO:0001583	missense	55841							g.chrX:10085324C>A|g.chrX:10085325A>G	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	Exception_encountered	X.37:g.10085324_10085325delinsAG	ENSP00000370242:p.Gln409Arg					WWC3_uc010nds.2_Missense_Mutation_p.Q73K|WWC3_uc010ndt.2_RNA|WWC3_uc010nds.2_Missense_Mutation_p.Q73R|WWC3_uc010ndt.2_RNA	p.Q409K|p.Q409R	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN			11	1423|1424	+			409			Ser-rich.		A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	c.1225C>A|c.1226A>G	CCDS14136.1																																																																																				PASS	0.658	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		6	89|88	6	88	---	---	---	---
TLR8	51311	broad.mit.edu	37	X	12939468	12939468	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:12939468A>G	ENST00000218032.6	+	2	2396	c.2309A>G	c.(2308-2310)cAc>cGc	p.H770R	TLR8_ENST00000311912.5_Missense_Mutation_p.H788R	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	770					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.H788R(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	TTGGAACTACACGGAAACCCC	0.403																																						uc004cve.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|large_intestine(1)	7						c.(2308-2310)CAC>CGC		toll-like receptor 8 precursor							99.0	87.0	91.0					X																	12939468		2203	4300	6503	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12939468A>G	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2309A>G	X.37:g.12939468A>G	ENSP00000218032:p.His770Arg					TLR8_uc004cvd.2_Missense_Mutation_p.H788R	p.H770R	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN			2	2377	+			770			Extracellular (Potential).		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.2309A>G	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	A	0.810	-0.752322	0.03041	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.56444	0.46;0.46	5.82	0.88	0.19161	.	1.126930	0.06905	N	0.806731	T	0.38719	0.1051	N	0.20445	0.575	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28427	-1.0044	10	0.38643	T	0.18	.	10.7652	0.46288	0.6892:0.0:0.3108:0.0	.	770;788	Q9NR97;D1CS70	TLR8_HUMAN;.	R	770;788	ENSP00000218032:H770R;ENSP00000312082:H788R	ENSP00000218032:H770R	H	+	2	0	TLR8	12849389	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.854000	0.27791	-0.264000	0.09365	0.486000	0.48141	CAC		PASS	0.403	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		14	75	14	75	---	---	---	---
CDKL5	6792	broad.mit.edu	37	X	18631345	18631345	+	Silent	SNP	G	G	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:18631345G>A	ENST00000379989.3	+	16	2511	c.2226G>A	c.(2224-2226)gaG>gaA	p.E742E	CDKL5_ENST00000379996.3_Silent_p.E742E|CDKL5_ENST00000463994.1_Intron	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	742				Missing (in Ref. 5; CAA61445). {ECO:0000305}.	neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.E742E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TACCATCAGAGAGCAGTTCTG	0.368																																						uc004cym.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6						c.(2224-2226)GAG>GAA		cyclin-dependent kinase-like 5							130.0	126.0	128.0					X																	18631345		2203	4300	6503	SO:0001819	synonymous_variant	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18631345G>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2226G>A	X.37:g.18631345G>A						CDKL5_uc004cyn.2_Silent_p.E742E	p.E742E	NM_003159	NP_003150	O76039	CDKL5_HUMAN			15	2479	+	Hepatocellular(33;0.183)		742	Missing (in Ref. 4; CAA61445).				G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Silent	SNP	ENST00000379989.3	37	c.2226G>A	CCDS14186.1																																																																																				PASS	0.368	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		12	96	12	96	---	---	---	---
PDHA1	5160	broad.mit.edu	37	X	19368197	19368197	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:19368197T>C	ENST00000422285.2	+	3	365	c.260T>C	c.(259-261)aTt>aCt	p.I87T	PDHA1_ENST00000540249.1_Missense_Mutation_p.I87T|PDHA1_ENST00000379806.5_Missense_Mutation_p.I125T|PDHA1_ENST00000379805.3_Missense_Mutation_p.I87T|PDHA1_ENST00000545074.1_Missense_Mutation_p.I87T			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	87					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)	p.I87T(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					CAGAAAATTATTCGTGGTTTC	0.443																																						uc004czg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(259-261)ATT>ACT		pyruvate dehydrogenase E1 alpha 1 precursor	NADH(DB00157)						278.0	227.0	244.0					X																	19368197		2203	4300	6503	SO:0001583	missense	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19368197T>C		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.260T>C	X.37:g.19368197T>C	ENSP00000394382:p.Ile87Thr					PDHA1_uc004czh.3_Missense_Mutation_p.I122T|PDHA1_uc011mjc.1_Missense_Mutation_p.I84T|PDHA1_uc011mjd.1_Missense_Mutation_p.I84T|PDHA1_uc010nfk.2_Missense_Mutation_p.I84T	p.I87T	NM_000284	NP_000275	P08559	ODPA_HUMAN			3	405	+	Hepatocellular(33;0.183)		87					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	c.260T>C	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.334613	0.81801	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000423505;ENST00000417819;ENST00000422285;ENST00000355808;ENST00000379815;ENST00000379805	D;D;D;D;D;D;D;D	0.99226	-3.82;-3.82;-4.36;-3.82;-5.59;-3.82;-3.82;-3.82	5.17	5.17	0.71159	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.99539	0.9835	M	0.93150	3.385	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;D;D;D	0.97110	0.994;1.0;0.999;1.0;0.999	D	0.98087	1.0407	10	0.87932	D	0	-6.6011	14.3155	0.66446	0.0:0.0:0.0:1.0	.	87;87;87;125;87	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	T	125;87;87;125;115;87;87;115;87	ENSP00000369134:I125T;ENSP00000438550:I87T;ENSP00000440761:I87T;ENSP00000406473:I125T;ENSP00000404616:I115T;ENSP00000394382:I87T;ENSP00000348062:I87T;ENSP00000369133:I87T	ENSP00000348062:I87T	I	+	2	0	PDHA1	19278118	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.582000	0.82546	1.828000	0.53243	0.486000	0.48141	ATT		PASS	0.443	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			12	113	12	113	---	---	---	---
FTHL17	53940	broad.mit.edu	37	X	31090069	31090069	+	Start_Codon_SNP	SNP	A	A	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:31090069A>G	ENST00000359202.3	-	1	101	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	1					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)	p.M1T(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GGCGGTGGCCATGGCGGGCAG	0.647													A|||	1	0.000264901	0.0008	0.0	3775	,	,		8842	0.0		0.0	False		,,,				2504	0.0					uc004dcl.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1-3)ATG>ACG		ferritin, heavy polypeptide-like 17							30.0	26.0	27.0					X																	31090069		2180	4251	6431	SO:0001582	initiator_codon_variant	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31090069A>G	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.2T>C	X.37:g.31090069A>G	ENSP00000368207:p.Met1Thr						p.M1T	NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN			1	105	-			1					Q6NT24|Q6NTE2	Missense_Mutation	SNP	ENST00000359202.3	37	c.2T>C	CCDS14227.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.614973	0.46631	.	.	ENSG00000132446	ENST00000359202	T	0.63744	-0.06	3.42	3.42	0.39159	.	.	.	.	.	T	0.70133	0.3189	.	.	.	0.80722	D	1	D	0.69078	0.997	P	0.60789	0.879	T	0.71826	-0.4475	8	0.87932	D	0	.	5.3495	0.16028	0.7437:0.0:0.0:0.2563	.	1	Q9BXU8	FHL17_HUMAN	T	1	ENSP00000368207:M1T	ENSP00000368207:M1T	M	-	2	0	FTHL17	30999990	0.311000	0.24536	0.009000	0.14445	0.105000	0.19272	0.327000	0.19663	1.584000	0.49913	0.437000	0.28790	ATG		PASS	0.647	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894	Missense_Mutation	4	33	4	33	---	---	---	---
CYBB	1536	broad.mit.edu	37	X	37670075	37670075	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:37670075G>T	ENST00000378588.4	+	13	1685	c.1618G>T	c.(1618-1620)Gaa>Taa	p.E540*	CYBB_ENST00000545017.1_Nonsense_Mutation_p.E508*|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Nonsense_Mutation_p.E273*	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	540					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)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)	p.E540*(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	CTGTGGACCTGAAGCCTTGGC	0.423																																						uc004ddr.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1618-1620)GAA>TAA		cytochrome b-245 beta polypeptide							67.0	62.0	64.0					X																	37670075		2202	4300	6502	SO:0001587	stop_gained	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37670075G>T	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1618G>T	X.37:g.37670075G>T	ENSP00000367851:p.Glu540*					CYBB_uc011mkf.1_Nonsense_Mutation_p.E508*|CYBB_uc011mkg.1_Nonsense_Mutation_p.E273*	p.E540*	NM_000397	NP_000388	P04839	CY24B_HUMAN			13	1679	+			540			Cytoplasmic (Potential).		A8K138|Q2PP16	Nonsense_Mutation	SNP	ENST00000378588.4	37	c.1618G>T	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	G	40	7.937718	0.98571	.	.	ENSG00000165168	ENST00000378588;ENST00000545017;ENST00000536160	.	.	.	5.56	5.56	0.83823	.	0.144445	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	18.5566	0.91088	0.0:0.0:1.0:0.0	.	.	.	.	X	540;508;273	.	ENSP00000367851:E540X	E	+	1	0	CYBB	37555019	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.069000	0.64370	2.324000	0.78689	0.544000	0.68410	GAA		PASS	0.423	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			4	55	4	55	---	---	---	---
BCOR	54880	broad.mit.edu	37	X	39933922	39933922	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:39933922G>A	ENST00000378444.4	-	4	905	c.677C>T	c.(676-678)tCc>tTc	p.S226F	BCOR_ENST00000342274.4_Missense_Mutation_p.S226F|BCOR_ENST00000397354.3_Missense_Mutation_p.S226F|BCOR_ENST00000378455.4_Missense_Mutation_p.S226F	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	226					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S226F(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CAAGCTGTAGGACTGCTGAGG	0.557			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.3				Rec	yes		X	Xp11.4	54880		BCL6 corepressor	yes							1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(676-678)TCC>TTC		BCL-6 interacting corepressor isoform c							95.0	70.0	79.0					X																	39933922		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39933922G>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.677C>T	X.37:g.39933922G>A	ENSP00000367705:p.Ser226Phe					BCOR_uc004dep.3_Missense_Mutation_p.S226F|BCOR_uc004deo.3_Missense_Mutation_p.S226F|BCOR_uc004dem.3_Missense_Mutation_p.S226F|BCOR_uc004deq.3_Missense_Mutation_p.S226F	p.S226F	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			4	969	-			226					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.677C>T	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729023	0.69074	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.38	5.38	0.77491	.	.	.	.	.	T	0.75583	0.3869	L	0.32530	0.975	0.50171	D	0.999851	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.87578	0.998;0.998;0.996;0.998	T	0.78750	-0.2082	9	0.87932	D	0	-22.3268	18.2536	0.90012	0.0:0.0:1.0:0.0	.	226;226;226;226	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	F	226	ENSP00000367716:S226F;ENSP00000380512:S226F;ENSP00000367705:S226F;ENSP00000345923:S226F;ENSP00000384485:S226F	ENSP00000345923:S226F	S	-	2	0	BCOR	39818866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.509000	0.81698	2.249000	0.74217	0.600000	0.82982	TCC		PASS	0.557	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		6	56	6	56	---	---	---	---
PFKFB1	5207	broad.mit.edu	37	X	54975507	54975507	+	Splice_Site	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:54975507C>A	ENST00000375006.3	-	9	1064		c.e9+1		PFKFB1_ENST00000545676.1_Splice_Site|PFKFB1_ENST00000374992.2_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1						carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)	p.?(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						ATGCATCTCACCGCATCAATC	0.562																																						uc004dty.1																			2	Unknown(2)		lung(2)	ovary(1)	1						c.e9+1		6-phosphofructo-2-kinase/fructose-2,							149.0	107.0	121.0					X																	54975507		2203	4300	6503	SO:0001630	splice_region_variant	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54975507C>A		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.993+1G>T	X.37:g.54975507C>A						PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Splice_Site_p.A266_splice	p.A331_splice	NM_002625	NP_002616	P16118	F261_HUMAN			9	1064	-								B2RA88|B4DUN5|Q5JXS5|Q99951	Splice_Site	SNP	ENST00000375006.3	37	c.993_splice	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	c	18.98	3.737126	0.69304	.	.	ENSG00000158571	ENST00000375006;ENST00000545676	.	.	.	4.13	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1413	0.72612	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PFKFB1	54992232	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.569000	0.82380	2.011000	0.59026	0.431000	0.28591	.		PASS	0.562	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1		Intron	6	44	6	44	---	---	---	---
PAGE5	90737	broad.mit.edu	37	X	55249059	55249059	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:55249059G>C	ENST00000289619.5	+	4	501	c.256G>C	c.(256-258)Gat>Cat	p.D86H	PAGE5_ENST00000374955.3_Missense_Mutation_p.D66H|PAGE5_ENST00000374952.1_Missense_Mutation_p.D49H	NM_130467.3	NP_569734.2	Q96GU1	PAGE5_HUMAN	P antigen family, member 5 (prostate associated)	86								p.D86H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						TTAAGGGACTGATGTGGAAGC	0.398																																						uc004duj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(256-258)GAT>CAT		P antigen family, member 5 isoform 1							135.0	116.0	123.0					X																	55249059		2203	4300	6503	SO:0001583	missense	90737							g.chrX:55249059G>C	AJ344352	CCDS14368.1, CCDS35306.1	Xp11.22	2009-08-18			ENSG00000158639	ENSG00000158639			29992	protein-coding gene	gene with protein product	"""cancer/testis antigen family 16, member 1"", ""cancer/testis antigen family 16, member 2"""					11920606, 11992404	Standard	XM_006724613		Approved	PAGE-5, CT16.1, CT16.2	uc004duk.3	Q96GU1	OTTHUMG00000021650	ENST00000289619.5:c.256G>C	X.37:g.55249059G>C	ENSP00000289619:p.Asp86His					PAGE5_uc004duk.2_Missense_Mutation_p.D66H	p.D86H	NM_130467	NP_569734	Q96GU1	GGEE1_HUMAN			4	498	+			86					Q2NL97|Q5JUL0|Q8WWL9	Missense_Mutation	SNP	ENST00000289619.5	37	c.256G>C	CCDS14368.1	.	.	.	.	.	.	.	.	.	.	.	9.538	1.112519	0.20795	.	.	ENSG00000158639	ENST00000289619;ENST00000374955;ENST00000374952	T;T;T	0.11712	2.75;2.75;2.75	1.44	0.541	0.17168	.	.	.	.	.	T	0.26846	0.0657	M	0.77820	2.39	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.08785	-1.0705	9	0.62326	D	0.03	.	3.526	0.07760	0.2736:0.0:0.7264:0.0	.	86	Q96GU1	GGEE1_HUMAN	H	86;66;49	ENSP00000289619:D86H;ENSP00000364093:D66H;ENSP00000364090:D49H	ENSP00000289619:D86H	D	+	1	0	PAGE5	55265784	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.302000	0.19192	0.104000	0.17725	0.502000	0.49764	GAT		PASS	0.398	PAGE5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056861.1	NM_130467		10	100	10	100	---	---	---	---
MAGEH1	28986	broad.mit.edu	37	X	55479403	55479403	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:55479403C>G	ENST00000342972.1	+	1	866	c.596C>G	c.(595-597)tCg>tGg	p.S199W	hsa-mir-4536-2_ENST00000583537.1_RNA	NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	199					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)		p.S199*(1)|p.S199W(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						GACTGGGATTCGGACGATGAT	0.493																																						uc004dum.2																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(595-597)TCG>TGG		melanoma antigen, family H, 1 protein							95.0	89.0	91.0					X																	55479403		2203	4300	6503	SO:0001583	missense	28986				apoptosis			g.chrX:55479403C>G	AF320912	CCDS14369.1	Xp11.22	2008-02-05			ENSG00000187601	ENSG00000187601			24092	protein-coding gene	gene with protein product		300548				12414813, 9485030	Standard	NM_014061		Approved	APR1	uc004dum.3	Q9H213	OTTHUMG00000021655	ENST00000342972.1:c.596C>G	X.37:g.55479403C>G	ENSP00000343706:p.Ser199Trp						p.S199W	NM_014061	NP_054780	Q9H213	MAGH1_HUMAN			1	866	+			199					B2R8V9|Q5JRJ3|Q9Y5M2	Missense_Mutation	SNP	ENST00000342972.1	37	c.596C>G	CCDS14369.1	.	.	.	.	.	.	.	.	.	.	.	6.189	0.403011	0.11696	.	.	ENSG00000187601	ENST00000342972	T	0.15718	2.4	3.52	0.802	0.18686	.	0.000000	0.29159	N	0.012965	T	0.07279	0.0184	N	0.08118	0	0.09310	N	0.999999	B	0.15719	0.014	B	0.11329	0.006	T	0.25433	-1.0132	10	0.54805	T	0.06	2.6903	5.3551	0.16057	0.0:0.5977:0.0:0.4023	.	199	Q9H213	MAGH1_HUMAN	W	199	ENSP00000343706:S199W	ENSP00000343706:S199W	S	+	2	0	MAGEH1	55496128	0.845000	0.29573	0.012000	0.15200	0.002000	0.02628	1.329000	0.33770	0.046000	0.15833	-0.202000	0.12741	TCG		PASS	0.493	MAGEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056868.1	NM_014061		14	56	14	56	---	---	---	---
TAF1	6872	broad.mit.edu	37	X	70674030	70674030	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:70674030T>A	ENST00000373790.4	+	33	4812	c.4761T>A	c.(4759-4761)agT>agA	p.S1587R	TAF1_ENST00000276072.3_Missense_Mutation_p.S1608R|TAF1_ENST00000423759.1_Missense_Mutation_p.S1608R|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000449580.1_Missense_Mutation_p.S1587R	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1587	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.|Interaction with ASF1A and ASF1B.|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.S1608R(1)|p.S1587R(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GACCTGAGAGTCAGTATACTA	0.423																																						uc004dzu.3																			2	Substitution - Missense(2)		lung(2)	ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(4759-4761)AGT>AGA		TBP-associated factor 1 isoform 2							82.0	72.0	76.0					X																	70674030		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70674030T>A		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4761T>A	X.37:g.70674030T>A	ENSP00000362895:p.Ser1587Arg					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.S1608R|TAF1_uc004dzv.3_Missense_Mutation_p.S761R|TAF1_uc010nld.1_RNA|TAF1_uc010nle.1_RNA|TAF1_uc010nlf.1_Missense_Mutation_p.S12R|TAF1_uc004dzx.2_RNA|TAF1_uc004dzy.2_RNA|TAF1_uc004dzw.1_RNA	p.S1587R	NM_138923	NP_620278	P21675	TAF1_HUMAN			33	4812	+	Renal(35;0.156)	all_lung(315;0.000321)	1587	PESQYTK -> YMCTTCR (in Ref. 6; CAD87528).		Interaction with ASF1A and ASF1B.|Bromo 2.|Protein kinase 2.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.4761T>A	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.27|17.27	3.346634|3.346634	0.61073|0.61073	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000276072|ENST00000437147	T;T;T;T|.	0.55760|.	0.5;0.5;0.5;0.5|.	4.84|4.84	4.84|4.84	0.62591|0.62591	Bromodomain (6);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77955|0.77955	0.4208|0.4208	M|M	0.90483|0.90483	3.12|3.12	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.83275|.	0.996;0.995;0.996;0.982|.	T|T	0.81132|0.81132	-0.1072|-0.1072	10|5	0.87932|.	D|.	0|.	.|.	9.0461|9.0461	0.36347|0.36347	0.0:0.0907:0.0:0.9093|0.0:0.0907:0.0:0.9093	.|.	241;1587;1587;1608|.	A5CVC9;P21675-4;P21675;P21675-2|.	.;.;TAF1_HUMAN;.|.	R|D	1587;1587;1608;293;1608|242	ENSP00000362895:S1587R;ENSP00000389000:S1587R;ENSP00000406549:S1608R;ENSP00000276072:S1608R|.	ENSP00000276072:S1608R|.	S|V	+|+	3|2	2|0	TAF1|TAF1	70590755|70590755	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.747000|0.747000	0.42532|0.42532	3.899000|3.899000	0.56288|0.56288	1.789000|1.789000	0.52484|0.52484	0.345000|0.345000	0.21793|0.21793	AGT|GTC		PASS	0.423	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		4	37	4	37	---	---	---	---
ATP7A	538	broad.mit.edu	37	X	77254002	77254002	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:77254002C>A	ENST00000341514.6	+	5	1519	c.1364C>A	c.(1363-1365)gCt>gAt	p.A455D	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.A455D	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	455					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)	p.A455D(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GTAGTAATAGCTCAGCCTTCA	0.393																																						uc004ecx.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1363-1365)GCT>GAT		ATPase, Cu++ transporting, alpha polypeptide							165.0	153.0	157.0					X																	77254002		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77254002C>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1364C>A	X.37:g.77254002C>A	ENSP00000345728:p.Ala455Asp					ATP7A_uc004ecw.2_Missense_Mutation_p.A455D	p.A455D	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			5	1524	+			455			Cytoplasmic (Potential).		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.1364C>A	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	C	5.645	0.303708	0.10678	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.96334	-3.97;-3.98	5.23	2.41	0.29592	.	0.922675	0.09301	N	0.820987	D	0.90899	0.7140	N	0.19112	0.55	0.80722	D	1	B;B	0.31581	0.043;0.329	B;B	0.32583	0.017;0.148	T	0.81404	-0.0948	10	0.13853	T	0.58	-15.9813	8.8004	0.34905	0.0:0.7283:0.1232:0.1485	.	455;465	Q04656;Q59HD1	ATP7A_HUMAN;.	D	455;455;465	ENSP00000343026:A455D;ENSP00000345728:A455D	ENSP00000345728:A455D	A	+	2	0	ATP7A	77140658	1.000000	0.71417	0.996000	0.52242	0.178000	0.23041	1.389000	0.34453	0.505000	0.28104	-0.208000	0.12717	GCT		PASS	0.393	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		11	98	11	98	---	---	---	---
PGK1	5230	broad.mit.edu	37	X	77359903	77359903	+	Splice_Site	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:77359903G>T	ENST00000373316.4	+	1	232		c.e1+1		PGK1_ENST00000537456.1_5'Flank|PGK1_ENST00000442431.1_Splice_Site	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1						carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.?(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	TCGTTATGAGGTAATTCTGCA	0.507																																						uc004ecz.3																			1	Unknown(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.e1+1		phosphoglycerate kinase 1							115.0	71.0	86.0					X																	77359903		2203	4296	6499	SO:0001630	splice_region_variant	5230				gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chrX:77359903G>T	L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.65+1G>T	X.37:g.77359903G>T						PGK1_uc010nlz.2_Splice_Site|PGK1_uc011mqq.1_5'Flank	p.R22_splice	NM_000291	NP_000282	P00558	PGK1_HUMAN			1	237	+								A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Splice_Site	SNP	ENST00000373316.4	37	c.65_splice	CCDS14438.1	.	.	.	.	.	.	.	.	.	.	g	22.0	4.224966	0.79576	.	.	ENSG00000102144	ENST00000373316;ENST00000442431	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0198	0.80473	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PGK1	77246559	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	8.287000	0.89918	2.236000	0.73375	0.597000	0.82753	.		PASS	0.507	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1		Intron	4	24	4	24	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91133650	91133650	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:91133650C>A	ENST00000373094.1	+	2	3256	c.2411C>A	c.(2410-2412)tCc>tAc	p.S804Y	PCDH11X_ENST00000395337.2_Missense_Mutation_p.S804Y|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S804Y|PCDH11X_ENST00000504220.2_Missense_Mutation_p.S804Y|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S804Y|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S804Y|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S804Y|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S804Y|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S804Y	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	804					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S804Y(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCTGATGTATCCTCACCAACT	0.453																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(2410-2412)TCC>TAC		protocadherin 11 X-linked isoform c							93.0	77.0	83.0					X																	91133650		2202	4297	6499	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133650C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2411C>A	X.37:g.91133650C>A	ENSP00000362186:p.Ser804Tyr					PCDH11X_uc004efl.1_Missense_Mutation_p.S804Y|PCDH11X_uc004efo.1_Missense_Mutation_p.S804Y|PCDH11X_uc010nmv.1_Missense_Mutation_p.S804Y|PCDH11X_uc004efm.1_Missense_Mutation_p.S804Y|PCDH11X_uc004efn.1_Missense_Mutation_p.S804Y|PCDH11X_uc004efh.1_Missense_Mutation_p.S804Y|PCDH11X_uc004efj.1_Missense_Mutation_p.S804Y	p.S804Y	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3256	+			804			Extracellular (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2411C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.653729	0.00779	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.15	3.31	0.37934	Protocadherin (1);	0.168412	0.51477	D	0.000100	T	0.30417	0.0764	L	0.32530	0.975	0.28834	N	0.89695	P;P;P;P;P;P;P;P	0.51933	0.937;0.937;0.937;0.937;0.937;0.949;0.937;0.937	P;P;P;P;P;P;P;P	0.59761	0.785;0.709;0.785;0.785;0.785;0.863;0.785;0.785	T	0.11251	-1.0595	10	0.02654	T	1	.	8.4995	0.33150	0.1514:0.7655:0.0:0.0831	.	804;804;804;804;804;804;804;804	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	Y	804	ENSP00000378746:S804Y;ENSP00000362186:S804Y;ENSP00000362189:S804Y;ENSP00000355040:S804Y;ENSP00000362180:S804Y;ENSP00000423762:S804Y;ENSP00000355105:S804Y;ENSP00000384758:S804Y;ENSP00000298274:S804Y	ENSP00000298274:S804Y	S	+	2	0	PCDH11X	91020306	0.990000	0.36364	0.967000	0.41034	0.078000	0.17371	2.446000	0.44908	0.947000	0.37659	0.594000	0.82650	TCC		PASS	0.453	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		9	69	9	69	---	---	---	---
DIAPH2	1730	broad.mit.edu	37	X	95993591	95993591	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:95993591C>T	ENST00000324765.8	+	3	519	c.172C>T	c.(172-174)Cga>Tga	p.R58*	DIAPH2_ENST00000373061.3_Nonsense_Mutation_p.R58*|DIAPH2_ENST00000355827.4_Nonsense_Mutation_p.R58*|DIAPH2_ENST00000373049.4_Nonsense_Mutation_p.R58*|DIAPH2_ENST00000373054.4_Nonsense_Mutation_p.R47*			O60879	DIAP2_HUMAN	diaphanous-related formin 2	58					actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.R58*(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GCAGCGTGACCGAATTACAAG	0.333																																						uc004efu.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|lung(1)	4						c.(172-174)CGA>TGA		diaphanous 2 isoform 156							32.0	32.0	32.0					X																	95993591		2202	4299	6501	SO:0001587	stop_gained	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:95993591C>T	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.172C>T	X.37:g.95993591C>T	ENSP00000321348:p.Arg58*					DIAPH2_uc004eft.3_Nonsense_Mutation_p.R58*|DIAPH2_uc004efs.2_Nonsense_Mutation_p.R58*	p.R58*	NM_006729	NP_006720	O60879	DIAP2_HUMAN			3	568	+			58					A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Nonsense_Mutation	SNP	ENST00000324765.8	37	c.172C>T	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	C	41	8.640005	0.98897	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	.	.	.	5.62	4.7	0.59300	.	0.000000	0.50627	D	0.000115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7693	0.46312	0.3891:0.6109:0.0:0.0	.	.	.	.	X	58;47;58;58;58;58	.	ENSP00000321348:R58X	R	+	1	2	DIAPH2	95880247	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.712000	0.61888	2.353000	0.79882	0.600000	0.82982	CGA		PASS	0.333	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		3	48	3	48	---	---	---	---
SRPX2	27286	broad.mit.edu	37	X	99920283	99920283	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:99920283G>T	ENST00000373004.3	+	6	1004	c.576G>T	c.(574-576)aaG>aaT	p.K192N		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	192	HYR. {ECO:0000255|PROSITE- ProRule:PRU00113}.				angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.K192N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CACGTGAGAAGATGGCAGAGC	0.527																																						uc004egb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(574-576)AAG>AAT		sushi-repeat-containing protein, X-linked 2							97.0	79.0	85.0					X																	99920283		2203	4300	6503	SO:0001583	missense	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99920283G>T	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.576G>T	X.37:g.99920283G>T	ENSP00000362095:p.Lys192Asn						p.K192N	NM_014467	NP_055282	O60687	SRPX2_HUMAN			6	1056	+			192			HYR.		B3KQT3|Q8WW85	Missense_Mutation	SNP	ENST00000373004.3	37	c.576G>T	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355534	0.61293	.	.	ENSG00000102359	ENST00000373004	T	0.24908	1.83	5.61	2.88	0.33553	Hyalin (2);	0.087720	0.85682	D	0.000000	T	0.30510	0.0767	L	0.43701	1.375	0.48571	D	0.999674	P	0.52577	0.954	P	0.57057	0.812	T	0.02983	-1.1086	9	.	.	.	-18.7471	5.5295	0.16976	0.3846:0.1304:0.485:0.0	.	192	O60687	SRPX2_HUMAN	N	192	ENSP00000362095:K192N	.	K	+	3	2	SRPX2	99806939	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.850000	0.27737	0.180000	0.19960	-0.297000	0.09499	AAG		PASS	0.527	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		3	13	3	13	---	---	---	---
SERPINA7	6906	broad.mit.edu	37	X	105280989	105280989	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:105280989C>A	ENST00000327674.4	-	1	396	c.61G>T	c.(61-63)Gca>Tca	p.A21S	SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Missense_Mutation_p.A21S			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	21					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A21S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TCAGGTGATGCACAGTGGATT	0.418																																						uc004eme.1																			1	Substitution - Missense(1)		lung(1)		0						c.(61-63)GCA>TCA		serine (or cysteine) proteinase inhibitor, clade	Levothyroxine(DB00451)|Liothyronine(DB00279)						125.0	109.0	115.0					X																	105280989		2203	4300	6503	SO:0001583	missense	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105280989C>A	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.61G>T	X.37:g.105280989C>A	ENSP00000329374:p.Ala21Ser					SERPINA7_uc010npd.2_Missense_Mutation_p.A21S|SERPINA7_uc010npe.1_Missense_Mutation_p.A21S	p.A21S	NM_000354	NP_000345	P05543	THBG_HUMAN			1	77	-			21					D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	37	c.61G>T	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.401479	0.01165	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.87412	-2.25;-2.25	4.87	1.56	0.23342	Serpin domain (1);	2.875700	0.00986	N	0.003447	T	0.72137	0.3423	N	0.08118	0	0.09310	N	1	B	0.21905	0.062	B	0.22386	0.039	T	0.64525	-0.6387	10	0.08179	T	0.78	.	3.3968	0.07308	0.1977:0.5617:0.0:0.2406	.	21	P05543	THBG_HUMAN	S	21	ENSP00000329374:A21S;ENSP00000361644:A21S	ENSP00000329374:A21S	A	-	1	0	SERPINA7	105167645	0.000000	0.05858	0.018000	0.16275	0.010000	0.07245	-0.432000	0.06956	0.438000	0.26450	0.596000	0.82720	GCA		PASS	0.418	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		16	88	16	88	---	---	---	---
TBC1D8B	54885	broad.mit.edu	37	X	106108822	106108822	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:106108822C>T	ENST00000357242.5	+	15	2560	c.2386C>T	c.(2386-2388)Ctt>Ttt	p.L796F	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.L790F	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	796							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.L796F(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAAATTGAGCCTTCAAGAATT	0.289																																						uc004emo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2386-2388)CTT>TTT		TBC1 domain family, member 8B (with GRAM domain)							93.0	85.0	88.0					X																	106108822		2201	4289	6490	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106108822C>T	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2386C>T	X.37:g.106108822C>T	ENSP00000349781:p.Leu796Phe					MORC4_uc004emp.3_Intron	p.L796F	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN			15	2551	+			796					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.2386C>T	CCDS14522.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.98|10.98	1.503092|1.503092	0.26949|0.26949	.|.	.|.	ENSG00000133138|ENSG00000133138	ENST00000357242;ENST00000276175;ENST00000394972|ENST00000431860	T;T|.	0.30981|.	1.51;1.51|.	5.49|5.49	5.49|5.49	0.81192|0.81192	EF-hand-like domain (1);|.	0.392015|.	0.26227|.	N|.	0.025584|.	T|T	0.54886|0.54886	0.1886|0.1886	L|L	0.50333|0.50333	1.59|1.59	0.28043|0.28043	N|N	0.933671|0.933671	D|.	0.57899|.	0.981|.	P|.	0.44860|.	0.462|.	T|T	0.51725|0.51725	-0.8669|-0.8669	10|5	0.33940|.	T|.	0.23|.	-15.4974|-15.4974	16.804|16.804	0.85621|0.85621	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	796|.	Q0IIM8|.	TBC8B_HUMAN|.	F|L	796;790;58|58	ENSP00000349781:L796F;ENSP00000276175:L790F|.	ENSP00000276175:L790F|.	L|P	+|+	1|2	0|0	TBC1D8B|TBC1D8B	105995478|105995478	0.913000|0.913000	0.31002|0.31002	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	1.628000|1.628000	0.37060|0.37060	2.279000|2.279000	0.76181|0.76181	0.506000|0.506000	0.49869|0.49869	CTT|CCT		PASS	0.289	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		7	61	7	61	---	---	---	---
PRPS1	5631	broad.mit.edu	37	X	106890869	106890870	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:106890869_106890870CA>AT	ENST00000372435.4	+	6	860_861	c.738_739CA>AT	c.(736-741)gcCAtc>gcATtc	p.I247F	PRPS1_ENST00000372428.4_Missense_Mutation_p.I180F|PRPS1_ENST00000543248.1_Missense_Mutation_p.I247F|PRPS1_ENST00000372418.1_Missense_Mutation_p.I147F	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	247					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|hypoxanthine biosynthetic process (GO:0046101)|nervous system development (GO:0007399)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|pyrimidine nucleotide biosynthetic process (GO:0006221)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|urate biosynthetic process (GO:0034418)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.I247F(2)|p.A246A(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						GAGTTTATGCCATCTTGACTCA	0.45																																						uc004ene.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	breast(3)|large_intestine(1)	4						c.(736-738)GCC>GCA|c.(739-741)ATC>TTC		phosphoribosyl pyrophosphate synthetase 1																																				SO:0001583	missense	5631				5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:106890869C>A|g.chrX:106890870A>T	X15331	CCDS14529.1, CCDS76007.1	Xq22.3	2014-09-17			ENSG00000147224	ENSG00000147224	2.7.6.1		9462	protein-coding gene	gene with protein product	"""PRS I"", ""ribose-phosphate diphosphokinase 1"""	311850	"""deafness, X-linked 2, perceptive, congenital"""	DFN2		1962753, 20021999	Standard	NM_002764		Approved	CMTX5, DFNX1	uc004ene.4	P60891	OTTHUMG00000022167	Exception_encountered	X.37:g.106890869_106890870delinsAT	ENSP00000361512:p.Ile247Phe					PRPS1_uc010npg.2_Silent_p.A213A|PRPS1_uc011msj.1_Silent_p.A42A|PRPS1_uc010npg.2_Missense_Mutation_p.I214F|PRPS1_uc011msj.1_Missense_Mutation_p.I43F	p.A246A|p.I247F	NM_002764	NP_002755	P60891	PRPS1_HUMAN			6	943|944	+			246|247					B1ALA8|B2R6T7|B4DNL6|D3DUX6|P09329	Silent|Missense_Mutation	SNP	ENST00000372435.4	37	c.738C>A|c.739A>T	CCDS14529.1																																																																																				PASS	0.450	PRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057840.1			8	107	8	107	---	---	---	---
RGAG1	57529	broad.mit.edu	37	X	109696544	109696544	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:109696544C>A	ENST00000465301.2	+	3	2945	c.2699C>A	c.(2698-2700)cCa>cAa	p.P900Q	RGAG1_ENST00000540313.1_Missense_Mutation_p.P900Q	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	900								p.P900Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GTGTCCTCACCACTAGTAAGA	0.537																																						uc004eor.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(2698-2700)CCA>CAA		retrotransposon gag domain containing 1							99.0	102.0	101.0					X																	109696544		2200	4294	6494	SO:0001583	missense	57529							g.chrX:109696544C>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2699C>A	X.37:g.109696544C>A	ENSP00000419786:p.Pro900Gln					RGAG1_uc011msr.1_Missense_Mutation_p.P900Q	p.P900Q	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	2945	+			900					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.2699C>A	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432186	0.62844	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.57907	0.37;0.37	4.19	2.42	0.29668	.	0.542706	0.13978	N	0.349696	T	0.60971	0.2310	M	0.68593	2.085	0.09310	N	1	D	0.55385	0.971	P	0.58454	0.839	T	0.49254	-0.8959	9	.	.	.	-2.2552	5.5825	0.17258	0.0:0.7468:0.0:0.2532	.	900	Q8NET4	RGAG1_HUMAN	Q	900	ENSP00000419786:P900Q;ENSP00000441452:P900Q	.	P	+	2	0	RGAG1	109583200	0.002000	0.14202	0.001000	0.08648	0.648000	0.38561	1.122000	0.31295	0.530000	0.28619	0.513000	0.50165	CCA		PASS	0.537	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		10	114	10	114	---	---	---	---
GLUD2	2747	broad.mit.edu	37	X	120181847	120181847	+	Silent	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:120181847C>A	ENST00000328078.1	+	1	386	c.309C>A	c.(307-309)cgC>cgA	p.R103R		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	103					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)	p.R103R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						ACCGGGTGCGCGGCATCCTGC	0.637																																						uc004eto.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(307-309)CGC>CGA		glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						91.0	67.0	75.0					X																	120181847		2203	4300	6503	SO:0001819	synonymous_variant	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120181847C>A	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.309C>A	X.37:g.120181847C>A							p.R103R	NM_012084	NP_036216	P49448	DHE4_HUMAN			1	386	+			103					B2R8G0|Q9UDQ4	Silent	SNP	ENST00000328078.1	37	c.309C>A	CCDS14603.1																																																																																				PASS	0.637	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		4	47	4	47	---	---	---	---
SH2D1A	4068	broad.mit.edu	37	X	123499665	123499665	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:123499665G>T	ENST00000371139.4	+	2	491	c.192G>T	c.(190-192)tgG>tgT	p.W64C	SH2D1A_ENST00000477673.2_Missense_Mutation_p.G57V|SH2D1A_ENST00000491950.1_Intron|SH2D1A_ENST00000360027.4_Missense_Mutation_p.W64C|STAG2_ENST00000469481.1_Intron	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	64	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|humoral immune response (GO:0006959)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)	p.W64C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CAGGTTCTTGGAGTGCTGAGG	0.348																																						uc004euf.3																			1	Substitution - Missense(1)		lung(1)		0						c.(190-192)TGG>TGT		SH2 domain protein 1A isoform 1							193.0	173.0	180.0					X																	123499665		2203	4300	6503	SO:0001583	missense	4068	X-linked_Lymphoproliferative_syndrome			cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity	g.chrX:123499665G>T	AL023657	CCDS14608.1, CCDS48162.1	Xq25	2014-09-17	2010-04-21		ENSG00000183918	ENSG00000183918		"""SH2 domain containing"""	10820	protein-coding gene	gene with protein product	"""Duncan's disease"""	300490	"""lymphoproliferative syndrome"", ""SH2 domain protein 1A"""	IMD5, LYP		9771704, 9774102	Standard	NM_001114937		Approved	XLP, MTCP1, DSHP, XLPD, EBVS, SAP	uc004euf.4	O60880	OTTHUMG00000022344	ENST00000371139.4:c.192G>T	X.37:g.123499665G>T	ENSP00000360181:p.Trp64Cys					SH2D1A_uc004euh.3_Missense_Mutation_p.W64C|SH2D1A_uc004eug.3_RNA|SH2D1A_uc010nqw.2_Intron|SH2D1A_uc004eui.3_Intron|SH2D1A_uc010nqx.2_Intron	p.W64C	NM_002351	NP_002342	O60880	SH21A_HUMAN			2	537	+			64			SH2.		A8MSW0|O95383|O95384|O95385|O95386|Q6FGS6|Q9UNR0	Missense_Mutation	SNP	ENST00000371139.4	37	c.192G>T	CCDS14608.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290372	0.59976	.	.	ENSG00000183918	ENST00000371139;ENST00000360027	D;D	0.98567	-5.0;-5.0	4.78	4.78	0.61160	SH2 motif (4);	0.197311	0.47852	N	0.000204	D	0.98118	0.9379	L	0.41124	1.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.934;0.987	D	0.99437	1.0937	10	0.66056	D	0.02	-3.2749	15.4792	0.75511	0.0:0.0:1.0:0.0	.	64;64	O60880-4;O60880	.;SH21A_HUMAN	C	64	ENSP00000360181:W64C;ENSP00000353126:W64C	ENSP00000353126:W64C	W	+	3	0	SH2D1A	123327346	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.292000	0.72725	2.211000	0.71520	0.600000	0.82982	TGG		PASS	0.348	SH2D1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058174.1	NM_002351		16	129	16	129	---	---	---	---
AIFM1	9131	broad.mit.edu	37	X	129270690	129270690	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:129270690C>T	ENST00000287295.3	-	11	1322	c.1092G>A	c.(1090-1092)atG>atA	p.M364I	AIFM1_ENST00000440263.1_Missense_Mutation_p.M12I|AIFM1_ENST00000460436.2_Missense_Mutation_p.M25I|AIFM1_ENST00000346424.2_Missense_Mutation_p.M77I|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000319908.3_Missense_Mutation_p.M360I	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	364	FAD-dependent oxidoreductase. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.M360I(1)|p.M364I(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	TAGCATTGGGCATCACCTTAA	0.488																																						uc004evg.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)	5						c.(1090-1092)ATG>ATA		programmed cell death 8 isoform 1							137.0	96.0	110.0					X																	129270690		2203	4300	6503	SO:0001583	missense	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129270690C>T	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1092G>A	X.37:g.129270690C>T	ENSP00000287295:p.Met364Ile					AIFM1_uc011mur.1_Missense_Mutation_p.M12I|AIFM1_uc011mus.1_3'UTR|AIFM1_uc004evh.2_Missense_Mutation_p.M360I|AIFM1_uc004evi.2_Missense_Mutation_p.M77I|AIFM1_uc004evk.2_RNA	p.M364I	NM_004208	NP_004199	O95831	AIFM1_HUMAN			11	1270	-			364			FAD-dependent oxidoreductase (By similarity).		A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	c.1092G>A	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	C	3.007	-0.204795	0.06180	.	.	ENSG00000156709	ENST00000460436;ENST00000346424;ENST00000319908;ENST00000440263;ENST00000287295	T;T;T;T;T	0.55052	1.08;1.08;0.54;1.08;0.54	5.03	3.23	0.37069	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.287809	0.43579	D	0.000548	T	0.24005	0.0581	N	0.02202	-0.64	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.005;0.003;0.002	T	0.03121	-1.1070	10	0.21540	T	0.41	-4.7531	8.8695	0.35307	0.1567:0.7638:0.0:0.0795	.	77;360;364	O95831-2;O95831-3;O95831	.;.;AIFM1_HUMAN	I	25;77;360;12;364	ENSP00000431222:M25I;ENSP00000316320:M77I;ENSP00000315122:M360I;ENSP00000405879:M12I;ENSP00000287295:M364I	ENSP00000287295:M364I	M	-	3	0	AIFM1	129098371	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.050000	0.41297	0.489000	0.27749	0.594000	0.82650	ATG		PASS	0.488	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			4	44	4	44	---	---	---	---
DDX26B	203522	broad.mit.edu	37	X	134681116	134681116	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:134681116T>C	ENST00000370752.4	+	6	1002	c.668T>C	c.(667-669)cTa>cCa	p.L223P	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	223	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.							p.L223P(2)		large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TTAGAATCTCTAGTTCAAAAA	0.333																																						uc004eyw.3																			2	Substitution - Missense(2)		lung(2)		0						c.(667-669)CTA>CCA		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide							136.0	138.0	137.0					X																	134681116		2203	4296	6499	SO:0001583	missense	203522							g.chrX:134681116T>C	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.668T>C	X.37:g.134681116T>C	ENSP00000359788:p.Leu223Pro						p.L223P	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN			6	1031	+	Acute lymphoblastic leukemia(192;6.56e-05)		223			VWFA.		Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.668T>C	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.506119	0.64410	.	.	ENSG00000165359	ENST00000370752	T	0.70986	-0.53	5.42	5.42	0.78866	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	D	0.85986	0.5825	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88648	0.3180	10	0.87932	D	0	-10.6935	13.6657	0.62393	0.0:0.0:0.0:1.0	.	223	Q5JSJ4	DX26B_HUMAN	P	223	ENSP00000359788:L223P	ENSP00000359788:L223P	L	+	2	0	DDX26B	134508782	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.983000	0.88140	1.822000	0.53115	0.430000	0.28490	CTA		PASS	0.333	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		20	180	20	180	---	---	---	---
MAP7D3	79649	broad.mit.edu	37	X	135313040	135313040	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:135313040G>T	ENST00000316077.9	-	9	1719	c.1499C>A	c.(1498-1500)tCt>tAt	p.S500Y	MAP7D3_ENST00000370661.1_Missense_Mutation_p.S465Y|MAP7D3_ENST00000370663.5_Missense_Mutation_p.S482Y|MAP7D3_ENST00000495432.1_5'Flank	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	500					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.S797Y(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ATTTTCAGGAGATGATGACCA	0.408																																						uc004ezt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1498-1500)TCT>TAT		MAP7 domain containing 3							166.0	147.0	153.0					X																	135313040		1989	4155	6144	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135313040G>T	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.1499C>A	X.37:g.135313040G>T	ENSP00000318086:p.Ser500Tyr					MAP7D3_uc004ezs.2_Missense_Mutation_p.S464Y|MAP7D3_uc011mwc.1_Missense_Mutation_p.S482Y|MAP7D3_uc010nsa.1_Missense_Mutation_p.S458Y	p.S500Y	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN			9	1590	-	Acute lymphoblastic leukemia(192;0.000127)		500					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.1499C>A	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	g	15.81	2.943597	0.53079	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.05925	4.21;3.66;3.66;3.37	4.89	4.89	0.63831	.	0.270116	0.19941	N	0.102655	T	0.18341	0.0440	L	0.46157	1.445	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.999	T	0.02009	-1.1230	10	0.72032	D	0.01	-18.9232	12.4998	0.55950	0.0:0.0:1.0:0.0	.	482;459;500;465	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	Y	465;500;482;459	ENSP00000359695:S465Y;ENSP00000318086:S500Y;ENSP00000359697:S482Y;ENSP00000359694:S459Y	ENSP00000318086:S500Y	S	-	2	0	MAP7D3	135140706	0.916000	0.31088	0.008000	0.14137	0.007000	0.05969	4.947000	0.63583	2.000000	0.58554	0.597000	0.82753	TCT		PASS	0.408	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			9	77	9	77	---	---	---	---
ZIC3	7547	broad.mit.edu	37	X	136649363	136649363	+	Silent	SNP	G	G	A	rs370048935		TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:136649363G>A	ENST00000287538.5	+	1	1063	c.513G>A	c.(511-513)ggG>ggA	p.G171G	RP1-137H15.2_ENST00000442841.1_RNA|ZIC3_ENST00000370606.3_Silent_p.G171G	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	171					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G171G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					AGGGCGCTGGGCACCCGTCGC	0.697																																						uc004fak.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(511-513)GGG>GGA		zinc finger protein of the cerebellum 3							25.0	28.0	27.0					X																	136649363		2170	4220	6390	SO:0001819	synonymous_variant	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136649363G>A	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.513G>A	X.37:g.136649363G>A							p.G171G	NM_003413	NP_003404	O60481	ZIC3_HUMAN			1	1018	+	Acute lymphoblastic leukemia(192;0.000127)		171					B2CNW4|Q14DE5|Q5JY75	Silent	SNP	ENST00000287538.5	37	c.513G>A	CCDS14663.1																																																																																				PASS	0.697	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			7	55	7	55	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140994572	140994572	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:140994572G>A	ENST00000285879.4	+	4	1668	c.1382G>A	c.(1381-1383)aGt>aAt	p.S461N	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	461								p.S461N(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)					CTTTTCCAGAGTTCCCCTGAG	0.488										HNSCC(15;0.026)																												uc004fbt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1381-1383)AGT>AAT		melanoma antigen family C, 1							97.0	107.0	104.0					X																	140994572		2203	4299	6502	SO:0001583	missense	9947						protein binding	g.chrX:140994572G>A	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.1382G>A	X.37:g.140994572G>A	ENSP00000285879:p.Ser461Asn	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.S461N	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	1668	+	Acute lymphoblastic leukemia(192;6.56e-05)		461					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1382G>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	3.124	-0.179908	0.06380	.	.	ENSG00000155495	ENST00000285879	T	0.02890	4.12	.	.	.	.	.	.	.	.	T	0.01421	0.0046	N	0.08118	0	0.46542	D	0.999092	P	0.42993	0.797	B	0.34452	0.183	T	0.64732	-0.6338	8	0.87932	D	0	.	5.9382	0.19177	6.0E-4:0.0:0.9994:0.0	.	461	O60732	MAGC1_HUMAN	N	461	ENSP00000285879:S461N	ENSP00000285879:S461N	S	+	2	0	MAGEC1	140822238	0.002000	0.14202	0.027000	0.17364	0.027000	0.11550	-0.279000	0.08479	0.147000	0.19030	0.149000	0.16113	AGT		PASS	0.488	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		20	176	20	176	---	---	---	---
SLITRK4	139065	broad.mit.edu	37	X	142717525	142717525	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:142717525C>A	ENST00000381779.4	-	2	1625	c.1400G>T	c.(1399-1401)gGc>gTc	p.G467V	SLITRK4_ENST00000338017.4_Missense_Mutation_p.G467V|SLITRK4_ENST00000356928.1_Missense_Mutation_p.G467V	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	467						integral component of membrane (GO:0016021)		p.G467V(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GTCAAAGGTGCCTGCTGAGAT	0.388																																						uc004fbx.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(1399-1401)GGC>GTC		slit and trk like 4 protein precursor							63.0	66.0	65.0					X																	142717525		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142717525C>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1400G>T	X.37:g.142717525C>A	ENSP00000371198:p.Gly467Val					SLITRK4_uc004fby.2_Missense_Mutation_p.G467V	p.G467V	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	1776	-	Acute lymphoblastic leukemia(192;6.56e-05)		467			Extracellular (Potential).|LRR 10.		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.1400G>T	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001482	0.54254	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.59502	0.26;0.26;0.26	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.74928	0.3781	M	0.75615	2.305	0.80722	D	1	D	0.58970	0.984	D	0.64144	0.922	T	0.77895	-0.2417	10	0.72032	D	0.01	-7.3174	17.0974	0.86639	0.0:1.0:0.0:0.0	.	467	Q8IW52	SLIK4_HUMAN	V	467	ENSP00000371198:G467V;ENSP00000349400:G467V;ENSP00000336627:G467V	ENSP00000336627:G467V	G	-	2	0	SLITRK4	142545191	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.047000	0.71038	2.445000	0.82738	0.600000	0.82982	GGC		PASS	0.388	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		10	80	10	80	---	---	---	---
SLITRK2	84631	broad.mit.edu	37	X	144905921	144905921	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:144905921T>A	ENST00000370490.1	+	1	6233	c.1978T>A	c.(1978-1980)Tta>Ata	p.L660I	SLITRK2_ENST00000434188.2_Missense_Mutation_p.L660I|SLITRK2_ENST00000447897.2_Missense_Mutation_p.L660I|SLITRK2_ENST00000413937.2_Missense_Mutation_p.L660I|SLITRK2_ENST00000428560.2_Missense_Mutation_p.L660I			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	660					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.L660I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TACCAACAACTTAGACGTAAG	0.458																																						uc004fcd.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(1978-1980)TTA>ATA		SLIT and NTRK-like family, member 2 precursor							93.0	82.0	86.0					X																	144905921		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144905921T>A	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1978T>A	X.37:g.144905921T>A	ENSP00000359521:p.Leu660Ile					SLITRK2_uc010nsp.2_Missense_Mutation_p.L660I|SLITRK2_uc010nso.2_Missense_Mutation_p.L660I|SLITRK2_uc011mwq.1_Missense_Mutation_p.L660I|SLITRK2_uc011mwr.1_Missense_Mutation_p.L660I|SLITRK2_uc011mws.1_Missense_Mutation_p.L660I|SLITRK2_uc004fcg.2_Missense_Mutation_p.L660I|SLITRK2_uc011mwt.1_Missense_Mutation_p.L660I	p.L660I	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	2968	+	Acute lymphoblastic leukemia(192;6.56e-05)		660			Cytoplasmic (Potential).		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.1978T>A	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	T	10.34	1.322649	0.23994	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.52295	0.71;0.67;0.67;0.67;0.67;0.67	5.91	2.0	0.26442	.	0.000000	0.64402	D	0.000002	T	0.36441	0.0967	L	0.54323	1.7	0.44719	D	0.997713	B	0.21688	0.059	B	0.20577	0.03	T	0.13045	-1.0524	10	0.45353	T	0.12	-4.1788	3.5022	0.07677	0.1632:0.2818:0.0:0.5549	.	660	Q9H156	SLIK2_HUMAN	I	660	ENSP00000334374:L660I;ENSP00000411681:L660I;ENSP00000359521:L660I;ENSP00000397015:L660I;ENSP00000407347:L660I;ENSP00000412010:L660I	ENSP00000334374:L660I	L	+	1	2	SLITRK2	144713613	0.997000	0.39634	0.881000	0.34555	0.886000	0.51366	0.381000	0.20619	-0.008000	0.14320	-0.438000	0.05819	TTA		PASS	0.458	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		11	74	11	74	---	---	---	---
AFF2	2334	broad.mit.edu	37	X	148035201	148035201	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:148035201G>T	ENST00000370460.2	+	10	1968	c.1489G>T	c.(1489-1491)Gat>Tat	p.D497Y	AFF2_ENST00000286437.5_Missense_Mutation_p.D138Y|AFF2_ENST00000342251.3_Missense_Mutation_p.D464Y|AFF2_ENST00000370457.5_Missense_Mutation_p.D464Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	497					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.D497Y(2)|p.D138Y(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTGAGTCGGATTCAGACAC	0.587																																						uc004fcp.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)	5						c.(1489-1491)GAT>TAT		fragile X mental retardation 2							128.0	120.0	122.0					X																	148035201		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148035201G>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1489G>T	X.37:g.148035201G>T	ENSP00000359489:p.Asp497Tyr					AFF2_uc004fcq.2_Missense_Mutation_p.D487Y|AFF2_uc004fcr.2_Missense_Mutation_p.D458Y|AFF2_uc011mxb.1_Missense_Mutation_p.D462Y|AFF2_uc004fcs.2_Missense_Mutation_p.D464Y|AFF2_uc011mxc.1_Missense_Mutation_p.D138Y	p.D497Y	NM_002025	NP_002016	P51816	AFF2_HUMAN			10	1968	+	Acute lymphoblastic leukemia(192;6.56e-05)		497					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1489G>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561777	0.65538	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.01	5.01	0.66863	.	0.054538	0.64402	D	0.000002	D	0.89068	0.6610	M	0.83118	2.625	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.999;1.0	D	0.90803	0.4695	10	0.72032	D	0.01	.	17.756	0.88449	0.0:0.0:1.0:0.0	.	138;462;464;458;487;497	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	Y	497;464;464;138	ENSP00000359489:D497Y;ENSP00000359486:D464Y;ENSP00000345459:D464Y;ENSP00000286437:D138Y	ENSP00000286437:D138Y	D	+	1	0	AFF2	147842901	1.000000	0.71417	0.839000	0.33178	0.127000	0.20565	8.782000	0.91809	2.211000	0.71520	0.600000	0.82982	GAT		PASS	0.587	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		11	97	11	97	---	---	---	---
MAGEA6	4105	broad.mit.edu	37	X	151869553	151869553	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:151869553C>A	ENST00000329342.5	+	3	468	c.243C>A	c.(241-243)agC>agA	p.S81R		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	81								p.S81R(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTCTGGAGCCAATCCTATG	0.602																																						uc004ffq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(241-243)AGC>AGA		melanoma antigen family A, 6							26.0	28.0	27.0					X																	151869553		2200	4291	6491	SO:0001583	missense	4105						protein binding	g.chrX:151869553C>A		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.243C>A	X.37:g.151869553C>A	ENSP00000329199:p.Ser81Arg					MAGEA6_uc004ffr.1_Missense_Mutation_p.S81R|MAGEA2_uc010nto.2_Intron	p.S81R	NM_005363	NP_005354	P43360	MAGA6_HUMAN			3	437	+	Acute lymphoblastic leukemia(192;6.56e-05)		81					A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.243C>A	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	c	1.958	-0.439512	0.04636	.	.	ENSG00000197172	ENST00000329342;ENST00000412733;ENST00000457643	T;T;T	0.05025	3.51;3.51;3.51	0.596	0.596	0.17496	Melanoma associated antigen, MAGE, N-terminal (1);	23.165400	0.00166	N	0.000003	T	0.07052	0.0179	N	0.25647	0.755	0.09310	N	1	B	0.15930	0.015	B	0.30316	0.114	T	0.39461	-0.9613	9	0.36615	T	0.2	.	.	.	.	.	81	P43360	MAGA6_HUMAN	R	81	ENSP00000329199:S81R;ENSP00000403303:S81R;ENSP00000401806:S81R	ENSP00000329199:S81R	S	+	3	2	MAGEA6	151620209	0.003000	0.15002	0.029000	0.17559	0.026000	0.11368	0.243000	0.18106	0.569000	0.29329	0.174000	0.16983	AGC		PASS	0.602	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		8	42	8	42	---	---	---	---
MAGEA12	4111	broad.mit.edu	37	X	151900645	151900645	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:151900645C>G	ENST00000357916.4	-	2	311	c.156G>C	c.(154-156)gaG>gaC	p.E52D	CSAG4_ENST00000361201.4_RNA|CSAG1_ENST00000370287.3_5'Flank|CSAG1_ENST00000370291.2_5'Flank|MAGEA12_ENST00000393869.3_Missense_Mutation_p.E52D|MAGEA12_ENST00000393900.3_Missense_Mutation_p.E52D|CSAG1_ENST00000452779.2_5'Flank	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	52								p.E52D(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCAGGCACCTCCCGCAGGG	0.612																																						uc010ntp.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(154-156)GAG>GAC		melanoma antigen family A, 12							68.0	69.0	69.0					X																	151900645		2203	4300	6503	SO:0001583	missense	4111							g.chrX:151900645C>G		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.156G>C	X.37:g.151900645C>G	ENSP00000350592:p.Glu52Asp					MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.E52D|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank	p.E52D	NM_005367	NP_005358	P43365	MAGAC_HUMAN			3	510	-	Acute lymphoblastic leukemia(192;6.56e-05)		52					Q9NSD3	Missense_Mutation	SNP	ENST00000357916.4	37	c.156G>C	CCDS14710.1	.	.	.	.	.	.	.	.	.	.	C	6.323	0.427749	0.11987	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.04758	3.56;3.56;3.56	1.26	0.316	0.15857	Melanoma associated antigen, MAGE, N-terminal (1);	0.753550	0.10941	N	0.617295	T	0.08403	0.0209	M	0.84433	2.695	0.09310	N	1	B	0.32467	0.372	B	0.35510	0.204	T	0.29366	-1.0014	10	0.32370	T	0.25	.	3.6293	0.08126	0.0:0.714:0.0:0.286	.	52	P43365	MAGAC_HUMAN	D	52	ENSP00000350592:E52D;ENSP00000377447:E52D;ENSP00000377478:E52D	ENSP00000350592:E52D	E	-	3	2	MAGEA12	151651301	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-2.537000	0.00939	0.034000	0.15491	-1.243000	0.01532	GAG		PASS	0.612	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		6	72	6	72	---	---	---	---
FAM50A	9130	broad.mit.edu	37	X	153678436	153678436	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:153678436G>T	ENST00000393600.3	+	11	999	c.889G>T	c.(889-891)Gag>Tag	p.E297*		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	297					spermatogenesis (GO:0007283)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E297*(1)		breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCCACTGTGGAGAAGGATGA	0.612																																						uc004fll.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(889-891)GAG>TAG		XAP-5 protein							96.0	80.0	85.0					X																	153678436		2203	4300	6503	SO:0001587	stop_gained	9130				spermatogenesis	nucleus		g.chrX:153678436G>T	BC000028	CCDS14751.1	Xq28	2008-02-05			ENSG00000071859	ENSG00000071859			18786	protein-coding gene	gene with protein product	"""DNA segment on chromosome X (unique) 9928 expressed sequence"""	300453				9339379, 9039504	Standard	NM_004699		Approved	DXS9928E, XAP5, HXC-26, 9F	uc004fll.4	Q14320	OTTHUMG00000033292	ENST00000393600.3:c.889G>T	X.37:g.153678436G>T	ENSP00000377225:p.Glu297*						p.E297*	NM_004699	NP_004690	Q14320	FA50A_HUMAN			11	987	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		297					A8KAQ4|B2R997|Q5HY37|Q6PJH5	Nonsense_Mutation	SNP	ENST00000393600.3	37	c.889G>T	CCDS14751.1	.	.	.	.	.	.	.	.	.	.	G	33	5.272107	0.95429	.	.	ENSG00000071859	ENST00000393600;ENST00000158526	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-40.3685	15.8586	0.79005	0.0:0.0:1.0:0.0	.	.	.	.	X	297;257	.	ENSP00000158526:E257X	E	+	1	0	FAM50A	153331630	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	7.318000	0.79029	2.078000	0.62432	0.544000	0.68410	GAG		PASS	0.612	FAM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081643.2	NM_004699		8	89	8	89	---	---	---	---
F8	2157	broad.mit.edu	37	X	154182256	154182256	+	Missense_Mutation	SNP	T	T	A	rs137852427		TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:154182256T>A	ENST00000360256.4	-	12	2014	c.1814A>T	c.(1813-1815)tAc>tTc	p.Y605F		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	605	F5/8 type A 2.|Plastocyanin-like 4.		Y -> H (in HEMA). {ECO:0000269|PubMed:10404764}.|Y -> S (in HEMA; severe).		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.Y605F(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTCTGTGAGGTACCAGCTTCG	0.423																																						uc004fmt.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	GRCh37	CM080317|CM930222	F8	M	rs137852427	c.(1813-1815)TAC>TTC		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						212.0	191.0	198.0					X																	154182256		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154182256T>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1814A>T	X.37:g.154182256T>A	ENSP00000353393:p.Tyr605Phe						p.Y605F	NM_000132	NP_000123	P00451	FA8_HUMAN			12	1985	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		605		Y -> H (in HEMA).|Y -> S (in HEMA; severe).	F5/8 type A 2.|Plastocyanin-like 4.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.1814A>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	t	24.5	4.541582	0.85917	.	.	ENSG00000185010	ENST00000360256	D	0.99812	-6.88	5.18	5.18	0.71444	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99661	0.9874	M	0.74389	2.26	0.38931	D	0.957943	D	0.76494	0.999	D	0.80764	0.994	D	0.97758	1.0219	10	0.62326	D	0.03	-14.7876	13.0565	0.58984	0.0:0.0:0.0:1.0	.	605	P00451	FA8_HUMAN	F	605	ENSP00000353393:Y605F	ENSP00000353393:Y605F	Y	-	2	0	F8	153835450	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.784000	0.75084	1.828000	0.53243	0.414000	0.27820	TAC		PASS	0.423	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			19	161	19	161	---	---	---	---
FUNDC2	65991	broad.mit.edu	37	X	154261815	154261815	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:154261815G>T	ENST00000369498.3	+	2	525	c.271G>T	c.(271-273)Ggt>Tgt	p.G91C	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	91						mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.G91C(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTTCATTGGAGGTGTCACTGG	0.453																																						uc004fmw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(271-273)GGT>TGT		FUN14 domain containing 2							149.0	129.0	136.0					X																	154261815		2203	4300	6503	SO:0001583	missense	65991					mitochondrion		g.chrX:154261815G>T	AF267862	CCDS14763.1	Xq28	2010-03-12			ENSG00000165775	ENSG00000165775			24925	protein-coding gene	gene with protein product						12477932	Standard	NM_023934		Approved	HCBP6, DC44	uc004fmw.3	Q9BWH2	OTTHUMG00000013504	ENST00000369498.3:c.271G>T	X.37:g.154261815G>T	ENSP00000358510:p.Gly91Cys						p.G91C	NM_023934	NP_076423	Q9BWH2	FUND2_HUMAN			2	421	+	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		91					B2R7W5|D3DWY5|Q8NHX8|Q9H2I6	Missense_Mutation	SNP	ENST00000369498.3	37	c.271G>T	CCDS14763.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.975946	0.74360	.	.	ENSG00000165775	ENST00000369498	.	.	.	5.04	5.04	0.67666	.	0.063311	0.64402	D	0.000007	T	0.79793	0.4507	M	0.82056	2.57	0.50813	D	0.999899	D	0.89917	1.0	D	0.87578	0.998	T	0.82851	-0.0253	9	0.72032	D	0.01	.	15.0274	0.71680	0.0:0.0:1.0:0.0	.	91	Q9BWH2	FUND2_HUMAN	C	91	.	ENSP00000358510:G91C	G	+	1	0	FUNDC2	153915009	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.769000	0.74985	2.223000	0.72356	0.594000	0.82650	GGT		PASS	0.453	FUNDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037641.3	NM_023934		9	75	9	75	---	---	---	---
SPRY3	10251	broad.mit.edu	37	X	155003644	155003644	+	Silent	SNP	G	G	A			TCGA-34-5234-01A-01D-1632-08	TCGA-34-5234-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7b19ae84-2cab-47e7-87df-46c497da17e0	be106855-927a-4cdd-b779-214d377fb068	g.chrX:155003644G>A	ENST00000302805.2	+	2	542	c.111G>A	c.(109-111)caG>caA	p.Q37Q		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	37					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.Q37Q(1)				all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCTGTAAACAGGCCCTCTCCA	0.532																																						uc004fnq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(109-111)CAG>CAA		sprouty homolog 3							247.0	235.0	239.0					X																	155003644		2203	4296	6499	SO:0001819	synonymous_variant	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155003644G>A	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.111G>A	X.37:g.155003644G>A						SPRY3_uc010nvl.1_Silent_p.Q37Q	p.Q37Q	NM_005840	NP_005831	O43610	SPY3_HUMAN			2	565	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		37					A8K0H8	Silent	SNP	ENST00000302805.2	37	c.111G>A	CCDS14769.4																																																																																				PASS	0.532	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		12	95	12	95	---	---	---	---
